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Click on the links (red) to see the detailed information.
Gross mutations (sorted by position):Click on the links (red) to see the detailed information
Type | Size | affected exon(s) | Family history |
No of cases | Note |
deletion |
>4 |
1,2,3 |
sporadic |
0 |
click here |
deletion |
>9 |
1,2,3,4 |
positive |
0 |
click here |
deletion |
>15 |
1,2,3,4,5,6,7,8 |
sporadic |
0 |
click here |
deletion |
>15.0 |
1,2,3,4,5,6,7,8 |
positive |
0 |
click here |
insertion |
?15.0 |
1,2,3,4,5,6,7,8 |
positive |
0 |
click here |
deletion |
1.4 |
4 |
positive |
0 |
click here |
deletion |
3.2 |
4 |
positive |
0 |
click here |
deletion |
2.9 |
4 |
positive |
0 |
click here |
insertion |
4 |
4 |
positive |
0 |
click here |
deletion |
3.5 |
4 |
positive |
0 |
click here |
insertion |
1.2 |
4 |
positive |
0 |
click here |
deletion |
? |
4 |
positive |
0 |
click here |
deletion |
? |
4 |
sporadic |
0 |
ND |
deletion |
? |
4 |
sporadic |
0 |
click here |
deletion |
? |
4 |
positive |
0 |
click here |
deletion |
? |
4 |
positive |
0 |
click here |
deletion |
? |
4 |
positive |
0 |
click here |
deletion |
4 |
4 |
positive |
0 |
click here |
deletion |
2 |
4 |
sporadic |
0 |
click here |
deletion |
2.6 |
4 |
positive |
0 |
click here |
deletion |
3.2 |
4 |
unknown |
0 |
ND |
deletion |
2.75 |
4 |
positive |
0 |
click here |
insertion |
3.2 |
4 |
unknown |
0 |
click here |
deletion |
2.6 |
4 |
sporadic |
0 |
click here |
deletion |
2.6 |
4 |
unknown |
0 |
ND |
deletion |
3.2 |
4 |
positive |
0 |
click here |
insertion |
3.2 |
4 |
unknown |
0 |
ND |
deletion |
8.5 |
4,5,6 |
unknown |
0 |
ND |
deletion |
? |
5,6 |
positive |
0 |
click here |
deletion |
5.5 |
5,6 |
sporadic |
0 |
click here |
insertion |
2 |
5,6 |
positive |
0 |
click here |
deletion |
4.5 |
5,6 |
positive |
0 |
click here |
deletion |
? |
5,6,7,8 |
positive |
0 |
click here |
deletion |
17 |
5,6,7,8 |
unknown |
0 |
ND |
deletion |
? |
6 |
sporadic |
0 |
click here |
deletion |
2.6 |
7 |
positive |
0 |
click here |
deletion |
1.7 |
7 |
unknown |
0 |
ND |
deletion |
1.7 |
7 |
unknown |
0 |
ND |
deletion |
>3.3 |
7,8 |
positive |
0 |
click here |
deletion |
? |
7,8 |
sporadic |
0 |
click here |
deletion |
? |
8 |
positive |
0 |
click here |
deletion |
3.5 |
8 |
positive |
0 |
click here |
deletion |
>1.6 |
8 |
sporadic |
0 |
click here |
deletion |
>15 |
all |
sporadic |
0 |
click here |
deletion |
9 |
unknown |
positive |
0 |
click here |
Micro mutations (sorted by position):Click on the links (red) to see the detailed information
Nucleotide change | | Molecular consequence | Traditional | HUGO | CDS | position | Traditional | HUGO |
-103C>T |
g.1080C>T |
c.- |
promoter |
- |
- |
-40C>G |
g.1143C>T |
c.- |
promoter |
- |
- |
229T>C |
g. |
c.2T>C |
exon 2 |
p.Met-22Thr |
Met1Thr |
262T>G |
g. |
c.35T>G |
exon 2 |
p.Leu-11Arg |
Leu12Arg |
263_264insG |
g. |
c.36_37insG |
exon 2 |
p.Leu-10Alafs*7 |
p.Leu13Alafs*7 |
414_421delTCCAGCTT |
g. |
c.187_194 delTCCAGCTT |
exon 3 |
p.Ser41Alafs*16 |
Ser63Alafs*16 |
541delC |
g. |
c.314delC |
exon 3 |
p.Pro83Glnfs*43 |
Pro105Glnfs*43 |
543delA |
g. |
c.316_317delA |
exon 3 |
p.Thr84Leufs*42 |
Thr106Leufs*42 |
564G>A |
g.1746G>A |
c.-22-1G>A |
intron 1 |
splicing defect |
- |
566T>C |
g.1748T>C |
c.-21G>A |
exon 1 |
variant in 5' untranslated region |
- |
587A>G |
g. |
c.1A>G |
exon 2 |
Met-22Val |
Met1Val |
589_596dup8bp |
g.1771_1778dup |
c.3_10dup |
exon 2 |
frameshift |
Arg4fs |
591C>T |
g. |
c.5C>T |
exon 2 |
Ala-21Val |
Ala2Val |
602_603insGA |
g.1784_1785insGA |
c.16_17insGA |
exon 2 |
Frameshift |
Thr6fs |
626_641del10 |
g. |
c.40_49del10 |
exon 2 |
Frameshift |
|
635delGinsTT |
g.1817delGinsTT |
c.49delGinsTT |
exon 2 |
Frameshift |
Gly17fs |
638G>A |
g. |
c.51+1G>A |
intron 2 |
Splicing defect |
|
638G>A |
g.1820G>A |
c.51+1G>A |
intron 2 |
Splicing defect |
- |
640A>G |
g.1822A>G |
c.51+3A>G |
intron 2 |
splicing defect |
|
640A>G |
g.1822A>G |
c.51+3A>G |
intron 2 |
|
|
642G>A |
g.1824G>A |
c.51+5G>A |
intron 2 |
splicing defect |
|
642G>A |
g.1824G>A |
c.51+5G>A |
intron 2 |
splicing defect |
- |
1020T>C |
g. |
c.793T>C |
exon 5 |
p.Trp243Arg |
Trp265Arg |
1536C>T |
g. |
c.1309C>T |
exon 8 |
p.Gln415* |
Gln437* |
1563delG |
g. |
c.1336delG |
exon 8 |
p.Val424Cysfs*4 |
Val446Cysfs*4 |
2194delA |
g.3376delA |
c.52-2delA |
intron 2 |
splicing defect |
- |
2195G>A |
g. |
c.52-1G>A |
intron 2 |
Splicing defect |
|
2212_2213delAT |
g.3394_3395delAT |
c.74_75delAT |
exon 3 |
Frameshift |
Asn25fs |
2238C>T |
g.3420C>T |
c.94C>T |
exon 3 |
Gln10Stop |
Gln32Stop |
2250delAG |
g.3432_3433del |
c.106_107del |
exon 3 |
frameshift |
Glu35fs |
2264_2265delAG |
g.3446_3447del |
c.120_121del |
exon 3 |
Frameshift |
Arg30fs |
2304delC |
g.3486del |
c.160del |
exon 3 |
Frameshift |
Met53fs |
2340delC |
g. |
c.196delC |
exon 3 |
Frameshift |
|
2353C>G |
g.3535C>G |
c.209C>G |
exon 3 |
Ser48Stop |
Ser70Stop |
2393delT |
g.3575delT |
c.249delT |
exon 3 |
Frameshift |
Asn83fs |
2407delC |
g. |
c.275delC |
exon 3 |
Frameshift |
|
2445C>T |
g.3627 C>T |
c.301C>T |
exon 3 |
Gln79Stop |
Gln101Stop |
2454C>T |
g. |
c.310C>T |
exon 3 |
Gln82Stop |
Gln104Stop |
2458_2461delCAAC |
g.3640_3643del |
c.314_317del |
exon 3 |
Frameshift |
Pro105fs |
2466C>T |
g. |
c.322C>T |
exon 3 |
Gln86Stop |
Gln108Stop |
2467_2468insA |
g.3649_3650insA |
c.323_324insA |
exon 3 |
Frameshift |
Gln108fs |
2469_2481del13bp |
g. |
c.325_337del13bp |
exon 3 |
Frameshift |
|
2490C>T |
g.3672C>T |
c.34C>T |
exon 3 |
Gln94Stop |
Gln116Stop |
2495delC |
g.3677delC |
c.351delC |
exon 3 |
Frameshift |
Pro117fs |
2502_2521dup |
g. |
c.358_377dup |
exon 3 |
|
|
2527_2528delCT |
g. |
c.383_384delCT |
exon 3 |
Frameshift |
|
2533G>A |
g.3715G>A |
c.389G>A |
exon 3 |
Cys108Tyr |
Cys130Tyr |
2534_2535delCT |
g.3716_3717del |
c.390_391del |
exon 3 |
Frameshift |
Cys130fs |
2544G>T |
g. |
c.400G>T |
exon 3 |
Glu112Stop |
Glu134Stop |
2544delG |
g.3726delG |
c.400delG |
exon 3 |
Frameshift |
Glu134fs |
2579_2620del42 |
g.3761_3802del |
c.435_476del |
exon 3 |
deletion of amino acid |
Leu146_Ala159del |
2581T>C |
g. |
c.437T>C |
exon 3 |
Leu124Ser |
Leu136Ser |
2588_2598del11bp |
g. |
c.444_455del11bp |
exon 3 |
Frameshift |
|
2589T>G |
g.3771T>G |
c.445T>G |
exon 3 |
Phe127Val |
Phe149Val |
2593C>T |
g.3775C>T |
c.449C>T |
exon 3 |
Ser128Phe |
Ser150Phe |
2603delC |
g. |
c.459delC |
exon 3 |
Frameshift |
|
2608A>G |
g.3790A>G |
c.464A>G |
exon 3 |
His133Arg |
His155Arg |
2611C>A |
g. |
c.467C>A |
exon 3 |
Ala134Asp |
Ala156Asp |
2644T>G |
g. |
c.500T>G |
exon 3 |
Met145Arg |
Met167Arg |
2646G>C |
g. |
c.502G>C |
exon 3 |
Ala146Pro |
ala168Pro |
2650T>C |
g.3472T>C |
c.146T>C |
exon 3 |
Phe147Ser |
Phe169Ser |
2652T>C |
g.3834T>C |
c.508T>C |
exon 3 |
Ser148Pro |
Ser170Pro |
2656C>T |
g.3838C>T |
c.512C>T |
exon 3 |
Pro149Leu |
Pro171Leu |
2674T>C |
g.3856T>C |
c.530T>C |
exon 3 |
Leu155Pro |
Leu177Pro |
2677T>C |
g. |
c.533T>C |
exon 3 |
Leu156Pro |
Leu178Pro |
2678_2679insTT |
g. |
c.534_535insTT |
exon 3 |
Frameshift |
|
2679insTT |
g.3861_3862insTT |
c.535_536insTT |
exon 3 |
frameshift |
Leu178fs |
2694G>C |
g.3876G>C |
c.550G>C |
exon 3 |
Gly162Arg or splicing |
Gly184Arg or splicing |
2694G>A |
g.3876G>A |
c.550G>A |
exon 3 |
splicing defect or Gly162Arg |
Gly184Arg |
2695G>A |
g.3877G>A |
c.550+1G>A |
intron 3 |
Splicing defect |
- |
2696_2697insT |
g.3878_3879insT |
c.550+2_550+3insT |
intron 3 |
Splicing defect |
- |
2699G>A |
g.3881G>A |
c.550+5G>A |
intron 3 |
|
|
2699G>C |
g.3881G>C |
c.550+5G>C |
intron 3 |
|
|
4348C>G |
g. |
c.551-3C>G |
intron 4 |
Splicing defect |
|
4349A>G |
g. |
c.551-2A>G |
intron 3 |
Splicing defect |
|
4349delA |
g.5531delA |
c.551-2delA |
intron 3 |
Gly162_Pro206del |
Gly184_Pro228del |
4349delA |
g.5531delA |
c.551-2delA |
intron 3 |
Gly162_pro206del |
Gly184_Pro228del |
4351G>A |
g.5533G>A |
c.552G>A |
exon 4 |
Gly162Glu |
Gly184Glu |
4368A>T |
g. |
c.568A>T |
exon 4 |
Leu168Stop |
Leu190Stop |
4371A>G |
g.5553A>G |
c.571A>G |
exon 4 |
Thr169Pro |
Thr191Pro |
4371delA |
g.5553del |
c.571del |
exon 4 |
Frameshift |
Lys190fs |
4372insA |
g.5554_5555insA |
c.571_572insA |
exon 4 |
frameshift |
Thr191fs |
4373_4385del13bp |
g. |
c.573_585del13bp |
exon 4 |
Frameshift |
|
4378T>C |
g.5560T>C |
c.578T>C |
exon 4 |
Leu171Pro |
Leu193Pro |
4393_4394delCT |
g.5575_5576delCT |
c.593_594delCT |
exon 4 |
Frameshift |
Ser198fs |
4395delT |
g.5577del |
c.595del |
exon 4 |
Frameshift |
Ser198fs |
4395T>A |
g.5577T>A |
c.595T>A |
exon 4 |
Tyr177Asn |
Tyr199Asn |
4400delC |
g.5582delC |
c.610delC |
exon 4 |
frameshift |
Pro200fs |
4401A>T |
g. |
c.601A>T |
exon 4 |
Leu179Stop |
Leu201Stop |
4414G>A |
g.5596G>A |
c.614G>A |
exon 4 |
Cys183Tyr |
Cys205Tyr |
4428delC |
g.5610del |
c.628del |
exon 4 |
Frameshift |
Ala209fs |
4453T>A |
g.5635T>A |
c.653T>A |
exon 4 |
Val196Asp |
Val218Asp |
4460_4461insA |
g.5642_5643insA |
c.660_661insA |
exon 4 |
Frameshift |
Ser220fs |
4467C>T |
g.5649C>T |
c.667C>T |
exon 4 |
Gln201Stop |
Gln223Stop |
4471T>G |
g.5653T>G |
c.671T>G |
exon 4 |
Ile202Ser |
Ile224Ser |
4471T>A |
g. |
c.671T>A |
exon 4 |
Ile202Asn |
Ile224Asn |
4474T>C |
g. |
c.675T>C |
exon 4 |
Phe203Ser |
Phe225Ser |
4486G>A |
g. |
c.685+1G>A |
intron 4 |
Splicing defect |
|
8322C>G |
g.9504C>G |
c.686-3C>G |
intron 4 |
Asp207_Ser274del |
Asp229_Ser296del |
8329delGCCATAAinsTCCCTTAT |
g. |
c.690delGCCATAAinsTCCCTTAT |
exon 5 |
Frameshift |
|
8346T>C |
g.9528T>C |
c.717T>C |
exon 5 |
Phe214Ser |
Phe236Ser |
8370delACinsT |
g.9952AC>T |
c.731AC>T |
exon 5 |
frameshift |
Tyr244fs |
8377C>A |
g.9559C>A |
c.738C>A |
exon 5 |
Ser224Arg |
Ser246Arg |
8382C>G |
g.9564C>G |
c.743C>G |
exon 5 |
Pro226Arg |
Pro248Arg |
8383delC |
g.9565delC |
c.744delC |
exon 5 |
frameshift |
Pro248fs |
8390delC |
g.9572delC |
c.751delC |
exon 5 |
frameshift |
Val250fs |
8403G>C |
g. |
c.764G>C |
exon 5 |
Ser233Thr |
Ser255Thr |
8412A>T |
g. |
c.773A>T |
exon 5 |
Asn236Ile |
Asn258Ile |
8429_8452del24bp |
g. |
c.790_813del24bp |
exon 5 |
|
|
8448_8449insAACAC |
g.9630_9631insAACAC |
c.809_810insAACAC |
exon 5 |
Frameshift |
Thr270fs |
8452_8457delCAACAA |
g.9634_9639delCAACAA |
c.813_818delCAACAA |
exon 5 |
Asn249_Asn250del |
Asn271_Asn272del |
8455delCAA |
g.9635_9637del |
c.813_815del |
exon 5 |
delAsn250 |
delAsn272 |
8456_8458delAAG |
g.9638_9640del |
c.817_819del |
exon 5 |
Lys251del |
Lys273del |
8457_8459delAGA |
g.9639_9641del |
c.818_820del |
exon 5 |
Lys251del |
Lys273fs |
8459A>G |
g.9641A>G |
c.820A>G |
exon 5 |
Ile252Val |
Ile274Val |
8493_8494delCC |
g.9675_9676del |
c.854_855del |
exon 5 |
Frameshift |
Thr285fs |
8502_03TC>AA |
g.9684_05TC>AA |
c.863_64TC>AA |
exon 5 |
Val266Glu |
Val288Glu |
8503_8523del21insG |
g. |
c.864_884del21insG |
exon 5 |
Frameshift |
|
8507_8509delCTC |
g. |
c.868_870delCTC |
exon 5 |
|
|
8510A>C |
g. |
c.871A>C |
exon 5 |
Asn269His |
Asn291His |
8517_8520delTCTA |
g.9699_9702delTCTA |
c.878-881delTCTA |
exon 5 |
Frameshift stop 272 |
Ile271fs |
8517T>C |
g.9899T>C |
c.878T>C |
exon 5 |
Ile271Thr |
Ile293Thr |
8521C>G |
g.9703C>G |
c.882C>G |
exon 5 |
Asp207_Ser274del |
Asp229_Ser296del |
8523T>G |
g.9705T>G |
c.884T>G |
exon 5 |
Asp207_Ser274del, Leu273Arg |
Asp229_Ser296del, Leu295Arg |
8529G>T |
g. |
c.889+1G>T |
intron 5 |
Splicing defect |
|
8530T>C |
g.9712T>C |
c.889+2T>C |
intron 5 |
Asp207_Ser274del |
Asp229_Ser296del |
8721A>G |
g.9903A>G |
c.890-2A>G |
intron 5 |
Splicing defect |
- |
8722G>A |
g.9904G>A |
c.890-1G>A |
intron 5 |
Splicing defect |
- |
8730G>A |
g. |
c.897G>A |
exon 6 |
Trp277Stop |
Trp299Stop |
8735C>A |
g.9917C>A |
c.902C>A |
exon 6 |
Thr279Lys |
Thr301Lys |
8735C>T |
g.9917C>T |
c.902C>T |
exon 6 |
Thr279Ile |
Thr301Ile |
8737delACA |
g.9919_9921del |
c.904_906del |
exon 6 |
Thr280del |
Thr302del |
8741T>G |
g.9923T>G |
c.880T>G |
exon 6 |
Phe281Cys |
Phe303Cys |
8741T>C |
g. |
c.908T>C |
exon 6 |
Phe281Ser |
Phe303Ser |
8755A>G |
g.9937A>G |
c.922A>G |
exon 6 |
Thr286Ala |
Thr308Ala |
8770T>C |
g.9952T>C |
c.937T>C |
exon 6 |
Phe291Leu |
Phe313Leu |
8779_8784del6bp |
g.9961_9966del |
c.946_951del |
exon 6 |
LysAsn294_295del |
LysAsn316_317del |
8783delA |
g. |
c.950delA |
exon 6 |
Frameshift |
|
8796_8797delAGinsT |
g. |
c.963_964delAGinsT |
exon 6 |
Frameshift |
|
8797delG |
g. |
c.964delG |
exon 6 |
Frameshift |
|
8807T>C |
g.9989T>C |
c.974T>C |
exon 6 |
Met303Thr |
Met325Thr |
8814delCA |
g.9996_9997del |
c.981_982del |
exon 6 |
frameshift |
Ser327fs |
8823C>G |
g.10005C>G |
c.988C>G |
exon 6 |
Tyr308Stop |
Tyr330Stop |
8857G>C |
g. |
c.1024G>C |
exon 6 |
Ala320Pro |
Ala342Pro |
8863G>T |
g.10045G>T |
c.1029+1G>T |
intron 6 |
Splicing defect |
- |
8863G>A |
g. |
c.1029+1G>A |
intron 6 |
Splicing defect |
|
8865_8868delAAGT |
g. |
c.1029+3_1029+6delAAGT |
intron 6 |
Splicing defect |
|
14019del29bp |
g.15201_15229del |
c.1030-12_1046del |
exon 7 |
splicing defect |
- |
14029AGGT>GCA |
g.15211AGGT>GCA |
c.1030-2AGGT>GCA |
exon 7 |
splicing defect |
- |
14030G>C |
g.15212G>C |
c.1030-1G>C |
intron 6 |
splicing defect |
- |
14034G>A |
g.15216G>A |
c.1033G>A |
exon 7 |
Gly323Arg |
Gly345Arg |
14037C>T |
g.15219C>T |
c.1036C>T |
exon 7 |
Gln324Stop |
Gln366Stop |
14043C>T |
g. |
c.1042C>T |
exon 7 |
Gln326Stop |
Gln348Stop |
14056A>T |
g. |
c.1055A>T |
exon 7 |
Asn330Ile |
Asn352Ile |
14059T>C |
g. |
c.1058T>C |
exon 7 |
Leu331Pro |
Leu353Pro |
14070delA |
g.15252delA |
c.1069delA |
exon 7 |
frameshift |
Val356fs |
14079_14085del7bp |
g. |
c.1078_1084del7bp |
exon 7 |
Frameshift |
|
14082C>T |
g.15264C>T |
c.1081C>T |
exon 7 |
Gln339Stop |
Gln361Stop |
14098delG |
g. |
c.1097delG |
exon 7 |
Frameshift |
|
14103G>T |
g.15285G>T |
c.1102G>T |
exon 7 |
Glu346Stop |
Glu368Stop |
14107delA |
g.15289del |
c.1106del |
exon 7 |
Frameshift |
Asp369fs |
14137T>C |
g.15319T>C |
c.1136T>C |
exon 7 |
Phe357Ser |
Phe379Ser |
14166T>C |
g. |
c.1165T>C |
exon 7 |
Ser367Pro |
Ser389Pro |
14181A>T |
g.15363A>T |
c.1180A>T |
exon 7 |
Thr372Pro |
Thr394Pro |
14185_14186insTA |
g.15367_15368insTA |
c.1184_1185insTA |
exon 7 |
Frameshift |
Leu396fs |
14185delT |
g. |
c.1184delT |
exon 7 |
Frameshift |
|
14188T>C |
g. |
c.1187T>C |
exon 7 |
Leu374Pro |
Leu396Pro |
14190_91insA |
g. |
c.1189_90insA |
exon 7 |
Frameshift |
|
14194T>C |
g. |
c.1193T>C |
exon 7 |
Leu376Pro |
Leu398Pro |
14194T>A |
g. |
c.1193T>A |
exon 7 |
Leu376Gln |
Leu398Gln |
14196C>G |
g.15378C>G |
c.1195C>G |
exon 7 |
Pro377Ala |
Pro399Ala |
14196C>T |
g.15378C>T |
c.1195C>T |
exon 7 |
Pro377Ser |
Pro399Ser |
14197C>T |
g.15379C>T |
c.1196C>T |
exon 7 |
Pro377Leu |
Pro399Leu |
14197C>G |
g.15379C>G |
c.1196C>G |
exon 7 |
Pro377Arg |
Pro399Arg |
14199C>T |
g. |
c.1198C>T |
exon 7 |
Arg378Cys |
Arg400Cys |
14206A>T |
g.15388A>T |
c.1205A>T |
exon 7 |
Lys380Ile |
Lys402Ile |
14213_14216delGACC |
g. |
c.1212_1215delGACC |
exon 7 |
Frameshift |
|
14217delA |
g. |
c.1216delA |
intron 7 |
Frameshift |
|
14221delA |
g. |
c.1220delA |
exon 7 |
Frameshift |
|
14224A>T |
g.16106A>T |
c.1223A>T |
exon 7 |
Asp386Val |
Asp408Val |
14227T>C |
g.15409T>C |
c.1226T>C |
exon 7 |
Met387Thr |
Met409Thr |
14227T>G |
g. |
c.1226T>G |
exon 7 |
Met387Arg |
Met409Arg |
14230T>C |
g. |
c.1229T>C |
exon 7 |
Leu388Pro |
Leu410Pro |
14233C>A |
g.15415C>A |
c.1232C>A |
exon 7 |
Ser389Stop |
Ser411Stop |
14246delA |
g. |
c.1245delA |
other |
Frameshift |
|
14251G>A |
g. |
c.1249+1G>A |
intron 7 |
Splicing defect |
|
14252delT |
g.15434delT |
c.1249+2delT |
intron 7 |
Val322_Leu394>Asnfs |
Val344_Leu416>Asnfs |
14252T>A |
g.15434T>A |
c.1249+2T>A |
intron 7 |
Splicing defect |
- |
16629G>A |
g. |
c.1250-13G>A |
intron 7 |
Splicing defect |
|
16640A>G |
g. |
c.1250-2A>G |
intron 7 |
Splicing defect |
|
16655delT |
g.17837delT |
c.1263delT |
exon 8 |
Frameshift |
Phe421fs |
16657delC |
g.17839del |
c.1265del |
exon 8 |
Frameshift |
Ser422fs |
16661_16662insA |
g.17843_17844insA |
c.1269_1270insA |
exon 8 |
Frameshift |
Tyr423fs |
16674T>C |
g. |
c.1282T>C |
exon 8 |
Cys406Arg |
Cys428Arg |
16676_16677delTG |
g.17858_17859del |
c.1284_1285del |
exon 8 |
Frameshift |
Cys428fs |
16698delC |
g.17880del |
c.1306del |
exon 8 |
Frameshift |
Leu436fs |
16707delT |
g.17889delT |
c.1315delT |
exon 8 |
Ser417frameshift stop 427 |
Ser439fs |
16708delC |
g.17890delC |
c.1316delC |
exon 8 |
frameshift |
Ser439fs |
16712T>C |
g. |
c.1322T>C |
exon 8 |
Met419Thr |
Met441Thr |
16716C>T |
g. |
c.1324C>T |
exon 8 |
Gln420Stop |
Gln442Stop |
16720A>G |
g.17920A>G |
c.1328A>G |
exon 8 |
His421Arg |
His443Arg |
16734G>C |
g. |
c.1342G>C |
exon 8 |
Glu426Gln |
Glu448Gln |
16735delAACinsT |
g.17917delAACinsT |
c.1343delAACinsT |
exon 8 |
frameshift |
Glu478fs |
16742-16743insA |
g.17924_17928insA |
c.1350_1351insA |
exon 8 |
Glu429frameshift stop 450 |
Glu451fs |
16743G>A |
g.17925G>A |
c.1351G>A |
exon 8 |
Glu429Lys |
Glu451Lys |
16745_16746delGA |
g. |
c.1353_1354delGA |
exon 8 |
Frameshift |
|
16749_16775dup |
g.17931_17957dup |
c.1339_1365dup |
exon 8 |
Frameshift |
Ile462fs |
16749_16750insTGT |
g.17931_17932insTGT |
c.1357_1358insTGT |
exon 8 |
other |
Thr450_Glu451insCys |
16752_16785del34bp |
g.17934_17977del |
c.1360_1393del |
exon 8 |
Frameshift |
Gly453fs |
16753T>A |
g.17935T>A |
c.1361T>A |
exon 8 |
Val432Glu |
Val455Glu |
16758_16761delGCGGinsA |
g. |
c.1366_1396delGCGGinsA |
exon 8 |
in frame |
|
16759C>A |
g.17941C>A |
c.1367C>A |
exon 8 |
Ala434Glu |
Ala456Glu |
16764G>A |
g.17946G>A |
c.1372G>A |
exon 8 |
Ala436Thr |
Ala458Thr |
16765C>T |
g.17947C>T |
c.1373C>T |
exon 8 |
Ala436Val |
Ala458Val |
16770T>C |
g.17952T>C |
c.1378T>C |
exon 8 |
Ser438Pro |
Ser460Pro |
16771_16790dup20bp |
g.17953_17972dup |
c.1383_1402dup |
exon 8 |
Frameshift |
Ala461fs |
16772C>T |
g. |
c.1380C>T |
exon 8 |
Ser438Ser |
Ser460Ser |
16774C>T |
g.17956C>T |
c.1364C>T |
exon 8 |
Ala439Val |
Ala461Val |
16775-16776insC |
g.17957_17958insC |
c.1383_1384insC |
exon 8 |
Ile440frameshift stop 450 |
Ile462fs |
16777T>G |
g.17959T>G |
c.1385T>G |
exon 8 |
Ile440Ser |
Ile462Ser |
16786G>A |
g.17968G>A |
c.1394G>A |
exon 8 |
Ala443Val |
Ala465Val |
16788C>T |
g.17970C>T |
c.1396C>T |
exon 8 |
Arg444Cys |
Arg466Cys |
16788C>A |
g.17970C>A |
c.1396C>A |
exon 8 |
Arg444Ser |
Arg466Ser |
16788C>G |
g.17970C>G |
c.1396C>G |
exon 8 |
Arg444Gly |
Arg466Gly |
16788delC |
g.17970delC |
c.1396delC |
exon 8 |
Frameshift |
Arg466fs |
16789G>A |
g.17971G>A |
c.1397G>A |
exon 8 |
Arg444His |
Arg466His |
16789G>C |
g.17971G>C |
c.1397G>C |
exon 8 |
Arg444Pro |
Arg466Pro |
16789G>T |
g.17971G>T |
c.1397G>T |
exon 8 |
Arg444Leu |
Arg466Leu |
16791A>C |
g.17973A>C |
c.1399A>C |
exon 8 |
Thr445Pro |
Thr467Pro |
16794delC |
g. |
c.1402delC |
exon 8 |
Frameshift |
|
16799_16819del21bp |
g. |
c.1407_1427del21bp |
exon 8 |
|
|
16809G>A |
g.17991G>A |
c.1417G>A |
exon 8 |
Val451Met |
Val473Met |
16810T>A |
g.17992T>A |
c.1418T>A |
exon 8 |
Val451Glu |
Val473Glu |
16810T>G |
g.17992T>G |
c.1418T>G |
exon 8 |
Val451Gly |
Val473Gly |
16812C>G |
g.17994C>G |
c.1420C>G |
exon 8 |
Gln452Glu |
Gln474Glu |
16812_16813insC |
g. |
c.1420_1421insC |
exon 8 |
Frameshift |
|
16813C>T |
g. |
c.1427C>T |
other |
Pro454Leu |
Pro476Leu |
16822T>C |
g.18004T>C |
c.1430T>C |
exon 8 |
Phe455Ser |
Phe477Ser |
16824delC |
g. |
c.1432delC |
exon 8 |
Frameshift |
|
16827T>C |
g.18009T>C |
c.1435T>C |
exon 8 |
Phe457Leu |
Phe479Leu |
16830G>A |
g.18012G>A |
c.1438G>A |
exon 8 |
Val458Met |
Val480Met |
16831T>G |
g. |
c.1439T>G |
exon 8 |
Val458Gly |
Val480Gly |
16834T>G |
g.18016T>G |
c.1442T>G |
exon 8 |
Leu459Arg |
Leu481Arg |
16834T>C |
g.18016T>C |
c.1442T>C |
exon 8 |
Leu459Pro |
Leu481Pro |
16838G>A |
g.18020G>T |
c.1446G>T |
exon 8 |
Trp460Stop |
Trp482Stop |
16842C>T |
g.18024C>T |
c.1450C>T |
exon 8 |
Gln462Stop |
Gln484Stop |
16858C>G |
g.18040C>G |
c.1466C>G |
exon 8 |
Pro467Arg |
Pro489Arg |
16861T>A |
g.18043T>A |
c.1469T>A |
exon 8 |
Val468Asp |
Val490Asp |
16867T>A |
g.18049T>A |
c.1475T>A |
exon 8 |
Met470Lys |
Met492Lys |
16869G>A |
g.18051G>A |
c.1477G>A |
exon 8 |
Gly471Arg |
Gly493Arg |
16870G>A |
g.18052G>A |
c.1478G>A |
exon 8 |
Gly471Glu |
Gly493Glu |
16872C>T |
g.18054C>T |
c.1480C>T |
exon 8 |
Arg472Stop |
Arg492Stop |
16880T>G |
g.18062T>G |
c.1488T>G |
exon 8 |
Tyr474Stop |
Tyr496Ter |
16884C>T |
g.18066C>T |
c.1493C>T |
exon 8 |
Pro476Ser |
Pro498Ser |
16885C>T |
g. |
c.1493C>T |
exon 8 |
Pro476Leu |
Pro498Leu |
16885C>G |
g.18067C>G |
c.1493T>A |
exon 8 |
Pro476Arg |
Pro498Arg |
16893T>A |
g.18075T>A |
c.1501G>A |
exon 8 |
Stop479Arg |
Stop501Arg |
|