Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.230710642G>A | CA345207443 | AGT | c.182C>T (p.Ala61Val) n.693C>T c.209C>T (p.Ala70Val) | gnomAD v4 |
1 | g.230710642G>C | CA345207444 | AGT | c.182C>G (p.Ala61Gly) n.693C>G c.209C>G (p.Ala70Gly) | |
1 | g.230710642G>T | CA345207445 | AGT | c.182C>A (p.Ala61Asp) n.693C>A c.209C>A (p.Ala70Asp) | COSMIC |
1 | g.230710643C>A | CA345207446 | AGT | c.181G>T (p.Ala61Ser) n.692G>T c.208G>T (p.Ala70Ser) | |
1 | g.230710643C= | CA1146203446 | AGT | c.181G= (p.Ala61=) n.692G= c.208G= (p.Ala70=) | |
1 | g.230710643C>G | CA345207447 | AGT | c.181G>C (p.Ala61Pro) n.692G>C c.208G>C (p.Ala70Pro) | |
1 | g.230710643C>T | CA38872188 | AGT | c.181G>A (p.Ala61Thr) n.692G>A c.208G>A (p.Ala70Thr) | dbSNP gnomAD v4 |
1 | g.230710644A= | CA1226658641 | AGT | c.180T= (p.Pro60=) n.691T= c.207T= (p.Pro69=) | |
1 | g.230710644A>C | CA424036731 | AGT | c.180T>G (p.Pro60=) n.691T>G c.207T>G (p.Pro69=) | gnomAD v4 |
1 | g.230710644A>G | CA424036730 | AGT | c.180T>C (p.Pro60=) n.691T>C c.207T>C (p.Pro69=) | dbSNP |
1 | g.230710644A>T | CA424036729 | AGT | c.180T>A (p.Pro60=) n.691T>A c.207T>A (p.Pro69=) | |
1 | g.230710645G>A | CA1448357 | AGT | c.179C>T (p.Pro60Leu) n.690C>T c.206C>T (p.Pro69Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710645G>C | CA345207448 | AGT | c.179C>G (p.Pro60Arg) n.690C>G c.206C>G (p.Pro69Arg) | |
1 | g.230710645G= | CA1147552511 | AGT | c.179C= (p.Pro60=) n.690C= c.206C= (p.Pro69=) | |
1 | g.230710645G>T | CA345207449 | AGT | c.179C>A (p.Pro60His) n.690C>A c.206C>A (p.Pro69His) | |
1 | g.230710646G>A | CA345207451 | AGT | c.178C>T (p.Pro60Ser) n.689C>T c.205C>T (p.Pro69Ser) | dbSNP gnomAD v4 |
1 | g.230710646G>C | CA345207452 | AGT | c.178C>G (p.Pro60Ala) n.689C>G c.205C>G (p.Pro69Ala) | |
1 | g.230710646G= | CA1226658647 | AGT | c.178C= (p.Pro60=) n.689C= c.205C= (p.Pro69=) | |
1 | g.230710646G>T | CA345207450 | AGT | c.178C>A (p.Pro60Thr) n.689C>A c.205C>A (p.Pro69Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710647T>A | CA424036732 | AGT | c.177A>T (p.Ile59=) n.688A>T c.204A>T (p.Ile68=) | |
1 | g.230710647T>C | CA345207453 | AGT | c.177A>G (p.Ile59Met) n.688A>G c.204A>G (p.Ile68Met) | |
1 | g.230710647T>G | CA424036734 | AGT | c.177A>C (p.Ile59=) n.688A>C c.204A>C (p.Ile68=) | |
1 | g.230710648A= | CA1226658652 | AGT | c.176T= (p.Ile59=) n.687T= c.203T= (p.Ile68=) | |
1 | g.230710648A>C | CA345207456 | AGT | c.176T>G (p.Ile59Arg) n.687T>G c.203T>G (p.Ile68Arg) | |
1 | g.230710648A>G | CA345207454 | AGT | c.176T>C (p.Ile59Thr) n.687T>C c.203T>C (p.Ile68Thr) | dbSNP |
1 | g.230710648A>T | CA345207455 | AGT | c.176T>A (p.Ile59Lys) n.687T>A c.203T>A (p.Ile68Lys) | |
1 | g.230710649_230710651dup | CA2650971416 | AGT | c.174_176dup (p.Ile59_Pro60insIle) n.685_687dup c.201_203dup (p.Ile68_Pro69insIle) | gnomAD v4 |
1 | g.230710649T>A | CA345207457 | AGT | c.175A>T (p.Ile59Leu) n.686A>T c.202A>T (p.Ile68Leu) | |
1 | g.230710649T>C | CA345207458 | AGT | c.175A>G (p.Ile59Val) n.686A>G c.202A>G (p.Ile68Val) | |
1 | g.230710649T>G | CA345207459 | AGT | c.175A>C (p.Ile59Leu) n.686A>C c.202A>C (p.Ile68Leu) | |
1 | g.230710650G>A | CA424036740 | AGT | c.174C>T (p.Phe58=) n.685C>T c.201C>T (p.Phe67=) | COSMIC |
1 | g.230710650G>C | CA1448358 | AGT | c.174C>G (p.Phe58Leu) n.685C>G c.201C>G (p.Phe67Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710650G= | CA1143684692 | AGT | c.174C= (p.Phe58=) n.685C= c.201C= (p.Phe67=) | |
1 | g.230710650G>T | CA345207460 | AGT | c.174C>A (p.Phe58Leu) n.685C>A c.201C>A (p.Phe67Leu) | |
1 | g.230710651A>C | CA345207461 | AGT | c.173T>G (p.Phe58Cys) n.684T>G c.200T>G (p.Phe67Cys) | |
1 | g.230710651A>G | CA345207462 | AGT | c.173T>C (p.Phe58Ser) n.684T>C c.200T>C (p.Phe67Ser) | |
1 | g.230710651A>T | CA345207463 | AGT | c.173T>A (p.Phe58Tyr) n.684T>A c.200T>A (p.Phe67Tyr) | |
1 | g.230710652A>C | CA345207464 | AGT | c.172T>G (p.Phe58Val) n.683T>G c.199T>G (p.Phe67Val) | |
1 | g.230710652A>G | CA345207465 | AGT | c.172T>C (p.Phe58Leu) n.683T>C c.199T>C (p.Phe67Leu) | |
1 | g.230710652A>T | CA345207466 | AGT | c.172T>A (p.Phe58Ile) n.683T>A c.199T>A (p.Phe67Ile) | |
1 | g.230710653G>A | CA424036745 | AGT | c.171C>T (p.Thr57=) n.682C>T c.198C>T (p.Thr66=) | |
1 | g.230710653G>C | CA424036746 | AGT | c.171C>G (p.Thr57=) n.682C>G c.198C>G (p.Thr66=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710653G= | CA1226658659 | AGT | c.171C= (p.Thr57=) n.682C= c.198C= (p.Thr66=) | |
1 | g.230710653G>T | CA1448359 | AGT | c.171C>A (p.Thr57=) n.682C>A c.198C>A (p.Thr66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710654G>A | CA345207467 | AGT | c.170C>T (p.Thr57Ile) n.681C>T c.197C>T (p.Thr66Ile) | gnomAD v4 |
1 | g.230710654G>C | CA345207468 | AGT | c.170C>G (p.Thr57Ser) n.681C>G c.197C>G (p.Thr66Ser) | |
1 | g.230710654G>T | CA345207469 | AGT | c.170C>A (p.Thr57Asn) n.681C>A c.197C>A (p.Thr66Asn) | |
1 | g.230710655T>A | CA345207470 | AGT | c.169A>T (p.Thr57Ser) n.680A>T c.196A>T (p.Thr66Ser) | |
1 | g.230710655T>C | CA345207471 | AGT | c.169A>G (p.Thr57Ala) n.680A>G c.196A>G (p.Thr66Ala) | |
1 | g.230710655T>G | CA345207472 | AGT | c.169A>C (p.Thr57Pro) n.680A>C c.196A>C (p.Thr66Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710655T= | CA1226658665 | AGT | c.169A= (p.Thr57=) n.680A= c.196A= (p.Thr66=) | |
1 | g.230710656G>A | CA424036751 | AGT | c.168C>T (p.Pro56=) n.679C>T c.195C>T (p.Pro65=) | |
1 | g.230710656G>C | CA424036752 | AGT | c.168C>G (p.Pro56=) n.679C>G c.195C>G (p.Pro65=) | |
1 | g.230710656G>T | CA424036754 | AGT | c.168C>A (p.Pro56=) n.679C>A c.195C>A (p.Pro65=) | |
1 | g.230710657G>A | CA345207473 | AGT | c.167C>T (p.Pro56Leu) n.678C>T c.194C>T (p.Pro65Leu) | gnomAD v4 |
1 | g.230710657G>C | CA345207474 | AGT | c.167C>G (p.Pro56Arg) n.678C>G c.194C>G (p.Pro65Arg) | |
1 | g.230710657G>T | CA345207475 | AGT | c.167C>A (p.Pro56His) n.678C>A c.194C>A (p.Pro65His) | |
1 | g.230710658G>A | CA345207476 | AGT | c.166C>T (p.Pro56Ser) n.677C>T c.193C>T (p.Pro65Ser) | |
1 | g.230710658G>C | CA345207477 | AGT | c.166C>G (p.Pro56Ala) n.677C>G c.193C>G (p.Pro65Ala) | |
1 | g.230710658G>T | CA345207478 | AGT | c.166C>A (p.Pro56Thr) n.677C>A c.193C>A (p.Pro65Thr) | |
1 | g.230710659G>A | CA38872197 | AGT | c.165C>T (p.Asp55=) n.676C>T c.192C>T (p.Asp64=) | dbSNP |
1 | g.230710659G>C | CA345207480 | AGT | c.165C>G (p.Asp55Glu) n.676C>G c.192C>G (p.Asp64Glu) | |
1 | g.230710659G= | CA1226658669 | AGT | c.165C= (p.Asp55=) n.676C= c.192C= (p.Asp64=) | |
1 | g.230710659G>T | CA345207479 | AGT | c.165C>A (p.Asp55Glu) n.676C>A c.192C>A (p.Asp64Glu) | |
1 | g.230710660T>A | CA345207481 | AGT | c.164A>T (p.Asp55Val) n.675A>T c.191A>T (p.Asp64Val) | |
1 | g.230710660T>C | CA345207482 | AGT | c.164A>G (p.Asp55Gly) n.675A>G c.191A>G (p.Asp64Gly) | |
1 | g.230710660T>G | CA345207483 | AGT | c.164A>C (p.Asp55Ala) n.675A>C c.191A>C (p.Asp64Ala) | |
1 | g.230710661C>A | CA1448360 | AGT | c.163G>T (p.Asp55Tyr) n.674G>T c.190G>T (p.Asp64Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.230710661C= | CA1144000887 | AGT | c.163G= (p.Asp55=) n.674G= c.190G= (p.Asp64=) | |
1 | g.230710661C>G | CA345207484 | AGT | c.163G>C (p.Asp55His) n.674G>C c.190G>C (p.Asp64His) | gnomAD v4 |
1 | g.230710661C>T | CA345207485 | AGT | c.163G>A (p.Asp55Asn) n.674G>A c.190G>A (p.Asp64Asn) | dbSNP |
1 | g.230710662T>A | CA345207487 | AGT | c.162A>T (p.Lys54Asn) n.673A>T c.189A>T (p.Lys63Asn) | |
1 | g.230710662T>C | CA424036878 | AGT | c.162A>G (p.Lys54=) n.673A>G c.189A>G (p.Lys63=) | |
1 | g.230710662T>G | CA345207486 | AGT | c.162A>C (p.Lys54Asn) n.673A>C c.189A>C (p.Lys63Asn) | |
1 | g.230710662_230710663delinsA | CA2573051513 | AGT | c.161_162delinsT (p.Lys54MetfsTer28) n.672_673delinsT c.188_189delinsT (p.Lys63MetfsTer28) | ClinVar dbSNP |
1 | g.230710663T>A | CA345207488 | AGT | c.161A>T (p.Lys54Ile) n.672A>T c.188A>T (p.Lys63Ile) | |
1 | g.230710663T>C | CA345207489 | AGT | c.161A>G (p.Lys54Arg) n.672A>G c.188A>G (p.Lys63Arg) | |
1 | g.230710663T>G | CA345207490 | AGT | c.161A>C (p.Lys54Thr) n.672A>C c.188A>C (p.Lys63Thr) | |
1 | g.230710664T>A | CA345207491 | AGT | c.160A>T (p.Lys54Ter) n.671A>T c.187A>T (p.Lys63Ter) | |
1 | g.230710664T>C | CA1448361 | AGT | c.160A>G (p.Lys54Glu) n.671A>G c.187A>G (p.Lys63Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710664T>G | CA345207492 | AGT | c.160A>C (p.Lys54Gln) n.671A>C c.187A>C (p.Lys63Gln) | |
1 | g.230710664T= | CA1148898860 | AGT | c.160A= (p.Lys54=) n.671A= c.187A= (p.Lys63=) | |
1 | g.230710665G>A | CA424036883 | AGT | c.159C>T (p.Pro53=) n.670C>T c.186C>T (p.Pro62=) | |
1 | g.230710665G>C | CA424036884 | AGT | c.159C>G (p.Pro53=) n.670C>G c.186C>G (p.Pro62=) | |
1 | g.230710665G>T | CA424036885 | AGT | c.159C>A (p.Pro53=) n.670C>A c.186C>A (p.Pro62=) | |
1 | g.230710666G>A | CA345207493 | AGT | c.158C>T (p.Pro53Leu) n.669C>T c.185C>T (p.Pro62Leu) | dbSNP gnomAD v4 |
1 | g.230710666G>C | CA345207495 | AGT | c.158C>G (p.Pro53Arg) n.669C>G c.185C>G (p.Pro62Arg) | |
1 | g.230710666G= | CA1226658676 | AGT | c.158C= (p.Pro53=) n.669C= c.185C= (p.Pro62=) | |
1 | g.230710666G>T | CA345207494 | AGT | c.158C>A (p.Pro53His) n.669C>A c.185C>A (p.Pro62His) | |
1 | g.230710667G>A | CA1448362 | AGT | c.157C>T (p.Pro53Ser) n.668C>T c.184C>T (p.Pro62Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710667G>C | CA345207496 | AGT | c.157C>G (p.Pro53Ala) n.668C>G c.184C>G (p.Pro62Ala) | |
1 | g.230710667G= | CA1141866010 | AGT | c.157C= (p.Pro53=) n.668C= c.184C= (p.Pro62=) | |
1 | g.230710667G>T | CA38872237 | AGT | c.157C>A (p.Pro53Thr) n.668C>A c.184C>A (p.Pro62Thr) | dbSNP gnomAD v4 |
1 | g.230710668C>A | CA1448363 | AGT | c.156G>T (p.Lys52Asn) n.667G>T c.183G>T (p.Lys61Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.230710668C= | CA1226658683 | AGT | c.156G= (p.Lys52=) n.667G= c.183G= (p.Lys61=) | |
1 | g.230710668C>G | CA345207497 | AGT | c.156G>C (p.Lys52Asn) n.667G>C c.183G>C (p.Lys61Asn) | |
1 | g.230710668C>T | CA424036889 | AGT | c.156G>A (p.Lys52=) n.667G>A c.183G>A (p.Lys61=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710669T>A | CA345207498 | AGT | c.155A>T (p.Lys52Met) n.666A>T c.182A>T (p.Lys61Met) | |
1 | g.230710669T>C | CA345207499 | AGT | c.155A>G (p.Lys52Arg) n.666A>G c.182A>G (p.Lys61Arg) | |
1 | g.230710669T>G | CA345207500 | AGT | c.155A>C (p.Lys52Thr) n.666A>C c.182A>C (p.Lys61Thr) | |
1 | g.230710670T>A | CA345207501 | AGT | c.154A>T (p.Lys52Ter) n.665A>T c.181A>T (p.Lys61Ter) | |
1 | g.230710670T>C | CA345207502 | AGT | c.154A>G (p.Lys52Glu) n.665A>G c.181A>G (p.Lys61Glu) | |
1 | g.230710670T>G | CA345207503 | AGT | c.154A>C (p.Lys52Gln) n.665A>C c.181A>C (p.Lys61Gln) | |
1 | g.230710671C>A | CA424036891 | AGT | c.153G>T (p.Gly51=) n.664G>T c.180G>T (p.Gly60=) | |
1 | g.230710671C>G | CA424036893 | AGT | c.153G>C (p.Gly51=) n.664G>C c.180G>C (p.Gly60=) | |
1 | g.230710671C>T | CA424036892 | AGT | c.153G>A (p.Gly51=) n.664G>A c.180G>A (p.Gly60=) | |
1 | g.230710673del | CA2650971417 | AGT | c.153del (p.Lys52SerfsTer?) n.664del c.180del (p.Lys61SerfsTer?) | gnomAD v4 |
1 | g.230710672C>A | CA345207504 | AGT | c.152G>T (p.Gly51Val) n.663G>T c.179G>T (p.Gly60Val) | |
1 | g.230710672C= | CA1226658689 | AGT | c.152G= (p.Gly51=) n.663G= c.179G= (p.Gly60=) | |
1 | g.230710672C>G | CA345207506 | AGT | c.152G>C (p.Gly51Ala) n.663G>C c.179G>C (p.Gly60Ala) | |
1 | g.230710672C>T | CA345207505 | AGT | c.152G>A (p.Gly51Glu) n.663G>A c.179G>A (p.Gly60Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710673C>A | CA345207507 | AGT | c.151G>T (p.Gly51Trp) n.662G>T c.178G>T (p.Gly60Trp) | gnomAD v4 |
1 | g.230710673C= | CA1148241940 | AGT | c.151G= (p.Gly51=) n.662G= c.178G= (p.Gly60=) | |
1 | g.230710673C>G | CA345207508 | AGT | c.151G>C (p.Gly51Arg) n.662G>C c.178G>C (p.Gly60Arg) | |
1 | g.230710673C>T | CA1448364 | AGT | c.151G>A (p.Gly51Arg) n.662G>A c.178G>A (p.Gly60Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710674G>A | CA1448365 | AGT | c.150C>T (p.Ala50=) n.661C>T c.177C>T (p.Ala59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.230710674G>C | CA424036900 | AGT | c.150C>G (p.Ala50=) n.661C>G c.177C>G (p.Ala59=) | |
1 | g.230710674G= | CA1226658695 | AGT | c.150C= (p.Ala50=) n.661C= c.177C= (p.Ala59=) | |
1 | g.230710674G>T | CA424036901 | AGT | c.150C>A (p.Ala50=) n.661C>A c.177C>A (p.Ala59=) | |
1 | g.230710675G>A | CA345207511 | AGT | c.149C>T (p.Ala50Val) n.660C>T c.176C>T (p.Ala59Val) | COSMIC |
1 | g.230710675G>C | CA345207509 | AGT | c.149C>G (p.Ala50Gly) n.660C>G c.176C>G (p.Ala59Gly) | |
1 | g.230710675G>T | CA345207510 | AGT | c.149C>A (p.Ala50Asp) n.660C>A c.176C>A (p.Ala59Asp) | |
1 | g.230710676C>A | CA345207512 | AGT | c.148G>T (p.Ala50Ser) n.659G>T c.175G>T (p.Ala59Ser) | |
1 | g.230710676C= | CA1226658697 | AGT | c.148G= (p.Ala50=) n.659G= c.175G= (p.Ala59=) | |
1 | g.230710676C>G | CA345207513 | AGT | c.148G>C (p.Ala50Pro) n.659G>C c.175G>C (p.Ala59Pro) | |
1 | g.230710676C>T | CA1448366 | AGT | c.148G>A (p.Ala50Thr) n.659G>A c.175G>A (p.Ala59Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.230710677A= | CA1226658701 | AGT | c.147T= (p.Asn49=) n.658T= c.174T= (p.Asn58=) | |
1 | g.230710677A>C | CA345207514 | AGT | c.147T>G (p.Asn49Lys) n.658T>G c.174T>G (p.Asn58Lys) | |
1 | g.230710677A>G | CA424036903 | AGT | c.147T>C (p.Asn49=) n.658T>C c.174T>C (p.Asn58=) | COSMIC |
1 | g.230710677A>T | CA345207515 | AGT | c.147T>A (p.Asn49Lys) n.658T>A c.174T>A (p.Asn58Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710678T>A | CA345207516 | AGT | c.146A>T (p.Asn49Ile) n.657A>T c.173A>T (p.Asn58Ile) | |
1 | g.230710678T>C | CA345207517 | AGT | c.146A>G (p.Asn49Ser) n.657A>G c.173A>G (p.Asn58Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710678T>G | CA345207518 | AGT | c.146A>C (p.Asn49Thr) n.657A>C c.173A>C (p.Asn58Thr) | |
1 | g.230710678T= | CA1226658709 | AGT | c.146A= (p.Asn49=) n.657A= c.173A= (p.Asn58=) | |
1 | g.230710679T>A | CA345207519 | AGT | c.145A>T (p.Asn49Tyr) n.656A>T c.172A>T (p.Asn58Tyr) | |
1 | g.230710679T>C | CA345207520 | AGT | c.145A>G (p.Asn49Asp) n.656A>G c.172A>G (p.Asn58Asp) | |
1 | g.230710679T>G | CA345207521 | AGT | c.145A>C (p.Asn49His) n.656A>C c.172A>C (p.Asn58His) | |
1 | g.230710680G>A | CA424036907 | AGT | c.144C>T (p.Ala48=) n.655C>T c.171C>T (p.Ala57=) | |
1 | g.230710680G>C | CA424036908 | AGT | c.144C>G (p.Ala48=) n.655C>G c.171C>G (p.Ala57=) | |
1 | g.230710680G= | CA1145190341 | AGT | c.144C= (p.Ala48=) n.655C= c.171C= (p.Ala57=) | |
1 | g.230710680G>T | CA1448367 | AGT | c.144C>A (p.Ala48=) n.655C>A c.171C>A (p.Ala57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710681G>A | CA345207522 | AGT | c.143C>T (p.Ala48Val) n.654C>T c.170C>T (p.Ala57Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.230710681G>C | CA345207523 | AGT | c.143C>G (p.Ala48Gly) n.654C>G c.170C>G (p.Ala57Gly) | |
1 | g.230710681G= | CA1226658717 | AGT | c.143C= (p.Ala48=) n.654C= c.170C= (p.Ala57=) | |
1 | g.230710681G>T | CA38872281 | AGT | c.143C>A (p.Ala48Asp) n.654C>A c.170C>A (p.Ala57Asp) | dbSNP COSMIC |
1 | g.230710682C>A | CA345207524 | AGT | c.142G>T (p.Ala48Ser) n.653G>T c.169G>T (p.Ala57Ser) | |
1 | g.230710682C>G | CA345207525 | AGT | c.142G>C (p.Ala48Pro) n.653G>C c.169G>C (p.Ala57Pro) | |
1 | g.230710682C>T | CA345207526 | AGT | c.142G>A (p.Ala48Thr) n.653G>A c.169G>A (p.Ala57Thr) | |
1 | g.230710683C>A | CA345207527 | AGT | c.141G>T (p.Lys47Asn) n.652G>T c.168G>T (p.Lys56Asn) | dbSNP |
1 | g.230710683C= | CA1226658724 | AGT | c.141G= (p.Lys47=) n.652G= c.168G= (p.Lys56=) | |
1 | g.230710683C>G | CA345207528 | AGT | c.141G>C (p.Lys47Asn) n.652G>C c.168G>C (p.Lys56Asn) | |
1 | g.230710683C>T | CA1448368 | AGT | c.141G>A (p.Lys47=) n.652G>A c.168G>A (p.Lys56=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710684T>A | CA1448369 | AGT | c.140A>T (p.Lys47Met) n.651A>T c.167A>T (p.Lys56Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710684T>C | CA345207529 | AGT | c.140A>G (p.Lys47Arg) n.651A>G c.167A>G (p.Lys56Arg) | |
1 | g.230710684T>G | CA345207530 | AGT | c.140A>C (p.Lys47Thr) n.651A>C c.167A>C (p.Lys56Thr) | |
1 | g.230710684T= | CA1226658728 | AGT | c.140A= (p.Lys47=) n.651A= c.167A= (p.Lys56=) | |
1 | g.230710685T>A | CA345207533 | AGT | c.139A>T (p.Lys47Ter) n.650A>T c.166A>T (p.Lys56Ter) | |
1 | g.230710685T>C | CA345207532 | AGT | c.139A>G (p.Lys47Glu) n.650A>G c.166A>G (p.Lys56Glu) | dbSNP |
1 | g.230710685T>G | CA345207531 | AGT | c.139A>C (p.Lys47Gln) n.650A>C c.166A>C (p.Lys56Gln) | |
1 | g.230710685T= | CA1226658736 | AGT | c.139A= (p.Lys47=) n.650A= c.166A= (p.Lys56=) | |
1 | g.230710686T>A | CA424036920 | AGT | c.138A>T (p.Ala46=) n.649A>T c.165A>T (p.Ala55=) | |
1 | g.230710686T>C | CA424036921 | AGT | c.138A>G (p.Ala46=) n.649A>G c.165A>G (p.Ala55=) | COSMIC |
1 | g.230710686T>G | CA424036922 | AGT | c.138A>C (p.Ala46=) n.649A>C c.165A>C (p.Ala55=) | |
1 | g.230710687G>A | CA345207536 | AGT | c.137C>T (p.Ala46Val) n.648C>T c.164C>T (p.Ala55Val) | |
1 | g.230710687G>C | CA345207534 | AGT | c.137C>G (p.Ala46Gly) n.648C>G c.164C>G (p.Ala55Gly) | |
1 | g.230710687G>T | CA345207535 | AGT | c.137C>A (p.Ala46Glu) n.648C>A c.164C>A (p.Ala55Glu) | |
1 | g.230710688C>A | CA345207537 | AGT | c.136G>T (p.Ala46Ser) n.647G>T c.163G>T (p.Ala55Ser) | |
1 | g.230710688C>G | CA345207538 | AGT | c.136G>C (p.Ala46Pro) n.647G>C c.163G>C (p.Ala55Pro) | |
1 | g.230710688C>T | CA345207539 | AGT | c.136G>A (p.Ala46Thr) n.647G>A c.163G>A (p.Ala55Thr) | gnomAD v4 |
1 | g.230710689C>A | CA424036926 | AGT | c.135G>T (p.Leu45=) n.646G>T c.162G>T (p.Leu54=) | |
1 | g.230710689C= | CA1226658740 | AGT | c.135G= (p.Leu45=) n.646G= c.162G= (p.Leu54=) | |
1 | g.230710689C>G | CA424036927 | AGT | c.135G>C (p.Leu45=) n.646G>C c.162G>C (p.Leu54=) | |
1 | g.230710689C>T | CA424036928 | AGT | c.135G>A (p.Leu45=) n.646G>A c.162G>A (p.Leu54=) | ClinVar dbSNP |
1 | g.230710690A>C | CA345207540 | AGT | c.134T>G (p.Leu45Arg) n.645T>G c.161T>G (p.Leu54Arg) | |
1 | g.230710690A>G | CA345207541 | AGT | c.134T>C (p.Leu45Pro) n.645T>C c.161T>C (p.Leu54Pro) | |
1 | g.230710690A>T | CA345207542 | AGT | c.134T>A (p.Leu45Gln) n.645T>A c.161T>A (p.Leu54Gln) | |
1 | g.230710691G>A | CA424036933 | AGT | c.133C>T (p.Leu45=) n.644C>T c.160C>T (p.Leu54=) | |
1 | g.230710691G>C | CA345207543 | AGT | c.133C>G (p.Leu45Val) n.644C>G c.160C>G (p.Leu54Val) | |
1 | g.230710691G= | CA1226658745 | AGT | c.133C= (p.Leu45=) n.644C= c.160C= (p.Leu54=) | |
1 | g.230710691G>T | CA345207544 | AGT | c.133C>A (p.Leu45Met) n.644C>A c.160C>A (p.Leu54Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710692C>A | CA345207545 | AGT | c.132G>T (p.Gln44His) n.643G>T c.159G>T (p.Gln53His) | |
1 | g.230710692C>G | CA345207546 | AGT | c.132G>C (p.Gln44His) n.643G>C c.159G>C (p.Gln53His) | |
1 | g.230710692C>T | CA424036936 | AGT | c.132G>A (p.Gln44=) n.643G>A c.159G>A (p.Gln53=) | |
1 | g.230710693T>A | CA345207549 | AGT | c.131A>T (p.Gln44Leu) n.642A>T c.158A>T (p.Gln53Leu) | |
1 | g.230710693T>C | CA345207548 | AGT | c.131A>G (p.Gln44Arg) n.642A>G c.158A>G (p.Gln53Arg) | |
1 | g.230710693T>G | CA345207547 | AGT | c.131A>C (p.Gln44Pro) n.642A>C c.158A>C (p.Gln53Pro) | |
1 | g.230710694G>A | CA38872313 | AGT | c.130C>T (p.Gln44Ter) n.641C>T c.157C>T (p.Gln53Ter) | dbSNP |
1 | g.230710694G>C | CA1448370 | AGT | c.130C>G (p.Gln44Glu) n.641C>G c.157C>G (p.Gln53Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710694G= | CA1139772892 | AGT | c.130C= (p.Gln44=) n.641C= c.157C= (p.Gln53=) | |
1 | g.230710694G>T | CA345207553 | AGT | c.130C>A (p.Gln44Lys) n.641C>A c.157C>A (p.Gln53Lys) | gnomAD v4 |
1 | g.230710695C>A | CA345207554 | AGT | c.129G>T (p.Glu43Asp) n.640G>T c.156G>T (p.Glu52Asp) | |
1 | g.230710695C= | CA1226658756 | AGT | c.129G= (p.Glu43=) n.640G= c.156G= (p.Glu52=) | |
1 | g.230710695C>G | CA345207556 | AGT | c.129G>C (p.Glu43Asp) n.640G>C c.156G>C (p.Glu52Asp) | |
1 | g.230710695C>T | CA424036942 | AGT | c.129G>A (p.Glu43=) n.640G>A c.156G>A (p.Glu52=) | dbSNP |
1 | g.230710696T>A | CA345207558 | AGT | c.128A>T (p.Glu43Val) n.639A>T c.155A>T (p.Glu52Val) | |
1 | g.230710696T>C | CA345207560 | AGT | c.128A>G (p.Glu43Gly) n.639A>G c.155A>G (p.Glu52Gly) | gnomAD v4 |
1 | g.230710696T>G | CA345207561 | AGT | c.128A>C (p.Glu43Ala) n.639A>C c.155A>C (p.Glu52Ala) | |
1 | g.230710697C>A | CA345207562 | AGT | c.127G>T (p.Glu43Ter) n.638G>T c.154G>T (p.Glu52Ter) | |
1 | g.230710697C>G | CA345207565 | AGT | c.127G>C (p.Glu43Gln) n.638G>C c.154G>C (p.Glu52Gln) | |
1 | g.230710697C>T | CA345207566 | AGT | c.127G>A (p.Glu43Lys) n.638G>A c.154G>A (p.Glu52Lys) | gnomAD v4 |
1 | g.230710698A>C | CA345207568 | AGT | c.126T>G (p.Cys42Trp) n.637T>G c.153T>G (p.Cys51Trp) | |
1 | g.230710698A>G | CA424036944 | AGT | c.126T>C (p.Cys42=) n.637T>C c.153T>C (p.Cys51=) | |
1 | g.230710698A>T | CA345207569 | AGT | c.126T>A (p.Cys42Ter) n.637T>A c.153T>A (p.Cys51Ter) | |
1 | g.230710699C>A | CA345207572 | AGT | c.125G>T (p.Cys42Phe) n.636G>T c.152G>T (p.Cys51Phe) | |
1 | g.230710699C= | CA1226658761 | AGT | c.125G= (p.Cys42=) n.636G= c.152G= (p.Cys51=) | |
1 | g.230710699C>G | CA345207573 | AGT | c.125G>C (p.Cys42Ser) n.636G>C c.152G>C (p.Cys51Ser) | dbSNP |
1 | g.230710699C>T | CA345207570 | AGT | c.125G>A (p.Cys42Tyr) n.636G>A c.152G>A (p.Cys51Tyr) | |
1 | g.230710700A= | CA1140725505 | AGT | c.124T= (p.Cys42=) n.635T= c.151T= (p.Cys51=) | |
1 | g.230710700A>C | CA345207575 | AGT | c.124T>G (p.Cys42Gly) n.635T>G c.151T>G (p.Cys51Gly) | |
1 | g.230710700A>G | CA1448371 | AGT | c.124T>C (p.Cys42Arg) n.635T>C c.151T>C (p.Cys51Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710700A>T | CA345207576 | AGT | c.124T>A (p.Cys42Ser) n.635T>A c.151T>A (p.Cys51Ser) | |
1 | g.230710701G>A | CA1448372 | AGT | c.123C>T (p.Thr41=) n.634C>T c.150C>T (p.Thr50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.230710701G>C | CA424036949 | AGT | c.123C>G (p.Thr41=) n.634C>G c.150C>G (p.Thr50=) | |
1 | g.230710701G= | CA1226658771 | AGT | c.123C= (p.Thr41=) n.634C= c.150C= (p.Thr50=) | |
1 | g.230710701G>T | CA424036948 | AGT | c.123C>A (p.Thr41=) n.634C>A c.150C>A (p.Thr50=) | |
1 | g.230710702G>A | CA345207579 | AGT | c.122C>T (p.Thr41Ile) n.633C>T c.149C>T (p.Thr50Ile) | |
1 | g.230710702G>C | CA345207581 | AGT | c.122C>G (p.Thr41Ser) n.633C>G c.149C>G (p.Thr50Ser) | |
1 | g.230710702G>T | CA345207583 | AGT | c.122C>A (p.Thr41Asn) n.633C>A c.149C>A (p.Thr50Asn) | gnomAD v4 |
1 | g.230710703T>A | CA1448373 | AGT | c.121A>T (p.Thr41Ser) n.632A>T c.148A>T (p.Thr50Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710703T>C | CA38872351 | AGT | c.121A>G (p.Thr41Ala) n.632A>G c.148A>G (p.Thr50Ala) | dbSNP |
1 | g.230710703T>G | CA345207585 | AGT | c.121A>C (p.Thr41Pro) n.632A>C c.148A>C (p.Thr50Pro) | |
1 | g.230710703T= | CA1143505377 | AGT | c.121A= (p.Thr41=) n.632A= c.148A= (p.Thr50=) | |
1 | g.230710704A>C | CA345207588 | AGT | c.120T>G (p.Ser40Arg) n.631T>G c.147T>G (p.Ser49Arg) | |
1 | g.230710704A>G | CA424036953 | AGT | c.120T>C (p.Ser40=) n.631T>C c.147T>C (p.Ser49=) | |
1 | g.230710704A>T | CA345207590 | AGT | c.120T>A (p.Ser40Arg) n.631T>A c.147T>A (p.Ser49Arg) | |
1 | g.230710705C>A | CA345207591 | AGT | c.119G>T (p.Ser40Ile) n.630G>T c.146G>T (p.Ser49Ile) | |
1 | g.230710705C= | CA1144166944 | AGT | c.119G= (p.Ser40=) n.630G= c.146G= (p.Ser49=) | |
1 | g.230710705C>G | CA345207593 | AGT | c.119G>C (p.Ser40Thr) n.630G>C c.146G>C (p.Ser49Thr) | |
1 | g.230710705C>T | CA1448374 | AGT | c.119G>A (p.Ser40Asn) n.630G>A c.146G>A (p.Ser49Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710706T>A | CA345207596 | AGT | c.118A>T (p.Ser40Cys) n.629A>T c.145A>T (p.Ser49Cys) | |
1 | g.230710706T>C | CA1448375 | AGT | c.118A>G (p.Ser40Gly) n.629A>G c.145A>G (p.Ser49Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710706T>G | CA345207598 | AGT | c.118A>C (p.Ser40Arg) n.629A>C c.145A>C (p.Ser49Arg) | gnomAD v4 |
1 | g.230710706T= | CA1226658788 | AGT | c.118A= (p.Ser40=) n.629A= c.145A= (p.Ser49=) | |
1 | g.230710707C>A | CA345207600 | AGT | c.117G>T (p.Glu39Asp) n.628G>T c.144G>T (p.Glu48Asp) | |
1 | g.230710707C= | CA1226658793 | AGT | c.117G= (p.Glu39=) n.628G= c.144G= (p.Glu48=) | |
1 | g.230710707C>G | CA345207601 | AGT | c.117G>C (p.Glu39Asp) n.628G>C c.144G>C (p.Glu48Asp) | gnomAD v4 |
1 | g.230710707C>T | CA1448376 | AGT | c.117G>A (p.Glu39=) n.628G>A c.144G>A (p.Glu48=) | dbSNP ExAC gnomAD v2 |
1 | g.230710708T>A | CA345207604 | AGT | c.116A>T (p.Glu39Val) n.627A>T c.143A>T (p.Glu48Val) | |
1 | g.230710708T>C | CA345207606 | AGT | c.116A>G (p.Glu39Gly) n.627A>G c.143A>G (p.Glu48Gly) | |
1 | g.230710708T>G | CA345207607 | AGT | c.116A>C (p.Glu39Ala) n.627A>C c.143A>C (p.Glu48Ala) | gnomAD v4 |
1 | g.230710709C>A | CA345207609 | AGT | c.115G>T (p.Glu39Ter) n.626G>T c.142G>T (p.Glu48Ter) | |
1 | g.230710709C= | CA1226658794 | AGT | c.115G= (p.Glu39=) n.626G= c.142G= (p.Glu48=) | |
1 | g.230710709C>G | CA345207611 | AGT | c.115G>C (p.Glu39Gln) n.626G>C c.142G>C (p.Glu48Gln) | |
1 | g.230710709C>T | CA1448377 | AGT | c.115G>A (p.Glu39Lys) n.626G>A c.142G>A (p.Glu48Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.230710710A>C | CA345207612 | AGT | c.114T>G (p.Asn38Lys) n.625T>G c.141T>G (p.Asn47Lys) | |
1 | g.230710710A>G | CA424036961 | AGT | c.114T>C (p.Asn38=) n.625T>C c.141T>C (p.Asn47=) | dbSNP gnomAD v4 |
1 | g.230710710A>T | CA345207613 | AGT | c.114T>A (p.Asn38Lys) n.625T>A c.141T>A (p.Asn47Lys) | |
1 | g.230710711T>A | CA345207614 | AGT | c.113A>T (p.Asn38Ile) n.624A>T c.140A>T (p.Asn47Ile) | |
1 | g.230710711T>C | CA38872379 | AGT | c.113A>G (p.Asn38Ser) n.624A>G c.140A>G (p.Asn47Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710711T>G | CA345207615 | AGT | c.113A>C (p.Asn38Thr) n.624A>C c.140A>C (p.Asn47Thr) | |
1 | g.230710711T= | CA1226658798 | AGT | c.113A= (p.Asn38=) n.624A= c.140A= (p.Asn47=) | |
1 | g.230710712del | CA2650971418 | AGT | c.113del (p.Asn38MetfsTer?) n.624del c.140del (p.Asn47MetfsTer?) | gnomAD v4 |
1 | g.230710712T>A | CA345207618 | AGT | c.112A>T (p.Asn38Tyr) n.623A>T c.139A>T (p.Asn47Tyr) | |
1 | g.230710712T>C | CA345207619 | AGT | c.112A>G (p.Asn38Asp) n.623A>G c.139A>G (p.Asn47Asp) | |
1 | g.230710712T>G | CA1448378 | AGT | c.112A>C (p.Asn38His) n.623A>C c.139A>C (p.Asn47His) | dbSNP ExAC gnomAD v4 |
1 | g.230710712T= | CA1226658800 | AGT | c.112A= (p.Asn38=) n.623A= c.139A= (p.Asn47=) | |
1 | g.230710713G>A | CA424036965 | AGT | c.111C>T (p.His37=) n.622C>T c.138C>T (p.His46=) | gnomAD v4 |
1 | g.230710713G>C | CA345207621 | AGT | c.111C>G (p.His37Gln) n.622C>G c.138C>G (p.His46Gln) | |
1 | g.230710713G>T | CA345207622 | AGT | c.111C>A (p.His37Gln) n.622C>A c.138C>A (p.His46Gln) | |
1 | g.230710714T>A | CA345207625 | AGT | c.110A>T (p.His37Leu) n.621A>T c.137A>T (p.His46Leu) | |
1 | g.230710714T>C | CA345207626 | AGT | c.110A>G (p.His37Arg) n.621A>G c.137A>G (p.His46Arg) | |
1 | g.230710714T>G | CA345207628 | AGT | c.110A>C (p.His37Pro) n.621A>C c.137A>C (p.His46Pro) | |
1 | g.230710715G>A | CA345207630 | AGT | c.109C>T (p.His37Tyr) n.620C>T c.136C>T (p.His46Tyr) | |
1 | g.230710715G>C | CA345207631 | AGT | c.109C>G (p.His37Asp) n.620C>G c.136C>G (p.His46Asp) | |
1 | g.230710715G>T | CA345207633 | AGT | c.109C>A (p.His37Asn) n.620C>A c.136C>A (p.His46Asn) | |
1 | g.230710716G>A | CA424036968 | AGT | c.108C>T (p.Ile36=) n.619C>T c.135C>T (p.Ile45=) | gnomAD v4 |
1 | g.230710716G>C | CA345207634 | AGT | c.108C>G (p.Ile36Met) n.619C>G c.135C>G (p.Ile45Met) | |
1 | g.230710716G= | CA1226658803 | AGT | c.108C= (p.Ile36=) n.619C= c.135C= (p.Ile45=) | |
1 | g.230710716G>T | CA1448379 | AGT | c.108C>A (p.Ile36=) n.619C>A c.135C>A (p.Ile45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710717A>C | CA345207637 | AGT | c.107T>G (p.Ile36Ser) n.618T>G c.134T>G (p.Ile45Ser) | |
1 | g.230710717A>G | CA345207640 | AGT | c.107T>C (p.Ile36Thr) n.618T>C c.134T>C (p.Ile45Thr) | |
1 | g.230710717A>T | CA345207638 | AGT | c.107T>A (p.Ile36Asn) n.618T>A c.134T>A (p.Ile45Asn) | |
1 | g.230710718T>A | CA345207642 | AGT | c.106A>T (p.Ile36Phe) n.617A>T c.133A>T (p.Ile45Phe) | |
1 | g.230710718T>C | CA345207643 | AGT | c.106A>G (p.Ile36Val) n.617A>G c.133A>G (p.Ile45Val) | |
1 | g.230710718T>G | CA345207645 | AGT | c.106A>C (p.Ile36Leu) n.617A>C c.133A>C (p.Ile45Leu) | |
1 | g.230710719G>A | CA424036973 | AGT | c.105C>T (p.Val35=) n.616C>T c.132C>T (p.Val44=) | |
1 | g.230710719G>C | CA424036974 | AGT | c.105C>G (p.Val35=) n.616C>G c.132C>G (p.Val44=) | |
1 | g.230710719G>T | CA424036975 | AGT | c.105C>A (p.Val35=) n.616C>A c.132C>A (p.Val44=) | ClinVar |
1 | g.230710720A>C | CA345207647 | AGT | c.104T>G (p.Val35Gly) n.615T>G c.131T>G (p.Val44Gly) | |
1 | g.230710720A>G | CA345207649 | AGT | c.104T>C (p.Val35Ala) n.615T>C c.131T>C (p.Val44Ala) | |
1 | g.230710720A>T | CA345207650 | AGT | c.104T>A (p.Val35Asp) n.615T>A c.131T>A (p.Val44Asp) | |
1 | g.230710721C>A | CA38872393 | AGT | c.103G>T (p.Val35Phe) n.614G>T c.130G>T (p.Val44Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710721C= | CA1142137020 | AGT | c.103G= (p.Val35=) n.614G= c.130G= (p.Val44=) | |
1 | g.230710721C>G | CA345207654 | AGT | c.103G>C (p.Val35Leu) n.614G>C c.130G>C (p.Val44Leu) | dbSNP |
1 | g.230710721C>T | CA1448380 | AGT | c.103G>A (p.Val35Ile) n.614G>A c.130G>A (p.Val44Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710722G>A | CA38872403 | AGT | c.102C>T (p.Leu34=) n.613C>T c.129C>T (p.Leu43=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710722G>C | CA424036980 | AGT | c.102C>G (p.Leu34=) n.613C>G c.129C>G (p.Leu43=) | |
1 | g.230710722G= | CA1143723358 | AGT | c.102C= (p.Leu34=) n.613C= c.129C= (p.Leu43=) | |
1 | g.230710722G>T | CA424036981 | AGT | c.102C>A (p.Leu34=) n.613C>A c.129C>A (p.Leu43=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710723A= | CA1226658817 | AGT | c.101T= (p.Leu34=) n.612T= c.128T= (p.Leu43=) | |
1 | g.230710723A>C | CA345207659 | AGT | c.101T>G (p.Leu34Arg) n.612T>G c.128T>G (p.Leu43Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710723A>G | CA345207660 | AGT | c.101T>C (p.Leu34Pro) n.612T>C c.128T>C (p.Leu43Pro) | |
1 | g.230710723A>T | CA345207657 | AGT | c.101T>A (p.Leu34His) n.612T>A c.128T>A (p.Leu43His) | |
1 | g.230710724G>A | CA1448381 | AGT | c.100C>T (p.Leu34Phe) n.611C>T c.127C>T (p.Leu43Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710724G>C | CA345207663 | AGT | c.100C>G (p.Leu34Val) n.611C>G c.127C>G (p.Leu43Val) | |
1 | g.230710724G= | CA1140611018 | AGT | c.100C= (p.Leu34=) n.611C= c.127C= (p.Leu43=) | |
1 | g.230710724G>T | CA345207665 | AGT | c.100C>A (p.Leu34Ile) n.611C>A c.127C>A (p.Leu43Ile) | |
1 | g.230710725G>A | CA1448382 | AGT | c.99C>T (p.His33=) n.610C>T c.126C>T (p.His42=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710725G>C | CA1448383 | AGT | c.99C>G (p.His33Gln) n.610C>G c.126C>G (p.His42Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710725G= | CA1226658824 | AGT | c.99C= (p.His33=) n.610C= c.126C= (p.His42=) | |
1 | g.230710725G>T | CA345207668 | AGT | c.99C>A (p.His33Gln) n.610C>A c.126C>A (p.His42Gln) | |
1 | g.230710726T>A | CA345207671 | AGT | c.98A>T (p.His33Leu) n.609A>T c.125A>T (p.His42Leu) | |
1 | g.230710726T>C | CA345207672 | AGT | c.98A>G (p.His33Arg) n.609A>G c.125A>G (p.His42Arg) | |
1 | g.230710726T>G | CA345207673 | AGT | c.98A>C (p.His33Pro) n.609A>C c.125A>C (p.His42Pro) | |
1 | g.230710727G>A | CA345207674 | AGT | c.97C>T (p.His33Tyr) n.608C>T c.124C>T (p.His42Tyr) | |
1 | g.230710727G>C | CA345207676 | AGT | c.97C>G (p.His33Asp) n.608C>G c.124C>G (p.His42Asp) | |
1 | g.230710727G>T | CA345207678 | AGT | c.97C>A (p.His33Asn) n.608C>A c.124C>A (p.His42Asn) | |
1 | g.230710728G>A | CA424036990 | AGT | c.96C>T (p.Phe32=) n.607C>T c.123C>T (p.Phe41=) | |
1 | g.230710728G>C | CA345207679 | AGT | c.96C>G (p.Phe32Leu) n.607C>G c.123C>G (p.Phe41Leu) | |
1 | g.230710728G>T | CA345207681 | AGT | c.96C>A (p.Phe32Leu) n.607C>A c.123C>A (p.Phe41Leu) | |
1 | g.230710729A>C | CA345207686 | AGT | c.95T>G (p.Phe32Cys) n.606T>G c.122T>G (p.Phe41Cys) | |
1 | g.230710729A>G | CA345207685 | AGT | c.95T>C (p.Phe32Ser) n.606T>C c.122T>C (p.Phe41Ser) | gnomAD v4 |
1 | g.230710729A>T | CA345207683 | AGT | c.95T>A (p.Phe32Tyr) n.606T>A c.122T>A (p.Phe41Tyr) | |
1 | g.230710730A>C | CA345207688 | AGT | c.94T>G (p.Phe32Val) n.605T>G c.121T>G (p.Phe41Val) | |
1 | g.230710730A>G | CA345207690 | AGT | c.94T>C (p.Phe32Leu) n.605T>C c.121T>C (p.Phe41Leu) | gnomAD v4 |
1 | g.230710730A>T | CA345207692 | AGT | c.94T>A (p.Phe32Ile) n.605T>A c.121T>A (p.Phe41Ile) | |
1 | g.230710731G>A | CA424036993 | AGT | c.93C>T (p.Pro31=) n.604C>T c.120C>T (p.Pro40=) | gnomAD v4 |
1 | g.230710731G>C | CA424036994 | AGT | c.93C>G (p.Pro31=) n.604C>G c.120C>G (p.Pro40=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710731G= | CA1226658828 | AGT | c.93C= (p.Pro31=) n.604C= c.120C= (p.Pro40=) | |
1 | g.230710731G>T | CA424036995 | AGT | c.93C>A (p.Pro31=) n.604C>A c.120C>A (p.Pro40=) | |
1 | g.230710732G>A | CA1448384 | AGT | c.92C>T (p.Pro31Leu) n.603C>T c.119C>T (p.Pro40Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710732G>C | CA345207694 | AGT | c.92C>G (p.Pro31Arg) n.603C>G c.119C>G (p.Pro40Arg) | |
1 | g.230710732G= | CA1148399829 | AGT | c.92C= (p.Pro31=) n.603C= c.119C= (p.Pro40=) | |
1 | g.230710732G>T | CA345207696 | AGT | c.92C>A (p.Pro31His) n.603C>A c.119C>A (p.Pro40His) | gnomAD v4 |
1 | g.230710733G>A | CA345207698 | AGT | c.91C>T (p.Pro31Ser) n.602C>T c.118C>T (p.Pro40Ser) | |
1 | g.230710733G>C | CA345207700 | AGT | c.91C>G (p.Pro31Ala) n.602C>G c.118C>G (p.Pro40Ala) | |
1 | g.230710733G= | CA1226658839 | AGT | c.91C= (p.Pro31=) n.602C= c.118C= (p.Pro40=) | |
1 | g.230710733G>T | CA38872442 | AGT | c.91C>A (p.Pro31Thr) n.602C>A c.118C>A (p.Pro40Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710734G>A | CA1448385 | AGT | c.90C>T (p.His30=) n.601C>T c.117C>T (p.His39=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710734G>C | CA345207703 | AGT | c.90C>G (p.His30Gln) n.601C>G c.117C>G (p.His39Gln) | |
1 | g.230710734G= | CA1144110391 | AGT | c.90C= (p.His30=) n.601C= c.117C= (p.His39=) | |
1 | g.230710734G>T | CA345207704 | AGT | c.90C>A (p.His30Gln) n.601C>A c.117C>A (p.His39Gln) | |
1 | g.230710735T>A | CA345207708 | AGT | c.89A>T (p.His30Leu) n.600A>T c.116A>T (p.His39Leu) | |
1 | g.230710735T>C | CA38872445 | AGT | c.89A>G (p.His30Arg) n.600A>G c.116A>G (p.His39Arg) | dbSNP gnomAD v4 |
1 | g.230710735T>G | CA345207706 | AGT | c.89A>C (p.His30Pro) n.600A>C c.116A>C (p.His39Pro) | dbSNP |
1 | g.230710735T= | CA1145147796 | AGT | c.89A= (p.His30=) n.600A= c.116A= (p.His39=) | |
1 | g.230710736G>A | CA345207711 | AGT | c.88C>T (p.His30Tyr) n.599C>T c.115C>T (p.His39Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710736G>C | CA345207712 | AGT | c.88C>G (p.His30Asp) n.599C>G c.115C>G (p.His39Asp) | |
1 | g.230710736G= | CA1226658845 | AGT | c.88C= (p.His30=) n.599C= c.115C= (p.His39=) | |
1 | g.230710736G>T | CA345207714 | AGT | c.88C>A (p.His30Asn) n.599C>A c.115C>A (p.His39Asn) | |
1 | g.230710737T>A | CA424037003 | AGT | c.87A>T (p.Ile29=) n.598A>T c.114A>T (p.Ile38=) | |
1 | g.230710737T>C | CA345207716 | AGT | c.87A>G (p.Ile29Met) n.598A>G c.114A>G (p.Ile38Met) | |
1 | g.230710737T>G | CA424037004 | AGT | c.87A>C (p.Ile29=) n.598A>C c.114A>C (p.Ile38=) | gnomAD v4 |
1 | g.230710738A>C | CA345207718 | AGT | c.86T>G (p.Ile29Arg) n.597T>G c.113T>G (p.Ile38Arg) | |
1 | g.230710738A>G | CA345207720 | AGT | c.86T>C (p.Ile29Thr) n.597T>C c.113T>C (p.Ile38Thr) | |
1 | g.230710738A>T | CA345207722 | AGT | c.86T>A (p.Ile29Lys) n.597T>A c.113T>A (p.Ile38Lys) | COSMIC |
1 | g.230710739T>A | CA345207723 | AGT | c.85A>T (p.Ile29Leu) n.596A>T c.112A>T (p.Ile38Leu) | |
1 | g.230710739T>C | CA345207725 | AGT | c.85A>G (p.Ile29Val) n.596A>G c.112A>G (p.Ile38Val) | gnomAD v4 |
1 | g.230710739T>G | CA38872450 | AGT | c.85A>C (p.Ile29Leu) n.596A>C c.112A>C (p.Ile38Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710739T= | CA1226658851 | AGT | c.85A= (p.Ile29=) n.596A= c.112A= (p.Ile38=) | |
1 | g.230710739_230710740delinsTG | CA1226658850 | AGT | c.84_85delinsCA (p.Tyr28=) n.595_596delinsCA c.111_112delinsCA (p.Tyr37=) | |
1 | g.230710740del | CA1013240076 | AGT | c.84del (p.Tyr28Ter) n.595del c.111del (p.Tyr37Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710740G>A | CA424037010 | AGT | c.84C>T (p.Tyr28=) n.595C>T c.111C>T (p.Tyr37=) | gnomAD v4 COSMIC |
1 | g.230710740G>C | CA345207727 | AGT | c.84C>G (p.Tyr28Ter) n.595C>G c.111C>G (p.Tyr37Ter) | |
1 | g.230710740G>T | CA345207728 | AGT | c.84C>A (p.Tyr28Ter) n.595C>A c.111C>A (p.Tyr37Ter) | |
1 | g.230710741T>A | CA345207733 | AGT | c.83A>T (p.Tyr28Phe) n.594A>T c.110A>T (p.Tyr37Phe) | |
1 | g.230710741T>C | CA345207734 | AGT | c.83A>G (p.Tyr28Cys) n.594A>G c.110A>G (p.Tyr37Cys) | |
1 | g.230710741T>G | CA345207731 | AGT | c.83A>C (p.Tyr28Ser) n.594A>C c.110A>C (p.Tyr37Ser) | |
1 | g.230710742A>C | CA345207736 | AGT | c.82T>G (p.Tyr28Asp) n.593T>G c.109T>G (p.Tyr37Asp) | |
1 | g.230710742A>G | CA345207738 | AGT | c.82T>C (p.Tyr28His) n.593T>C c.109T>C (p.Tyr37His) | |
1 | g.230710742A>T | CA345207740 | AGT | c.82T>A (p.Tyr28Asn) n.593T>A c.109T>A (p.Tyr37Asn) | gnomAD v4 |