14 | g.74259530C>A | CA2625651022 | VSX2 | c.580-72C>A (n.580-72C>A)
| gnomAD v4 |
14 | g.74259531C>A | CA2625651023 | VSX2 | c.580-71C>A (n.580-71C>A)
| gnomAD v4 |
14 | g.74259531C= | CA2146964423 | VSX2 | c.580-71C= (n.580-71C=)
| |
14 | g.74259531C>T | CA708517459 | VSX2 | c.580-71C>T (n.580-71C>T)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259532T>C | CA964715378 | VSX2 | c.580-70T>C (n.580-70T>C)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259532T= | CA2146964424 | VSX2 | c.580-70T= (n.580-70T=)
| |
14 | g.74259533A>G | CA2839888140 | VSX2 | c.580-69A>G (n.580-69A>G)
| |
14 | g.74259534C>A | CA2625651024 | VSX2 | c.580-68C>A (n.580-68C>A)
| gnomAD v4 |
14 | g.74259534C>G | CA2575575840 | VSX2 | c.580-68C>G (n.580-68C>G)
| |
14 | g.74259534C>T | CA2625651025 | VSX2 | c.580-68C>T (n.580-68C>T)
| gnomAD v4 |
14 | g.74259537G>A | CA708517461 | VSX2 | c.580-65G>A (n.580-65G>A)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259537G>C | CA2575575841 | VSX2 | c.580-65G>C (n.580-65G>C)
| gnomAD v4 |
14 | g.74259537G= | CA2146964425 | VSX2 | c.580-65G= (n.580-65G=)
| |
14 | g.74259537G>T | CA2625651026 | VSX2 | c.580-65G>T (n.580-65G>T)
| gnomAD v4 |
14 | g.74259540del | CA2625651027 | VSX2 | c.580-62del (n.580-62del)
| gnomAD v4 |
14 | g.74259538G>A | CA2625651028 | VSX2 | c.580-64G>A (n.580-64G>A)
| gnomAD v4 |
14 | g.74259538G>T | CA2838704161 | VSX2 | c.580-64G>T (n.580-64G>T)
| |
14 | g.74259540G>T | CA2625651029 | VSX2 | c.580-62G>T (n.580-62G>T)
| gnomAD v4 |
14 | g.74259542_74259543insCCCCTTGT | CA2625651030 | VSX2 | c.580-60_580-59insCCCCTTGT (n.580-60_580-59insCCCCTTGT)
| gnomAD v4 |
14 | g.74259543A>G | CA2840730246 | VSX2 | c.580-59A>G (n.580-59A>G)
| |
14 | g.74259544G>T | CA2840730247 | VSX2 | c.580-58G>T (n.580-58G>T)
| |
14 | g.74259546G>A | CA2571555802 | VSX2 | c.580-56G>A (n.580-56G>A)
| |
14 | g.74259547C>T | CA2625651031 | VSX2 | c.580-55C>T (n.580-55C>T)
| gnomAD v4 |
14 | g.74259548C>T | CA2838538726 | VSX2 | c.580-54C>T (n.580-54C>T)
| |
14 | g.74259549T>C | CA708517462 | VSX2 | c.580-53T>C (n.580-53T>C)
| dbSNP gnomAD v4 |
14 | g.74259549T= | CA2146964426 | VSX2 | c.580-53T= (n.580-53T=)
| |
14 | g.74259550T>C | CA263556345 | VSX2 | c.580-52T>C (n.580-52T>C)
| dbSNP |
14 | g.74259550T>G | CA2625651032 | VSX2 | c.580-52T>G (n.580-52T>G)
| gnomAD v4 |
14 | g.74259550T= | CA2146964427 | VSX2 | c.580-52T= (n.580-52T=)
| |
14 | g.74259551G>A | CA615033748 | VSX2 | c.580-51G>A (n.580-51G>A)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.74259551G= | CA2146964428 | VSX2 | c.580-51G= (n.580-51G=)
| |
14 | g.74259551G>T | CA2838704158 | VSX2 | c.580-51G>T (n.580-51G>T)
| |
14 | g.74259553dup | CA2840730248 | VSX2 | c.580-49dup (n.580-49dup)
| |
14 | g.74259553G>A | CA2146964430 | VSX2 | c.580-49G>A (n.580-49G>A)
| dbSNP |
14 | g.74259553G= | CA2146964429 | VSX2 | c.580-49G= (n.580-49G=)
| |
14 | g.74259554C>A | CA2146964432 | VSX2 | c.580-48C>A (n.580-48C>A)
| dbSNP |
14 | g.74259554C= | CA2146964431 | VSX2 | c.580-48C= (n.580-48C=)
| |
14 | g.74259554C>T | CA7266379 | VSX2 | c.580-48C>T (n.580-48C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259556dup | CA2730029659 | VSX2 | c.580-46dup (n.580-46dup)
| dbSNP |
14 | g.74259556del | CA2802149049 | VSX2 | c.580-46del (n.580-46del)
| |
14 | g.74259556C>A | CA7266381 | VSX2 | c.580-46C>A (n.580-46C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259556C= | CA2146964433 | VSX2 | c.580-46C= (n.580-46C=)
| |
14 | g.74259556C>T | CA7266380 | VSX2 | c.580-46C>T (n.580-46C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259557A= | CA2146964434 | VSX2 | c.580-45A= (n.580-45A=)
| |
14 | g.74259557A>C | CA7266382 | VSX2 | c.580-45A>C (n.580-45A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259557A>T | CA2840730249 | VSX2 | c.580-45A>T (n.580-45A>T)
| |
14 | g.74259557_74259558delinsAG | CA2146964435 | VSX2 | c.580-45_580-44delinsAG (n.580-45_580-44delinsAG)
| |
14 | g.74259557_74259558delinsCA | CA263556373 | VSX2 | c.580-45_580-44delinsCA (n.580-45_580-44delinsCA)
| dbSNP |
14 | g.74259558del | CA708517471 | VSX2 | c.580-44del (n.580-44del)
| dbSNP |
14 | g.74259558G>A | CA7266383 | VSX2 | c.580-44G>A (n.580-44G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259558G= | CA2146964436 | VSX2 | c.580-44G= (n.580-44G=)
| |
14 | g.74259559C>A | CA2575575842 | VSX2 | c.580-43C>A (n.580-43C>A)
| gnomAD v4 |
14 | g.74259559C>T | CA2840730250 | VSX2 | c.580-43C>T (n.580-43C>T)
| |
14 | g.74259560A= | CA2146964437 | VSX2 | c.580-42A= (n.580-42A=)
| |
14 | g.74259560A>C | CA2146964438 | VSX2 | c.580-42A>C (n.580-42A>C)
| dbSNP |
14 | g.74259560A>G | CA964715383 | VSX2 | c.580-42A>G (n.580-42A>G)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259561C= | CA2146964439 | VSX2 | c.580-41C= (n.580-41C=)
| |
14 | g.74259561C>T | CA615033749 | VSX2 | c.580-41C>T (n.580-41C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259562C>A | CA2568287800 | VSX2 | c.580-40C>A (n.580-40C>A)
| |
14 | g.74259562C>T | CA2625651033 | VSX2 | c.580-40C>T (n.580-40C>T)
| gnomAD v4 |
14 | g.74259566C>A | CA2840730251 | VSX2 | c.580-36C>A (n.580-36C>A)
| |
14 | g.74259566C= | CA2146964440 | VSX2 | c.580-36C= (n.580-36C=)
| |
14 | g.74259566C>T | CA263556391 | VSX2 | c.580-36C>T (n.580-36C>T)
| dbSNP |
14 | g.74259568G>T | CA2508668464 | VSX2 | c.580-34G>T (n.580-34G>T)
| |
14 | g.74259572_74259575del | CA2625651034 | VSX2 | c.580-30_580-27del (n.580-30_580-27del)
| gnomAD v4 |
14 | g.74259571C= | CA2146964441 | VSX2 | c.580-31C= (n.580-31C=)
| |
14 | g.74259571C>G | CA7266384 | VSX2 | c.580-31C>G (n.580-31C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259572A>G | CA2625651035 | VSX2 | c.580-30A>G (n.580-30A>G)
| gnomAD v4 |
14 | g.74259573A>G | CA2625651036 | VSX2 | c.580-29A>G (n.580-29A>G)
| gnomAD v4 |
14 | g.74259574G>T | CA2840730252 | VSX2 | c.580-28G>T (n.580-28G>T)
| |
14 | g.74259575C>A | CA615033750 | VSX2 | c.580-27C>A (n.580-27C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259575C= | CA2146964442 | VSX2 | c.580-27C= (n.580-27C=)
| |
14 | g.74259575C>G | CA7266385 | VSX2 | c.580-27C>G (n.580-27C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259576C>G | CA2548945435 | VSX2 | c.580-26C>G (n.580-26C>G)
| gnomAD v4 |
14 | g.74259577T>C | CA2575575843 | VSX2 | c.580-25T>C (n.580-25T>C)
| |
14 | g.74259578C>T | CA2625651037 | VSX2 | c.580-24C>T (n.580-24C>T)
| gnomAD v4 |
14 | g.74259580G>A | CA2625651038 | VSX2 | c.580-22G>A (n.580-22G>A)
| gnomAD v4 |
14 | g.74259580G>T | CA2840730253 | VSX2 | c.580-22G>T (n.580-22G>T)
| |
14 | g.74259581A= | CA2146964443 | VSX2 | c.580-21A= (n.580-21A=)
| |
14 | g.74259581A>G | CA7266386 | VSX2 | c.580-21A>G (n.580-21A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259582C>A | CA2575575844 | VSX2 | c.580-20C>A (n.580-20C>A)
| gnomAD v4 |
14 | g.74259582C>T | CA2625651039 | VSX2 | c.580-20C>T (n.580-20C>T)
| gnomAD v4 |
14 | g.74259584T>G | CA964715391 | VSX2 | c.580-18T>G (n.580-18T>G)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259584T= | CA2146964444 | VSX2 | c.580-18T= (n.580-18T=)
| |
14 | g.74259587del | CA2840730254 | VSX2 | c.580-15del (n.580-15del)
| |
14 | g.74259587T>C | CA615033751 | VSX2 | c.580-15T>C (n.580-15T>C)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.74259587T= | CA2146964445 | VSX2 | c.580-15T= (n.580-15T=)
| |
14 | g.74259589T>C | CA964715392 | VSX2 | c.580-13T>C (n.580-13T>C)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259589T= | CA2146964446 | VSX2 | c.580-13T= (n.580-13T=)
| |
14 | g.74259590G>A | CA2697551982 | VSX2 | c.580-12G>A (n.580-12G>A)
| ClinVar |
14 | g.74259590G>C | CA7266388 | VSX2 | c.580-12G>C (n.580-12G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259590G= | CA2146964447 | VSX2 | c.580-12G= (n.580-12G=)
| |
14 | g.74259590G>T | CA7266387 | VSX2 | c.580-12G>T (n.580-12G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259592G>A | CA2625651040 | VSX2 | c.580-10G>A (n.580-10G>A)
| gnomAD v4 |
14 | g.74259594A= | CA2146964448 | VSX2 | c.580-8A= (n.580-8A=)
| |
14 | g.74259594A>C | CA2146964449 | VSX2 | c.580-8A>C (n.580-8A>C)
| dbSNP |
14 | g.74259594A>G | CA2146964450 | VSX2 | c.580-8A>G (n.580-8A>G)
| ClinVar dbSNP |
14 | g.74259595C>T | CA2499222720 | VSX2 | c.580-7C>T (n.580-7C>T)
| ClinVar dbSNP |
14 | g.74259596C>A | CA7266389 | VSX2 | c.580-6C>A (n.580-6C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259596C= | CA2146964451 | VSX2 | c.580-6C= (n.580-6C=)
| |
14 | g.74259598G>A | CA2625651041 | VSX2 | c.580-4G>A (n.580-4G>A)
| gnomAD v4 |
14 | g.74259599C>A | CA615033752 | VSX2 | c.580-3C>A (n.580-3C>A)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.74259599C= | CA2146964452 | VSX2 | c.580-3C= (n.580-3C=)
| |
14 | g.74259600A>C | CA390368958 | VSX2 | c.580-2A>C (n.580-2A>C)
| ClinVar |
14 | g.74259600A>G | CA390368961 | VSX2 | c.580-2A>G (n.580-2A>G)
| |
14 | g.74259600A>T | CA390368963 | VSX2 | c.580-2A>T (n.580-2A>T)
| |
14 | g.74259601G>A | CA390368972 | VSX2 | c.580-1G>A (n.580-1G>A)
| |
14 | g.74259601G>C | CA390368970 | VSX2 | c.580-1G>C (n.580-1G>C)
| |
14 | g.74259601G>T | CA390368968 | VSX2 | c.580-1G>T (n.580-1G>T)
| |
14 | g.74259602G>A | CA7266390 | VSX2 | c.580G>A (p.Val194Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259602G>C | CA390368976 | VSX2 | c.580G>C (p.Val194Leu)
| |
14 | g.74259602G= | CA2146964453 | VSX2 | c.580G= (p.Val194=)
| |
14 | g.74259602G>T | CA390368978 | VSX2 | c.580G>T (p.Val194Phe)
| |
14 | g.74259603T>A | CA390368983 | VSX2 | c.581T>A (p.Val194Asp)
| |
14 | g.74259603T>C | CA390368986 | VSX2 | c.581T>C (p.Val194Ala)
| |
14 | g.74259603T>G | CA390368988 | VSX2 | c.581T>G (p.Val194Gly)
| |
14 | g.74259604C>A | CA487155793 | VSX2 | c.582C>A (p.Val194=)
| |
14 | g.74259604C= | CA2146964454 | VSX2 | c.582C= (p.Val194=)
| |
14 | g.74259604C>G | CA487155794 | VSX2 | c.582C>G (p.Val194=)
| |
14 | g.74259604C>T | CA487155795 | VSX2 | c.582C>T (p.Val194=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259605T>A | CA390368992 | VSX2 | c.583T>A (p.Trp195Arg)
| |
14 | g.74259605T>C | CA390368994 | VSX2 | c.583T>C (p.Trp195Arg)
| |
14 | g.74259605T>G | CA390368996 | VSX2 | c.583T>G (p.Trp195Gly)
| |
14 | g.74259606G>A | CA7266391 | VSX2 | c.584G>A (p.Trp195Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259606G>C | CA390369001 | VSX2 | c.584G>C (p.Trp195Ser)
| |
14 | g.74259606G= | CA2146964455 | VSX2 | c.584G= (p.Trp195=)
| |
14 | g.74259606G>T | CA390369002 | VSX2 | c.584G>T (p.Trp195Leu)
| |
14 | g.74259607G>A | CA390369011 | VSX2 | c.585G>A (p.Trp195Ter)
| |
14 | g.74259607G>C | CA390369008 | VSX2 | c.585G>C (p.Trp195Cys)
| |
14 | g.74259607G>T | CA390369006 | VSX2 | c.585G>T (p.Trp195Cys)
| |
14 | g.74259608T>A | CA390369014 | VSX2 | c.586T>A (p.Phe196Ile)
| |
14 | g.74259608T>C | CA390369016 | VSX2 | c.586T>C (p.Phe196Leu)
| |
14 | g.74259608T>G | CA390369018 | VSX2 | c.586T>G (p.Phe196Val)
| |
14 | g.74259609T>A | CA390369021 | VSX2 | c.587T>A (p.Phe196Tyr)
| |
14 | g.74259609T>C | CA390369023 | VSX2 | c.587T>C (p.Phe196Ser)
| |
14 | g.74259609T>G | CA390369026 | VSX2 | c.587T>G (p.Phe196Cys)
| |
14 | g.74259610C>A | CA390369030 | VSX2 | c.588C>A (p.Phe196Leu)
| |
14 | g.74259610C>G | CA390369033 | VSX2 | c.588C>G (p.Phe196Leu)
| |
14 | g.74259610C>T | CA487155797 | VSX2 | c.588C>T (p.Phe196=)
| |
14 | g.74259611C>A | CA390369038 | VSX2 | c.589C>A (p.Gln197Lys)
| |
14 | g.74259611C>G | CA390369040 | VSX2 | c.589C>G (p.Gln197Glu)
| |
14 | g.74259611C>T | CA390369042 | VSX2 | c.589C>T (p.Gln197Ter)
| ClinVar dbSNP |
14 | g.74259612A>C | CA390369047 | VSX2 | c.590A>C (p.Gln197Pro)
| |
14 | g.74259612A>G | CA390369049 | VSX2 | c.590A>G (p.Gln197Arg)
| |
14 | g.74259612A>T | CA390369051 | VSX2 | c.590A>T (p.Gln197Leu)
| |
14 | g.74259613G>A | CA487155809 | VSX2 | c.591G>A (p.Gln197=)
| |
14 | g.74259613G>C | CA390369054 | VSX2 | c.591G>C (p.Gln197His)
| |
14 | g.74259613G>T | CA390369056 | VSX2 | c.591G>T (p.Gln197His)
| |
14 | g.74259613_74259618dup | CA2625651042 | VSX2 | c.591_596dup (p.Arg199_Arg200insAsnArg)
| gnomAD v4 |
14 | g.74259614A>C | CA390369060 | VSX2 | c.592A>C (p.Asn198His)
| |
14 | g.74259614A>G | CA390369062 | VSX2 | c.592A>G (p.Asn198Asp)
| |
14 | g.74259614A>T | CA390369065 | VSX2 | c.592A>T (p.Asn198Tyr)
| |
14 | g.74259615A= | CA2146964456 | VSX2 | c.593A= (p.Asn198=)
| |
14 | g.74259615A>C | CA390369068 | VSX2 | c.593A>C (p.Asn198Thr)
| dbSNP |
14 | g.74259615A>G | CA390369071 | VSX2 | c.593A>G (p.Asn198Ser)
| |
14 | g.74259615A>T | CA390369073 | VSX2 | c.593A>T (p.Asn198Ile)
| gnomAD v4 |
14 | g.74259616C>A | CA390369077 | VSX2 | c.594C>A (p.Asn198Lys)
| |
14 | g.74259616C>G | CA390369079 | VSX2 | c.594C>G (p.Asn198Lys)
| |
14 | g.74259616C>T | CA487155810 | VSX2 | c.594C>T (p.Asn198=)
| gnomAD v4 |
14 | g.74259617C>A | CA390369081 | VSX2 | c.595C>A (p.Arg199Ser)
| |
14 | g.74259617C= | CA2146964457 | VSX2 | c.595C= (p.Arg199=)
| |
14 | g.74259617C>G | CA390369084 | VSX2 | c.595C>G (p.Arg199Gly)
| |
14 | g.74259617C>T | CA7266392 | VSX2 | c.595C>T (p.Arg199Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.74259618G>A | CA7266393 | VSX2 | c.596G>A (p.Arg199His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259618G>C | CA390369091 | VSX2 | c.596G>C (p.Arg199Pro)
| |
14 | g.74259618G= | CA2146964458 | VSX2 | c.596G= (p.Arg199=)
| |
14 | g.74259618G>T | CA390369090 | VSX2 | c.596G>T (p.Arg199Leu)
| gnomAD v4 |
14 | g.74259619T>A | CA487155814 | VSX2 | c.597T>A (p.Arg199=)
| |
14 | g.74259619T>C | CA487155816 | VSX2 | c.597T>C (p.Arg199=)
| |
14 | g.74259619T>G | CA487155815 | VSX2 | c.597T>G (p.Arg199=)
| |
14 | g.74259620C>A | CA487155817 | VSX2 | c.598C>A (p.Arg200=)
| ClinVar dbSNP |
14 | g.74259620C= | CA2146964459 | VSX2 | c.598C= (p.Arg200=)
| |
14 | g.74259620C>G | CA7266395 | VSX2 | c.598C>G (p.Arg200Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259620C>T | CA7266394 | VSX2 | c.598C>T (p.Arg200Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259621G>A | CA124412 | VSX2 | c.599G>A (p.Arg200Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259621G>C | CA124413 | VSX2 | c.599G>C (p.Arg200Pro)
| ClinVar dbSNP gnomAD v4 |
14 | g.74259621G= | CA2146964460 | VSX2 | c.599G= (p.Arg200=)
| |
14 | g.74259621G>T | CA390369101 | VSX2 | c.599G>T (p.Arg200Leu)
| |
14 | g.74259622A= | CA2146964461 | VSX2 | c.600A= (p.Arg200=)
| |
14 | g.74259622A>C | CA7266396 | VSX2 | c.600A>C (p.Arg200=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259622A>G | CA487155818 | VSX2 | c.600A>G (p.Arg200=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259622A>T | CA487155819 | VSX2 | c.600A>T (p.Arg200=)
| |
14 | g.74259623G>A | CA390369105 | VSX2 | c.601G>A (p.Ala201Thr)
| |
14 | g.74259623G>C | CA390369108 | VSX2 | c.601G>C (p.Ala201Pro)
| |
14 | g.74259623G>T | CA390369110 | VSX2 | c.601G>T (p.Ala201Ser)
| |
14 | g.74259624C>A | CA390369114 | VSX2 | c.602C>A (p.Ala201Asp)
| |
14 | g.74259624C>G | CA390369116 | VSX2 | c.602C>G (p.Ala201Gly)
| |
14 | g.74259624C>T | CA390369119 | VSX2 | c.602C>T (p.Ala201Val)
| |
14 | g.74259625C>A | CA487155820 | VSX2 | c.603C>A (p.Ala201=)
| |
14 | g.74259625C= | CA2146964462 | VSX2 | c.603C= (p.Ala201=)
| |
14 | g.74259625C>G | CA487155821 | VSX2 | c.603C>G (p.Ala201=)
| |
14 | g.74259625C>T | CA487155822 | VSX2 | c.603C>T (p.Ala201=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259626A>C | CA390369122 | VSX2 | c.604A>C (p.Lys202Gln)
| |
14 | g.74259626A>G | CA390369124 | VSX2 | c.604A>G (p.Lys202Glu)
| |
14 | g.74259626A>T | CA390369127 | VSX2 | c.604A>T (p.Lys202Ter)
| |
14 | g.74259627A>C | CA390369137 | VSX2 | c.605A>C (p.Lys202Thr)
| |
14 | g.74259627A>G | CA390369131 | VSX2 | c.605A>G (p.Lys202Arg)
| gnomAD v4 |
14 | g.74259627A>T | CA390369134 | VSX2 | c.605A>T (p.Lys202Met)
| |
14 | g.74259628G>A | CA7266397 | VSX2 | c.606G>A (p.Lys202=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259628G>C | CA390369141 | VSX2 | c.606G>C (p.Lys202Asn)
| gnomAD v4 |
14 | g.74259628G= | CA2146964463 | VSX2 | c.606G= (p.Lys202=)
| |
14 | g.74259628G>T | CA390369143 | VSX2 | c.606G>T (p.Lys202Asn)
| |
14 | g.74259629T>A | CA390369147 | VSX2 | c.607T>A (p.Trp203Arg)
| |
14 | g.74259629T>C | CA390369149 | VSX2 | c.607T>C (p.Trp203Arg)
| |
14 | g.74259629T>G | CA390369152 | VSX2 | c.607T>G (p.Trp203Gly)
| |
14 | g.74259630G>A | CA390369155 | VSX2 | c.608G>A (p.Trp203Ter)
| ClinVar dbSNP |
14 | g.74259630G>C | CA390369158 | VSX2 | c.608G>C (p.Trp203Ser)
| |
14 | g.74259630G>T | CA390369160 | VSX2 | c.608G>T (p.Trp203Leu)
| |