17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80104857del | CA658795225 | GAA | c.271del (p.Asp91IlefsTer?)
| |
17 | g.80104857G>A | CA116586 | GAA | c.271G>A (p.Asp91Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104857G>C | CA401360578 | GAA | c.271G>C (p.Asp91His)
| |
17 | g.80104857G= | CA2277810686 | GAA | c.271G= (p.Asp91=)
| |
17 | g.80104857G>T | CA8814836 | GAA | c.271G>T (p.Asp91Tyr)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.80104857_80104858delinsAG | CA241285 | GAA | c.271_272delinsAG (p.Asp91Ser)
| ClinVar dbSNP |
17 | g.80104857_80104858delinsGA | CA2277810687 | GAA | c.271_272delinsGA (p.Asp91=)
| |
17 | g.80104858A>C | CA401360579 | GAA | c.272A>C (p.Asp91Ala)
| |
17 | g.80104858A>G | CA401360580 | GAA | c.272A>G (p.Asp91Gly)
| ClinVar gnomAD v4 |
17 | g.80104858A>T | CA401360581 | GAA | c.272A>T (p.Asp91Val)
| |
17 | g.80104859T>A | CA401360582 | GAA | c.273T>A (p.Asp91Glu)
| |
17 | g.80104859T>C | CA502402203 | GAA | c.273T>C (p.Asp91=)
| |
17 | g.80104859T>G | CA401360583 | GAA | c.273T>G (p.Asp91Glu)
| |
17 | g.80104860T>A | CA401360584 | GAA | c.274T>A (p.Cys92Ser)
| |
17 | g.80104860T>C | CA401360585 | GAA | c.274T>C (p.Cys92Arg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104860T>G | CA401360586 | GAA | c.274T>G (p.Cys92Gly)
| |
17 | g.80104860T= | CA2277810688 | GAA | c.274T= (p.Cys92=)
| |
17 | g.80104861G>A | CA401360589 | GAA | c.275G>A (p.Cys92Tyr)
| gnomAD v4 |
17 | g.80104861G>C | CA401360588 | GAA | c.275G>C (p.Cys92Ser)
| |
17 | g.80104861G>T | CA401360587 | GAA | c.275G>T (p.Cys92Phe)
| |
17 | g.80104862C>A | CA401360590 | GAA | c.276C>A (p.Cys92Ter)
| ClinVar dbSNP |
17 | g.80104862C= | CA2277810689 | GAA | c.276C= (p.Cys92=)
| |
17 | g.80104862C>G | CA401360591 | GAA | c.276C>G (p.Cys92Trp)
| |
17 | g.80104862C>T | CA502402204 | GAA | c.276C>T (p.Cys92=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104863G>A | CA8814837 | GAA | c.277G>A (p.Ala93Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104863G>C | CA401360593 | GAA | c.277G>C (p.Ala93Pro)
| gnomAD v4 |
17 | g.80104863G= | CA2277810690 | GAA | c.277G= (p.Ala93=)
| |
17 | g.80104863G>T | CA401360592 | GAA | c.277G>T (p.Ala93Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104864C>A | CA401360594 | GAA | c.278C>A (p.Ala93Asp)
| gnomAD v4 |
17 | g.80104864C= | CA2277810691 | GAA | c.278C= (p.Ala93=)
| |
17 | g.80104864C>G | CA401360595 | GAA | c.278C>G (p.Ala93Gly)
| |
17 | g.80104864C>T | CA401360596 | GAA | c.278C>T (p.Ala93Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104867del | CA645599494 | GAA | c.281del (p.Pro94LeufsTer?)
| COSMIC |
17 | g.80104865C>A | CA502402206 | GAA | c.279C>A (p.Ala93=)
| |
17 | g.80104865C>G | CA502402207 | GAA | c.279C>G (p.Ala93=)
| |
17 | g.80104865C>T | CA502402208 | GAA | c.279C>T (p.Ala93=)
| gnomAD v4 |
17 | g.80104866C>A | CA8814838 | GAA | c.280C>A (p.Pro94Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104866C= | CA2277810692 | GAA | c.280C= (p.Pro94=)
| |
17 | g.80104866C>G | CA401360597 | GAA | c.280C>G (p.Pro94Ala)
| |
17 | g.80104866C>T | CA401360598 | GAA | c.280C>T (p.Pro94Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104866_80104868delinsCCT | CA2277810693 | GAA | c.280_282delinsCCT (p.Pro94=)
| |
17 | g.80104867C>A | CA401360599 | GAA | c.281C>A (p.Pro94His)
| |
17 | g.80104867C>G | CA401360600 | GAA | c.281C>G (p.Pro94Arg)
| |
17 | g.80104867C>T | CA401360601 | GAA | c.281C>T (p.Pro94Leu)
| |
17 | g.80104867_80104868del | CA16041881 | GAA | c.281_282del (p.Pro94ArgfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104868del | CA2499224998 | GAA | c.282del (p.Asp95ThrfsTer?)
| ClinVar dbSNP |
17 | g.80104868T>A | CA502402209 | GAA | c.282T>A (p.Pro94=)
| |
17 | g.80104868T>C | CA502402210 | GAA | c.282T>C (p.Pro94=)
| ClinVar dbSNP |
17 | g.80104868T>G | CA502402211 | GAA | c.282T>G (p.Pro94=)
| |
17 | g.80104868T= | CA2277810694 | GAA | c.282T= (p.Pro94=)
| |
17 | g.80104869G>A | CA401360604 | GAA | c.283G>A (p.Asp95Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104869G>C | CA401360603 | GAA | c.283G>C (p.Asp95His)
| |
17 | g.80104869G= | CA2277810695 | GAA | c.283G= (p.Asp95=)
| |
17 | g.80104869G>T | CA401360602 | GAA | c.283G>T (p.Asp95Tyr)
| COSMIC |
17 | g.80104870A>C | CA401360605 | GAA | c.284A>C (p.Asp95Ala)
| |
17 | g.80104870A>G | CA401360606 | GAA | c.284A>G (p.Asp95Gly)
| |
17 | g.80104870A>T | CA401360607 | GAA | c.284A>T (p.Asp95Val)
| |
17 | g.80104871C>A | CA401360608 | GAA | c.285C>A (p.Asp95Glu)
| |
17 | g.80104871C= | CA2277810696 | GAA | c.285C= (p.Asp95=)
| |
17 | g.80104871C>G | CA401360609 | GAA | c.285C>G (p.Asp95Glu)
| dbSNP |
17 | g.80104871C>T | CA8814839 | GAA | c.285C>T (p.Asp95=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104872A= | CA2277810697 | GAA | c.286A= (p.Lys96=)
| |
17 | g.80104872A>C | CA401360610 | GAA | c.286A>C (p.Lys96Gln)
| dbSNP gnomAD v4 |
17 | g.80104872A>G | CA8814840 | GAA | c.286A>G (p.Lys96Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104872A>T | CA401360611 | GAA | c.286A>T (p.Lys96Ter)
| |
17 | g.80104873A>C | CA401360612 | GAA | c.287A>C (p.Lys96Thr)
| |
17 | g.80104873A>G | CA401360613 | GAA | c.287A>G (p.Lys96Arg)
| |
17 | g.80104873A>T | CA401360614 | GAA | c.287A>T (p.Lys96Met)
| |
17 | g.80104874G>A | CA502402212 | GAA | c.288G>A (p.Lys96=)
| |
17 | g.80104874G>C | CA401360616 | GAA | c.288G>C (p.Lys96Asn)
| gnomAD v4 |
17 | g.80104874G>T | CA401360615 | GAA | c.288G>T (p.Lys96Asn)
| |
17 | g.80104875G>A | CA401360617 | GAA | c.289G>A (p.Ala97Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104875G>C | CA401360618 | GAA | c.289G>C (p.Ala97Pro)
| |
17 | g.80104875G>T | CA401360619 | GAA | c.289G>T (p.Ala97Ser)
| gnomAD v4 |
17 | g.80104876C>A | CA401360620 | GAA | c.290C>A (p.Ala97Asp)
| |
17 | g.80104876C= | CA2277810698 | GAA | c.290C= (p.Ala97=)
| |
17 | g.80104876C>G | CA401360621 | GAA | c.290C>G (p.Ala97Gly)
| |
17 | g.80104876C>T | CA401360622 | GAA | c.290C>T (p.Ala97Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104877C>A | CA502402215 | GAA | c.291C>A (p.Ala97=)
| |
17 | g.80104877C>G | CA502402213 | GAA | c.291C>G (p.Ala97=)
| |
17 | g.80104877C>T | CA502402214 | GAA | c.291C>T (p.Ala97=)
| |
17 | g.80104878A= | CA2277810699 | GAA | c.292A= (p.Ile98=)
| |
17 | g.80104878A>C | CA401360623 | GAA | c.292A>C (p.Ile98Leu)
| |
17 | g.80104878A>G | CA401360624 | GAA | c.292A>G (p.Ile98Val)
| gnomAD v4 |
17 | g.80104878A>T | CA8814841 | GAA | c.292A>T (p.Ile98Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80104879T>A | CA401360625 | GAA | c.293T>A (p.Ile98Asn)
| |
17 | g.80104879T>C | CA401360626 | GAA | c.293T>C (p.Ile98Thr)
| |
17 | g.80104879T>G | CA401360627 | GAA | c.293T>G (p.Ile98Ser)
| |
17 | g.80104880C>A | CA502402216 | GAA | c.294C>A (p.Ile98=)
| |
17 | g.80104880C>G | CA401360628 | GAA | c.294C>G (p.Ile98Met)
| |
17 | g.80104880C>T | CA502402217 | GAA | c.294C>T (p.Ile98=)
| gnomAD v4 |
17 | g.80104881_80104900del | CA2640275279 | GAA | c.295_314del (p.Thr99ProfsTer?)
| gnomAD v4 |
17 | g.80104881A>C | CA401360632 | GAA | c.295A>C (p.Thr99Pro)
| gnomAD v4 |
17 | g.80104881A>G | CA401360629 | GAA | c.295A>G (p.Thr99Ala)
| |
17 | g.80104881A>T | CA401360630 | GAA | c.295A>T (p.Thr99Ser)
| |
17 | g.80104882C>A | CA401360634 | GAA | c.296C>A (p.Thr99Asn)
| |
17 | g.80104882C= | CA2277810700 | GAA | c.296C= (p.Thr99=)
| |
17 | g.80104882C>G | CA401360636 | GAA | c.296C>G (p.Thr99Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104882C>T | CA401360637 | GAA | c.296C>T (p.Thr99Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104883C>A | CA502402218 | GAA | c.297C>A (p.Thr99=)
| |
17 | g.80104883C= | CA2277810701 | GAA | c.297C= (p.Thr99=)
| |
17 | g.80104883C>G | CA16607528 | GAA | c.297C>G (p.Thr99=)
| ClinVar dbSNP |
17 | g.80104883C>T | CA8814842 | GAA | c.297C>T (p.Thr99=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104884C>A | CA401360641 | GAA | c.298C>A (p.Gln100Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104884C= | CA2277810702 | GAA | c.298C= (p.Gln100=)
| |
17 | g.80104884C>G | CA8814843 | GAA | c.298C>G (p.Gln100Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104884C>T | CA401360643 | GAA | c.298C>T (p.Gln100Ter)
| |
17 | g.80104885A= | CA2277810703 | GAA | c.299A= (p.Gln100=)
| |
17 | g.80104885A>C | CA401360646 | GAA | c.299A>C (p.Gln100Pro)
| |
17 | g.80104885A>G | CA401360648 | GAA | c.299A>G (p.Gln100Arg)
| dbSNP gnomAD v4 |
17 | g.80104885A>T | CA401360650 | GAA | c.299A>T (p.Gln100Leu)
| |
17 | g.80104886G>A | CA502402219 | GAA | c.300G>A (p.Gln100=)
| ClinVar dbSNP |
17 | g.80104886G>C | CA401360652 | GAA | c.300G>C (p.Gln100His)
| |
17 | g.80104886G>T | CA401360654 | GAA | c.300G>T (p.Gln100His)
| gnomAD v4 |
17 | g.80104887G>A | CA401360658 | GAA | c.301G>A (p.Glu101Lys)
| |
17 | g.80104887G>C | CA401360660 | GAA | c.301G>C (p.Glu101Gln)
| |
17 | g.80104887G>T | CA401360656 | GAA | c.301G>T (p.Glu101Ter)
| ClinVar dbSNP |
17 | g.80104888A>C | CA401360662 | GAA | c.302A>C (p.Glu101Ala)
| |
17 | g.80104888A>G | CA401360664 | GAA | c.302A>G (p.Glu101Gly)
| |
17 | g.80104888A>T | CA401360665 | GAA | c.302A>T (p.Glu101Val)
| |
17 | g.80104889A>C | CA401360667 | GAA | c.303A>C (p.Glu101Asp)
| |
17 | g.80104889A>G | CA502402220 | GAA | c.303A>G (p.Glu101=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104889A>T | CA401360668 | GAA | c.303A>T (p.Glu101Asp)
| |
17 | g.80104890C>A | CA401360670 | GAA | c.304C>A (p.Gln102Lys)
| |
17 | g.80104890C= | CA2277810704 | GAA | c.304C= (p.Gln102=)
| |
17 | g.80104890C>G | CA401360672 | GAA | c.304C>G (p.Gln102Glu)
| |
17 | g.80104890C>T | CA401360674 | GAA | c.304C>T (p.Gln102Ter)
| ClinVar dbSNP gnomAD v2 |
17 | g.80104891A>C | CA401360675 | GAA | c.305A>C (p.Gln102Pro)
| |
17 | g.80104891A>G | CA401360677 | GAA | c.305A>G (p.Gln102Arg)
| gnomAD v4 |
17 | g.80104891A>T | CA401360679 | GAA | c.305A>T (p.Gln102Leu)
| |
17 | g.80104892G>A | CA502402221 | GAA | c.306G>A (p.Gln102=)
| gnomAD v4 |
17 | g.80104892G>C | CA401360681 | GAA | c.306G>C (p.Gln102His)
| |
17 | g.80104892G>T | CA401360682 | GAA | c.306G>T (p.Gln102His)
| |
17 | g.80104893T>A | CA401360687 | GAA | c.307T>A (p.Cys103Ser)
| |
17 | g.80104893T>C | CA401360685 | GAA | c.307T>C (p.Cys103Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104893T>G | CA220404 | GAA | c.307T>G (p.Cys103Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104893T= | CA2277810705 | GAA | c.307T= (p.Cys103=)
| |
17 | g.80104894G>A | CA401360690 | GAA | c.308G>A (p.Cys103Tyr)
| ClinVar dbSNP |
17 | g.80104894G>C | CA401360691 | GAA | c.308G>C (p.Cys103Ser)
| |
17 | g.80104894G>T | CA401360693 | GAA | c.308G>T (p.Cys103Phe)
| |
17 | g.80104895C>A | CA401360695 | GAA | c.309C>A (p.Cys103Ter)
| ClinVar dbSNP |
17 | g.80104895C= | CA2277810706 | GAA | c.309C= (p.Cys103=)
| |
17 | g.80104895C>G | CA401360696 | GAA | c.309C>G (p.Cys103Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.80104895C>T | CA8814844 | GAA | c.309C>T (p.Cys103=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104895_80104898delinsCGAG | CA2277810707 | GAA | c.309_312delinsCGAG (p.Cys103=)
| |
17 | g.80104896G>A | CA8814846 | GAA | c.310G>A (p.Glu104Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104896G>C | CA8814845 | GAA | c.310G>C (p.Glu104Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104896G= | CA2277810708 | GAA | c.310G= (p.Glu104=)
| |
17 | g.80104896G>T | CA401360700 | GAA | c.310G>T (p.Glu104Ter)
| |
17 | g.80104897_80104899del | CA916082437 | GAA | c.311_313del (p.Glu104del)
| ClinVar dbSNP |
17 | g.80104897A>C | CA401360702 | GAA | c.311A>C (p.Glu104Ala)
| |
17 | g.80104897A>G | CA401360703 | GAA | c.311A>G (p.Glu104Gly)
| |
17 | g.80104897A>T | CA401360704 | GAA | c.311A>T (p.Glu104Val)
| |
17 | g.80104898G>A | CA502402222 | GAA | c.312G>A (p.Glu104=)
| dbSNP gnomAD v2 |
17 | g.80104898G>C | CA401360707 | GAA | c.312G>C (p.Glu104Asp)
| |
17 | g.80104898G= | CA2277810709 | GAA | c.312G= (p.Glu104=)
| |
17 | g.80104898G>T | CA401360709 | GAA | c.312G>T (p.Glu104Asp)
| gnomAD v4 |
17 | g.80104899dup | CA2840238192 | GAA | c.313dup (p.Ala105GlyfsTer?)
| |
17 | g.80104899G>A | CA401360713 | GAA | c.313G>A (p.Ala105Thr)
| gnomAD v4 |
17 | g.80104899G>C | CA401360715 | GAA | c.313G>C (p.Ala105Pro)
| |
17 | g.80104899G>T | CA401360712 | GAA | c.313G>T (p.Ala105Ser)
| gnomAD v4 |
17 | g.80104900C>A | CA8814847 | GAA | c.314C>A (p.Ala105Asp)
| dbSNP ExAC |
17 | g.80104900C= | CA2277810710 | GAA | c.314C= (p.Ala105=)
| |
17 | g.80104900C>G | CA401360718 | GAA | c.314C>G (p.Ala105Gly)
| |
17 | g.80104900C>T | CA8814848 | GAA | c.314C>T (p.Ala105Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104902dup | CA2840238193 | GAA | c.316dup (p.Arg106ProfsTer?)
| |
17 | g.80104901C>A | CA502402223 | GAA | c.315C>A (p.Ala105=)
| |
17 | g.80104901C>G | CA502402224 | GAA | c.315C>G (p.Ala105=)
| |
17 | g.80104901C>T | CA502402225 | GAA | c.315C>T (p.Ala105=)
| |
17 | g.80104902C>A | CA401360722 | GAA | c.316C>A (p.Arg106Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104902C= | CA2277810711 | GAA | c.316C= (p.Arg106=)
| |
17 | g.80104902C>G | CA401360724 | GAA | c.316C>G (p.Arg106Gly)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104902C>T | CA294887086 | GAA | c.316C>T (p.Arg106Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104903G>A | CA8814849 | GAA | c.317G>A (p.Arg106His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104903G>C | CA401360727 | GAA | c.317G>C (p.Arg106Pro)
| |
17 | g.80104903G= | CA2277810712 | GAA | c.317G= (p.Arg106=)
| |
17 | g.80104903G>T | CA401360728 | GAA | c.317G>T (p.Arg106Leu)
| |
17 | g.80104904_80104909dup | CA2573154941 | GAA | c.318_323dup (p.Cys108_Cys109insGlyCys)
| ClinVar dbSNP |
17 | g.80104904C>A | CA502402226 | GAA | c.318C>A (p.Arg106=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104904C= | CA2277810713 | GAA | c.318C= (p.Arg106=)
| |
17 | g.80104904C>G | CA502402227 | GAA | c.318C>G (p.Arg106=)
| |
17 | g.80104904C>T | CA241288 | GAA | c.318C>T (p.Arg106=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80104905G>A | CA8814850 | GAA | c.319G>A (p.Gly107Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104905G>C | CA401360731 | GAA | c.319G>C (p.Gly107Arg)
| |
17 | g.80104905G= | CA2277810714 | GAA | c.319G= (p.Gly107=)
| |
17 | g.80104905G>T | CA294887102 | GAA | c.319G>T (p.Gly107Cys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104906dup | CA2839072313 | GAA | c.320dup (p.Cys108LeufsTer?)
| |
17 | g.80104906G>A | CA401360737 | GAA | c.320G>A (p.Gly107Asp)
| dbSNP gnomAD v2 |
17 | g.80104906G>C | CA401360734 | GAA | c.320G>C (p.Gly107Ala)
| |
17 | g.80104906G= | CA2277810715 | GAA | c.320G= (p.Gly107=)
| |
17 | g.80104906G>T | CA401360736 | GAA | c.320G>T (p.Gly107Val)
| |
17 | g.80104907C>A | CA502402228 | GAA | c.321C>A (p.Gly107=)
| |
17 | g.80104907C>G | CA502402230 | GAA | c.321C>G (p.Gly107=)
| |
17 | g.80104907C>T | CA502402229 | GAA | c.321C>T (p.Gly107=)
| |
17 | g.80104908T>A | CA401360738 | GAA | c.322T>A (p.Cys108Ser)
| ClinVar dbSNP |
17 | g.80104908T>C | CA401360740 | GAA | c.322T>C (p.Cys108Arg)
| |
17 | g.80104908T>G | CA401360742 | GAA | c.322T>G (p.Cys108Gly)
| |
17 | g.80104908T= | CA2277810716 | GAA | c.322T= (p.Cys108=)
| |
17 | g.80104909G>A | CA401360744 | GAA | c.323G>A (p.Cys108Tyr)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104909G>C | CA401360745 | GAA | c.323G>C (p.Cys108Ser)
| |
17 | g.80104909G= | CA2277810717 | GAA | c.323G= (p.Cys108=)
| |
17 | g.80104909G>T | CA401360747 | GAA | c.323G>T (p.Cys108Phe)
| gnomAD v4 |
17 | g.80104909_80104910delinsAC | CA2695227063 | GAA | c.323_324delinsAC (p.Cys108Tyr)
| |
17 | g.80104910T>A | CA401360749 | GAA | c.324T>A (p.Cys108Ter)
| dbSNP gnomAD v4 |
17 | g.80104910T>C | CA145781 | GAA | c.324T>C (p.Cys108=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104910T>G | CA401360751 | GAA | c.324T>G (p.Cys108Trp)
| dbSNP |
17 | g.80104910T= | CA2277810718 | GAA | c.324T= (p.Cys108=)
| |
17 | g.80104911T>A | CA401360754 | GAA | c.325T>A (p.Cys109Ser)
| |
17 | g.80104911T>C | CA294887113 | GAA | c.325T>C (p.Cys109Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104911T>G | CA401360756 | GAA | c.325T>G (p.Cys109Gly)
| |
17 | g.80104911T= | CA2277810719 | GAA | c.325T= (p.Cys109=)
| |
17 | g.80104912G>A | CA401360760 | GAA | c.326G>A (p.Cys109Tyr)
| gnomAD v4 |
17 | g.80104912G>C | CA401360761 | GAA | c.326G>C (p.Cys109Ser)
| |
17 | g.80104912G>T | CA401360758 | GAA | c.326G>T (p.Cys109Phe)
| |
17 | g.80104913C>A | CA401360765 | GAA | c.327C>A (p.Cys109Ter)
| gnomAD v4 |
17 | g.80104913C>G | CA401360763 | GAA | c.327C>G (p.Cys109Trp)
| |
17 | g.80104913C>T | CA502402231 | GAA | c.327C>T (p.Cys109=)
| |
17 | g.80104914T>A | CA401360768 | GAA | c.328T>A (p.Tyr110Asn)
| |
17 | g.80104914T>C | CA8814851 | GAA | c.328T>C (p.Tyr110His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104914T>G | CA401360769 | GAA | c.328T>G (p.Tyr110Asp)
| |
17 | g.80104914T= | CA2277810720 | GAA | c.328T= (p.Tyr110=)
| |
17 | g.80104915A= | CA2277810721 | GAA | c.329A= (p.Tyr110=)
| |
17 | g.80104915A>C | CA401360770 | GAA | c.329A>C (p.Tyr110Ser)
| |
17 | g.80104915A>G | CA401360774 | GAA | c.329A>G (p.Tyr110Cys)
| dbSNP |
17 | g.80104915A>T | CA401360772 | GAA | c.329A>T (p.Tyr110Phe)
| |
17 | g.80104916C>A | CA401360775 | GAA | c.330C>A (p.Tyr110Ter)
| |
17 | g.80104916C>G | CA401360777 | GAA | c.330C>G (p.Tyr110Ter)
| |
17 | g.80104916C>T | CA502402232 | GAA | c.330C>T (p.Tyr110=)
| ClinVar gnomAD v4 |
17 | g.80104917A= | CA2277810722 | GAA | c.331A= (p.Ile111=)
| |
17 | g.80104917A>C | CA401360779 | GAA | c.331A>C (p.Ile111Leu)
| |
17 | g.80104917A>G | CA401360780 | GAA | c.331A>G (p.Ile111Val)
| dbSNP gnomAD v4 |
17 | g.80104917A>T | CA401360782 | GAA | c.331A>T (p.Ile111Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104918T>A | CA401360783 | GAA | c.332T>A (p.Ile111Asn)
| |
17 | g.80104918T>C | CA401360784 | GAA | c.332T>C (p.Ile111Thr)
| |
17 | g.80104918T>G | CA401360785 | GAA | c.332T>G (p.Ile111Ser)
| |
17 | g.80104919C>A | CA502402233 | GAA | c.333C>A (p.Ile111=)
| |
17 | g.80104919C= | CA2277810723 | GAA | c.333C= (p.Ile111=)
| |
17 | g.80104919C>G | CA401360786 | GAA | c.333C>G (p.Ile111Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104919C>T | CA502402234 | GAA | c.333C>T (p.Ile111=)
| ClinVar dbSNP gnomAD v2 |
17 | g.80104920C>A | CA401360789 | GAA | c.334C>A (p.Pro112Thr)
| gnomAD v4 |
17 | g.80104920C= | CA2277810724 | GAA | c.334C= (p.Pro112=)
| |
17 | g.80104920C>G | CA401360791 | GAA | c.334C>G (p.Pro112Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104920C>T | CA401360792 | GAA | c.334C>T (p.Pro112Ser)
| dbSNP |
17 | g.80104921C>A | CA401360795 | GAA | c.335C>A (p.Pro112His)
| |
17 | g.80104921C>G | CA401360796 | GAA | c.335C>G (p.Pro112Arg)
| |
17 | g.80104921C>T | CA401360798 | GAA | c.335C>T (p.Pro112Leu)
| gnomAD v4 |
17 | g.80104922T>A | CA294887125 | GAA | c.336T>A (p.Pro112=)
| dbSNP |
17 | g.80104922T>C | CA502402235 | GAA | c.336T>C (p.Pro112=)
| |
17 | g.80104922T>G | CA502402236 | GAA | c.336T>G (p.Pro112=)
| |
17 | g.80104922T= | CA2277810725 | GAA | c.336T= (p.Pro112=)
| |
17 | g.80104923G>A | CA401360801 | GAA | c.337G>A (p.Ala113Thr)
| |
17 | g.80104923G>C | CA401360803 | GAA | c.337G>C (p.Ala113Pro)
| |
17 | g.80104923G>T | CA401360804 | GAA | c.337G>T (p.Ala113Ser)
| |
17 | g.80104924C>A | CA401360805 | GAA | c.338C>A (p.Ala113Glu)
| |
17 | g.80104924C>G | CA401360807 | GAA | c.338C>G (p.Ala113Gly)
| |
17 | g.80104924C>T | CA401360809 | GAA | c.338C>T (p.Ala113Val)
| |
17 | g.80104925A>C | CA502402237 | GAA | c.339A>C (p.Ala113=)
| |
17 | g.80104925A>G | CA502402238 | GAA | c.339A>G (p.Ala113=)
| gnomAD v4 |
17 | g.80104925A>T | CA502402239 | GAA | c.339A>T (p.Ala113=)
| |
17 | g.80104926A>C | CA401360810 | GAA | c.340A>C (p.Lys114Gln)
| |
17 | g.80104926A>G | CA401360811 | GAA | c.340A>G (p.Lys114Glu)
| |
17 | g.80104926A>T | CA401360813 | GAA | c.340A>T (p.Lys114Ter)
| |
17 | g.80104926_80104933del | CA2840238194 | GAA | c.340_347del (p.Lys114AlafsTer29)
| |
17 | g.80104926_80104927insT | CA658795226 | GAA | c.340_341insT (p.Lys114IlefsTer?)
| ClinVar dbSNP |
17 | g.80104927A= | CA2277810726 | GAA | c.341A= (p.Lys114=)
| |
17 | g.80104927A>C | CA401360815 | GAA | c.341A>C (p.Lys114Thr)
| gnomAD v4 |
17 | g.80104927A>G | CA8814852 | GAA | c.341A>G (p.Lys114Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104927A>T | CA401360817 | GAA | c.341A>T (p.Lys114Met)
| |
17 | g.80104927_80104928delinsAG | CA2277810727 | GAA | c.341_342delinsAG (p.Lys114=)
| |
17 | g.80104928del | CA658798976 | GAA | c.342del (p.Lys114AsnfsTer28)
| ClinVar dbSNP |
17 | g.80104928G>A | CA502402240 | GAA | c.342G>A (p.Lys114=)
| |
17 | g.80104928G>C | CA401360820 | GAA | c.342G>C (p.Lys114Asn)
| |
17 | g.80104928G>T | CA401360821 | GAA | c.342G>T (p.Lys114Asn)
| gnomAD v4 |
17 | g.80104929C>A | CA401360823 | GAA | c.343C>A (p.Gln115Lys)
| |
17 | g.80104929C= | CA2277810728 | GAA | c.343C= (p.Gln115=)
| |
17 | g.80104929C>G | CA401360825 | GAA | c.343C>G (p.Gln115Glu)
| |
17 | g.80104929C>T | CA274228 | GAA | c.343C>T (p.Gln115Ter)
| ClinVar dbSNP |
17 | g.80104930A>C | CA401360827 | GAA | c.344A>C (p.Gln115Pro)
| |
17 | g.80104930A>G | CA401360829 | GAA | c.344A>G (p.Gln115Arg)
| |
17 | g.80104930A>T | CA401360831 | GAA | c.344A>T (p.Gln115Leu)
| |
17 | g.80104931G>A | CA502402241 | GAA | c.345G>A (p.Gln115=)
| dbSNP gnomAD v2 |
17 | g.80104931G>C | CA401360833 | GAA | c.345G>C (p.Gln115His)
| |
17 | g.80104931G= | CA2277810729 | GAA | c.345G= (p.Gln115=)
| |
17 | g.80104931G>T | CA401360834 | GAA | c.345G>T (p.Gln115His)
| |
17 | g.80104934del | CA2844606115 | GAA | c.348del (p.Leu117CysfsTer25)
| |
17 | g.80104932G>A | CA401360836 | GAA | c.346G>A (p.Gly116Arg)
| |
17 | g.80104932G>C | CA401360838 | GAA | c.346G>C (p.Gly116Arg)
| |
17 | g.80104932G>T | CA401360840 | GAA | c.346G>T (p.Gly116Trp)
| gnomAD v4 |
17 | g.80104933G>A | CA401360844 | GAA | c.347G>A (p.Gly116Glu)
| ClinVar dbSNP |
17 | g.80104933G>C | CA401360842 | GAA | c.347G>C (p.Gly116Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104933G= | CA2277810730 | GAA | c.347G= (p.Gly116=)
| |
17 | g.80104933G>T | CA8814853 | GAA | c.347G>T (p.Gly116Val)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.80104934G>A | CA502402242 | GAA | c.348G>A (p.Gly116=)
| |
17 | g.80104934G>C | CA502402243 | GAA | c.348G>C (p.Gly116=)
| |
17 | g.80104934G>T | CA502402244 | GAA | c.348G>T (p.Gly116=)
| ClinVar dbSNP |
17 | g.80104935C>A | CA401360846 | GAA | c.349C>A (p.Leu117Met)
| |
17 | g.80104935C>G | CA401360848 | GAA | c.349C>G (p.Leu117Val)
| |
17 | g.80104935C>T | CA502402245 | GAA | c.349C>T (p.Leu117=)
| |
17 | g.80104935_80104936insCCCTGCTT | CA2839075526 | GAA | c.349_350insCCCTGCTT (p.Leu117ProfsTer28)
| |
17 | g.80104936T>A | CA401360850 | GAA | c.350T>A (p.Leu117Gln)
| |
17 | g.80104936T>C | CA401360852 | GAA | c.350T>C (p.Leu117Pro)
| |
17 | g.80104936T>G | CA401360853 | GAA | c.350T>G (p.Leu117Arg)
| |
17 | g.80104937G>A | CA8814854 | GAA | c.351G>A (p.Leu117=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104937G>C | CA502402246 | GAA | c.351G>C (p.Leu117=)
| |
17 | g.80104937G= | CA2277810731 | GAA | c.351G= (p.Leu117=)
| |
17 | g.80104937G>T | CA502402247 | GAA | c.351G>T (p.Leu117=)
| |
17 | g.80104938C>A | CA401360855 | GAA | c.352C>A (p.Gln118Lys)
| |
17 | g.80104938C= | CA2277810732 | GAA | c.352C= (p.Gln118=)
| |
17 | g.80104938C>G | CA401360857 | GAA | c.352C>G (p.Gln118Glu)
| |
17 | g.80104938C>T | CA401360858 | GAA | c.352C>T (p.Gln118Ter)
| ClinVar dbSNP |
17 | g.80104939A= | CA2277810733 | GAA | c.353A= (p.Gln118=)
| |
17 | g.80104939A>C | CA401360860 | GAA | c.353A>C (p.Gln118Pro)
| dbSNP |
17 | g.80104939A>G | CA401360861 | GAA | c.353A>G (p.Gln118Arg)
| dbSNP |
17 | g.80104939A>T | CA401360863 | GAA | c.353A>T (p.Gln118Leu)
| |
17 | g.80104940G>A | CA502402248 | GAA | c.354G>A (p.Gln118=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104940G>C | CA401360866 | GAA | c.354G>C (p.Gln118His)
| |
17 | g.80104940G= | CA2277810734 | GAA | c.354G= (p.Gln118=)
| |
17 | g.80104940G>T | CA401360864 | GAA | c.354G>T (p.Gln118His)
| |
17 | g.80104941G>A | CA401360869 | GAA | c.355G>A (p.Gly119Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104941G>C | CA401360870 | GAA | c.355G>C (p.Gly119Arg)
| |
17 | g.80104941G= | CA2277810735 | GAA | c.355G= (p.Gly119=)
| |
17 | g.80104941G>T | CA401360871 | GAA | c.355G>T (p.Gly119Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104942G>A | CA401360873 | GAA | c.356G>A (p.Gly119Glu)
| |
17 | g.80104942G>C | CA401360874 | GAA | c.356G>C (p.Gly119Ala)
| |
17 | g.80104942G>T | CA401360876 | GAA | c.356G>T (p.Gly119Val)
| |
17 | g.80104943A>C | CA502402249 | GAA | c.357A>C (p.Gly119=)
| ClinVar |
17 | g.80104943A>G | CA502402250 | GAA | c.357A>G (p.Gly119=)
| |
17 | g.80104943A>T | CA502402251 | GAA | c.357A>T (p.Gly119=)
| |
17 | g.80104944G>A | CA401360881 | GAA | c.358G>A (p.Ala120Thr)
| |
17 | g.80104944G>C | CA401360880 | GAA | c.358G>C (p.Ala120Pro)
| |
17 | g.80104944G>T | CA401360878 | GAA | c.358G>T (p.Ala120Ser)
| gnomAD v4 |
17 | g.80104945C>A | CA401360883 | GAA | c.359C>A (p.Ala120Asp)
| |
17 | g.80104945C= | CA2277810736 | GAA | c.359C= (p.Ala120=)
| |
17 | g.80104945C>G | CA8814855 | GAA | c.359C>G (p.Ala120Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104945C>T | CA401360885 | GAA | c.359C>T (p.Ala120Val)
| gnomAD v4 |
17 | g.80104946C>A | CA502402252 | GAA | c.360C>A (p.Ala120=)
| gnomAD v4 |
17 | g.80104946C>G | CA502402253 | GAA | c.360C>G (p.Ala120=)
| |
17 | g.80104946C>T | CA502402254 | GAA | c.360C>T (p.Ala120=)
| |
17 | g.80104947C>A | CA401360887 | GAA | c.361C>A (p.Gln121Lys)
| |
17 | g.80104947C= | CA2277810737 | GAA | c.361C= (p.Gln121=)
| |
17 | g.80104947C>G | CA401360889 | GAA | c.361C>G (p.Gln121Glu)
| |
17 | g.80104947C>T | CA8814856 | GAA | c.361C>T (p.Gln121Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104948A= | CA2277810738 | GAA | c.362A= (p.Gln121=)
| |
17 | g.80104948A>C | CA401360891 | GAA | c.362A>C (p.Gln121Pro)
| dbSNP |
17 | g.80104948A>G | CA8814857 | GAA | c.362A>G (p.Gln121Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104948A>T | CA401360893 | GAA | c.362A>T (p.Gln121Leu)
| |
17 | g.80104949G>A | CA502402255 | GAA | c.363G>A (p.Gln121=)
| |
17 | g.80104949G>C | CA401360895 | GAA | c.363G>C (p.Gln121His)
| |
17 | g.80104949G>T | CA401360896 | GAA | c.363G>T (p.Gln121His)
| gnomAD v4 |
17 | g.80104950A= | CA2277810740 | GAA | c.364A= (p.Met122=)
| |
17 | g.80104950A>C | CA401360898 | GAA | c.364A>C (p.Met122Leu)
| |
17 | g.80104950A>G | CA401360899 | GAA | c.364A>G (p.Met122Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104950A>T | CA401360901 | GAA | c.364A>T (p.Met122Leu)
| |
17 | g.80104950_80104951delinsAT | CA2277810739 | GAA | c.364_365delinsAT (p.Met122=)
| |
17 | g.80104951del | CA274330 | GAA | c.365del (p.Met122ArgfsTer20)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104951T>A | CA401360903 | GAA | c.365T>A (p.Met122Lys)
| |
17 | g.80104951T>C | CA401360906 | GAA | c.365T>C (p.Met122Thr)
| gnomAD v4 |
17 | g.80104951T>G | CA8814858 | GAA | c.365T>G (p.Met122Arg)
| dbSNP ExAC gnomAD v4 |
17 | g.80104951T= | CA2277810741 | GAA | c.365T= (p.Met122=)
| |
17 | g.80104952G>A | CA401360909 | GAA | c.366G>A (p.Met122Ile)
| |
17 | g.80104952G>C | CA401360911 | GAA | c.366G>C (p.Met122Ile)
| |
17 | g.80104952G>T | CA401360913 | GAA | c.366G>T (p.Met122Ile)
| |
17 | g.80104953G>A | CA401360915 | GAA | c.367G>A (p.Gly123Arg)
| dbSNP gnomAD v2 |
17 | g.80104953G>C | CA401360919 | GAA | c.367G>C (p.Gly123Arg)
| |
17 | g.80104953G= | CA2277810742 | GAA | c.367G= (p.Gly123=)
| |
17 | g.80104953G>T | CA401360917 | GAA | c.367G>T (p.Gly123Trp)
| |
17 | g.80104954G>A | CA8814859 | GAA | c.368G>A (p.Gly123Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104954G>C | CA401360922 | GAA | c.368G>C (p.Gly123Ala)
| |
17 | g.80104954G= | CA2277810743 | GAA | c.368G= (p.Gly123=)
| |
17 | g.80104954G>T | CA401360924 | GAA | c.368G>T (p.Gly123Val)
| ClinVar dbSNP |
17 | g.80104955G>A | CA8814860 | GAA | c.369G>A (p.Gly123=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104955G>C | CA502402256 | GAA | c.369G>C (p.Gly123=)
| |
17 | g.80104955G= | CA2277810744 | GAA | c.369G= (p.Gly123=)
| |
17 | g.80104955G>T | CA502402257 | GAA | c.369G>T (p.Gly123=)
| |
17 | g.80104957_80104967del | CA2695200347 | GAA | c.371_381del (p.Gln124LeufsTer18)
| ClinVar |
17 | g.80104956C>A | CA401360928 | GAA | c.370C>A (p.Gln124Lys)
| dbSNP |
17 | g.80104956C= | CA2277810745 | GAA | c.370C= (p.Gln124=)
| |
17 | g.80104956C>G | CA401360930 | GAA | c.370C>G (p.Gln124Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104956C>T | CA401360932 | GAA | c.370C>T (p.Gln124Ter)
| |
17 | g.80104957A>C | CA401360934 | GAA | c.371A>C (p.Gln124Pro)
| |
17 | g.80104957A>G | CA401360935 | GAA | c.371A>G (p.Gln124Arg)
| |
17 | g.80104957A>T | CA401360937 | GAA | c.371A>T (p.Gln124Leu)
| |