17 | g.80108301C>A | CA401364401 | GAA | c.967C>A (p.Gln323Lys)
| |
17 | g.80108301C>G | CA401364398 | GAA | c.967C>G (p.Gln323Glu)
| |
17 | g.80108301C>T | CA401364399 | GAA | c.967C>T (p.Gln323Ter)
| ClinVar |
17 | g.80108302A>C | CA401364403 | GAA | c.968A>C (p.Gln323Pro)
| |
17 | g.80108302A>G | CA401364405 | GAA | c.968A>G (p.Gln323Arg)
| |
17 | g.80108302A>T | CA401364406 | GAA | c.968A>T (p.Gln323Leu)
| |
17 | g.80108303G>A | CA502178194 | GAA | c.969G>A (p.Gln323=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108303G>C | CA401364409 | GAA | c.969G>C (p.Gln323His)
| gnomAD v4 |
17 | g.80108303G= | CA2277812659 | GAA | c.969G= (p.Gln323=)
| |
17 | g.80108303G>T | CA401364411 | GAA | c.969G>T (p.Gln323His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108304C>A | CA401364412 | GAA | c.970C>A (p.Pro324Thr)
| |
17 | g.80108304C>G | CA401364414 | GAA | c.970C>G (p.Pro324Ala)
| |
17 | g.80108304C>T | CA401364416 | GAA | c.970C>T (p.Pro324Ser)
| gnomAD v4 |
17 | g.80108305dup | CA1585329339 | GAA | c.971dup (p.Ser325GlufsTer5)
| ClinVar dbSNP |
17 | g.80108305C>A | CA8815118 | GAA | c.971C>A (p.Pro324Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108305C= | CA2277812660 | GAA | c.971C= (p.Pro324=)
| |
17 | g.80108305C>G | CA8815120 | GAA | c.971C>G (p.Pro324Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108305C>T | CA8815119 | GAA | c.971C>T (p.Pro324Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108306G>A | CA8815121 | GAA | c.972G>A (p.Pro324=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108306G>C | CA502178196 | GAA | c.972G>C (p.Pro324=)
| ClinVar dbSNP |
17 | g.80108306G= | CA2277812661 | GAA | c.972G= (p.Pro324=)
| |
17 | g.80108306G>T | CA502178197 | GAA | c.972G>T (p.Pro324=)
| gnomAD v4 |
17 | g.80108307A>C | CA401364421 | GAA | c.973A>C (p.Ser325Arg)
| |
17 | g.80108307A>G | CA401364426 | GAA | c.973A>G (p.Ser325Gly)
| |
17 | g.80108307A>T | CA401364424 | GAA | c.973A>T (p.Ser325Cys)
| |
17 | g.80108308G>A | CA294891758 | GAA | c.974G>A (p.Ser325Asn)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108308G>C | CA401364431 | GAA | c.974G>C (p.Ser325Thr)
| |
17 | g.80108308G= | CA2277812662 | GAA | c.974G= (p.Ser325=)
| |
17 | g.80108308G>T | CA401364433 | GAA | c.974G>T (p.Ser325Ile)
| |
17 | g.80108309C>A | CA401364435 | GAA | c.975C>A (p.Ser325Arg)
| |
17 | g.80108309C>G | CA401364437 | GAA | c.975C>G (p.Ser325Arg)
| |
17 | g.80108309C>T | CA502178205 | GAA | c.975C>T (p.Ser325=)
| |
17 | g.80108311dup | CA2840238256 | GAA | c.977dup (p.Ala327CysfsTer3)
| |
17 | g.80108310C>A | CA401364439 | GAA | c.976C>A (p.Pro326Thr)
| |
17 | g.80108310C= | CA2277812663 | GAA | c.976C= (p.Pro326=)
| |
17 | g.80108310C>G | CA401364440 | GAA | c.976C>G (p.Pro326Ala)
| |
17 | g.80108310C>T | CA401364442 | GAA | c.976C>T (p.Pro326Ser)
| ClinVar dbSNP |
17 | g.80108311C>A | CA401364444 | GAA | c.977C>A (p.Pro326His)
| |
17 | g.80108311C>G | CA401364446 | GAA | c.977C>G (p.Pro326Arg)
| |
17 | g.80108311C>T | CA401364447 | GAA | c.977C>T (p.Pro326Leu)
| |
17 | g.80108312T>A | CA502178212 | GAA | c.978T>A (p.Pro326=)
| |
17 | g.80108312T>C | CA502178214 | GAA | c.978T>C (p.Pro326=)
| |
17 | g.80108312T>G | CA502178216 | GAA | c.978T>G (p.Pro326=)
| |
17 | g.80108313G>A | CA8815122 | GAA | c.979G>A (p.Ala327Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108313G>C | CA401364449 | GAA | c.979G>C (p.Ala327Pro)
| gnomAD v4 |
17 | g.80108313G= | CA2277812664 | GAA | c.979G= (p.Ala327=)
| |
17 | g.80108313G>T | CA401364448 | GAA | c.979G>T (p.Ala327Ser)
| gnomAD v4 |
17 | g.80108314C>A | CA401364453 | GAA | c.980C>A (p.Ala327Asp)
| |
17 | g.80108314C= | CA2277812665 | GAA | c.980C= (p.Ala327=)
| |
17 | g.80108314C>G | CA401364455 | GAA | c.980C>G (p.Ala327Gly)
| dbSNP |
17 | g.80108314C>T | CA401364457 | GAA | c.980C>T (p.Ala327Val)
| |
17 | g.80108316del | CA2695227073 | GAA | c.982del (p.Ser329AlafsTer?)
| |
17 | g.80108315C>A | CA502178221 | GAA | c.981C>A (p.Ala327=)
| |
17 | g.80108315C>G | CA502178223 | GAA | c.981C>G (p.Ala327=)
| |
17 | g.80108315C>T | CA502178225 | GAA | c.981C>T (p.Ala327=)
| |
17 | g.80108316C>A | CA401364459 | GAA | c.982C>A (p.Leu328Ile)
| |
17 | g.80108316C= | CA2277812666 | GAA | c.982C= (p.Leu328=)
| |
17 | g.80108316C>G | CA401364461 | GAA | c.982C>G (p.Leu328Val)
| |
17 | g.80108316C>T | CA401364463 | GAA | c.982C>T (p.Leu328Phe)
| ClinVar dbSNP |
17 | g.80108316_80108322del | CA2695227074 | GAA | c.982_988del (p.Leu328GlyfsTer?)
| |
17 | g.80108317T>A | CA401364464 | GAA | c.983T>A (p.Leu328His)
| |
17 | g.80108317T>C | CA401364466 | GAA | c.983T>C (p.Leu328Pro)
| |
17 | g.80108317T>G | CA401364468 | GAA | c.983T>G (p.Leu328Arg)
| gnomAD v4 |
17 | g.80108318T>A | CA502178231 | GAA | c.984T>A (p.Leu328=)
| |
17 | g.80108318T>C | CA502178233 | GAA | c.984T>C (p.Leu328=)
| |
17 | g.80108318T>G | CA502178234 | GAA | c.984T>G (p.Leu328=)
| |
17 | g.80108319del | CA2576414014 | GAA | c.985del (p.Ser329AlafsTer?)
| |
17 | g.80108319A>C | CA401364471 | GAA | c.985A>C (p.Ser329Arg)
| |
17 | g.80108319A>G | CA401364473 | GAA | c.985A>G (p.Ser329Gly)
| |
17 | g.80108319A>T | CA401364475 | GAA | c.985A>T (p.Ser329Cys)
| |
17 | g.80108320G>A | CA401364479 | GAA | c.986G>A (p.Ser329Asn)
| |
17 | g.80108320G>C | CA401364478 | GAA | c.986G>C (p.Ser329Thr)
| |
17 | g.80108320G>T | CA401364476 | GAA | c.986G>T (p.Ser329Ile)
| |
17 | g.80108321C>A | CA401364480 | GAA | c.987C>A (p.Ser329Arg)
| |
17 | g.80108321C= | CA2277812667 | GAA | c.987C= (p.Ser329=)
| |
17 | g.80108321C>G | CA401364482 | GAA | c.987C>G (p.Ser329Arg)
| gnomAD v4 |
17 | g.80108321C>T | CA8815123 | GAA | c.987C>T (p.Ser329=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108322_80108332del | CA2697555243 | GAA | c.988_998del (p.Trp330ArgfsTer?)
| ClinVar |
17 | g.80108322T>A | CA401364483 | GAA | c.988T>A (p.Trp330Arg)
| |
17 | g.80108322T>C | CA401364485 | GAA | c.988T>C (p.Trp330Arg)
| |
17 | g.80108322T>G | CA401364484 | GAA | c.988T>G (p.Trp330Gly)
| |
17 | g.80108323G>A | CA401364487 | GAA | c.989G>A (p.Trp330Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108323G>C | CA401364489 | GAA | c.989G>C (p.Trp330Ser)
| |
17 | g.80108323G= | CA2277812668 | GAA | c.989G= (p.Trp330=)
| |
17 | g.80108323G>T | CA401364491 | GAA | c.989G>T (p.Trp330Leu)
| |
17 | g.80108324G>A | CA401364492 | GAA | c.990G>A (p.Trp330Ter)
| |
17 | g.80108324G>C | CA401364494 | GAA | c.990G>C (p.Trp330Cys)
| ClinVar |
17 | g.80108324G>T | CA401364495 | GAA | c.990G>T (p.Trp330Cys)
| |
17 | g.80108325A>C | CA502178250 | GAA | c.991A>C (p.Arg331=)
| |
17 | g.80108325A>G | CA401364497 | GAA | c.991A>G (p.Arg331Gly)
| |
17 | g.80108325A>T | CA401364498 | GAA | c.991A>T (p.Arg331Trp)
| |
17 | g.80108326G>A | CA401364500 | GAA | c.992G>A (p.Arg331Lys)
| |
17 | g.80108326G>C | CA401364502 | GAA | c.992G>C (p.Arg331Thr)
| |
17 | g.80108326G>T | CA401364503 | GAA | c.992G>T (p.Arg331Met)
| |
17 | g.80108327G>A | CA8815124 | GAA | c.993G>A (p.Arg331=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108327G>C | CA401364505 | GAA | c.993G>C (p.Arg331Ser)
| |
17 | g.80108327G= | CA2277812669 | GAA | c.993G= (p.Arg331=)
| |
17 | g.80108327G>T | CA401364507 | GAA | c.993G>T (p.Arg331Ser)
| gnomAD v4 |
17 | g.80108328T>A | CA401364511 | GAA | c.994T>A (p.Ser332Thr)
| |
17 | g.80108328T>C | CA401364512 | GAA | c.994T>C (p.Ser332Pro)
| |
17 | g.80108328T>G | CA401364514 | GAA | c.994T>G (p.Ser332Ala)
| |
17 | g.80108328_80108329insTT | CA919905421 | GAA | c.994_995insTT (p.Ser332PhefsTer?)
| dbSNP |
17 | g.80108329C>A | CA401364516 | GAA | c.995C>A (p.Ser332Ter)
| ClinVar dbSNP |
17 | g.80108329C= | CA2277812670 | GAA | c.995C= (p.Ser332=)
| |
17 | g.80108329C>G | CA401364518 | GAA | c.995C>G (p.Ser332Trp)
| |
17 | g.80108329C>T | CA8815125 | GAA | c.995C>T (p.Ser332Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108330G>A | CA8815126 | GAA | c.996G>A (p.Ser332=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80108330G>C | CA502178262 | GAA | c.996G>C (p.Ser332=)
| |
17 | g.80108330G= | CA2277812671 | GAA | c.996G= (p.Ser332=)
| |
17 | g.80108330G>T | CA502178260 | GAA | c.996G>T (p.Ser332=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108331A>C | CA401364522 | GAA | c.997A>C (p.Thr333Pro)
| |
17 | g.80108331A>G | CA401364523 | GAA | c.997A>G (p.Thr333Ala)
| |
17 | g.80108331A>T | CA401364525 | GAA | c.997A>T (p.Thr333Ser)
| |
17 | g.80108332C>A | CA401364529 | GAA | c.998C>A (p.Thr333Lys)
| gnomAD v4 |
17 | g.80108332C>G | CA401364530 | GAA | c.998C>G (p.Thr333Arg)
| gnomAD v4 |
17 | g.80108332C>T | CA401364527 | GAA | c.998C>T (p.Thr333Ile)
| |
17 | g.80108333A= | CA2277812672 | GAA | c.999A= (p.Thr333=)
| |
17 | g.80108333A>C | CA502178268 | GAA | c.999A>C (p.Thr333=)
| |
17 | g.80108333A>G | CA502178270 | GAA | c.999A>G (p.Thr333=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108333A>T | CA502178272 | GAA | c.999A>T (p.Thr333=)
| |
17 | g.80108334G>A | CA401364531 | GAA | c.1000G>A (p.Gly334Ser)
| ClinVar dbSNP |
17 | g.80108334G>C | CA401364533 | GAA | c.1000G>C (p.Gly334Arg)
| |
17 | g.80108334G= | CA2277812673 | GAA | c.1000G= (p.Gly334=)
| |
17 | g.80108334G>T | CA10604927 | GAA | c.1000G>T (p.Gly334Cys)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108335G>A | CA401364535 | GAA | c.1001G>A (p.Gly334Asp)
| ClinVar dbSNP COSMIC |
17 | g.80108335G>C | CA401364537 | GAA | c.1001G>C (p.Gly334Ala)
| |
17 | g.80108335G= | CA2277812674 | GAA | c.1001G= (p.Gly334=)
| |
17 | g.80108335G>T | CA401364539 | GAA | c.1001G>T (p.Gly334Val)
| |
17 | g.80108336T>A | CA502178277 | GAA | c.1002T>A (p.Gly334=)
| |
17 | g.80108336T>C | CA502178278 | GAA | c.1002T>C (p.Gly334=)
| |
17 | g.80108336T>G | CA502178280 | GAA | c.1002T>G (p.Gly334=)
| |
17 | g.80108337G>A | CA501005 | GAA | c.1003G>A (p.Gly335Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108337G>C | CA401364542 | GAA | c.1003G>C (p.Gly335Arg)
| |
17 | g.80108337G= | CA2277812675 | GAA | c.1003G= (p.Gly335=)
| |
17 | g.80108337G>T | CA401364543 | GAA | c.1003G>T (p.Gly335Trp)
| ClinVar dbSNP |
17 | g.80108338_80108339dup | CA2695227075 | GAA | c.1004_1005dup (p.Ile336GlyfsTer?)
| |
17 | g.80108338G>A | CA273683 | GAA | c.1004G>A (p.Gly335Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108338G>C | CA401364545 | GAA | c.1004G>C (p.Gly335Ala)
| |
17 | g.80108338G= | CA2277812676 | GAA | c.1004G= (p.Gly335=)
| |
17 | g.80108338G>T | CA401364547 | GAA | c.1004G>T (p.Gly335Val)
| |
17 | g.80108339G>A | CA502178284 | GAA | c.1005G>A (p.Gly335=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108339G>C | CA502178285 | GAA | c.1005G>C (p.Gly335=)
| ClinVar |
17 | g.80108339G= | CA2277812677 | GAA | c.1005G= (p.Gly335=)
| |
17 | g.80108339G>T | CA502178286 | GAA | c.1005G>T (p.Gly335=)
| |
17 | g.80108340A>C | CA401364552 | GAA | c.1006A>C (p.Ile336Leu)
| |
17 | g.80108340A>G | CA401364553 | GAA | c.1006A>G (p.Ile336Val)
| |
17 | g.80108340A>T | CA401364550 | GAA | c.1006A>T (p.Ile336Phe)
| |
17 | g.80108341T>A | CA8815127 | GAA | c.1007T>A (p.Ile336Asn)
| dbSNP ExAC gnomAD v2 |
17 | g.80108341T>C | CA401364557 | GAA | c.1007T>C (p.Ile336Thr)
| ClinVar gnomAD v4 |
17 | g.80108341T>G | CA401364558 | GAA | c.1007T>G (p.Ile336Ser)
| |
17 | g.80108341T= | CA2277812678 | GAA | c.1007T= (p.Ile336=)
| |
17 | g.80108342C>A | CA502178287 | GAA | c.1008C>A (p.Ile336=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108342C= | CA2277812679 | GAA | c.1008C= (p.Ile336=)
| |
17 | g.80108342C>G | CA294891791 | GAA | c.1008C>G (p.Ile336Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108342C>T | CA502178288 | GAA | c.1008C>T (p.Ile336=)
| ClinVar gnomAD v4 |
17 | g.80108343C>A | CA401364562 | GAA | c.1009C>A (p.Leu337Met)
| |
17 | g.80108343C= | CA2277812680 | GAA | c.1009C= (p.Leu337=)
| |
17 | g.80108343C>G | CA401364563 | GAA | c.1009C>G (p.Leu337Val)
| |
17 | g.80108343C>T | CA502178289 | GAA | c.1009C>T (p.Leu337=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108344T>A | CA401364567 | GAA | c.1010T>A (p.Leu337Gln)
| |
17 | g.80108344T>C | CA401364570 | GAA | c.1010T>C (p.Leu337Pro)
| |
17 | g.80108344T>G | CA401364568 | GAA | c.1010T>G (p.Leu337Arg)
| |
17 | g.80108345G>A | CA8815128 | GAA | c.1011G>A (p.Leu337=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108345G>C | CA502178290 | GAA | c.1011G>C (p.Leu337=)
| |
17 | g.80108345G= | CA2277812681 | GAA | c.1011G= (p.Leu337=)
| |
17 | g.80108345G>T | CA502178291 | GAA | c.1011G>T (p.Leu337=)
| ClinVar dbSNP |
17 | g.80108346G>A | CA401364572 | GAA | c.1012G>A (p.Asp338Asn)
| |
17 | g.80108346G>C | CA401364573 | GAA | c.1012G>C (p.Asp338His)
| |
17 | g.80108346G= | CA2277812682 | GAA | c.1012G= (p.Asp338=)
| |
17 | g.80108346G>T | CA401364575 | GAA | c.1012G>T (p.Asp338Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.80108347A= | CA2277812683 | GAA | c.1013A= (p.Asp338=)
| |
17 | g.80108347A>C | CA401364580 | GAA | c.1013A>C (p.Asp338Ala)
| gnomAD v4 |
17 | g.80108347A>G | CA294891797 | GAA | c.1013A>G (p.Asp338Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108347A>T | CA401364577 | GAA | c.1013A>T (p.Asp338Val)
| |
17 | g.80108348T>A | CA401364582 | GAA | c.1014T>A (p.Asp338Glu)
| |
17 | g.80108348T>C | CA502178292 | GAA | c.1014T>C (p.Asp338=)
| |
17 | g.80108348T>G | CA401364583 | GAA | c.1014T>G (p.Asp338Glu)
| |
17 | g.80108349G>A | CA401364585 | GAA | c.1015G>A (p.Val339Ile)
| |
17 | g.80108349G>C | CA401364588 | GAA | c.1015G>C (p.Val339Leu)
| |
17 | g.80108349G>T | CA401364589 | GAA | c.1015G>T (p.Val339Phe)
| gnomAD v4 |
17 | g.80108350T>A | CA401364590 | GAA | c.1016T>A (p.Val339Asp)
| |
17 | g.80108350T>C | CA401364592 | GAA | c.1016T>C (p.Val339Ala)
| |
17 | g.80108350T>G | CA401364594 | GAA | c.1016T>G (p.Val339Gly)
| |
17 | g.80108351C>A | CA502178293 | GAA | c.1017C>A (p.Val339=)
| |
17 | g.80108351C= | CA2277812684 | GAA | c.1017C= (p.Val339=)
| |
17 | g.80108351C>G | CA502178294 | GAA | c.1017C>G (p.Val339=)
| |
17 | g.80108351C>T | CA502178295 | GAA | c.1017C>T (p.Val339=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108352T>A | CA401364596 | GAA | c.1018T>A (p.Tyr340Asn)
| |
17 | g.80108352T>C | CA401364598 | GAA | c.1018T>C (p.Tyr340His)
| |
17 | g.80108352T>G | CA401364600 | GAA | c.1018T>G (p.Tyr340Asp)
| |
17 | g.80108353A= | CA2277812685 | GAA | c.1019A= (p.Tyr340=)
| |
17 | g.80108353A>C | CA401364603 | GAA | c.1019A>C (p.Tyr340Ser)
| |
17 | g.80108353A>G | CA8815129 | GAA | c.1019A>G (p.Tyr340Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108353A>T | CA401364606 | GAA | c.1019A>T (p.Tyr340Phe)
| |
17 | g.80108354C>A | CA401364610 | GAA | c.1020C>A (p.Tyr340Ter)
| |
17 | g.80108354C= | CA2277812686 | GAA | c.1020C= (p.Tyr340=)
| |
17 | g.80108354C>G | CA401364608 | GAA | c.1020C>G (p.Tyr340Ter)
| ClinVar |
17 | g.80108354C>T | CA502178296 | GAA | c.1020C>T (p.Tyr340=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108355A= | CA2277812687 | GAA | c.1021A= (p.Ile341=)
| |
17 | g.80108355A>C | CA401364612 | GAA | c.1021A>C (p.Ile341Leu)
| |
17 | g.80108355A>G | CA8815130 | GAA | c.1021A>G (p.Ile341Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108355A>T | CA401364614 | GAA | c.1021A>T (p.Ile341Phe)
| |
17 | g.80108356T>A | CA401364617 | GAA | c.1022T>A (p.Ile341Asn)
| |
17 | g.80108356T>C | CA401364618 | GAA | c.1022T>C (p.Ile341Thr)
| |
17 | g.80108356T>G | CA401364620 | GAA | c.1022T>G (p.Ile341Ser)
| |
17 | g.80108357C>A | CA502178297 | GAA | c.1023C>A (p.Ile341=)
| ClinVar gnomAD v4 |
17 | g.80108357C>G | CA401364621 | GAA | c.1023C>G (p.Ile341Met)
| |
17 | g.80108357C>T | CA502178298 | GAA | c.1023C>T (p.Ile341=)
| gnomAD v4 |
17 | g.80108358T>A | CA401364623 | GAA | c.1024T>A (p.Phe342Ile)
| |
17 | g.80108358T>C | CA401364625 | GAA | c.1024T>C (p.Phe342Leu)
| gnomAD v4 |
17 | g.80108358T>G | CA401364627 | GAA | c.1024T>G (p.Phe342Val)
| |
17 | g.80108359T>A | CA401364628 | GAA | c.1025T>A (p.Phe342Tyr)
| |
17 | g.80108359T>C | CA401364630 | GAA | c.1025T>C (p.Phe342Ser)
| |
17 | g.80108359T>G | CA401364632 | GAA | c.1025T>G (p.Phe342Cys)
| |
17 | g.80108360C>A | CA401364636 | GAA | c.1026C>A (p.Phe342Leu)
| |
17 | g.80108360C= | CA2277812688 | GAA | c.1026C= (p.Phe342=)
| |
17 | g.80108360C>G | CA401364634 | GAA | c.1026C>G (p.Phe342Leu)
| |
17 | g.80108360C>T | CA294891803 | GAA | c.1026C>T (p.Phe342=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108361C>A | CA401364638 | GAA | c.1027C>A (p.Leu343Met)
| |
17 | g.80108361C>G | CA401364640 | GAA | c.1027C>G (p.Leu343Val)
| |
17 | g.80108361C>T | CA502178299 | GAA | c.1027C>T (p.Leu343=)
| |
17 | g.80108362T>A | CA401364642 | GAA | c.1028T>A (p.Leu343Gln)
| |
17 | g.80108362T>C | CA401364644 | GAA | c.1028T>C (p.Leu343Pro)
| |
17 | g.80108362T>G | CA401364645 | GAA | c.1028T>G (p.Leu343Arg)
| |
17 | g.80108362_80108364delinsTGG | CA2277812689 | GAA | c.1028_1030delinsTGG (p.Leu343=)
| |
17 | g.80108363G>A | CA502178300 | GAA | c.1029G>A (p.Leu343=)
| gnomAD v4 |
17 | g.80108363G>C | CA502178301 | GAA | c.1029G>C (p.Leu343=)
| |
17 | g.80108363G>T | CA502178302 | GAA | c.1029G>T (p.Leu343=)
| |
17 | g.80108364_80108365del | CA913191005 | GAA | c.1030_1031del (p.Gly344ProfsTer?)
| ClinVar dbSNP |
17 | g.80108364G>A | CA401364650 | GAA | c.1030G>A (p.Gly344Ser)
| dbSNP |
17 | g.80108364G>C | CA401364649 | GAA | c.1030G>C (p.Gly344Arg)
| |
17 | g.80108364G= | CA2277812690 | GAA | c.1030G= (p.Gly344=)
| |
17 | g.80108364G>T | CA401364647 | GAA | c.1030G>T (p.Gly344Cys)
| |
17 | g.80108365G>A | CA401364652 | GAA | c.1031G>A (p.Gly344Asp)
| |
17 | g.80108365G>C | CA401364653 | GAA | c.1031G>C (p.Gly344Ala)
| |
17 | g.80108365G>T | CA401364655 | GAA | c.1031G>T (p.Gly344Val)
| gnomAD v4 |
17 | g.80108366C>A | CA502178304 | GAA | c.1032C>A (p.Gly344=)
| |
17 | g.80108366C>G | CA502178306 | GAA | c.1032C>G (p.Gly344=)
| |
17 | g.80108366C>T | CA502178307 | GAA | c.1032C>T (p.Gly344=)
| gnomAD v4 |
17 | g.80108368dup | CA2840238257 | GAA | c.1034dup (p.Glu346ArgfsTer?)
| |
17 | g.80108367C>A | CA401364657 | GAA | c.1033C>A (p.Pro345Thr)
| |
17 | g.80108367C>G | CA401364659 | GAA | c.1033C>G (p.Pro345Ala)
| |
17 | g.80108367C>T | CA401364661 | GAA | c.1033C>T (p.Pro345Ser)
| ClinVar gnomAD v4 |
17 | g.80108368C>A | CA401364662 | GAA | c.1034C>A (p.Pro345Gln)
| |
17 | g.80108368C>G | CA401364666 | GAA | c.1034C>G (p.Pro345Arg)
| |
17 | g.80108368C>T | CA401364664 | GAA | c.1034C>T (p.Pro345Leu)
| |
17 | g.80108369A= | CA2277812691 | GAA | c.1035A= (p.Pro345=)
| |
17 | g.80108369A>C | CA294891820 | GAA | c.1035A>C (p.Pro345=)
| ClinVar dbSNP |
17 | g.80108369A>G | CA502178309 | GAA | c.1035A>G (p.Pro345=)
| |
17 | g.80108369A>T | CA502178310 | GAA | c.1035A>T (p.Pro345=)
| |
17 | g.80108370G>A | CA401364669 | GAA | c.1036G>A (p.Glu346Lys)
| |
17 | g.80108370G>C | CA401364670 | GAA | c.1036G>C (p.Glu346Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108370G= | CA2277812692 | GAA | c.1036G= (p.Glu346=)
| |
17 | g.80108370G>T | CA401364672 | GAA | c.1036G>T (p.Glu346Ter)
| |
17 | g.80108371A>C | CA401364674 | GAA | c.1037A>C (p.Glu346Ala)
| |
17 | g.80108371A>G | CA401364676 | GAA | c.1037A>G (p.Glu346Gly)
| |
17 | g.80108371A>T | CA401364678 | GAA | c.1037A>T (p.Glu346Val)
| |
17 | g.80108372G>A | CA502178311 | GAA | c.1038G>A (p.Glu346=)
| |
17 | g.80108372G>C | CA401364680 | GAA | c.1038G>C (p.Glu346Asp)
| |
17 | g.80108372G>T | CA401364682 | GAA | c.1038G>T (p.Glu346Asp)
| |
17 | g.80108373C>A | CA401364684 | GAA | c.1039C>A (p.Pro347Thr)
| |
17 | g.80108373C= | CA2277812693 | GAA | c.1039C= (p.Pro347=)
| |
17 | g.80108373C>G | CA401364686 | GAA | c.1039C>G (p.Pro347Ala)
| |
17 | g.80108373C>T | CA401364688 | GAA | c.1039C>T (p.Pro347Ser)
| ClinVar dbSNP |
17 | g.80108374C>A | CA401364694 | GAA | c.1040C>A (p.Pro347His)
| dbSNP |
17 | g.80108374C= | CA2277812694 | GAA | c.1040C= (p.Pro347=)
| |
17 | g.80108374C>G | CA401364692 | GAA | c.1040C>G (p.Pro347Arg)
| gnomAD v4 |
17 | g.80108374C>T | CA401364690 | GAA | c.1040C>T (p.Pro347Leu)
| |
17 | g.80108375C>A | CA502178314 | GAA | c.1041C>A (p.Pro347=)
| |
17 | g.80108375C= | CA2277812695 | GAA | c.1041C= (p.Pro347=)
| |
17 | g.80108375C>G | CA502178315 | GAA | c.1041C>G (p.Pro347=)
| dbSNP |
17 | g.80108375C>T | CA502178316 | GAA | c.1041C>T (p.Pro347=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108376A>C | CA401364696 | GAA | c.1042A>C (p.Lys348Gln)
| |
17 | g.80108376A>G | CA401364700 | GAA | c.1042A>G (p.Lys348Glu)
| |
17 | g.80108376A>T | CA401364698 | GAA | c.1042A>T (p.Lys348Ter)
| |
17 | g.80108377A= | CA2277812696 | GAA | c.1043A= (p.Lys348=)
| |
17 | g.80108377A>C | CA401364702 | GAA | c.1043A>C (p.Lys348Thr)
| |
17 | g.80108377A>G | CA8815131 | GAA | c.1043A>G (p.Lys348Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108377A>T | CA401364704 | GAA | c.1043A>T (p.Lys348Met)
| |
17 | g.80108378G>A | CA502178319 | GAA | c.1044G>A (p.Lys348=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108378G>C | CA401364707 | GAA | c.1044G>C (p.Lys348Asn)
| |
17 | g.80108378G= | CA2277812697 | GAA | c.1044G= (p.Lys348=)
| |
17 | g.80108378G>T | CA401364709 | GAA | c.1044G>T (p.Lys348Asn)
| |
17 | g.80108379A= | CA2277812698 | GAA | c.1045A= (p.Ser349=)
| |
17 | g.80108379A>C | CA401364711 | GAA | c.1045A>C (p.Ser349Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108379A>G | CA401364715 | GAA | c.1045A>G (p.Ser349Gly)
| ClinVar |
17 | g.80108379A>T | CA401364713 | GAA | c.1045A>T (p.Ser349Cys)
| |
17 | g.80108380G>A | CA401364717 | GAA | c.1046G>A (p.Ser349Asn)
| |
17 | g.80108380G>C | CA401364721 | GAA | c.1046G>C (p.Ser349Thr)
| |
17 | g.80108380G>T | CA401364718 | GAA | c.1046G>T (p.Ser349Ile)
| gnomAD v4 |
17 | g.80108381del | CA891862612 | GAA | c.1047del (p.Ser349ArgfsTer?)
| |
17 | g.80108381C>A | CA401364723 | GAA | c.1047C>A (p.Ser349Arg)
| gnomAD v4 |
17 | g.80108381C= | CA2277812699 | GAA | c.1047C= (p.Ser349=)
| |
17 | g.80108381C>G | CA401364726 | GAA | c.1047C>G (p.Ser349Arg)
| |
17 | g.80108381C>T | CA8815132 | GAA | c.1047C>T (p.Ser349=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108382G>A | CA8815133 | GAA | c.1048G>A (p.Val350Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108382G>C | CA401364731 | GAA | c.1048G>C (p.Val350Leu)
| |
17 | g.80108382G= | CA2277812700 | GAA | c.1048G= (p.Val350=)
| |
17 | g.80108382G>T | CA401364729 | GAA | c.1048G>T (p.Val350Leu)
| |
17 | g.80108383T>A | CA401364732 | GAA | c.1049T>A (p.Val350Glu)
| |
17 | g.80108383T>C | CA401364734 | GAA | c.1049T>C (p.Val350Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108383T>G | CA401364736 | GAA | c.1049T>G (p.Val350Gly)
| |
17 | g.80108383T= | CA2277812702 | GAA | c.1049T= (p.Val350=)
| |
17 | g.80108383_80108384delinsTG | CA2277812701 | GAA | c.1049_1050delinsTG (p.Val350=)
| |
17 | g.80108384G>A | CA502402307 | GAA | c.1050G>A (p.Val350=)
| |
17 | g.80108384G>C | CA502402308 | GAA | c.1050G>C (p.Val350=)
| |
17 | g.80108384G>T | CA502402309 | GAA | c.1050G>T (p.Val350=)
| |
17 | g.80108384_80108385del | CA891862620 | GAA | c.1050_1051del (p.Val351AlafsTer?)
| |
17 | g.80108385del | CA274024 | GAA | c.1051del (p.Val351CysfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108385G>A | CA401364739 | GAA | c.1051G>A (p.Val351Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108385G>C | CA401364741 | GAA | c.1051G>C (p.Val351Leu)
| |
17 | g.80108385G= | CA2277812703 | GAA | c.1051G= (p.Val351=)
| |
17 | g.80108385G>T | CA401364742 | GAA | c.1051G>T (p.Val351Leu)
| |
17 | g.80108386T>A | CA401364745 | GAA | c.1052T>A (p.Val351Glu)
| |
17 | g.80108386T>C | CA401364748 | GAA | c.1052T>C (p.Val351Ala)
| |
17 | g.80108386T>G | CA401364746 | GAA | c.1052T>G (p.Val351Gly)
| |
17 | g.80108386_80108456del | CA2695227076 | GAA | c.1052_1076-33del
| |
17 | g.80108387G>A | CA294891845 | GAA | c.1053G>A (p.Val351=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108387G>C | CA502402313 | GAA | c.1053G>C (p.Val351=)
| |
17 | g.80108387G= | CA2277812704 | GAA | c.1053G= (p.Val351=)
| |
17 | g.80108387G>T | CA8815134 | GAA | c.1053G>T (p.Val351=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108388C>A | CA401364751 | GAA | c.1054C>A (p.Gln352Lys)
| ClinVar |
17 | g.80108388C= | CA2277812705 | GAA | c.1054C= (p.Gln352=)
| |
17 | g.80108388C>G | CA401364752 | GAA | c.1054C>G (p.Gln352Glu)
| |
17 | g.80108388C>T | CA294891876 | GAA | c.1054C>T (p.Gln352Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108389A>C | CA401364755 | GAA | c.1055A>C (p.Gln352Pro)
| gnomAD v4 |
17 | g.80108389A>G | CA401364758 | GAA | c.1055A>G (p.Gln352Arg)
| |
17 | g.80108389A>T | CA401364756 | GAA | c.1055A>T (p.Gln352Leu)
| |
17 | g.80108390G>A | CA502402314 | GAA | c.1056G>A (p.Gln352=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108390G>C | CA401364759 | GAA | c.1056G>C (p.Gln352His)
| |
17 | g.80108390G= | CA2277812706 | GAA | c.1056G= (p.Gln352=)
| |
17 | g.80108390G>T | CA401364760 | GAA | c.1056G>T (p.Gln352His)
| |
17 | g.80108391del | CA891862619 | GAA | c.1057del (p.Gln353SerfsTer?)
| ClinVar dbSNP |
17 | g.80108391C>A | CA401364763 | GAA | c.1057C>A (p.Gln353Lys)
| |
17 | g.80108391C>G | CA401364765 | GAA | c.1057C>G (p.Gln353Glu)
| |
17 | g.80108391C>T | CA401364766 | GAA | c.1057C>T (p.Gln353Ter)
| |
17 | g.80108392A= | CA2277812707 | GAA | c.1058A= (p.Gln353=)
| |
17 | g.80108392A>C | CA401364769 | GAA | c.1058A>C (p.Gln353Pro)
| |
17 | g.80108392A>G | CA8815135 | GAA | c.1058A>G (p.Gln353Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108392A>T | CA401364771 | GAA | c.1058A>T (p.Gln353Leu)
| |
17 | g.80108393G>A | CA294891888 | GAA | c.1059G>A (p.Gln353=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108393G>C | CA401364773 | GAA | c.1059G>C (p.Gln353His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108393G= | CA2277812708 | GAA | c.1059G= (p.Gln353=)
| |
17 | g.80108393G>T | CA401364775 | GAA | c.1059G>T (p.Gln353His)
| |
17 | g.80108394T>A | CA401364777 | GAA | c.1060T>A (p.Tyr354Asn)
| |
17 | g.80108394T>C | CA401364781 | GAA | c.1060T>C (p.Tyr354His)
| |
17 | g.80108394T>G | CA401364779 | GAA | c.1060T>G (p.Tyr354Asp)
| |
17 | g.80108395A= | CA2277812709 | GAA | c.1061A= (p.Tyr354=)
| |
17 | g.80108395A>C | CA401364783 | GAA | c.1061A>C (p.Tyr354Ser)
| dbSNP |
17 | g.80108395A>G | CA401364785 | GAA | c.1061A>G (p.Tyr354Cys)
| |
17 | g.80108395A>T | CA401364786 | GAA | c.1061A>T (p.Tyr354Phe)
| gnomAD v4 |
17 | g.80108396C>A | CA16620645 | GAA | c.1062C>A (p.Tyr354Ter)
| ClinVar dbSNP |
17 | g.80108396C= | CA2277812710 | GAA | c.1062C= (p.Tyr354=)
| |
17 | g.80108396C>G | CA401364789 | GAA | c.1062C>G (p.Tyr354Ter)
| |
17 | g.80108396C>T | CA502402325 | GAA | c.1062C>T (p.Tyr354=)
| ClinVar dbSNP |
17 | g.80108397C>A | CA401364791 | GAA | c.1063C>A (p.Leu355Met)
| |
17 | g.80108397C>G | CA401364792 | GAA | c.1063C>G (p.Leu355Val)
| |
17 | g.80108397C>T | CA502402327 | GAA | c.1063C>T (p.Leu355=)
| |
17 | g.80108398T>A | CA401364793 | GAA | c.1064T>A (p.Leu355Gln)
| |
17 | g.80108398T>C | CA8815136 | GAA | c.1064T>C (p.Leu355Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108398T>G | CA401364795 | GAA | c.1064T>G (p.Leu355Arg)
| dbSNP gnomAD v4 |
17 | g.80108398T= | CA2277812711 | GAA | c.1064T= (p.Leu355=)
| |
17 | g.80108399G>A | CA502402332 | GAA | c.1065G>A (p.Leu355=)
| ClinVar dbSNP |
17 | g.80108399G>C | CA502402328 | GAA | c.1065G>C (p.Leu355=)
| |
17 | g.80108399G>T | CA502402329 | GAA | c.1065G>T (p.Leu355=)
| |
17 | g.80108400G>A | CA401364801 | GAA | c.1066G>A (p.Asp356Asn)
| |
17 | g.80108400G>C | CA401364799 | GAA | c.1066G>C (p.Asp356His)
| |
17 | g.80108400G>T | CA401364797 | GAA | c.1066G>T (p.Asp356Tyr)
| |
17 | g.80108401A>C | CA401364803 | GAA | c.1067A>C (p.Asp356Ala)
| |
17 | g.80108401A>G | CA401364804 | GAA | c.1067A>G (p.Asp356Gly)
| |
17 | g.80108401A>T | CA401364806 | GAA | c.1067A>T (p.Asp356Val)
| |