17 | g.8003655C>A | CA397944465 | GUCY2D | c.608C>A (p.Thr203Lys)
| gnomAD v4 |
17 | g.8003655C= | CA2246053633 | GUCY2D | c.608C= (p.Thr203=)
| |
17 | g.8003655C>G | CA397944467 | GUCY2D | c.608C>G (p.Thr203Arg)
| |
17 | g.8003655C>T | CA397944469 | GUCY2D | c.608C>T (p.Thr203Met)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003656G>A | CA8365518 | GUCY2D | c.609G>A (p.Thr203=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003656G>C | CA497953038 | GUCY2D | c.609G>C (p.Thr203=)
| |
17 | g.8003656G= | CA2246053635 | GUCY2D | c.609G= (p.Thr203=)
| |
17 | g.8003656G>T | CA497953040 | GUCY2D | c.609G>T (p.Thr203=)
| dbSNP gnomAD v4 |
17 | g.8003657G>A | CA397944475 | GUCY2D | c.610G>A (p.Ala204Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003657G>C | CA397944477 | GUCY2D | c.610G>C (p.Ala204Pro)
| |
17 | g.8003657G= | CA2246053638 | GUCY2D | c.610G= (p.Ala204=)
| |
17 | g.8003657G>T | CA397944479 | GUCY2D | c.610G>T (p.Ala204Ser)
| gnomAD v4 |
17 | g.8003658C>A | CA397944482 | GUCY2D | c.611C>A (p.Ala204Glu)
| |
17 | g.8003658C= | CA2246053639 | GUCY2D | c.611C= (p.Ala204=)
| |
17 | g.8003658C>G | CA397944484 | GUCY2D | c.611C>G (p.Ala204Gly)
| |
17 | g.8003658C>T | CA397944486 | GUCY2D | c.611C>T (p.Ala204Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003659A= | CA2246053641 | GUCY2D | c.612A= (p.Ala204=)
| |
17 | g.8003659A>C | CA497953046 | GUCY2D | c.612A>C (p.Ala204=)
| |
17 | g.8003659A>G | CA497953047 | GUCY2D | c.612A>G (p.Ala204=)
| dbSNP gnomAD v4 |
17 | g.8003659A>T | CA497953048 | GUCY2D | c.612A>T (p.Ala204=)
| |
17 | g.8003660C>A | CA397944493 | GUCY2D | c.613C>A (p.Leu205Ile)
| |
17 | g.8003660C= | CA2246053643 | GUCY2D | c.613C= (p.Leu205=)
| |
17 | g.8003660C>G | CA397944489 | GUCY2D | c.613C>G (p.Leu205Val)
| |
17 | g.8003660C>T | CA8365519 | GUCY2D | c.613C>T (p.Leu205Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003661T>A | CA397944496 | GUCY2D | c.614T>A (p.Leu205His)
| |
17 | g.8003661T>C | CA397944498 | GUCY2D | c.614T>C (p.Leu205Pro)
| gnomAD v4 |
17 | g.8003661T>G | CA397944500 | GUCY2D | c.614T>G (p.Leu205Arg)
| |
17 | g.8003662C>A | CA8365520 | GUCY2D | c.615C>A (p.Leu205=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003662C= | CA2246053645 | GUCY2D | c.615C= (p.Leu205=)
| |
17 | g.8003662C>G | CA497953053 | GUCY2D | c.615C>G (p.Leu205=)
| |
17 | g.8003662C>T | CA497953055 | GUCY2D | c.615C>T (p.Leu205=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003663A>C | CA497953057 | GUCY2D | c.616A>C (p.Arg206=)
| |
17 | g.8003663A>G | CA397944505 | GUCY2D | c.616A>G (p.Arg206Gly)
| gnomAD v4 |
17 | g.8003663A>T | CA397944507 | GUCY2D | c.616A>T (p.Arg206Trp)
| |
17 | g.8003664G>A | CA397944510 | GUCY2D | c.617G>A (p.Arg206Lys)
| |
17 | g.8003664G>C | CA397944512 | GUCY2D | c.617G>C (p.Arg206Thr)
| gnomAD v4 |
17 | g.8003664G>T | CA397944514 | GUCY2D | c.617G>T (p.Arg206Met)
| gnomAD v4 |
17 | g.8003665G>A | CA497953063 | GUCY2D | c.618G>A (p.Arg206=)
| ClinVar |
17 | g.8003665G>C | CA397944517 | GUCY2D | c.618G>C (p.Arg206Ser)
| |
17 | g.8003665G>T | CA397944519 | GUCY2D | c.618G>T (p.Arg206Ser)
| gnomAD v4 |
17 | g.8003666G>A | CA397944522 | GUCY2D | c.619G>A (p.Ala207Thr)
| gnomAD v4 |
17 | g.8003666G>C | CA397944527 | GUCY2D | c.619G>C (p.Ala207Pro)
| |
17 | g.8003666G>T | CA397944525 | GUCY2D | c.619G>T (p.Ala207Ser)
| gnomAD v4 |
17 | g.8003666_8003667delinsGC | CA2246053648 | GUCY2D | c.619_620delinsGC (p.Ala207=)
| |
17 | g.8003667C>A | CA397944530 | GUCY2D | c.620C>A (p.Ala207Asp)
| |
17 | g.8003667C>G | CA397944533 | GUCY2D | c.620C>G (p.Ala207Gly)
| |
17 | g.8003667C>T | CA397944535 | GUCY2D | c.620C>T (p.Ala207Val)
| gnomAD v4 |
17 | g.8003669del | CA226151 | GUCY2D | c.622del (p.Arg208GlyfsTer8)
| ClinVar dbSNP |
17 | g.8003668C>A | CA497953073 | GUCY2D | c.621C>A (p.Ala207=)
| |
17 | g.8003668C= | CA2246053652 | GUCY2D | c.621C= (p.Ala207=)
| |
17 | g.8003668C>G | CA497953071 | GUCY2D | c.621C>G (p.Ala207=)
| |
17 | g.8003668C>T | CA8365521 | GUCY2D | c.621C>T (p.Ala207=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003669C>A | CA497953074 | GUCY2D | c.622C>A (p.Arg208=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003669C= | CA2246053655 | GUCY2D | c.622C= (p.Arg208=)
| |
17 | g.8003669C>G | CA397944542 | GUCY2D | c.622C>G (p.Arg208Gly)
| |
17 | g.8003669C>T | CA397944544 | GUCY2D | c.622C>T (p.Arg208Trp)
| gnomAD v4 |
17 | g.8003670G>A | CA397944547 | GUCY2D | c.623G>A (p.Arg208Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003670G>C | CA397944549 | GUCY2D | c.623G>C (p.Arg208Pro)
| gnomAD v4 |
17 | g.8003670G= | CA2246053657 | GUCY2D | c.623G= (p.Arg208=)
| |
17 | g.8003670G>T | CA8365522 | GUCY2D | c.623G>T (p.Arg208Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003673dup | CA2840382285 | GUCY2D | c.626dup (p.Leu210ProfsTer?)
| |
17 | g.8003673del | CA2635950743 | GUCY2D | c.626del (p.Gly209AlafsTer7)
| gnomAD v4 |
17 | g.8003671G>A | CA497953081 | GUCY2D | c.624G>A (p.Arg208=)
| ClinVar gnomAD v4 COSMIC |
17 | g.8003671G>C | CA497953082 | GUCY2D | c.624G>C (p.Arg208=)
| |
17 | g.8003671G>T | CA497953084 | GUCY2D | c.624G>T (p.Arg208=)
| |
17 | g.8003672G>A | CA397944553 | GUCY2D | c.625G>A (p.Gly209Ser)
| |
17 | g.8003672G>C | CA397944555 | GUCY2D | c.625G>C (p.Gly209Arg)
| |
17 | g.8003672G>T | CA397944558 | GUCY2D | c.625G>T (p.Gly209Cys)
| gnomAD v4 |
17 | g.8003673G>A | CA287523387 | GUCY2D | c.626G>A (p.Gly209Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003673G>C | CA397944561 | GUCY2D | c.626G>C (p.Gly209Ala)
| |
17 | g.8003673G= | CA2246053659 | GUCY2D | c.626G= (p.Gly209=)
| |
17 | g.8003673G>T | CA397944563 | GUCY2D | c.626G>T (p.Gly209Val)
| gnomAD v4 |
17 | g.8003677_8003687del | CA2695224292 | GUCY2D | c.630_640del (p.Pro211ArgfsTer?)
| |
17 | g.8003674C>A | CA497953093 | GUCY2D | c.627C>A (p.Gly209=)
| |
17 | g.8003674C= | CA2246053661 | GUCY2D | c.627C= (p.Gly209=)
| |
17 | g.8003674C>G | CA497953096 | GUCY2D | c.627C>G (p.Gly209=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003674C>T | CA497953095 | GUCY2D | c.627C>T (p.Gly209=)
| |
17 | g.8003675C>A | CA397944567 | GUCY2D | c.628C>A (p.Leu210Met)
| |
17 | g.8003675C>G | CA397944570 | GUCY2D | c.628C>G (p.Leu210Val)
| |
17 | g.8003675C>T | CA497953100 | GUCY2D | c.628C>T (p.Leu210=)
| ClinVar gnomAD v4 |
17 | g.8003676T>A | CA397944573 | GUCY2D | c.629T>A (p.Leu210Gln)
| |
17 | g.8003676T>C | CA397944574 | GUCY2D | c.629T>C (p.Leu210Pro)
| |
17 | g.8003676T>G | CA397944576 | GUCY2D | c.629T>G (p.Leu210Arg)
| |
17 | g.8003677G>A | CA8365523 | GUCY2D | c.630G>A (p.Leu210=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003677G>C | CA497953043 | GUCY2D | c.630G>C (p.Leu210=)
| |
17 | g.8003677G= | CA2246053663 | GUCY2D | c.630G= (p.Leu210=)
| |
17 | g.8003677G>T | CA497953045 | GUCY2D | c.630G>T (p.Leu210=)
| gnomAD v4 |
17 | g.8003678C>A | CA397944582 | GUCY2D | c.631C>A (p.Pro211Thr)
| gnomAD v4 |
17 | g.8003678C>G | CA397944584 | GUCY2D | c.631C>G (p.Pro211Ala)
| |
17 | g.8003678C>T | CA397944586 | GUCY2D | c.631C>T (p.Pro211Ser)
| gnomAD v4 |
17 | g.8003679C>A | CA397944588 | GUCY2D | c.632C>A (p.Pro211His)
| gnomAD v4 |
17 | g.8003679C>G | CA397944590 | GUCY2D | c.632C>G (p.Pro211Arg)
| |
17 | g.8003679C>T | CA397944591 | GUCY2D | c.632C>T (p.Pro211Leu)
| gnomAD v4 |
17 | g.8003680T>A | CA497953056 | GUCY2D | c.633T>A (p.Pro211=)
| |
17 | g.8003680T>C | CA497953058 | GUCY2D | c.633T>C (p.Pro211=)
| |
17 | g.8003680T>G | CA497953059 | GUCY2D | c.633T>G (p.Pro211=)
| |
17 | g.8003681del | CA2635950772 | GUCY2D | c.634del (p.Val212SerfsTer4)
| gnomAD v4 |
17 | g.8003681G>A | CA397944593 | GUCY2D | c.634G>A (p.Val212Ile)
| gnomAD v4 |
17 | g.8003681G>C | CA397944596 | GUCY2D | c.634G>C (p.Val212Leu)
| |
17 | g.8003681G>T | CA397944594 | GUCY2D | c.634G>T (p.Val212Phe)
| gnomAD v4 |
17 | g.8003682T>A | CA397944599 | GUCY2D | c.635T>A (p.Val212Asp)
| dbSNP gnomAD v4 |
17 | g.8003682T>C | CA397944600 | GUCY2D | c.635T>C (p.Val212Ala)
| |
17 | g.8003682T>G | CA397944602 | GUCY2D | c.635T>G (p.Val212Gly)
| |
17 | g.8003682T= | CA2246053665 | GUCY2D | c.635T= (p.Val212=)
| |
17 | g.8003683C>A | CA497953068 | GUCY2D | c.636C>A (p.Val212=)
| |
17 | g.8003683C= | CA2246053667 | GUCY2D | c.636C= (p.Val212=)
| |
17 | g.8003683C>G | CA497953069 | GUCY2D | c.636C>G (p.Val212=)
| |
17 | g.8003683C>T | CA497953072 | GUCY2D | c.636C>T (p.Val212=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8003684G>A | CA397944604 | GUCY2D | c.637G>A (p.Ala213Thr)
| gnomAD v4 |
17 | g.8003684G>C | CA397944606 | GUCY2D | c.637G>C (p.Ala213Pro)
| |
17 | g.8003684G>T | CA397944608 | GUCY2D | c.637G>T (p.Ala213Ser)
| gnomAD v4 |
17 | g.8003685C>A | CA397944611 | GUCY2D | c.638C>A (p.Ala213Asp)
| gnomAD v4 |
17 | g.8003685C>G | CA397944613 | GUCY2D | c.638C>G (p.Ala213Gly)
| |
17 | g.8003685C>T | CA397944615 | GUCY2D | c.638C>T (p.Ala213Val)
| |
17 | g.8003686C>A | CA497953083 | GUCY2D | c.639C>A (p.Ala213=)
| |
17 | g.8003686C>G | CA497953085 | GUCY2D | c.639C>G (p.Ala213=)
| |
17 | g.8003686C>T | CA497953088 | GUCY2D | c.639C>T (p.Ala213=)
| gnomAD v4 |
17 | g.8003687T>A | CA397944618 | GUCY2D | c.640T>A (p.Ser214Thr)
| |
17 | g.8003687T>C | CA397944620 | GUCY2D | c.640T>C (p.Ser214Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003687T>G | CA397944622 | GUCY2D | c.640T>G (p.Ser214Ala)
| |
17 | g.8003687T= | CA2246053669 | GUCY2D | c.640T= (p.Ser214=)
| |
17 | g.8003688C>A | CA397944629 | GUCY2D | c.641C>A (p.Ser214Tyr)
| gnomAD v4 |
17 | g.8003688C= | CA2246053671 | GUCY2D | c.641C= (p.Ser214=)
| |
17 | g.8003688C>G | CA397944625 | GUCY2D | c.641C>G (p.Ser214Cys)
| |
17 | g.8003688C>T | CA397944627 | GUCY2D | c.641C>T (p.Ser214Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003689C>A | CA497953104 | GUCY2D | c.642C>A (p.Ser214=)
| gnomAD v4 COSMIC |
17 | g.8003689C= | CA2246053674 | GUCY2D | c.642C= (p.Ser214=)
| |
17 | g.8003689C>G | CA8365525 | GUCY2D | c.642C>G (p.Ser214=)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.8003689C>T | CA8365524 | GUCY2D | c.642C>T (p.Ser214=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003690del | CA2840382286 | GUCY2D | c.643del (p.Val215Ter)
| |
17 | g.8003690G>A | CA397944635 | GUCY2D | c.643G>A (p.Val215Met)
| |
17 | g.8003690G>C | CA397944637 | GUCY2D | c.643G>C (p.Val215Leu)
| |
17 | g.8003690G>T | CA397944639 | GUCY2D | c.643G>T (p.Val215Leu)
| gnomAD v4 |
17 | g.8003691T>A | CA397944643 | GUCY2D | c.644T>A (p.Val215Glu)
| |
17 | g.8003691T>C | CA397944645 | GUCY2D | c.644T>C (p.Val215Ala)
| gnomAD v4 |
17 | g.8003691T>G | CA397944647 | GUCY2D | c.644T>G (p.Val215Gly)
| |
17 | g.8003692G>A | CA497953114 | GUCY2D | c.645G>A (p.Val215=)
| |
17 | g.8003692G>C | CA497953113 | GUCY2D | c.645G>C (p.Val215=)
| |
17 | g.8003692G>T | CA497953112 | GUCY2D | c.645G>T (p.Val215=)
| gnomAD v4 |
17 | g.8003693A= | CA2246053677 | GUCY2D | c.646A= (p.Thr216=)
| |
17 | g.8003693A>C | CA397944650 | GUCY2D | c.646A>C (p.Thr216Pro)
| |
17 | g.8003693A>G | CA397944652 | GUCY2D | c.646A>G (p.Thr216Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003693A>T | CA397944654 | GUCY2D | c.646A>T (p.Thr216Ser)
| |
17 | g.8003694C>A | CA397944659 | GUCY2D | c.647C>A (p.Thr216Asn)
| |
17 | g.8003694C= | CA2246053678 | GUCY2D | c.647C= (p.Thr216=)
| |
17 | g.8003694C>G | CA397944661 | GUCY2D | c.647C>G (p.Thr216Ser)
| gnomAD v4 |
17 | g.8003694C>T | CA8365526 | GUCY2D | c.647C>T (p.Thr216Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003695T>A | CA497953120 | GUCY2D | c.648T>A (p.Thr216=)
| |
17 | g.8003695T>C | CA497953122 | GUCY2D | c.648T>C (p.Thr216=)
| |
17 | g.8003695T>G | CA497953124 | GUCY2D | c.648T>G (p.Thr216=)
| |
17 | g.8003696del | CA2635950808 | GUCY2D | c.649del (p.Ser217ProfsTer14)
| gnomAD v4 |
17 | g.8003696T>A | CA397944667 | GUCY2D | c.649T>A (p.Ser217Thr)
| |
17 | g.8003696T>C | CA397944665 | GUCY2D | c.649T>C (p.Ser217Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003696T>G | CA397944669 | GUCY2D | c.649T>G (p.Ser217Ala)
| |
17 | g.8003696T= | CA2246053680 | GUCY2D | c.649T= (p.Ser217=)
| |
17 | g.8003697C>A | CA397944671 | GUCY2D | c.650C>A (p.Ser217Tyr)
| |
17 | g.8003697C= | CA2246053682 | GUCY2D | c.650C= (p.Ser217=)
| |
17 | g.8003697C>G | CA397944674 | GUCY2D | c.650C>G (p.Ser217Cys)
| |
17 | g.8003697C>T | CA287523392 | GUCY2D | c.650C>T (p.Ser217Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003698C>A | CA497953131 | GUCY2D | c.651C>A (p.Ser217=)
| |
17 | g.8003698C= | CA2246053684 | GUCY2D | c.651C= (p.Ser217=)
| |
17 | g.8003698C>G | CA497953134 | GUCY2D | c.651C>G (p.Ser217=)
| |
17 | g.8003698C>T | CA8365527 | GUCY2D | c.651C>T (p.Ser217=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003699del | CA2837994960 | GUCY2D | c.652del (p.Met218TrpfsTer13)
| |
17 | g.8003699A= | CA2246053687 | GUCY2D | c.652A= (p.Met218=)
| |
17 | g.8003699A>C | CA397944680 | GUCY2D | c.652A>C (p.Met218Leu)
| |
17 | g.8003699A>G | CA8365528 | GUCY2D | c.652A>G (p.Met218Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003699A>T | CA397944683 | GUCY2D | c.652A>T (p.Met218Leu)
| |
17 | g.8003699_8003718delinsATGGAGCCCTTGGACCTGTC | CA2246053688 | GUCY2D | c.652_671delinsATGGAGCCCTTGGACCTGTC (p.Met218=)
| |
17 | g.8003700T>A | CA397944686 | GUCY2D | c.653T>A (p.Met218Lys)
| |
17 | g.8003700T>C | CA397944687 | GUCY2D | c.653T>C (p.Met218Thr)
| |
17 | g.8003700T>G | CA397944688 | GUCY2D | c.653T>G (p.Met218Arg)
| |
17 | g.8003708_8003726del | CA775505594 | GUCY2D | c.661_679del (p.Leu221GlyfsTer4)
| dbSNP |
17 | g.8003701G>A | CA8365529 | GUCY2D | c.654G>A (p.Met218Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003701G>C | CA397944689 | GUCY2D | c.654G>C (p.Met218Ile)
| |
17 | g.8003701G= | CA2246053691 | GUCY2D | c.654G= (p.Met218=)
| |
17 | g.8003701G>T | CA397944690 | GUCY2D | c.654G>T (p.Met218Ile)
| gnomAD v4 |
17 | g.8003702del | CA2733193922 | GUCY2D | c.655del (p.Glu219SerfsTer12)
| dbSNP |
17 | g.8003702G>A | CA397944691 | GUCY2D | c.655G>A (p.Glu219Lys)
| |
17 | g.8003702G>C | CA397944693 | GUCY2D | c.655G>C (p.Glu219Gln)
| |
17 | g.8003702G>T | CA397944692 | GUCY2D | c.655G>T (p.Glu219Ter)
| gnomAD v4 |
17 | g.8003703A>C | CA397944694 | GUCY2D | c.656A>C (p.Glu219Ala)
| |
17 | g.8003703A>G | CA397944695 | GUCY2D | c.656A>G (p.Glu219Gly)
| |
17 | g.8003703A>T | CA397944696 | GUCY2D | c.656A>T (p.Glu219Val)
| |
17 | g.8003704G>A | CA497953148 | GUCY2D | c.657G>A (p.Glu219=)
| |
17 | g.8003704G>C | CA397944698 | GUCY2D | c.657G>C (p.Glu219Asp)
| |
17 | g.8003704G>T | CA397944699 | GUCY2D | c.657G>T (p.Glu219Asp)
| gnomAD v4 |
17 | g.8003705C>A | CA397944700 | GUCY2D | c.658C>A (p.Pro220Thr)
| dbSNP |
17 | g.8003705C= | CA2246053693 | GUCY2D | c.658C= (p.Pro220=)
| |
17 | g.8003705C>G | CA397944701 | GUCY2D | c.658C>G (p.Pro220Ala)
| |
17 | g.8003705C>T | CA397944702 | GUCY2D | c.658C>T (p.Pro220Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003706C>A | CA397944703 | GUCY2D | c.659C>A (p.Pro220His)
| |
17 | g.8003706C= | CA2246053695 | GUCY2D | c.659C= (p.Pro220=)
| |
17 | g.8003706C>G | CA397944704 | GUCY2D | c.659C>G (p.Pro220Arg)
| |
17 | g.8003706C>T | CA8365530 | GUCY2D | c.659C>T (p.Pro220Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003707C>A | CA497953162 | GUCY2D | c.660C>A (p.Pro220=)
| |
17 | g.8003707C>G | CA497953161 | GUCY2D | c.660C>G (p.Pro220=)
| |
17 | g.8003707C>T | CA497953159 | GUCY2D | c.660C>T (p.Pro220=)
| ClinVar gnomAD v4 |
17 | g.8003708T>A | CA397944705 | GUCY2D | c.661T>A (p.Leu221Met)
| |
17 | g.8003708T>C | CA497953164 | GUCY2D | c.661T>C (p.Leu221=)
| gnomAD v4 |
17 | g.8003708T>G | CA397944706 | GUCY2D | c.661T>G (p.Leu221Val)
| |
17 | g.8003709T>A | CA397944707 | GUCY2D | c.662T>A (p.Leu221Ter)
| gnomAD v4 |
17 | g.8003709T>C | CA397944708 | GUCY2D | c.662T>C (p.Leu221Ser)
| |
17 | g.8003709T>G | CA397944709 | GUCY2D | c.662T>G (p.Leu221Trp)
| |
17 | g.8003710G>A | CA497953169 | GUCY2D | c.663G>A (p.Leu221=)
| |
17 | g.8003710G>C | CA397944710 | GUCY2D | c.663G>C (p.Leu221Phe)
| gnomAD v4 |
17 | g.8003710G>T | CA397944711 | GUCY2D | c.663G>T (p.Leu221Phe)
| gnomAD v4 |
17 | g.8003711G>A | CA397944712 | GUCY2D | c.664G>A (p.Asp222Asn)
| |
17 | g.8003711G>C | CA397944713 | GUCY2D | c.664G>C (p.Asp222His)
| |
17 | g.8003711G>T | CA397944714 | GUCY2D | c.664G>T (p.Asp222Tyr)
| gnomAD v4 |
17 | g.8003712A>C | CA397944715 | GUCY2D | c.665A>C (p.Asp222Ala)
| |
17 | g.8003712A>G | CA397944716 | GUCY2D | c.665A>G (p.Asp222Gly)
| |
17 | g.8003712A>T | CA397944717 | GUCY2D | c.665A>T (p.Asp222Val)
| |
17 | g.8003713C>A | CA397944718 | GUCY2D | c.666C>A (p.Asp222Glu)
| |
17 | g.8003713C>G | CA397944719 | GUCY2D | c.666C>G (p.Asp222Glu)
| |
17 | g.8003713C>T | CA497953181 | GUCY2D | c.666C>T (p.Asp222=)
| |
17 | g.8003714C>A | CA397944721 | GUCY2D | c.667C>A (p.Leu223Met)
| |
17 | g.8003714C= | CA2246053697 | GUCY2D | c.667C= (p.Leu223=)
| |
17 | g.8003714C>G | CA397944720 | GUCY2D | c.667C>G (p.Leu223Val)
| |
17 | g.8003714C>T | CA8365531 | GUCY2D | c.667C>T (p.Leu223=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003715T>A | CA397944722 | GUCY2D | c.668T>A (p.Leu223Gln)
| |
17 | g.8003715T>C | CA8365532 | GUCY2D | c.668T>C (p.Leu223Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003715T>G | CA397944723 | GUCY2D | c.668T>G (p.Leu223Arg)
| |
17 | g.8003715T= | CA2246053700 | GUCY2D | c.668T= (p.Leu223=)
| |
17 | g.8003716G>A | CA497953187 | GUCY2D | c.669G>A (p.Leu223=)
| |
17 | g.8003716G>C | CA497953188 | GUCY2D | c.669G>C (p.Leu223=)
| |
17 | g.8003716G>T | CA497953191 | GUCY2D | c.669G>T (p.Leu223=)
| ClinVar gnomAD v4 |
17 | g.8003717T>A | CA397944724 | GUCY2D | c.670T>A (p.Ser224Thr)
| |
17 | g.8003717T>C | CA397944725 | GUCY2D | c.670T>C (p.Ser224Pro)
| |
17 | g.8003717T>G | CA397944726 | GUCY2D | c.670T>G (p.Ser224Ala)
| |
17 | g.8003718C>A | CA397944727 | GUCY2D | c.671C>A (p.Ser224Tyr)
| |
17 | g.8003718C>G | CA397944728 | GUCY2D | c.671C>G (p.Ser224Cys)
| gnomAD v4 |
17 | g.8003718C>T | CA397944730 | GUCY2D | c.671C>T (p.Ser224Phe)
| gnomAD v4 |
17 | g.8003719T>A | CA497953197 | GUCY2D | c.672T>A (p.Ser224=)
| |
17 | g.8003719T>C | CA497953199 | GUCY2D | c.672T>C (p.Ser224=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003719T>G | CA497953200 | GUCY2D | c.672T>G (p.Ser224=)
| |
17 | g.8003719T= | CA2246053702 | GUCY2D | c.672T= (p.Ser224=)
| |
17 | g.8003720G>A | CA397944733 | GUCY2D | c.673G>A (p.Gly225Arg)
| gnomAD v4 |
17 | g.8003720G>C | CA397944735 | GUCY2D | c.673G>C (p.Gly225Arg)
| |
17 | g.8003720G>T | CA397944737 | GUCY2D | c.673G>T (p.Gly225Ter)
| |
17 | g.8003721G>A | CA397944742 | GUCY2D | c.674G>A (p.Gly225Glu)
| |
17 | g.8003721G>C | CA397944745 | GUCY2D | c.674G>C (p.Gly225Ala)
| |
17 | g.8003721G>T | CA397944740 | GUCY2D | c.674G>T (p.Gly225Val)
| |
17 | g.8003722A>C | CA497953212 | GUCY2D | c.675A>C (p.Gly225=)
| |
17 | g.8003722A>G | CA497953215 | GUCY2D | c.675A>G (p.Gly225=)
| |
17 | g.8003722A>T | CA497953216 | GUCY2D | c.675A>T (p.Gly225=)
| |
17 | g.8003723del | CA2808381604 | GUCY2D | c.676del (p.Ala226ProfsTer5)
| |
17 | g.8003723G>A | CA397944753 | GUCY2D | c.676G>A (p.Ala226Thr)
| |
17 | g.8003723G>C | CA397944748 | GUCY2D | c.676G>C (p.Ala226Pro)
| |
17 | g.8003723G>T | CA397944750 | GUCY2D | c.676G>T (p.Ala226Ser)
| gnomAD v4 |
17 | g.8003724C>A | CA397944756 | GUCY2D | c.677C>A (p.Ala226Asp)
| |
17 | g.8003724C>G | CA397944758 | GUCY2D | c.677C>G (p.Ala226Gly)
| gnomAD v4 |
17 | g.8003724C>T | CA397944760 | GUCY2D | c.677C>T (p.Ala226Val)
| |
17 | g.8003725C>A | CA497953222 | GUCY2D | c.678C>A (p.Ala226=)
| gnomAD v4 |
17 | g.8003725C>G | CA497953224 | GUCY2D | c.678C>G (p.Ala226=)
| |
17 | g.8003725C>T | CA497953226 | GUCY2D | c.678C>T (p.Ala226=)
| gnomAD v4 |
17 | g.8003726C>A | CA497953228 | GUCY2D | c.679C>A (p.Arg227=)
| ClinVar dbSNP |
17 | g.8003726C= | CA2246053704 | GUCY2D | c.679C= (p.Arg227=)
| |
17 | g.8003726C>G | CA397944761 | GUCY2D | c.679C>G (p.Arg227Gly)
| |
17 | g.8003726C>T | CA397944762 | GUCY2D | c.679C>T (p.Arg227Trp)
| dbSNP gnomAD v2 |
17 | g.8003727G>A | CA8365533 | GUCY2D | c.680G>A (p.Arg227Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003727G>C | CA397944766 | GUCY2D | c.680G>C (p.Arg227Pro)
| |
17 | g.8003727G= | CA2246053706 | GUCY2D | c.680G= (p.Arg227=)
| |
17 | g.8003727G>T | CA397944768 | GUCY2D | c.680G>T (p.Arg227Leu)
| |
17 | g.8003728G>A | CA497953238 | GUCY2D | c.681G>A (p.Arg227=)
| ClinVar |
17 | g.8003728G>C | CA497953237 | GUCY2D | c.681G>C (p.Arg227=)
| |
17 | g.8003728G>T | CA497953236 | GUCY2D | c.681G>T (p.Arg227=)
| gnomAD v4 |
17 | g.8003729G>A | CA397944771 | GUCY2D | c.682G>A (p.Glu228Lys)
| |
17 | g.8003729G>C | CA397944773 | GUCY2D | c.682G>C (p.Glu228Gln)
| |
17 | g.8003729G>T | CA397944775 | GUCY2D | c.682G>T (p.Glu228Ter)
| |
17 | g.8003730A>C | CA397944782 | GUCY2D | c.683A>C (p.Glu228Ala)
| |
17 | g.8003730A>G | CA397944778 | GUCY2D | c.683A>G (p.Glu228Gly)
| |
17 | g.8003730A>T | CA397944780 | GUCY2D | c.683A>T (p.Glu228Val)
| |
17 | g.8003731G>A | CA497953243 | GUCY2D | c.684G>A (p.Glu228=)
| |
17 | g.8003731G>C | CA397944785 | GUCY2D | c.684G>C (p.Glu228Asp)
| |
17 | g.8003731G>T | CA397944787 | GUCY2D | c.684G>T (p.Glu228Asp)
| |
17 | g.8003732G>A | CA397944790 | GUCY2D | c.685G>A (p.Ala229Thr)
| dbSNP gnomAD v4 |
17 | g.8003732G>C | CA397944792 | GUCY2D | c.685G>C (p.Ala229Pro)
| |
17 | g.8003732G= | CA2246053707 | GUCY2D | c.685G= (p.Ala229=)
| |
17 | g.8003732G>T | CA8365534 | GUCY2D | c.685G>T (p.Ala229Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003733C>A | CA397944796 | GUCY2D | c.686C>A (p.Ala229Asp)
| gnomAD v4 |
17 | g.8003733C>G | CA397944798 | GUCY2D | c.686C>G (p.Ala229Gly)
| |
17 | g.8003733C>T | CA397944801 | GUCY2D | c.686C>T (p.Ala229Val)
| COSMIC |
17 | g.8003734C>A | CA497953255 | GUCY2D | c.687C>A (p.Ala229=)
| |
17 | g.8003734C>G | CA497953256 | GUCY2D | c.687C>G (p.Ala229=)
| |
17 | g.8003734C>T | CA497953257 | GUCY2D | c.687C>T (p.Ala229=)
| |
17 | g.8003735C>A | CA397944803 | GUCY2D | c.688C>A (p.Leu230Met)
| |
17 | g.8003735C>G | CA397944805 | GUCY2D | c.688C>G (p.Leu230Val)
| gnomAD v4 |
17 | g.8003735C>T | CA497953259 | GUCY2D | c.688C>T (p.Leu230=)
| |
17 | g.8003736T>A | CA397944809 | GUCY2D | c.689T>A (p.Leu230Gln)
| |
17 | g.8003736T>C | CA397944810 | GUCY2D | c.689T>C (p.Leu230Pro)
| |
17 | g.8003736T>G | CA397944812 | GUCY2D | c.689T>G (p.Leu230Arg)
| |
17 | g.8003737G>A | CA497953263 | GUCY2D | c.690G>A (p.Leu230=)
| |
17 | g.8003737G>C | CA497953265 | GUCY2D | c.690G>C (p.Leu230=)
| |
17 | g.8003737G>T | CA497953268 | GUCY2D | c.690G>T (p.Leu230=)
| |
17 | g.8003737_8003740del | CA2499224989 | GUCY2D | c.690_693del (p.Lys232PhefsTer10)
| ClinVar dbSNP |
17 | g.8003738A>C | CA497953270 | GUCY2D | c.691A>C (p.Arg231=)
| |
17 | g.8003738A>G | CA397944815 | GUCY2D | c.691A>G (p.Arg231Gly)
| |
17 | g.8003738A>T | CA397944817 | GUCY2D | c.691A>T (p.Arg231Trp)
| |
17 | g.8003739G>A | CA397944820 | GUCY2D | c.692G>A (p.Arg231Lys)
| dbSNP gnomAD v2 |
17 | g.8003739G>C | CA397944821 | GUCY2D | c.692G>C (p.Arg231Thr)
| |
17 | g.8003739G= | CA2246053710 | GUCY2D | c.692G= (p.Arg231=)
| |
17 | g.8003739G>T | CA397944824 | GUCY2D | c.692G>T (p.Arg231Met)
| |
17 | g.8003740dup | CA2695224293 | GUCY2D | c.693dup (p.Lys232GlufsTer?)
| |
17 | g.8003740G>A | CA497953277 | GUCY2D | c.693G>A (p.Arg231=)
| |
17 | g.8003740G>C | CA397944826 | GUCY2D | c.693G>C (p.Arg231Ser)
| |
17 | g.8003740G= | CA2246053711 | GUCY2D | c.693G= (p.Arg231=)
| |
17 | g.8003740G>T | CA8365535 | GUCY2D | c.693G>T (p.Arg231Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003741A>C | CA397944831 | GUCY2D | c.694A>C (p.Lys232Gln)
| |
17 | g.8003741A>G | CA397944833 | GUCY2D | c.694A>G (p.Lys232Glu)
| gnomAD v4 |
17 | g.8003741A>T | CA397944835 | GUCY2D | c.694A>T (p.Lys232Ter)
| |
17 | g.8003742A>C | CA397944839 | GUCY2D | c.695A>C (p.Lys232Thr)
| |
17 | g.8003742A>G | CA397944840 | GUCY2D | c.695A>G (p.Lys232Arg)
| |
17 | g.8003742A>T | CA397944843 | GUCY2D | c.695A>T (p.Lys232Met)
| |
17 | g.8003743G>A | CA497953292 | GUCY2D | c.696G>A (p.Lys232=)
| |
17 | g.8003743G>C | CA397944846 | GUCY2D | c.696G>C (p.Lys232Asn)
| |
17 | g.8003743G= | CA2246053714 | GUCY2D | c.696G= (p.Lys232=)
| |
17 | g.8003743G>T | CA8365536 | GUCY2D | c.696G>T (p.Lys232Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003744G>A | CA397944852 | GUCY2D | c.697G>A (p.Val233Ile)
| |
17 | g.8003744G>C | CA397944854 | GUCY2D | c.697G>C (p.Val233Leu)
| |
17 | g.8003744G= | CA2246053717 | GUCY2D | c.697G= (p.Val233=)
| |
17 | g.8003744G>T | CA397944850 | GUCY2D | c.697G>T (p.Val233Phe)
| dbSNP gnomAD v4 |
17 | g.8003744_8003751delinsGTTCGGGA | CA2246053718 | GUCY2D | c.697_704delinsGTTCGGGA (p.Val233=)
| |
17 | g.8003745T>A | CA397944857 | GUCY2D | c.698T>A (p.Val233Asp)
| |
17 | g.8003745T>C | CA397944858 | GUCY2D | c.698T>C (p.Val233Ala)
| gnomAD v4 |
17 | g.8003745T>G | CA397944860 | GUCY2D | c.698T>G (p.Val233Gly)
| |
17 | g.8003745_8003751del | CA2246053721 | GUCY2D | c.698_704del (p.Val233AlafsTer8)
| dbSNP |
17 | g.8003746T>A | CA497953303 | GUCY2D | c.699T>A (p.Val233=)
| |
17 | g.8003746T>C | CA497953304 | GUCY2D | c.699T>C (p.Val233=)
| |
17 | g.8003746T>G | CA497953306 | GUCY2D | c.699T>G (p.Val233=)
| |
17 | g.8003747C>A | CA497953308 | GUCY2D | c.700C>A (p.Arg234=)
| |
17 | g.8003747C= | CA2246053722 | GUCY2D | c.700C= (p.Arg234=)
| |
17 | g.8003747C>G | CA397944864 | GUCY2D | c.700C>G (p.Arg234Gly)
| |
17 | g.8003747C>T | CA397944866 | GUCY2D | c.700C>T (p.Arg234Trp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003748G>A | CA397944873 | GUCY2D | c.701G>A (p.Arg234Gln)
| |
17 | g.8003748G>C | CA8365537 | GUCY2D | c.701G>C (p.Arg234Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003748G= | CA2246053725 | GUCY2D | c.701G= (p.Arg234=)
| |
17 | g.8003748G>T | CA397944870 | GUCY2D | c.701G>T (p.Arg234Leu)
| gnomAD v4 |
17 | g.8003749G>A | CA497953311 | GUCY2D | c.702G>A (p.Arg234=)
| gnomAD v4 |
17 | g.8003749G>C | CA497953313 | GUCY2D | c.702G>C (p.Arg234=)
| |
17 | g.8003749G>T | CA497953312 | GUCY2D | c.702G>T (p.Arg234=)
| |
17 | g.8003750G>A | CA397944876 | GUCY2D | c.703G>A (p.Asp235Asn)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003750G>C | CA397944878 | GUCY2D | c.703G>C (p.Asp235His)
| |
17 | g.8003750G= | CA2246053727 | GUCY2D | c.703G= (p.Asp235=)
| |
17 | g.8003750G>T | CA397944880 | GUCY2D | c.703G>T (p.Asp235Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003751A>C | CA397944883 | GUCY2D | c.704A>C (p.Asp235Ala)
| |
17 | g.8003751A>G | CA397944885 | GUCY2D | c.704A>G (p.Asp235Gly)
| |
17 | g.8003751A>T | CA397944887 | GUCY2D | c.704A>T (p.Asp235Val)
| |
17 | g.8003752C>A | CA397944892 | GUCY2D | c.705C>A (p.Asp235Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003752C= | CA2246053729 | GUCY2D | c.705C= (p.Asp235=)
| |
17 | g.8003752C>G | CA397944890 | GUCY2D | c.705C>G (p.Asp235Glu)
| gnomAD v4 |
17 | g.8003752C>T | CA497953330 | GUCY2D | c.705C>T (p.Asp235=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003753G>A | CA397944896 | GUCY2D | c.706G>A (p.Gly236Arg)
| dbSNP |
17 | g.8003753G>C | CA397944900 | GUCY2D | c.706G>C (p.Gly236Arg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003753G= | CA2246053731 | GUCY2D | c.706G= (p.Gly236=)
| |
17 | g.8003753G>T | CA397944897 | GUCY2D | c.706G>T (p.Gly236Trp)
| |
17 | g.8003754G>A | CA8365538 | GUCY2D | c.707G>A (p.Gly236Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003754G>C | CA397944906 | GUCY2D | c.707G>C (p.Gly236Ala)
| |
17 | g.8003754G= | CA2246053733 | GUCY2D | c.707G= (p.Gly236=)
| |
17 | g.8003754G>T | CA397944904 | GUCY2D | c.707G>T (p.Gly236Val)
| gnomAD v4 |
17 | g.8003755G>A | CA497953339 | GUCY2D | c.708G>A (p.Gly236=)
| |
17 | g.8003755G>C | CA497953340 | GUCY2D | c.708G>C (p.Gly236=)
| |
17 | g.8003755G= | CA2246053735 | GUCY2D | c.708G= (p.Gly236=)
| |
17 | g.8003755G>T | CA287523438 | GUCY2D | c.708G>T (p.Gly236=)
| ClinVar dbSNP gnomAD v4 |