Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418601A= | CA1329209884 | DES | c.139A= (p.Ser47=) | |
2 | g.219418601A>C | CA350683288 | DES | c.139A>C (p.Ser47Arg) | |
2 | g.219418601A>G | CA65980788 | DES | c.139A>G (p.Ser47Gly) | dbSNP |
2 | g.219418601A>T | CA350683283 | DES | c.139A>T (p.Ser47Cys) | |
2 | g.219418602G>A | CA350683303 | DES | c.140G>A (p.Ser47Asn) | |
2 | g.219418602G>C | CA350683309 | DES | c.140G>C (p.Ser47Thr) | |
2 | g.219418602G>T | CA350683312 | DES | c.140G>T (p.Ser47Ile) | ClinVar dbSNP |
2 | g.219418603C>A | CA2125032 | DES | c.141C>A (p.Ser47Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418603C= | CA1329209885 | DES | c.141C= (p.Ser47=) | |
2 | g.219418603C>G | CA350683339 | DES | c.141C>G (p.Ser47Arg) | |
2 | g.219418603C>T | CA431427524 | DES | c.141C>T (p.Ser47=) | |
2 | g.219418604T>A | CA350683344 | DES | c.142T>A (p.Ser48Thr) | |
2 | g.219418604T>C | CA350683347 | DES | c.142T>C (p.Ser48Pro) | |
2 | g.219418604T>G | CA350683348 | DES | c.142T>G (p.Ser48Ala) | |
2 | g.219418604_219418608del | CA2663249089 | DES | c.142_146del (p.Ser48AspfsTer?) | gnomAD v4 |
2 | g.219418605C>A | CA350683352 | DES | c.143C>A (p.Ser48Ter) | gnomAD v4 |
2 | g.219418605C>G | CA350683353 | DES | c.143C>G (p.Ser48Trp) | |
2 | g.219418605C>T | CA350683357 | DES | c.143C>T (p.Ser48Leu) | gnomAD v4 |
2 | g.219418606G>A | CA431427528 | DES | c.144G>A (p.Ser48=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418606G>C | CA431427530 | DES | c.144G>C (p.Ser48=) | |
2 | g.219418606G= | CA1329209886 | DES | c.144G= (p.Ser48=) | |
2 | g.219418606G>T | CA431427531 | DES | c.144G>T (p.Ser48=) | gnomAD v4 |
2 | g.219418607G>A | CA350683367 | DES | c.145G>A (p.Val49Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418607G>C | CA350683360 | DES | c.145G>C (p.Val49Leu) | |
2 | g.219418607G= | CA1329209887 | DES | c.145G= (p.Val49=) | |
2 | g.219418607G>T | CA350683362 | DES | c.145G>T (p.Val49Leu) | |
2 | g.219418608T>A | CA350683373 | DES | c.146T>A (p.Val49Glu) | |
2 | g.219418608T>C | CA308287 | DES | c.146T>C (p.Val49Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418608T>G | CA350683393 | DES | c.146T>G (p.Val49Gly) | |
2 | g.219418608T= | CA1329209888 | DES | c.146T= (p.Val49=) | |
2 | g.219418609G>A | CA431427534 | DES | c.147G>A (p.Val49=) | |
2 | g.219418609G>C | CA431427537 | DES | c.147G>C (p.Val49=) | gnomAD v4 |
2 | g.219418609G>T | CA431427536 | DES | c.147G>T (p.Val49=) | |
2 | g.219418610A= | CA1329209889 | DES | c.148A= (p.Thr50=) | |
2 | g.219418610A>C | CA350683394 | DES | c.148A>C (p.Thr50Pro) | |
2 | g.219418610A>G | CA350683395 | DES | c.148A>G (p.Thr50Ala) | |
2 | g.219418610A>T | CA2125033 | DES | c.148A>T (p.Thr50Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418611C>A | CA350683396 | DES | c.149C>A (p.Thr50Lys) | gnomAD v4 |
2 | g.219418611C>G | CA350683397 | DES | c.149C>G (p.Thr50Arg) | |
2 | g.219418611C>T | CA350683398 | DES | c.149C>T (p.Thr50Met) | gnomAD v4 |
2 | g.219418612G>A | CA431427539 | DES | c.150G>A (p.Thr50=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418612G>C | CA431427540 | DES | c.150G>C (p.Thr50=) | |
2 | g.219418612G= | CA1329209890 | DES | c.150G= (p.Thr50=) | |
2 | g.219418612G>T | CA431427542 | DES | c.150G>T (p.Thr50=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418613T>A | CA350683400 | DES | c.151T>A (p.Ser51Thr) | |
2 | g.219418613T>C | CA350683402 | DES | c.151T>C (p.Ser51Pro) | |
2 | g.219418613T>G | CA350683403 | DES | c.151T>G (p.Ser51Ala) | |
2 | g.219418614C>A | CA350683415 | DES | c.152C>A (p.Ser51Tyr) | |
2 | g.219418614C>G | CA350683418 | DES | c.152C>G (p.Ser51Cys) | |
2 | g.219418614C>T | CA350683406 | DES | c.152C>T (p.Ser51Phe) | |
2 | g.219418615C>A | CA431427548 | DES | c.153C>A (p.Ser51=) | gnomAD v4 |
2 | g.219418615C>G | CA431427550 | DES | c.153C>G (p.Ser51=) | |
2 | g.219418615C>T | CA431427549 | DES | c.153C>T (p.Ser51=) | |
2 | g.219418616C>A | CA308290 | DES | c.154C>A (p.Arg52Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.219418616C= | CA1329209891 | DES | c.154C= (p.Arg52=) | |
2 | g.219418616C>G | CA350683421 | DES | c.154C>G (p.Arg52Gly) | |
2 | g.219418616C>T | CA350683424 | DES | c.154C>T (p.Arg52Cys) | gnomAD v3 gnomAD v4 |
2 | g.219418617G>A | CA350683426 | DES | c.155G>A (p.Arg52His) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.219418617G>C | CA350683428 | DES | c.155G>C (p.Arg52Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418617G= | CA1329209892 | DES | c.155G= (p.Arg52=) | |
2 | g.219418617G>T | CA350683437 | DES | c.155G>T (p.Arg52Leu) | gnomAD v4 |
2 | g.219418618C>A | CA431427553 | DES | c.156C>A (p.Arg52=) | gnomAD v4 |
2 | g.219418618C>G | CA431427554 | DES | c.156C>G (p.Arg52=) | |
2 | g.219418618C>T | CA431427555 | DES | c.156C>T (p.Arg52=) | ClinVar gnomAD v4 |
2 | g.219418619G>A | CA350683452 | DES | c.157G>A (p.Val53Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418619G>C | CA350683447 | DES | c.157G>C (p.Val53Leu) | |
2 | g.219418619G= | CA1329209893 | DES | c.157G= (p.Val53=) | |
2 | g.219418619G>T | CA350683443 | DES | c.157G>T (p.Val53Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.219418620T>A | CA350683457 | DES | c.158T>A (p.Val53Glu) | |
2 | g.219418620T>C | CA350683459 | DES | c.158T>C (p.Val53Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418620T>G | CA350683472 | DES | c.158T>G (p.Val53Gly) | |
2 | g.219418620T= | CA1329209894 | DES | c.158T= (p.Val53=) | |
2 | g.219418621G>A | CA431427564 | DES | c.159G>A (p.Val53=) | gnomAD v4 |
2 | g.219418621G>C | CA431427565 | DES | c.159G>C (p.Val53=) | gnomAD v4 |
2 | g.219418621G= | CA1329209895 | DES | c.159G= (p.Val53=) | |
2 | g.219418621G>T | CA431427566 | DES | c.159G>T (p.Val53=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418622T>A | CA350683476 | DES | c.160T>A (p.Tyr54Asn) | |
2 | g.219418622T>C | CA350683483 | DES | c.160T>C (p.Tyr54His) | |
2 | g.219418622T>G | CA350683486 | DES | c.160T>G (p.Tyr54Asp) | |
2 | g.219418623A>C | CA350683492 | DES | c.161A>C (p.Tyr54Ser) | |
2 | g.219418623A>G | CA350683501 | DES | c.161A>G (p.Tyr54Cys) | |
2 | g.219418623A>T | CA350683495 | DES | c.161A>T (p.Tyr54Phe) | |
2 | g.219418624C>A | CA350683505 | DES | c.162C>A (p.Tyr54Ter) | dbSNP gnomAD v4 |
2 | g.219418624C= | CA1329209896 | DES | c.162C= (p.Tyr54=) | |
2 | g.219418624C>G | CA16616729 | DES | c.162C>G (p.Tyr54Ter) | gnomAD v4 |
2 | g.219418624C>T | CA431427569 | DES | c.162C>T (p.Tyr54=) | |
2 | g.219418625C>A | CA350683509 | DES | c.163C>A (p.Gln55Lys) | dbSNP gnomAD v4 |
2 | g.219418625C= | CA1329209897 | DES | c.163C= (p.Gln55=) | |
2 | g.219418625C>G | CA350683511 | DES | c.163C>G (p.Gln55Glu) | |
2 | g.219418625C>T | CA350683513 | DES | c.163C>T (p.Gln55Ter) | ClinVar gnomAD v4 |
2 | g.219418626A>C | CA350683515 | DES | c.164A>C (p.Gln55Pro) | |
2 | g.219418626A>G | CA350683520 | DES | c.164A>G (p.Gln55Arg) | |
2 | g.219418626A>T | CA350683524 | DES | c.164A>T (p.Gln55Leu) | ClinVar gnomAD v4 |
2 | g.219418627G>A | CA431427574 | DES | c.165G>A (p.Gln55=) | dbSNP |
2 | g.219418627G>C | CA350683526 | DES | c.165G>C (p.Gln55His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418627G= | CA1329209898 | DES | c.165G= (p.Gln55=) | |
2 | g.219418627G>T | CA350683529 | DES | c.165G>T (p.Gln55His) | gnomAD v4 |
2 | g.219418628G>A | CA350683538 | DES | c.166G>A (p.Val56Met) | |
2 | g.219418628G>C | CA308293 | DES | c.166G>C (p.Val56Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418628G= | CA1329209899 | DES | c.166G= (p.Val56=) | |
2 | g.219418628G>T | CA350683533 | DES | c.166G>T (p.Val56Leu) | ClinVar gnomAD v4 |
2 | g.219418629T>A | CA350683551 | DES | c.167T>A (p.Val56Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418629T>C | CA350683554 | DES | c.167T>C (p.Val56Ala) | gnomAD v4 |
2 | g.219418629T>G | CA350683560 | DES | c.167T>G (p.Val56Gly) | |
2 | g.219418629T= | CA1329209900 | DES | c.167T= (p.Val56=) | |
2 | g.219418630G>A | CA2125034 | DES | c.168G>A (p.Val56=) | dbSNP ExAC gnomAD v4 |
2 | g.219418630G>C | CA431427581 | DES | c.168G>C (p.Val56=) | |
2 | g.219418630G= | CA1329209901 | DES | c.168G= (p.Val56=) | |
2 | g.219418630G>T | CA431427583 | DES | c.168G>T (p.Val56=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418631T>A | CA350683564 | DES | c.169T>A (p.Ser57Thr) | |
2 | g.219418631T>C | CA350683565 | DES | c.169T>C (p.Ser57Pro) | gnomAD v4 |
2 | g.219418631T>G | CA350683573 | DES | c.169T>G (p.Ser57Ala) | |
2 | g.219418632C>A | CA350683578 | DES | c.170C>A (p.Ser57Ter) | |
2 | g.219418632C= | CA1329209902 | DES | c.170C= (p.Ser57=) | |
2 | g.219418632C>G | CA350683579 | DES | c.170C>G (p.Ser57Trp) | dbSNP |
2 | g.219418632C>T | CA133832 | DES | c.170C>T (p.Ser57Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418633G>A | CA431427592 | DES | c.171G>A (p.Ser57=) | gnomAD v4 |
2 | g.219418633G>C | CA431427594 | DES | c.171G>C (p.Ser57=) | dbSNP |
2 | g.219418633G= | CA1329209903 | DES | c.171G= (p.Ser57=) | |
2 | g.219418633G>T | CA431427595 | DES | c.171G>T (p.Ser57=) | ClinVar gnomAD v4 |
2 | g.219418633dup | CA2586971376 | DES | c.171dup (p.Arg58AlafsTer?) | |
2 | g.219418634C>A | CA350683594 | DES | c.172C>A (p.Arg58Ser) | gnomAD v4 |
2 | g.219418634C>G | CA350683605 | DES | c.172C>G (p.Arg58Gly) | |
2 | g.219418634C>T | CA350683608 | DES | c.172C>T (p.Arg58Cys) | ClinVar gnomAD v4 |
2 | g.219418635G>A | CA350683633 | DES | c.173G>A (p.Arg58His) | gnomAD v4 |
2 | g.219418635G>C | CA350683613 | DES | c.173G>C (p.Arg58Pro) | |
2 | g.219418635G>T | CA350683631 | DES | c.173G>T (p.Arg58Leu) | ClinVar gnomAD v4 COSMIC |
2 | g.219418636C>A | CA431427609 | DES | c.174C>A (p.Arg58=) | gnomAD v4 |
2 | g.219418636C>G | CA431427612 | DES | c.174C>G (p.Arg58=) | |
2 | g.219418636C>T | CA431427614 | DES | c.174C>T (p.Arg58=) | |
2 | g.219418637A= | CA1329209904 | DES | c.175A= (p.Thr59=) | |
2 | g.219418637A>C | CA350683637 | DES | c.175A>C (p.Thr59Pro) | |
2 | g.219418637A>G | CA350683641 | DES | c.175A>G (p.Thr59Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418637A>T | CA350683643 | DES | c.175A>T (p.Thr59Ser) | |
2 | g.219418638C>A | CA350683645 | DES | c.176C>A (p.Thr59Lys) | gnomAD v4 |
2 | g.219418638C= | CA1329209905 | DES | c.176C= (p.Thr59=) | |
2 | g.219418638C>G | CA350683652 | DES | c.176C>G (p.Thr59Arg) | |
2 | g.219418638C>T | CA2125035 | DES | c.176C>T (p.Thr59Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418639G>A | CA431427622 | DES | c.177G>A (p.Thr59=) | |
2 | g.219418639G>C | CA431427624 | DES | c.177G>C (p.Thr59=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418639G= | CA1329209906 | DES | c.177G= (p.Thr59=) | |
2 | g.219418639G>T | CA431427625 | DES | c.177G>T (p.Thr59=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418640T>A | CA350683663 | DES | c.178T>A (p.Ser60Thr) | |
2 | g.219418640T>C | CA350683667 | DES | c.178T>C (p.Ser60Pro) | |
2 | g.219418640T>G | CA350683670 | DES | c.178T>G (p.Ser60Ala) | ClinVar dbSNP |
2 | g.219418641C>A | CA350683672 | DES | c.179C>A (p.Ser60Ter) | gnomAD v4 |
2 | g.219418641C= | CA1329209907 | DES | c.179C= (p.Ser60=) | |
2 | g.219418641C>G | CA350683673 | DES | c.179C>G (p.Ser60Trp) | |
2 | g.219418641C>T | CA65980872 | DES | c.179C>T (p.Ser60Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.219418642G>A | CA431427630 | DES | c.180G>A (p.Ser60=) | gnomAD v4 |
2 | g.219418642G>C | CA431427631 | DES | c.180G>C (p.Ser60=) | |
2 | g.219418642G>T | CA431427632 | DES | c.180G>T (p.Ser60=) | gnomAD v4 |
2 | g.219418643G>A | CA350683688 | DES | c.181G>A (p.Gly61Ser) | |
2 | g.219418643G>C | CA350683691 | DES | c.181G>C (p.Gly61Arg) | |
2 | g.219418643G>T | CA350683686 | DES | c.181G>T (p.Gly61Cys) | |
2 | g.219418644G>A | CA350683705 | DES | c.182G>A (p.Gly61Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418644G>C | CA350683696 | DES | c.182G>C (p.Gly61Ala) | |
2 | g.219418644G= | CA1329209908 | DES | c.182G= (p.Gly61=) | |
2 | g.219418644G>T | CA350683699 | DES | c.182G>T (p.Gly61Val) | gnomAD v4 COSMIC |
2 | g.219418645C>A | CA65980891 | DES | c.183C>A (p.Gly61=) | dbSNP gnomAD v4 |
2 | g.219418645C= | CA1329209909 | DES | c.183C= (p.Gly61=) | |
2 | g.219418645C>G | CA431427642 | DES | c.183C>G (p.Gly61=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418645C>T | CA431427641 | DES | c.183C>T (p.Gly61=) | gnomAD v4 COSMIC |
2 | g.219418646G>A | CA10606335 | DES | c.184G>A (p.Gly62Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418646G>C | CA350683709 | DES | c.184G>C (p.Gly62Arg) | |
2 | g.219418646G= | CA1329209910 | DES | c.184G= (p.Gly62=) | |
2 | g.219418646G>T | CA350683729 | DES | c.184G>T (p.Gly62Trp) | gnomAD v4 |
2 | g.219418649del | CA2663249254 | DES | c.187del (p.Ala63ProfsTer?) | gnomAD v4 |
2 | g.219418647G>A | CA2125036 | DES | c.185G>A (p.Gly62Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418647G>C | CA350683735 | DES | c.185G>C (p.Gly62Ala) | gnomAD v4 |
2 | g.219418647G= | CA1329209911 | DES | c.185G= (p.Gly62=) | |
2 | g.219418647G>T | CA350683731 | DES | c.185G>T (p.Gly62Val) | |
2 | g.219418648G>A | CA431427650 | DES | c.186G>A (p.Gly62=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418648G>C | CA431427651 | DES | c.186G>C (p.Gly62=) | |
2 | g.219418648G= | CA1329209912 | DES | c.186G= (p.Gly62=) | |
2 | g.219418648G>T | CA431427652 | DES | c.186G>T (p.Gly62=) | ClinVar dbSNP |
2 | g.219418649G>A | CA350683736 | DES | c.187G>A (p.Ala63Thr) | gnomAD v4 |
2 | g.219418649G>C | CA350683739 | DES | c.187G>C (p.Ala63Pro) | |
2 | g.219418649G>T | CA350683740 | DES | c.187G>T (p.Ala63Ser) | gnomAD v4 |
2 | g.219418650C>A | CA350683744 | DES | c.188C>A (p.Ala63Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418650C= | CA1329209913 | DES | c.188C= (p.Ala63=) | |
2 | g.219418650C>G | CA350683758 | DES | c.188C>G (p.Ala63Gly) | |
2 | g.219418650C>T | CA350683763 | DES | c.188C>T (p.Ala63Val) | ClinVar dbSNP gnomAD v4 |
2 | g.219418651C>A | CA431427655 | DES | c.189C>A (p.Ala63=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418651C= | CA1329209914 | DES | c.189C= (p.Ala63=) | |
2 | g.219418651C>G | CA431427657 | DES | c.189C>G (p.Ala63=) | |
2 | g.219418651C>T | CA431427656 | DES | c.189C>T (p.Ala63=) | gnomAD v4 |
2 | g.219418652G>A | CA350683767 | DES | c.190G>A (p.Gly64Arg) | ClinVar gnomAD v4 COSMIC |
2 | g.219418652G>C | CA350683770 | DES | c.190G>C (p.Gly64Arg) | gnomAD v4 |
2 | g.219418652G>T | CA350683768 | DES | c.190G>T (p.Gly64Trp) | gnomAD v4 |
2 | g.219418656dup | CA539843119 | DES | c.194dup (p.Leu66ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418656del | CA2663249295 | DES | c.194del (p.Gly65AlafsTer?) | gnomAD v4 |
2 | g.219418653G>A | CA350683775 | DES | c.191G>A (p.Gly64Glu) | |
2 | g.219418653G>C | CA350683778 | DES | c.191G>C (p.Gly64Ala) | |
2 | g.219418653G>T | CA350683782 | DES | c.191G>T (p.Gly64Val) | |
2 | g.219418657_219418663del | CA2663249309 | DES | c.195_201del (p.Leu66ArgfsTer?) | gnomAD v4 |
2 | g.219418654G>A | CA431427660 | DES | c.192G>A (p.Gly64=) | gnomAD v4 COSMIC |
2 | g.219418654G>C | CA431427664 | DES | c.192G>C (p.Gly64=) | gnomAD v4 |
2 | g.219418654G>T | CA431427662 | DES | c.192G>T (p.Gly64=) | gnomAD v4 |
2 | g.219418655G>A | CA133838 | DES | c.193G>A (p.Gly65Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418655G>C | CA350683783 | DES | c.193G>C (p.Gly65Arg) | ClinVar |
2 | g.219418655G= | CA1329209915 | DES | c.193G= (p.Gly65=) | |
2 | g.219418655G>T | CA350683786 | DES | c.193G>T (p.Gly65Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418656G>A | CA350683794 | DES | c.194G>A (p.Gly65Asp) | gnomAD v4 COSMIC |
2 | g.219418656G>C | CA350683795 | DES | c.194G>C (p.Gly65Ala) | gnomAD v4 |
2 | g.219418656G>T | CA350683796 | DES | c.194G>T (p.Gly65Val) | |
2 | g.219418657C>A | CA431427668 | DES | c.195C>A (p.Gly65=) | gnomAD v4 |
2 | g.219418657C= | CA1329209916 | DES | c.195C= (p.Gly65=) | |
2 | g.219418657C>G | CA431427669 | DES | c.195C>G (p.Gly65=) | |
2 | g.219418657C>T | CA431427671 | DES | c.195C>T (p.Gly65=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418658C>A | CA350683798 | DES | c.196C>A (p.Leu66Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418658C= | CA1329209917 | DES | c.196C= (p.Leu66=) | |
2 | g.219418658C>G | CA350683802 | DES | c.196C>G (p.Leu66Val) | |
2 | g.219418658C>T | CA431427678 | DES | c.196C>T (p.Leu66=) | gnomAD v4 |
2 | g.219418659T>A | CA350683804 | DES | c.197T>A (p.Leu66Gln) | gnomAD v4 |
2 | g.219418659T>C | CA350683816 | DES | c.197T>C (p.Leu66Pro) | gnomAD v4 |
2 | g.219418659T>G | CA350683807 | DES | c.197T>G (p.Leu66Arg) | |
2 | g.219418660G>A | CA431427682 | DES | c.198G>A (p.Leu66=) | gnomAD v4 |
2 | g.219418660G>C | CA431427684 | DES | c.198G>C (p.Leu66=) | gnomAD v4 |
2 | g.219418660G>T | CA431427683 | DES | c.198G>T (p.Leu66=) | gnomAD v4 |
2 | g.219418663del | CA2663249374 | DES | c.201del (p.Ser68ArgfsTer?) | gnomAD v4 |
2 | g.219418661G>A | CA2125037 | DES | c.199G>A (p.Gly67Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418661G>C | CA350683827 | DES | c.199G>C (p.Gly67Arg) | |
2 | g.219418661G= | CA1329209918 | DES | c.199G= (p.Gly67=) | |
2 | g.219418661G>T | CA350683832 | DES | c.199G>T (p.Gly67Trp) | gnomAD v4 |
2 | g.219418662G>A | CA350683834 | DES | c.200G>A (p.Gly67Glu) | |
2 | g.219418662G>C | CA350683839 | DES | c.200G>C (p.Gly67Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418662G= | CA1329209919 | DES | c.200G= (p.Gly67=) | |
2 | g.219418662G>T | CA350683842 | DES | c.200G>T (p.Gly67Val) | gnomAD v4 |
2 | g.219418663G>A | CA431427692 | DES | c.201G>A (p.Gly67=) | |
2 | g.219418663G>C | CA431427694 | DES | c.201G>C (p.Gly67=) | |
2 | g.219418663G= | CA1329209920 | DES | c.201G= (p.Gly67=) | |
2 | g.219418663G>T | CA431427695 | DES | c.201G>T (p.Gly67=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418664T>A | CA350683846 | DES | c.202T>A (p.Ser68Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418664T>C | CA350683847 | DES | c.202T>C (p.Ser68Pro) | |
2 | g.219418664T>G | CA350683853 | DES | c.202T>G (p.Ser68Ala) | |
2 | g.219418664T= | CA1329209921 | DES | c.202T= (p.Ser68=) | |
2 | g.219418665C>A | CA350683858 | DES | c.203C>A (p.Ser68Ter) | gnomAD v4 |
2 | g.219418665C>G | CA350683862 | DES | c.203C>G (p.Ser68Trp) | |
2 | g.219418665C>T | CA350683867 | DES | c.203C>T (p.Ser68Leu) | |
2 | g.219418666G>A | CA431427698 | DES | c.204G>A (p.Ser68=) | dbSNP gnomAD v4 |
2 | g.219418666G>C | CA431427699 | DES | c.204G>C (p.Ser68=) | |
2 | g.219418666G= | CA1329209922 | DES | c.204G= (p.Ser68=) | |
2 | g.219418666G>T | CA431427700 | DES | c.204G>T (p.Ser68=) | gnomAD v4 |
2 | g.219418666_219418667delinsAT | CA2740096472 | DES | c.204_205delinsAT (p.Ser68=) | ClinVar |
2 | g.219418667C>A | CA350683874 | DES | c.205C>A (p.Leu69Met) | gnomAD v4 |
2 | g.219418667C>G | CA350683873 | DES | c.205C>G (p.Leu69Val) | |
2 | g.219418667C>T | CA431427702 | DES | c.205C>T (p.Leu69=) | ClinVar dbSNP |
2 | g.219418668T>A | CA350683876 | DES | c.206T>A (p.Leu69Gln) | |
2 | g.219418668T>C | CA350683882 | DES | c.206T>C (p.Leu69Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418668T>G | CA350683884 | DES | c.206T>G (p.Leu69Arg) | |
2 | g.219418668T= | CA1329209923 | DES | c.206T= (p.Leu69=) | |
2 | g.219418669G>A | CA431427717 | DES | c.207G>A (p.Leu69=) | |
2 | g.219418669G>C | CA431427710 | DES | c.207G>C (p.Leu69=) | |
2 | g.219418669G>T | CA431427716 | DES | c.207G>T (p.Leu69=) | gnomAD v4 |
2 | g.219418670C>A | CA431427718 | DES | c.208C>A (p.Arg70=) | gnomAD v4 |
2 | g.219418670C>G | CA350683886 | DES | c.208C>G (p.Arg70Gly) | gnomAD v4 |
2 | g.219418670C>T | CA350683890 | DES | c.208C>T (p.Arg70Trp) | ClinVar dbSNP gnomAD v4 |
2 | g.219418671G>A | CA350683894 | DES | c.209G>A (p.Arg70Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418671G>C | CA16610610 | DES | c.209G>C (p.Arg70Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418671G= | CA1329209924 | DES | c.209G= (p.Arg70=) | |
2 | g.219418671G>T | CA350683899 | DES | c.209G>T (p.Arg70Leu) | gnomAD v4 |
2 | g.219418673del | CA2754326382 | DES | c.211del (p.Ala71ProfsTer27) | |
2 | g.219418673_219418687dup | CA2506678581 | DES | c.211_225dup (p.Gly75_Thr76insAlaSerArgLeuGly) | gnomAD v4 |
2 | g.219418672G>A | CA16610717 | DES | c.210G>A (p.Arg70=) | ClinVar dbSNP |
2 | g.219418672G>C | CA10604110 | DES | c.210G>C (p.Arg70=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418672G= | CA1329209925 | DES | c.210G= (p.Arg70=) | |
2 | g.219418672G>T | CA431427726 | DES | c.210G>T (p.Arg70=) | gnomAD v4 |
2 | g.219418673G>A | CA350683931 | DES | c.211G>A (p.Ala71Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418673G>C | CA350683934 | DES | c.211G>C (p.Ala71Pro) | gnomAD v4 |
2 | g.219418673G= | CA1329209926 | DES | c.211G= (p.Ala71=) | |
2 | g.219418673G>T | CA350683936 | DES | c.211G>T (p.Ala71Ser) | ClinVar gnomAD v4 |
2 | g.219418674C>A | CA350683950 | DES | c.212C>A (p.Ala71Asp) | gnomAD v4 |
2 | g.219418674C= | CA1329209927 | DES | c.212C= (p.Ala71=) | |
2 | g.219418674C>G | CA350683954 | DES | c.212C>G (p.Ala71Gly) | dbSNP gnomAD v4 |
2 | g.219418674C>T | CA068076 | DES | c.212C>T (p.Ala71Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418675C>A | CA431427739 | DES | c.213C>A (p.Ala71=) | |
2 | g.219418675C>G | CA431427737 | DES | c.213C>G (p.Ala71=) | |
2 | g.219418675C>T | CA431427738 | DES | c.213C>T (p.Ala71=) | ClinVar gnomAD v4 |
2 | g.219418676A>C | CA350683968 | DES | c.214A>C (p.Ser72Arg) | |
2 | g.219418676A>G | CA350683960 | DES | c.214A>G (p.Ser72Gly) | gnomAD v4 |
2 | g.219418676A>T | CA350683965 | DES | c.214A>T (p.Ser72Cys) | |
2 | g.219418677G>A | CA350683982 | DES | c.215G>A (p.Ser72Asn) | gnomAD v4 |
2 | g.219418677G>C | CA350683999 | DES | c.215G>C (p.Ser72Thr) | |
2 | g.219418677G>T | CA350684003 | DES | c.215G>T (p.Ser72Ile) | gnomAD v4 |
2 | g.219418678C>A | CA238726 | DES | c.216C>A (p.Ser72Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418678C= | CA1329209928 | DES | c.216C= (p.Ser72=) | |
2 | g.219418678C>G | CA350684020 | DES | c.216C>G (p.Ser72Arg) | |
2 | g.219418678C>T | CA431427748 | DES | c.216C>T (p.Ser72=) | gnomAD v4 |
2 | g.219418679C>A | CA431427754 | DES | c.217C>A (p.Arg73=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418679C= | CA1329209929 | DES | c.217C= (p.Arg73=) | |
2 | g.219418679C>G | CA350684039 | DES | c.217C>G (p.Arg73Gly) | |
2 | g.219418679C>T | CA350684042 | DES | c.217C>T (p.Arg73Trp) | dbSNP gnomAD v4 |
2 | g.219418680G>A | CA2125038 | DES | c.218G>A (p.Arg73Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418680G>C | CA350684064 | DES | c.218G>C (p.Arg73Pro) | |
2 | g.219418680G= | CA1329209930 | DES | c.218G= (p.Arg73=) | |
2 | g.219418680G>T | CA10581946 | DES | c.218G>T (p.Arg73Leu) | ClinVar dbSNP |
2 | g.219418681G>A | CA431427764 | DES | c.219G>A (p.Arg73=) | ClinVar gnomAD v4 |
2 | g.219418681G>C | CA431427766 | DES | c.219G>C (p.Arg73=) | |
2 | g.219418681G>T | CA431427767 | DES | c.219G>T (p.Arg73=) | gnomAD v4 |
2 | g.219418682C>A | CA350684067 | DES | c.220C>A (p.Leu74Met) | gnomAD v4 |
2 | g.219418682C>G | CA350684069 | DES | c.220C>G (p.Leu74Val) | |
2 | g.219418682C>T | CA431427770 | DES | c.220C>T (p.Leu74=) | |
2 | g.219418683T>A | CA350684075 | DES | c.221T>A (p.Leu74Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.219418683T>C | CA350684097 | DES | c.221T>C (p.Leu74Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418683T>G | CA350684086 | DES | c.221T>G (p.Leu74Arg) | |
2 | g.219418683T= | CA1329209931 | DES | c.221T= (p.Leu74=) | |
2 | g.219418684G>A | CA431427772 | DES | c.222G>A (p.Leu74=) | gnomAD v4 |
2 | g.219418684G>C | CA431427773 | DES | c.222G>C (p.Leu74=) | |
2 | g.219418684G>T | CA431427775 | DES | c.222G>T (p.Leu74=) | gnomAD v4 |
2 | g.219418685G>A | CA350684110 | DES | c.223G>A (p.Gly75Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418685G>C | CA350684114 | DES | c.223G>C (p.Gly75Arg) | |
2 | g.219418685G= | CA1329209932 | DES | c.223G= (p.Gly75=) | |
2 | g.219418685G>T | CA350684119 | DES | c.223G>T (p.Gly75Trp) | gnomAD v4 |
2 | g.219418686G>A | CA2125039 | DES | c.224G>A (p.Gly75Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418686G>C | CA350684134 | DES | c.224G>C (p.Gly75Ala) | |
2 | g.219418686G= | CA1329209933 | DES | c.224G= (p.Gly75=) | |
2 | g.219418686G>T | CA350684139 | DES | c.224G>T (p.Gly75Val) | gnomAD v4 |
2 | g.219418687G>A | CA2125041 | DES | c.225G>A (p.Gly75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418687G>C | CA2125040 | DES | c.225G>C (p.Gly75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418687G= | CA1329209934 | DES | c.225G= (p.Gly75=) | |
2 | g.219418687G>T | CA431427787 | DES | c.225G>T (p.Gly75=) | gnomAD v4 |
2 | g.219418687_219418688delinsGA | CA1329209935 | DES | c.225_226delinsGA (p.Gly75=) | |
2 | g.219418688del | CA16616730 | DES | c.226del (p.Thr76ProfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418688A>C | CA350684141 | DES | c.226A>C (p.Thr76Pro) | |
2 | g.219418688A>G | CA350684146 | DES | c.226A>G (p.Thr76Ala) | |
2 | g.219418688A>T | CA350684152 | DES | c.226A>T (p.Thr76Ser) | dbSNP |
2 | g.219418691_219418693del | CA2513286435 | DES | c.229_231del (p.Thr77del) | ClinVar |
2 | g.219418689C>A | CA350684175 | DES | c.227C>A (p.Thr76Asn) | gnomAD v4 |
2 | g.219418689C= | CA1329209936 | DES | c.227C= (p.Thr76=) | |
2 | g.219418689C>G | CA350684172 | DES | c.227C>G (p.Thr76Ser) | |
2 | g.219418689C>T | CA2125042 | DES | c.227C>T (p.Thr76Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418690del | CA2663249560 | DES | c.228del (p.Thr77ProfsTer21) | gnomAD v4 |
2 | g.219418690C>A | CA431427799 | DES | c.228C>A (p.Thr76=) | gnomAD v4 |
2 | g.219418690C= | CA1329209937 | DES | c.228C= (p.Thr76=) | |
2 | g.219418690C>G | CA2125043 | DES | c.228C>G (p.Thr76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418690C>T | CA2125044 | DES | c.228C>T (p.Thr76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418691A= | CA1329209939 | DES | c.229A= (p.Thr77=) | |
2 | g.219418691A>C | CA350684212 | DES | c.229A>C (p.Thr77Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418691A>G | CA2125045 | DES | c.229A>G (p.Thr77Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418691A>T | CA350684219 | DES | c.229A>T (p.Thr77Ser) | |
2 | g.219418691_219418693delinsACC | CA1329209938 | DES | c.229_231delinsACC (p.Thr77=) | |
2 | g.219418692C>A | CA350684228 | DES | c.230C>A (p.Thr77Asn) | gnomAD v4 |
2 | g.219418692C= | CA1329209941 | DES | c.230C= (p.Thr77=) | |
2 | g.219418692C>G | CA350684239 | DES | c.230C>G (p.Thr77Ser) | |
2 | g.219418692C>T | CA350684245 | DES | c.230C>T (p.Thr77Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.219418693_219418694del | CA1329209940 | DES | c.231_232del (p.Arg78HisfsTer?) | dbSNP |
2 | g.219418693C>A | CA431427809 | DES | c.231C>A (p.Thr77=) | ClinVar gnomAD v4 |
2 | g.219418693C>G | CA431427811 | DES | c.231C>G (p.Thr77=) | |
2 | g.219418693C>T | CA431427812 | DES | c.231C>T (p.Thr77=) | gnomAD v4 |
2 | g.219418694C>A | CA350684254 | DES | c.232C>A (p.Arg78Ser) | gnomAD v4 |
2 | g.219418694C= | CA1329209942 | DES | c.232C= (p.Arg78=) | |
2 | g.219418694C>G | CA350684261 | DES | c.232C>G (p.Arg78Gly) | gnomAD v4 |
2 | g.219418694C>T | CA350684263 | DES | c.232C>T (p.Arg78Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418695G>A | CA350684270 | DES | c.233G>A (p.Arg78His) | gnomAD v4 |
2 | g.219418695G>C | CA350684278 | DES | c.233G>C (p.Arg78Pro) | |
2 | g.219418695G= | CA1329209943 | DES | c.233G= (p.Arg78=) | |
2 | g.219418695G>T | CA308301 | DES | c.233G>T (p.Arg78Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418696C>A | CA431427818 | DES | c.234C>A (p.Arg78=) | gnomAD v4 |
2 | g.219418696C>G | CA431427819 | DES | c.234C>G (p.Arg78=) | |
2 | g.219418696C>T | CA431427822 | DES | c.234C>T (p.Arg78=) | |
2 | g.219418697A>C | CA350684306 | DES | c.235A>C (p.Thr79Pro) | ClinVar |
2 | g.219418697A>G | CA350684294 | DES | c.235A>G (p.Thr79Ala) | dbSNP |
2 | g.219418697A>T | CA350684292 | DES | c.235A>T (p.Thr79Ser) | |
2 | g.219418698C>A | CA350684310 | DES | c.236C>A (p.Thr79Lys) | |
2 | g.219418698C= | CA1329209944 | DES | c.236C= (p.Thr79=) | |
2 | g.219418698C>G | CA350684311 | DES | c.236C>G (p.Thr79Arg) | |
2 | g.219418698C>T | CA350684312 | DES | c.236C>T (p.Thr79Met) | ClinVar dbSNP gnomAD v4 |
2 | g.219418699G>A | CA233899 | DES | c.237G>A (p.Thr79=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418699G>C | CA431427829 | DES | c.237G>C (p.Thr79=) | gnomAD v4 |
2 | g.219418699G= | CA1329209945 | DES | c.237G= (p.Thr79=) | |
2 | g.219418699G>T | CA431427832 | DES | c.237G>T (p.Thr79=) | gnomAD v4 |
2 | g.219418700C>A | CA350684321 | DES | c.238C>A (p.Pro80Thr) | gnomAD v4 |
2 | g.219418700C>G | CA350684322 | DES | c.238C>G (p.Pro80Ala) | |
2 | g.219418700C>T | CA350684323 | DES | c.238C>T (p.Pro80Ser) | ClinVar gnomAD v4 |
2 | g.219418701C>A | CA350684326 | DES | c.239C>A (p.Pro80His) | gnomAD v4 |
2 | g.219418701C>G | CA350684339 | DES | c.239C>G (p.Pro80Arg) | |
2 | g.219418701C>T | CA350684352 | DES | c.239C>T (p.Pro80Leu) | dbSNP gnomAD v4 |
2 | g.219418707_219418709dup | CA2663249661 | DES | c.245_247dup (p.Ser82_Tyr83insSer) | gnomAD v4 |
2 | g.219418707_219418709del | CA2580616702 | DES | c.245_247del (p.Ser82del) | ClinVar |