17 | g.39665305_39665349dup | CA2637632087 | TCAP | c.-55_-11dup (n.-55_-11dup)
| gnomAD v4 |
17 | g.39665309_39665317dup | CA983629066 | TCAP | c.-51_-43dup (n.-51_-43dup)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665314G>A | CA8532804 | TCAP | c.-46G>A (n.-46G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665314G= | CA2259200462 | TCAP | c.-46G= (n.-46G=)
| |
17 | g.39665314G>T | CA2576253826 | TCAP | c.-46G>T (n.-46G>T)
| |
17 | g.39665315G>A | CA8532805 | TCAP | c.-45G>A (n.-45G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665315G= | CA2259200463 | TCAP | c.-45G= (n.-45G=)
| |
17 | g.39665316G>A | CA2259200465 | TCAP | c.-44G>A (n.-44G>A)
| dbSNP gnomAD v4 |
17 | g.39665316G>C | CA2637632098 | TCAP | c.-44G>C (n.-44G>C)
| gnomAD v4 |
17 | g.39665316G= | CA2259200464 | TCAP | c.-44G= (n.-44G=)
| |
17 | g.39665316G>T | CA2839352662 | TCAP | c.-44G>T (n.-44G>T)
| |
17 | g.39665317C= | CA2259200466 | TCAP | c.-43C= (n.-43C=)
| |
17 | g.39665317C>T | CA8532806 | TCAP | c.-43C>T (n.-43C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665320_39665323del | CA2637632101 | TCAP | c.-40_-37del (n.-40_-37del)
| gnomAD v4 |
17 | g.39665319A= | CA2259200467 | TCAP | c.-41A= (n.-41A=)
| |
17 | g.39665319A>C | CA2637632102 | TCAP | c.-41A>C (n.-41A>C)
| gnomAD v4 |
17 | g.39665319A>G | CA2259200468 | TCAP | c.-41A>G (n.-41A>G)
| dbSNP gnomAD v4 |
17 | g.39665320T>G | CA2637632103 | TCAP | c.-40T>G (n.-40T>G)
| gnomAD v4 |
17 | g.39665322T>A | CA290433606 | TCAP | c.-38T>A (n.-38T>A)
| dbSNP |
17 | g.39665322T= | CA2259200469 | TCAP | c.-38T= (n.-38T=)
| |
17 | g.39665324A>G | CA2637632104 | TCAP | c.-36A>G (n.-36A>G)
| gnomAD v4 |
17 | g.39665325A>G | CA2637632106 | TCAP | c.-35A>G (n.-35A>G)
| gnomAD v4 |
17 | g.39665326G>A | CA2637632107 | TCAP | c.-34G>A (n.-34G>A)
| gnomAD v4 |
17 | g.39665326G>T | CA2839804952 | TCAP | c.-34G>T (n.-34G>T)
| |
17 | g.39665327G>T | CA2842289613 | TCAP | c.-33G>T (n.-33G>T)
| |
17 | g.39665328G>A | CA2637632110 | TCAP | c.-32G>A (n.-32G>A)
| gnomAD v4 |
17 | g.39665328G>C | CA2637632111 | TCAP | c.-32G>C (n.-32G>C)
| gnomAD v4 |
17 | g.39665328G>T | CA2842289614 | TCAP | c.-32G>T (n.-32G>T)
| |
17 | g.39665329C>A | CA2637632112 | TCAP | c.-31C>A (n.-31C>A)
| gnomAD v4 |
17 | g.39665329C>T | CA2576253827 | TCAP | c.-31C>T (n.-31C>T)
| gnomAD v4 |
17 | g.39665330C= | CA2259200470 | TCAP | c.-30C= (n.-30C=)
| |
17 | g.39665330C>T | CA290433609 | TCAP | c.-30C>T (n.-30C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665331T>C | CA983629071 | TCAP | c.-29T>C (n.-29T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665331T= | CA2259200471 | TCAP | c.-29T= (n.-29T=)
| |
17 | g.39665332G>A | CA8532807 | TCAP | c.-28G>A (n.-28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665332G>C | CA8532808 | TCAP | c.-28G>C (n.-28G>C)
| dbSNP ExAC gnomAD v2 |
17 | g.39665332G= | CA2259200472 | TCAP | c.-28G= (n.-28G=)
| |
17 | g.39665332G>T | CA2840055276 | TCAP | c.-28G>T (n.-28G>T)
| |
17 | g.39665334del | CA2733572967 | TCAP | c.-26del (n.-26del)
| dbSNP |
17 | g.39665333G>A | CA2637632113 | TCAP | c.-27G>A (n.-27G>A)
| gnomAD v4 |
17 | g.39665333G>T | CA2842289615 | TCAP | c.-27G>T (n.-27G>T)
| |
17 | g.39665334G>A | CA8532809 | TCAP | c.-26G>A (n.-26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665334G= | CA2259200473 | TCAP | c.-26G= (n.-26G=)
| |
17 | g.39665334G>T | CA2637632114 | TCAP | c.-26G>T (n.-26G>T)
| gnomAD v4 |
17 | g.39665335del | CA2637632115 | TCAP | c.-25del (n.-25del)
| gnomAD v4 |
17 | g.39665335A= | CA2259200474 | TCAP | c.-25A= (n.-25A=)
| |
17 | g.39665335A>C | CA625938786 | TCAP | c.-25A>C (n.-25A>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665336G>A | CA8532810 | TCAP | c.-24G>A (n.-24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665336G= | CA2259200475 | TCAP | c.-24G= (n.-24G=)
| |
17 | g.39665336G>T | CA625938787 | TCAP | c.-24G>T (n.-24G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665339dup | CA2839352661 | TCAP | c.-21dup (n.-21dup)
| |
17 | g.39665337G>A | CA8532811 | TCAP | c.-23G>A (n.-23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665337G= | CA2259200476 | TCAP | c.-23G= (n.-23G=)
| |
17 | g.39665337G>T | CA2637632118 | TCAP | c.-23G>T (n.-23G>T)
| gnomAD v4 |
17 | g.39665338G>A | CA625938788 | TCAP | c.-22G>A (n.-22G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665338G= | CA2259200478 | TCAP | c.-22G= (n.-22G=)
| |
17 | g.39665338G>T | CA2637632119 | TCAP | c.-22G>T (n.-22G>T)
| gnomAD v4 |
17 | g.39665338_39665340delinsGGA | CA2259200477 | TCAP | c.-22_-20delinsGGA (n.-22_-20delinsGGA)
| |
17 | g.39665339G>A | CA2576253828 | TCAP | c.-21G>A (n.-21G>A)
| gnomAD v4 |
17 | g.39665339G>T | CA2842289616 | TCAP | c.-21G>T (n.-21G>T)
| |
17 | g.39665345_39665346del | CA771857750 | TCAP | c.-15_-14del (n.-15_-14del)
| dbSNP |
17 | g.39665340A= | CA2259200479 | TCAP | c.-20A= (n.-20A=)
| |
17 | g.39665340A>C | CA625938790 | TCAP | c.-20A>C (n.-20A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665340A>G | CA8532812 | TCAP | c.-20A>G (n.-20A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665341G>C | CA2259200481 | TCAP | c.-19G>C (n.-19G>C)
| dbSNP |
17 | g.39665341G= | CA2259200480 | TCAP | c.-19G= (n.-19G=)
| |
17 | g.39665341G>T | CA2259200482 | TCAP | c.-19G>T (n.-19G>T)
| dbSNP |
17 | g.39665342A= | CA2259200483 | TCAP | c.-18A= (n.-18A=)
| |
17 | g.39665342A>G | CA8532813 | TCAP | c.-18A>G (n.-18A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665343G>C | CA8532814 | TCAP | c.-17G>C (n.-17G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665343G= | CA2259200484 | TCAP | c.-17G= (n.-17G=)
| |
17 | g.39665344A= | CA2259200485 | TCAP | c.-16A= (n.-16A=)
| |
17 | g.39665344A>G | CA2259200486 | TCAP | c.-16A>G (n.-16A>G)
| dbSNP |
17 | g.39665345G>A | CA2637632124 | TCAP | c.-15G>A (n.-15G>A)
| gnomAD v4 |
17 | g.39665345G>C | CA983629096 | TCAP | c.-15G>C (n.-15G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665345G= | CA2259200487 | TCAP | c.-15G= (n.-15G=)
| |
17 | g.39665345G>T | CA2637632125 | TCAP | c.-15G>T (n.-15G>T)
| gnomAD v4 |
17 | g.39665347A= | CA2259200488 | TCAP | c.-13A= (n.-13A=)
| |
17 | g.39665347A>G | CA308816 | TCAP | c.-13A>G (n.-13A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665348T>A | CA290433656 | TCAP | c.-12T>A (n.-12T>A)
| dbSNP |
17 | g.39665348T>G | CA290433659 | TCAP | c.-12T>G (n.-12T>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665348T= | CA2259200489 | TCAP | c.-12T= (n.-12T=)
| |
17 | g.39665349G>A | CA2809442560 | TCAP | c.-11G>A (n.-11G>A)
| |
17 | g.39665351G>A | CA2836833685 | TCAP | c.-9G>A (n.-9G>A)
| |
17 | g.39665351G>T | CA2839804953 | TCAP | c.-9G>T (n.-9G>T)
| |
17 | g.39665352G>T | CA2637632131 | TCAP | c.-8G>T (n.-8G>T)
| gnomAD v4 |
17 | g.39665353A>C | CA2637632132 | TCAP | c.-7A>C (n.-7A>C)
| gnomAD v4 |
17 | g.39665354G>C | CA2809442561 | TCAP | c.-6G>C (n.-6G>C)
| |
17 | g.39665354G>T | CA2838955049 | TCAP | c.-6G>T (n.-6G>T)
| |
17 | g.39665355T>A | CA983629117 | TCAP | c.-5T>A (n.-5T>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665355T= | CA2259200490 | TCAP | c.-5T= (n.-5T=)
| |
17 | g.39665356G>A | CA2842289617 | TCAP | c.-4G>A (n.-4G>A)
| |
17 | g.39665356G>C | CA983629118 | TCAP | c.-4G>C (n.-4G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665356G= | CA2259200491 | TCAP | c.-4G= (n.-4G=)
| |
17 | g.39665359del | CA2637632133 | TCAP | c.-1del (n.-1del)
| gnomAD v4 |
17 | g.39665359C>G | CA2637632134 | TCAP | c.-1C>G (n.-1C>G)
| gnomAD v4 |
17 | g.39665360A= | CA2259200492 | TCAP | c.1A= (p.Met1=)
| |
17 | g.39665360A>C | CA399302697 | TCAP | c.1A>C (p.Met1Leu)
| |
17 | g.39665360A>G | CA399302695 | TCAP | c.1A>G (p.Met1Val)
| ClinVar dbSNP |
17 | g.39665360A>T | CA399302696 | TCAP | c.1A>T (p.Met1Leu)
| dbSNP gnomAD v4 |
17 | g.39665361T>A | CA399302698 | TCAP | c.2T>A (p.Met1Lys)
| |
17 | g.39665361T>C | CA399302699 | TCAP | c.2T>C (p.Met1Thr)
| |
17 | g.39665361T>G | CA399302700 | TCAP | c.2T>G (p.Met1Arg)
| |
17 | g.39665362G>A | CA399302701 | TCAP | c.3G>A (p.Met1Ile)
| |
17 | g.39665362G>C | CA399302702 | TCAP | c.3G>C (p.Met1Ile)
| |
17 | g.39665362G>T | CA399302703 | TCAP | c.3G>T (p.Met1Ile)
| |
17 | g.39665363G>A | CA399302704 | TCAP | c.4G>A (p.Ala2Thr)
| gnomAD v4 |
17 | g.39665363G>C | CA399302705 | TCAP | c.4G>C (p.Ala2Pro)
| |
17 | g.39665363G>T | CA399302706 | TCAP | c.4G>T (p.Ala2Ser)
| |
17 | g.39665364C>A | CA399302707 | TCAP | c.5C>A (p.Ala2Asp)
| |
17 | g.39665364C= | CA2259200493 | TCAP | c.5C= (p.Ala2=)
| |
17 | g.39665364C>G | CA399302708 | TCAP | c.5C>G (p.Ala2Gly)
| |
17 | g.39665364C>T | CA8532815 | TCAP | c.5C>T (p.Ala2Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665365T>A | CA499670323 | TCAP | c.6T>A (p.Ala2=)
| COSMIC |
17 | g.39665365T>C | CA499670324 | TCAP | c.6T>C (p.Ala2=)
| |
17 | g.39665365T>G | CA499670325 | TCAP | c.6T>G (p.Ala2=)
| |
17 | g.39665366A= | CA2259200494 | TCAP | c.7A= (p.Thr3=)
| |
17 | g.39665366A>C | CA399302709 | TCAP | c.7A>C (p.Thr3Pro)
| |
17 | g.39665366A>G | CA399302711 | TCAP | c.7A>G (p.Thr3Ala)
| dbSNP |
17 | g.39665366A>T | CA399302710 | TCAP | c.7A>T (p.Thr3Ser)
| |
17 | g.39665367C>A | CA8532816 | TCAP | c.8C>A (p.Thr3Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665367C= | CA2259200495 | TCAP | c.8C= (p.Thr3=)
| |
17 | g.39665367C>G | CA399302712 | TCAP | c.8C>G (p.Thr3Ser)
| |
17 | g.39665367C>T | CA399302713 | TCAP | c.8C>T (p.Thr3Ile)
| gnomAD v4 |
17 | g.39665368C>A | CA499670326 | TCAP | c.9C>A (p.Thr3=)
| |
17 | g.39665368C>G | CA499670327 | TCAP | c.9C>G (p.Thr3=)
| |
17 | g.39665368C>T | CA499670328 | TCAP | c.9C>T (p.Thr3=)
| COSMIC |
17 | g.39665369T>A | CA399302714 | TCAP | c.10T>A (p.Ser4Thr)
| |
17 | g.39665369T>C | CA399302715 | TCAP | c.10T>C (p.Ser4Pro)
| dbSNP |
17 | g.39665369T>G | CA399302716 | TCAP | c.10T>G (p.Ser4Ala)
| |
17 | g.39665369T= | CA2259200496 | TCAP | c.10T= (p.Ser4=)
| |
17 | g.39665370C>A | CA399302717 | TCAP | c.11C>A (p.Ser4Ter)
| |
17 | g.39665370C>G | CA399302718 | TCAP | c.11C>G (p.Ser4Ter)
| gnomAD v4 |
17 | g.39665370C>T | CA399302719 | TCAP | c.11C>T (p.Ser4Leu)
| gnomAD v4 |
17 | g.39665370_39665372delinsCAG | CA2259200497 | TCAP | c.11_13delinsCAG (p.Ser4=)
| |
17 | g.39665371A>C | CA499670329 | TCAP | c.12A>C (p.Ser4=)
| gnomAD v4 |
17 | g.39665371A>G | CA499670330 | TCAP | c.12A>G (p.Ser4=)
| gnomAD v4 |
17 | g.39665371A>T | CA499670331 | TCAP | c.12A>T (p.Ser4=)
| |
17 | g.39665373_39665374del | CA8532817 | TCAP | c.14_15del (p.Glu5AlafsTer11)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665372G>A | CA399302720 | TCAP | c.13G>A (p.Glu5Lys)
| |
17 | g.39665372G>C | CA399302721 | TCAP | c.13G>C (p.Glu5Gln)
| |
17 | g.39665372G>T | CA399302722 | TCAP | c.13G>T (p.Glu5Ter)
| |
17 | g.39665373A>C | CA399302723 | TCAP | c.14A>C (p.Glu5Ala)
| |
17 | g.39665373A>G | CA399302725 | TCAP | c.14A>G (p.Glu5Gly)
| ClinVar gnomAD v4 |
17 | g.39665373A>T | CA399302724 | TCAP | c.14A>T (p.Glu5Val)
| |
17 | g.39665374G>A | CA499670332 | TCAP | c.15G>A (p.Glu5=)
| |
17 | g.39665374G>C | CA399302726 | TCAP | c.15G>C (p.Glu5Asp)
| dbSNP gnomAD v4 |
17 | g.39665374G>T | CA399302727 | TCAP | c.15G>T (p.Glu5Asp)
| |
17 | g.39665375C>A | CA134917 | TCAP | c.16C>A (p.Leu6Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665375C= | CA2259200498 | TCAP | c.16C= (p.Leu6=)
| |
17 | g.39665375C>G | CA399302728 | TCAP | c.16C>G (p.Leu6Val)
| |
17 | g.39665375C>T | CA499670333 | TCAP | c.16C>T (p.Leu6=)
| gnomAD v4 |
17 | g.39665376T>A | CA399302729 | TCAP | c.17T>A (p.Leu6Gln)
| |
17 | g.39665376T>C | CA399302730 | TCAP | c.17T>C (p.Leu6Pro)
| |
17 | g.39665376T>G | CA399302731 | TCAP | c.17T>G (p.Leu6Arg)
| gnomAD v4 |
17 | g.39665377G>A | CA499670336 | TCAP | c.18G>A (p.Leu6=)
| |
17 | g.39665377G>C | CA499670334 | TCAP | c.18G>C (p.Leu6=)
| |
17 | g.39665377G>T | CA499670335 | TCAP | c.18G>T (p.Leu6=)
| |
17 | g.39665378A>C | CA399302732 | TCAP | c.19A>C (p.Ser7Arg)
| |
17 | g.39665378A>G | CA399302733 | TCAP | c.19A>G (p.Ser7Gly)
| ClinVar gnomAD v4 |
17 | g.39665378A>T | CA399302734 | TCAP | c.19A>T (p.Ser7Cys)
| |
17 | g.39665379G>A | CA399302737 | TCAP | c.20G>A (p.Ser7Asn)
| gnomAD v4 |
17 | g.39665379G>C | CA399302736 | TCAP | c.20G>C (p.Ser7Thr)
| |
17 | g.39665379G>T | CA399302735 | TCAP | c.20G>T (p.Ser7Ile)
| |
17 | g.39665380C>A | CA399302738 | TCAP | c.21C>A (p.Ser7Arg)
| |
17 | g.39665380C>G | CA399302739 | TCAP | c.21C>G (p.Ser7Arg)
| gnomAD v4 |
17 | g.39665380C>T | CA499670337 | TCAP | c.21C>T (p.Ser7=)
| |
17 | g.39665381T>A | CA399302740 | TCAP | c.22T>A (p.Cys8Ser)
| ClinVar dbSNP |
17 | g.39665381T>C | CA399302741 | TCAP | c.22T>C (p.Cys8Arg)
| ClinVar dbSNP |
17 | g.39665381T>G | CA399302742 | TCAP | c.22T>G (p.Cys8Gly)
| |
17 | g.39665381T= | CA2259200499 | TCAP | c.22T= (p.Cys8=)
| |
17 | g.39665382G>A | CA399302743 | TCAP | c.23G>A (p.Cys8Tyr)
| |
17 | g.39665382G>C | CA399302744 | TCAP | c.23G>C (p.Cys8Ser)
| gnomAD v4 |
17 | g.39665382G= | CA2259200500 | TCAP | c.23G= (p.Cys8=)
| |
17 | g.39665382G>T | CA290433660 | TCAP | c.23G>T (p.Cys8Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.39665383C>A | CA399302745 | TCAP | c.24C>A (p.Cys8Ter)
| |
17 | g.39665383C= | CA2259200501 | TCAP | c.24C= (p.Cys8=)
| |
17 | g.39665383C>G | CA399302746 | TCAP | c.24C>G (p.Cys8Trp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665383C>T | CA8532819 | TCAP | c.24C>T (p.Cys8=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665385_39665392dup | CA8532818 | TCAP | c.26_33dup (p.Glu12ArgfsTer20)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665384G>A | CA399302749 | TCAP | c.25G>A (p.Glu9Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665384G>C | CA399302748 | TCAP | c.25G>C (p.Glu9Gln)
| gnomAD v4 |
17 | g.39665384G= | CA2259200502 | TCAP | c.25G= (p.Glu9=)
| |
17 | g.39665384G>T | CA399302747 | TCAP | c.25G>T (p.Glu9Ter)
| ClinVar |
17 | g.39665384_39665390dup | CA278947 | TCAP | c.25_31dup (p.Ser11Ter)
| ClinVar dbSNP |
17 | g.39665388_39665396del | CA2576253829 | TCAP | c.29_37del (p.Val10_Glu12del)
| |
17 | g.39665385A>C | CA399302750 | TCAP | c.26A>C (p.Glu9Ala)
| |
17 | g.39665385A>G | CA399302751 | TCAP | c.26A>G (p.Glu9Gly)
| |
17 | g.39665385A>T | CA399302752 | TCAP | c.26A>T (p.Glu9Val)
| |
17 | g.39665386G>A | CA499670338 | TCAP | c.27G>A (p.Glu9=)
| |
17 | g.39665386G>C | CA399302753 | TCAP | c.27G>C (p.Glu9Asp)
| |
17 | g.39665386G>T | CA399302755 | TCAP | c.27G>T (p.Glu9Asp)
| |
17 | g.39665388_39665393dup | CA2637632149 | TCAP | c.29_34dup (p.Ser11_Glu12insValSer)
| gnomAD v4 |
17 | g.39665387G>A | CA399302758 | TCAP | c.28G>A (p.Val10Met)
| |
17 | g.39665387G>C | CA399302759 | TCAP | c.28G>C (p.Val10Leu)
| |
17 | g.39665387G>T | CA399302761 | TCAP | c.28G>T (p.Val10Leu)
| |
17 | g.39665387_39665401delinsGTGTCGGAGGAGAAC | CA2259200503 | TCAP | c.28_42delinsGTGTCGGAGGAGAAC (p.Val10=)
| |
17 | g.39665388T>A | CA399302763 | TCAP | c.29T>A (p.Val10Glu)
| |
17 | g.39665388T>C | CA399302764 | TCAP | c.29T>C (p.Val10Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665388T>G | CA399302766 | TCAP | c.29T>G (p.Val10Gly)
| dbSNP |
17 | g.39665388T= | CA2259200504 | TCAP | c.29T= (p.Val10=)
| |
17 | g.39665391_39665404del | CA983629131 | TCAP | c.32_45del (p.Ser11Ter)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665389G>A | CA499670339 | TCAP | c.30G>A (p.Val10=)
| gnomAD v4 COSMIC |
17 | g.39665389G>C | CA499670340 | TCAP | c.30G>C (p.Val10=)
| |
17 | g.39665389G>T | CA499670341 | TCAP | c.30G>T (p.Val10=)
| |
17 | g.39665390T>A | CA399302769 | TCAP | c.31T>A (p.Ser11Thr)
| |
17 | g.39665390T>C | CA399302771 | TCAP | c.31T>C (p.Ser11Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665390T>G | CA399302773 | TCAP | c.31T>G (p.Ser11Ala)
| |
17 | g.39665390T= | CA2259200505 | TCAP | c.31T= (p.Ser11=)
| |
17 | g.39665391C>A | CA163427 | TCAP | c.32C>A (p.Ser11Ter)
| ClinVar dbSNP |
17 | g.39665391C= | CA2259200506 | TCAP | c.32C= (p.Ser11=)
| |
17 | g.39665391C>G | CA8532820 | TCAP | c.32C>G (p.Ser11Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665391C>T | CA181033 | TCAP | c.32C>T (p.Ser11Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665391_39665394delinsCGGA | CA2259200507 | TCAP | c.32_35delinsCGGA (p.Ser11=)
| |
17 | g.39665392G>A | CA8532821 | TCAP | c.33G>A (p.Ser11=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665392G>C | CA499670343 | TCAP | c.33G>C (p.Ser11=)
| ClinVar gnomAD v4 |
17 | g.39665392G= | CA2259200508 | TCAP | c.33G= (p.Ser11=)
| |
17 | g.39665392G>T | CA499670342 | TCAP | c.33G>T (p.Ser11=)
| ClinVar dbSNP |
17 | g.39665393dup | CA658798823 | TCAP | c.34dup (p.Glu12GlyfsTer5)
| ClinVar dbSNP |
17 | g.39665393del | CA2573153698 | TCAP | c.34del (p.Glu12ArgfsTer17)
| ClinVar dbSNP |
17 | g.39665396_39665398del | CA134920 | TCAP | c.37_39del (p.Glu13del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39665393_39665407dup | CA2580093655 | TCAP | c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)
| ClinVar |
17 | g.39665393G>A | CA399302780 | TCAP | c.34G>A (p.Glu12Lys)
| |
17 | g.39665393G>C | CA399302783 | TCAP | c.34G>C (p.Glu12Gln)
| ClinVar gnomAD v4 |
17 | g.39665393G>T | CA399302785 | TCAP | c.34G>T (p.Glu12Ter)
| |
17 | g.39665394A= | CA2259200509 | TCAP | c.35A= (p.Glu12=)
| |
17 | g.39665394A>C | CA399302789 | TCAP | c.35A>C (p.Glu12Ala)
| gnomAD v4 |
17 | g.39665394A>G | CA399302787 | TCAP | c.35A>G (p.Glu12Gly)
| dbSNP gnomAD v4 |
17 | g.39665394A>T | CA399302786 | TCAP | c.35A>T (p.Glu12Val)
| |
17 | g.39665395G>A | CA499670344 | TCAP | c.36G>A (p.Glu12=)
| ClinVar dbSNP |
17 | g.39665395G>C | CA399302791 | TCAP | c.36G>C (p.Glu12Asp)
| COSMIC |
17 | g.39665395G>T | CA399302793 | TCAP | c.36G>T (p.Glu12Asp)
| |
17 | g.39665396G>A | CA290433695 | TCAP | c.37G>A (p.Glu13Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665396G>C | CA399302794 | TCAP | c.37G>C (p.Glu13Gln)
| |
17 | g.39665396G= | CA2259200510 | TCAP | c.37G= (p.Glu13=)
| |
17 | g.39665396G>T | CA399302795 | TCAP | c.37G>T (p.Glu13Ter)
| |
17 | g.39665399_39665407dup | CA2637632160 | TCAP | c.40_48dup (p.Glu16_Arg17insAsnCysGlu)
| gnomAD v4 |
17 | g.39665397A>C | CA399302799 | TCAP | c.38A>C (p.Glu13Ala)
| |
17 | g.39665397A>G | CA399302801 | TCAP | c.38A>G (p.Glu13Gly)
| |
17 | g.39665397A>T | CA399302800 | TCAP | c.38A>T (p.Glu13Val)
| |
17 | g.39665398G>A | CA499670345 | TCAP | c.39G>A (p.Glu13=)
| |
17 | g.39665398G>C | CA399302802 | TCAP | c.39G>C (p.Glu13Asp)
| dbSNP |
17 | g.39665398G= | CA2259200511 | TCAP | c.39G= (p.Glu13=)
| |
17 | g.39665398G>T | CA399302803 | TCAP | c.39G>T (p.Glu13Asp)
| |
17 | g.39665399A>C | CA399302805 | TCAP | c.40A>C (p.Asn14His)
| |
17 | g.39665399A>G | CA399302807 | TCAP | c.40A>G (p.Asn14Asp)
| |
17 | g.39665399A>T | CA399302809 | TCAP | c.40A>T (p.Asn14Tyr)
| |
17 | g.39665400A= | CA2259200512 | TCAP | c.41A= (p.Asn14=)
| |
17 | g.39665400A>C | CA399302811 | TCAP | c.41A>C (p.Asn14Thr)
| |
17 | g.39665400A>G | CA399302812 | TCAP | c.41A>G (p.Asn14Ser)
| |
17 | g.39665400A>T | CA399302814 | TCAP | c.41A>T (p.Asn14Ile)
| |
17 | g.39665401C>A | CA399302816 | TCAP | c.42C>A (p.Asn14Lys)
| |
17 | g.39665401C>G | CA399302818 | TCAP | c.42C>G (p.Asn14Lys)
| |
17 | g.39665401C>T | CA499670346 | TCAP | c.42C>T (p.Asn14=)
| gnomAD v4 |
17 | g.39665401_39665403delinsCTG | CA2259200513 | TCAP | c.42_44delinsCTG (p.Asn14=)
| |
17 | g.39665402_39665408dup | CA10606734 | TCAP | c.43_49dup (p.Arg17LeufsTer2)
| ClinVar dbSNP |
17 | g.39665402T>A | CA8532823 | TCAP | c.43T>A (p.Cys15Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665402T>C | CA290433709 | TCAP | c.43T>C (p.Cys15Arg)
| dbSNP gnomAD v4 |
17 | g.39665402T>G | CA399302824 | TCAP | c.43T>G (p.Cys15Gly)
| |
17 | g.39665402T= | CA2259200514 | TCAP | c.43T= (p.Cys15=)
| |
17 | g.39665404_39665405del | CA8532822 | TCAP | c.45_46del (p.Cys15Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665403G>A | CA399302827 | TCAP | c.44G>A (p.Cys15Tyr)
| |
17 | g.39665403G>C | CA399302828 | TCAP | c.44G>C (p.Cys15Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665403G= | CA2259200515 | TCAP | c.44G= (p.Cys15=)
| |
17 | g.39665403G>T | CA399302829 | TCAP | c.44G>T (p.Cys15Phe)
| |
17 | g.39665404T>A | CA399302831 | TCAP | c.45T>A (p.Cys15Ter)
| |
17 | g.39665404T>C | CA499670347 | TCAP | c.45T>C (p.Cys15=)
| gnomAD v4 |
17 | g.39665404T>G | CA399302833 | TCAP | c.45T>G (p.Cys15Trp)
| |
17 | g.39665405G>A | CA399302839 | TCAP | c.46G>A (p.Glu16Lys)
| ClinVar dbSNP gnomAD v4 |
17 | g.39665405G>C | CA399302835 | TCAP | c.46G>C (p.Glu16Gln)
| |
17 | g.39665405G>T | CA399302837 | TCAP | c.46G>T (p.Glu16Ter)
| |
17 | g.39665406A>C | CA399302841 | TCAP | c.47A>C (p.Glu16Ala)
| |
17 | g.39665406A>G | CA399302843 | TCAP | c.47A>G (p.Glu16Gly)
| |
17 | g.39665406A>T | CA399302844 | TCAP | c.47A>T (p.Glu16Val)
| |
17 | g.39665407G>A | CA499670348 | TCAP | c.48G>A (p.Glu16=)
| gnomAD v4 |
17 | g.39665407G>C | CA399302846 | TCAP | c.48G>C (p.Glu16Asp)
| |
17 | g.39665407G>T | CA399302847 | TCAP | c.48G>T (p.Glu16Asp)
| |
17 | g.39665409_39665410dup | CA2740095327 | TCAP | c.50_51dup (p.Arg18AlafsTer12)
| ClinVar |
17 | g.39665408C>A | CA399302851 | TCAP | c.49C>A (p.Arg17Ser)
| |
17 | g.39665408C= | CA2259200516 | TCAP | c.49C= (p.Arg17=)
| |
17 | g.39665408C>G | CA399302849 | TCAP | c.49C>G (p.Arg17Gly)
| gnomAD v4 |
17 | g.39665408C>T | CA352101 | TCAP | c.49C>T (p.Arg17Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665409G>A | CA8532825 | TCAP | c.50G>A (p.Arg17His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665409G>C | CA8532824 | TCAP | c.50G>C (p.Arg17Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665409G= | CA2259200517 | TCAP | c.50G= (p.Arg17=)
| |
17 | g.39665409G>T | CA399302852 | TCAP | c.50G>T (p.Arg17Leu)
| |
17 | g.39665409_39665410delinsCT | CA658798824 | TCAP | c.50_51delinsCT (p.Arg17Pro)
| ClinVar dbSNP |
17 | g.39665409_39665410delinsGC | CA2259200518 | TCAP | c.50_51delinsGC (p.Arg17=)
| |
17 | g.39665410C>A | CA499670349 | TCAP | c.51C>A (p.Arg17=)
| |
17 | g.39665410C= | CA2259200519 | TCAP | c.51C= (p.Arg17=)
| |
17 | g.39665410C>G | CA499670351 | TCAP | c.51C>G (p.Arg17=)
| |
17 | g.39665410C>T | CA499670350 | TCAP | c.51C>T (p.Arg17=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665411C>A | CA499670352 | TCAP | c.52C>A (p.Arg18=)
| |
17 | g.39665411C= | CA2259200520 | TCAP | c.52C= (p.Arg18=)
| |
17 | g.39665411C>G | CA399302853 | TCAP | c.52C>G (p.Arg18Gly)
| |
17 | g.39665411C>T | CA10587902 | TCAP | c.52C>T (p.Arg18Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665412G>A | CA8532826 | TCAP | c.53G>A (p.Arg18Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665412G>C | CA399302854 | TCAP | c.53G>C (p.Arg18Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665412G= | CA2259200521 | TCAP | c.53G= (p.Arg18=)
| |
17 | g.39665412G>T | CA399302855 | TCAP | c.53G>T (p.Arg18Leu)
| |
17 | g.39665413G>A | CA499670353 | TCAP | c.54G>A (p.Arg18=)
| dbSNP |
17 | g.39665413G>C | CA8532827 | TCAP | c.54G>C (p.Arg18=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665413G= | CA2259200522 | TCAP | c.54G= (p.Arg18=)
| |
17 | g.39665413G>T | CA499670354 | TCAP | c.54G>T (p.Arg18=)
| |
17 | g.39665414G>A | CA399302856 | TCAP | c.55G>A (p.Glu19Lys)
| gnomAD v4 |
17 | g.39665414G>C | CA399302857 | TCAP | c.55G>C (p.Glu19Gln)
| |
17 | g.39665414G>T | CA399302859 | TCAP | c.55G>T (p.Glu19Ter)
| |