Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.18138193delCA2839218435MYO15An.218del
c.4954del (p.Leu1652Ter)
c.4948del (p.Leu1650Ter)
n.5607del
c.4957del (p.Leu1653Ter)
n.5646del
17g.18138193C>ACA398597498MYO15An.218C>A
c.4954C>A (p.Leu1652Met)
c.4948C>A (p.Leu1650Met)
n.5607C>A
c.4957C>A (p.Leu1653Met)
n.5646C>A
17g.18138193C=CA2250846937MYO15An.218C=
c.4954C= (p.Leu1652=)
c.4948C= (p.Leu1650=)
n.5607C=
c.4957C= (p.Leu1653=)
n.5646C=
17g.18138193C>GCA398597502MYO15An.218C>G
c.4954C>G (p.Leu1652Val)
c.4948C>G (p.Leu1650Val)
n.5607C>G
c.4957C>G (p.Leu1653Val)
n.5646C>G
17g.18138193C>TCA8424091MYO15An.218C>T
c.4954C>T (p.Leu1652=)
c.4948C>T (p.Leu1650=)
n.5607C>T
c.4957C>T (p.Leu1653=)
n.5646C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18138193_18138194insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCATCA981984668MYO15An.218_219insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
c.4954_4955insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT (p.Leu1652ProfsTer2)
c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT (p.Leu1650ProfsTer2)
n.5607_5608insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
c.4957_4958insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT (p.Leu1653ProfsTer2)
n.5646_5647insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
 gnomAD v3 gnomAD v4
17g.18138194T>ACA398597506MYO15An.219T>A
c.4955T>A (p.Leu1652Gln)
c.4949T>A (p.Leu1650Gln)
n.5608T>A
c.4958T>A (p.Leu1653Gln)
n.5647T>A
17g.18138194T>CCA398597508MYO15An.219T>C
c.4955T>C (p.Leu1652Pro)
c.4949T>C (p.Leu1650Pro)
n.5608T>C
c.4958T>C (p.Leu1653Pro)
n.5647T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.18138194T>GCA398597510MYO15An.219T>G
c.4955T>G (p.Leu1652Arg)
c.4949T>G (p.Leu1650Arg)
n.5608T>G
c.4958T>G (p.Leu1653Arg)
n.5647T>G
17g.18138194T=CA2250846938MYO15An.219T=
c.4955T= (p.Leu1652=)
c.4949T= (p.Leu1650=)
n.5608T=
c.4958T= (p.Leu1653=)
n.5647T=
17g.18138195G>ACA498200392MYO15An.220G>A
c.4956G>A (p.Leu1652=)
c.4950G>A (p.Leu1650=)
n.5609G>A
c.4959G>A (p.Leu1653=)
n.5648G>A
17g.18138195G>CCA498200393MYO15An.220G>C
c.4956G>C (p.Leu1652=)
c.4950G>C (p.Leu1650=)
n.5609G>C
c.4959G>C (p.Leu1653=)
n.5648G>C
17g.18138195G>TCA498200394MYO15An.220G>T
c.4956G>T (p.Leu1652=)
c.4950G>T (p.Leu1650=)
n.5609G>T
c.4959G>T (p.Leu1653=)
n.5648G>T
17g.18138196A>CCA398597513MYO15An.221A>C
c.4957A>C (p.Lys1653Gln)
c.4951A>C (p.Lys1651Gln)
n.5610A>C
c.4960A>C (p.Lys1654Gln)
n.5649A>C
17g.18138196A>GCA398597516MYO15An.221A>G
c.4957A>G (p.Lys1653Glu)
c.4951A>G (p.Lys1651Glu)
n.5610A>G
c.4960A>G (p.Lys1654Glu)
n.5649A>G
17g.18138196A>TCA398597518MYO15An.221A>T
c.4957A>T (p.Lys1653Ter)
c.4951A>T (p.Lys1651Ter)
n.5610A>T
c.4960A>T (p.Lys1654Ter)
n.5649A>T
17g.18138197delCA2839218421MYO15An.222del
c.4958del (p.Lys1653SerfsTer?)
c.4952del (p.Lys1651SerfsTer?)
n.5611del
c.4961del (p.Lys1654SerfsTer?)
n.5650del
17g.18138197A>CCA398597524MYO15An.222A>C
c.4958A>C (p.Lys1653Thr)
c.4952A>C (p.Lys1651Thr)
n.5611A>C
c.4961A>C (p.Lys1654Thr)
n.5650A>C
17g.18138197A>GCA398597521MYO15An.222A>G
c.4958A>G (p.Lys1653Arg)
c.4952A>G (p.Lys1651Arg)
n.5611A>G
c.4961A>G (p.Lys1654Arg)
n.5650A>G
17g.18138197A>TCA398597522MYO15An.222A>T
c.4958A>T (p.Lys1653Met)
c.4952A>T (p.Lys1651Met)
n.5611A>T
c.4961A>T (p.Lys1654Met)
n.5650A>T
17g.18138198G>ACA498200398MYO15An.223G>A
c.4959G>A (p.Lys1653=)
c.4953G>A (p.Lys1651=)
n.5612G>A
c.4962G>A (p.Lys1654=)
n.5651G>A
17g.18138198G>CCA398597528MYO15An.223G>C
c.4959G>C (p.Lys1653Asn)
c.4953G>C (p.Lys1651Asn)
n.5612G>C
c.4962G>C (p.Lys1654Asn)
n.5651G>C
17g.18138198G>TCA398597530MYO15An.223G>T
c.4959G>T (p.Lys1653Asn)
c.4953G>T (p.Lys1651Asn)
n.5612G>T
c.4962G>T (p.Lys1654Asn)
n.5651G>T
 gnomAD v4
17g.18138200_18138207delCA2636442862MYO15An.225_232del
c.4961_4968del (p.Pro1654HisfsTer6)
c.4955_4962del (p.Pro1652HisfsTer6)
n.5614_5621del
c.4964_4971del (p.Pro1655HisfsTer6)
n.5653_5660del
 gnomAD v4
17g.18138199C>ACA398597533MYO15An.224C>A
c.4960C>A (p.Pro1654Thr)
c.4954C>A (p.Pro1652Thr)
n.5613C>A
c.4963C>A (p.Pro1655Thr)
n.5652C>A
17g.18138199C=CA2250846939MYO15An.224C=
c.4960C= (p.Pro1654=)
c.4954C= (p.Pro1652=)
n.5613C=
c.4963C= (p.Pro1655=)
n.5652C=
17g.18138199C>GCA398597536MYO15An.224C>G
c.4960C>G (p.Pro1654Ala)
c.4954C>G (p.Pro1652Ala)
n.5613C>G
c.4963C>G (p.Pro1655Ala)
n.5652C>G
 dbSNP gnomAD v2 gnomAD v4
17g.18138199C>TCA8424092MYO15An.224C>T
c.4960C>T (p.Pro1654Ser)
c.4954C>T (p.Pro1652Ser)
n.5613C>T
c.4963C>T (p.Pro1655Ser)
n.5652C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.18138200C>ACA398597543MYO15An.225C>A
c.4961C>A (p.Pro1654His)
c.4955C>A (p.Pro1652His)
n.5614C>A
c.4964C>A (p.Pro1655His)
n.5653C>A
17g.18138200C>GCA398597547MYO15An.225C>G
c.4961C>G (p.Pro1654Arg)
c.4955C>G (p.Pro1652Arg)
n.5614C>G
c.4964C>G (p.Pro1655Arg)
n.5653C>G
17g.18138200C>TCA398597545MYO15An.225C>T
c.4961C>T (p.Pro1654Leu)
c.4955C>T (p.Pro1652Leu)
n.5614C>T
c.4964C>T (p.Pro1655Leu)
n.5653C>T
 gnomAD v4
17g.18138201T>ACA498200399MYO15An.226T>A
c.4962T>A (p.Pro1654=)
c.4956T>A (p.Pro1652=)
n.5615T>A
c.4965T>A (p.Pro1655=)
n.5654T>A
17g.18138201T>CCA8424093MYO15An.226T>C
c.4962T>C (p.Pro1654=)
c.4956T>C (p.Pro1652=)
n.5615T>C
c.4965T>C (p.Pro1655=)
n.5654T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.18138201T>GCA498200400MYO15An.226T>G
c.4962T>G (p.Pro1654=)
c.4956T>G (p.Pro1652=)
n.5615T>G
c.4965T>G (p.Pro1655=)
n.5654T>G
17g.18138201T=CA2250846940MYO15An.226T=
c.4962T= (p.Pro1654=)
c.4956T= (p.Pro1652=)
n.5615T=
c.4965T= (p.Pro1655=)
n.5654T=
17g.18138202T>ACA398597553MYO15An.227T>A
c.4963T>A (p.Tyr1655Asn)
c.4957T>A (p.Tyr1653Asn)
n.5616T>A
c.4966T>A (p.Tyr1656Asn)
n.5655T>A
17g.18138202T>CCA398597555MYO15An.227T>C
c.4963T>C (p.Tyr1655His)
c.4957T>C (p.Tyr1653His)
n.5616T>C
c.4966T>C (p.Tyr1656His)
n.5655T>C
 dbSNP gnomAD v4
17g.18138202T>GCA398597558MYO15An.227T>G
c.4963T>G (p.Tyr1655Asp)
c.4957T>G (p.Tyr1653Asp)
n.5616T>G
c.4966T>G (p.Tyr1656Asp)
n.5655T>G
17g.18138202T=CA2250846941MYO15An.227T=
c.4963T= (p.Tyr1655=)
c.4957T= (p.Tyr1653=)
n.5616T=
c.4966T= (p.Tyr1656=)
n.5655T=
17g.18138203_18138204delCA2840549037MYO15An.228_229del
c.4964_4965del (p.Tyr1655TrpfsTer7)
c.4958_4959del (p.Tyr1653TrpfsTer7)
n.5617_5618del
c.4967_4968del (p.Tyr1656TrpfsTer7)
n.5656_5657del
17g.18138203A>CCA398597561MYO15An.228A>C
c.4964A>C (p.Tyr1655Ser)
c.4958A>C (p.Tyr1653Ser)
n.5617A>C
c.4967A>C (p.Tyr1656Ser)
n.5656A>C
17g.18138203A>GCA398597563MYO15An.228A>G
c.4964A>G (p.Tyr1655Cys)
c.4958A>G (p.Tyr1653Cys)
n.5617A>G
c.4967A>G (p.Tyr1656Cys)
n.5656A>G
 ClinVar gnomAD v4
17g.18138203A>TCA398597566MYO15An.228A>T
c.4964A>T (p.Tyr1655Phe)
c.4958A>T (p.Tyr1653Phe)
n.5617A>T
c.4967A>T (p.Tyr1656Phe)
n.5656A>T
17g.18138204T>ACA398597568MYO15An.229T>A
c.4965T>A (p.Tyr1655Ter)
c.4959T>A (p.Tyr1653Ter)
n.5618T>A
c.4968T>A (p.Tyr1656Ter)
n.5657T>A
17g.18138204T>CCA498200402MYO15An.229T>C
c.4965T>C (p.Tyr1655=)
c.4959T>C (p.Tyr1653=)
n.5618T>C
c.4968T>C (p.Tyr1656=)
n.5657T>C
 ClinVar dbSNP gnomAD v4
17g.18138204T>GCA398597570MYO15An.229T>G
c.4965T>G (p.Tyr1655Ter)
c.4959T>G (p.Tyr1653Ter)
n.5618T>G
c.4968T>G (p.Tyr1656Ter)
n.5657T>G
17g.18138204T=CA2250846942MYO15An.229T=
c.4965T= (p.Tyr1655=)
c.4959T= (p.Tyr1653=)
n.5618T=
c.4968T= (p.Tyr1656=)
n.5657T=
17g.18138205G>ACA398597574MYO15An.230G>A
c.4966G>A (p.Gly1656Ser)
c.4960G>A (p.Gly1654Ser)
n.5619G>A
c.4969G>A (p.Gly1657Ser)
n.5658G>A
17g.18138205G>CCA398597576MYO15An.230G>C
c.4966G>C (p.Gly1656Arg)
c.4960G>C (p.Gly1654Arg)
n.5619G>C
c.4969G>C (p.Gly1657Arg)
n.5658G>C
17g.18138205G>TCA398597578MYO15An.230G>T
c.4966G>T (p.Gly1656Cys)
c.4960G>T (p.Gly1654Cys)
n.5619G>T
c.4969G>T (p.Gly1657Cys)
n.5658G>T

Number of alleles fetched