Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13753445T>A | CA359191950 | DNAH5 | c.10660A>T (p.Lys3554Ter) c.10615A>T (p.Lys3539Ter) c.10768A>T (p.Lys3590Ter) c.9673A>T (p.Lys3225Ter) c.5857A>T (p.Lys1953Ter) c.5410A>T (p.Lys1804Ter) c.4747A>T (p.Lys1583Ter) c.9262A>T (p.Lys3088Ter) | |
5 | g.13753445T>C | CA359191953 | DNAH5 | c.10660A>G (p.Lys3554Glu) c.10615A>G (p.Lys3539Glu) c.10768A>G (p.Lys3590Glu) c.9673A>G (p.Lys3225Glu) c.5857A>G (p.Lys1953Glu) c.5410A>G (p.Lys1804Glu) c.4747A>G (p.Lys1583Glu) c.9262A>G (p.Lys3088Glu) | |
5 | g.13753445T>G | CA359191956 | DNAH5 | c.10660A>C (p.Lys3554Gln) c.10615A>C (p.Lys3539Gln) c.10768A>C (p.Lys3590Gln) c.9673A>C (p.Lys3225Gln) c.5857A>C (p.Lys1953Gln) c.5410A>C (p.Lys1804Gln) c.4747A>C (p.Lys1583Gln) c.9262A>C (p.Lys3088Gln) | |
5 | g.13753446C>A | CA443535902 | DNAH5 | c.10659G>T (p.Arg3553=) c.10614G>T (p.Arg3538=) c.10767G>T (p.Arg3589=) c.9672G>T (p.Arg3224=) c.5856G>T (p.Arg1952=) c.5409G>T (p.Arg1803=) c.4746G>T (p.Arg1582=) c.9261G>T (p.Arg3087=) | |
5 | g.13753446C= | CA1528423512 | DNAH5 | c.10659G= (p.Arg3553=) c.10614G= (p.Arg3538=) c.10767G= (p.Arg3589=) c.9672G= (p.Arg3224=) c.5856G= (p.Arg1952=) c.5409G= (p.Arg1803=) c.4746G= (p.Arg1582=) c.9261G= (p.Arg3087=) | |
5 | g.13753446C>G | CA443535904 | DNAH5 | c.10659G>C (p.Arg3553=) c.10614G>C (p.Arg3538=) c.10767G>C (p.Arg3589=) c.9672G>C (p.Arg3224=) c.5856G>C (p.Arg1952=) c.5409G>C (p.Arg1803=) c.4746G>C (p.Arg1582=) c.9261G>C (p.Arg3087=) | ClinVar dbSNP gnomAD v4 |
5 | g.13753446C>T | CA443535903 | DNAH5 | c.10659G>A (p.Arg3553=) c.10614G>A (p.Arg3538=) c.10767G>A (p.Arg3589=) c.9672G>A (p.Arg3224=) c.5856G>A (p.Arg1952=) c.5409G>A (p.Arg1803=) c.4746G>A (p.Arg1582=) c.9261G>A (p.Arg3087=) | COSMIC |
5 | g.13753447C>A | CA359191959 | DNAH5 | c.10658G>T (p.Arg3553Leu) c.10613G>T (p.Arg3538Leu) c.10766G>T (p.Arg3589Leu) c.9671G>T (p.Arg3224Leu) c.5855G>T (p.Arg1952Leu) c.5408G>T (p.Arg1803Leu) c.4745G>T (p.Arg1582Leu) c.9260G>T (p.Arg3087Leu) | |
5 | g.13753447C= | CA1528423513 | DNAH5 | c.10658G= (p.Arg3553=) c.10613G= (p.Arg3538=) c.10766G= (p.Arg3589=) c.9671G= (p.Arg3224=) c.5855G= (p.Arg1952=) c.5408G= (p.Arg1803=) c.4745G= (p.Arg1582=) c.9260G= (p.Arg3087=) | |
5 | g.13753447C>G | CA359191962 | DNAH5 | c.10658G>C (p.Arg3553Pro) c.10613G>C (p.Arg3538Pro) c.10766G>C (p.Arg3589Pro) c.9671G>C (p.Arg3224Pro) c.5855G>C (p.Arg1952Pro) c.5408G>C (p.Arg1803Pro) c.4745G>C (p.Arg1582Pro) c.9260G>C (p.Arg3087Pro) | |
5 | g.13753447C>T | CA3202158 | DNAH5 | c.10658G>A (p.Arg3553Gln) c.10613G>A (p.Arg3538Gln) c.10766G>A (p.Arg3589Gln) c.9671G>A (p.Arg3224Gln) c.5855G>A (p.Arg1952Gln) c.5408G>A (p.Arg1803Gln) c.4745G>A (p.Arg1582Gln) c.9260G>A (p.Arg3087Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753448G>A | CA3202159 | DNAH5 | c.10657C>T (p.Arg3553Trp) c.10612C>T (p.Arg3538Trp) c.10765C>T (p.Arg3589Trp) c.9670C>T (p.Arg3224Trp) c.5854C>T (p.Arg1952Trp) c.5407C>T (p.Arg1803Trp) c.4744C>T (p.Arg1582Trp) c.9259C>T (p.Arg3087Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753448G>C | CA359191969 | DNAH5 | c.10657C>G (p.Arg3553Gly) c.10612C>G (p.Arg3538Gly) c.10765C>G (p.Arg3589Gly) c.9670C>G (p.Arg3224Gly) c.5854C>G (p.Arg1952Gly) c.5407C>G (p.Arg1803Gly) c.4744C>G (p.Arg1582Gly) c.9259C>G (p.Arg3087Gly) | |
5 | g.13753448G= | CA1528423514 | DNAH5 | c.10657C= (p.Arg3553=) c.10612C= (p.Arg3538=) c.10765C= (p.Arg3589=) c.9670C= (p.Arg3224=) c.5854C= (p.Arg1952=) c.5407C= (p.Arg1803=) c.4744C= (p.Arg1582=) c.9259C= (p.Arg3087=) | |
5 | g.13753448G>T | CA443535906 | DNAH5 | c.10657C>A (p.Arg3553=) c.10612C>A (p.Arg3538=) c.10765C>A (p.Arg3589=) c.9670C>A (p.Arg3224=) c.5854C>A (p.Arg1952=) c.5407C>A (p.Arg1803=) c.4744C>A (p.Arg1582=) c.9259C>A (p.Arg3087=) | |
5 | g.13753449G>A | CA3202161 | DNAH5 | c.10656C>T (p.Ala3552=) c.10611C>T (p.Ala3537=) c.10764C>T (p.Ala3588=) c.9669C>T (p.Ala3223=) c.5853C>T (p.Ala1951=) c.5406C>T (p.Ala1802=) c.4743C>T (p.Ala1581=) c.9258C>T (p.Ala3086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753449G>C | CA443535910 | DNAH5 | c.10656C>G (p.Ala3552=) c.10611C>G (p.Ala3537=) c.10764C>G (p.Ala3588=) c.9669C>G (p.Ala3223=) c.5853C>G (p.Ala1951=) c.5406C>G (p.Ala1802=) c.4743C>G (p.Ala1581=) c.9258C>G (p.Ala3086=) | |
5 | g.13753449G= | CA1528423515 | DNAH5 | c.10656C= (p.Ala3552=) c.10611C= (p.Ala3537=) c.10764C= (p.Ala3588=) c.9669C= (p.Ala3223=) c.5853C= (p.Ala1951=) c.5406C= (p.Ala1802=) c.4743C= (p.Ala1581=) c.9258C= (p.Ala3086=) | |
5 | g.13753449G>T | CA3202160 | DNAH5 | c.10656C>A (p.Ala3552=) c.10611C>A (p.Ala3537=) c.10764C>A (p.Ala3588=) c.9669C>A (p.Ala3223=) c.5853C>A (p.Ala1951=) c.5406C>A (p.Ala1802=) c.4743C>A (p.Ala1581=) c.9258C>A (p.Ala3086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753450G>A | CA359191982 | DNAH5 | c.10655C>T (p.Ala3552Val) c.10610C>T (p.Ala3537Val) c.10763C>T (p.Ala3588Val) c.9668C>T (p.Ala3223Val) c.5852C>T (p.Ala1951Val) c.5405C>T (p.Ala1802Val) c.4742C>T (p.Ala1581Val) c.9257C>T (p.Ala3086Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753450G>C | CA359191979 | DNAH5 | c.10655C>G (p.Ala3552Gly) c.10610C>G (p.Ala3537Gly) c.10763C>G (p.Ala3588Gly) c.9668C>G (p.Ala3223Gly) c.5852C>G (p.Ala1951Gly) c.5405C>G (p.Ala1802Gly) c.4742C>G (p.Ala1581Gly) c.9257C>G (p.Ala3086Gly) | |
5 | g.13753450G= | CA1528423516 | DNAH5 | c.10655C= (p.Ala3552=) c.10610C= (p.Ala3537=) c.10763C= (p.Ala3588=) c.9668C= (p.Ala3223=) c.5852C= (p.Ala1951=) c.5405C= (p.Ala1802=) c.4742C= (p.Ala1581=) c.9257C= (p.Ala3086=) | |
5 | g.13753450G>T | CA359191977 | DNAH5 | c.10655C>A (p.Ala3552Asp) c.10610C>A (p.Ala3537Asp) c.10763C>A (p.Ala3588Asp) c.9668C>A (p.Ala3223Asp) c.5852C>A (p.Ala1951Asp) c.5405C>A (p.Ala1802Asp) c.4742C>A (p.Ala1581Asp) c.9257C>A (p.Ala3086Asp) | |
5 | g.13753451C>A | CA359191985 | DNAH5 | c.10654G>T (p.Ala3552Ser) c.10609G>T (p.Ala3537Ser) c.10762G>T (p.Ala3588Ser) c.9667G>T (p.Ala3223Ser) c.5851G>T (p.Ala1951Ser) c.5404G>T (p.Ala1802Ser) c.4741G>T (p.Ala1581Ser) c.9256G>T (p.Ala3086Ser) | |
5 | g.13753451C>G | CA359191988 | DNAH5 | c.10654G>C (p.Ala3552Pro) c.10609G>C (p.Ala3537Pro) c.10762G>C (p.Ala3588Pro) c.9667G>C (p.Ala3223Pro) c.5851G>C (p.Ala1951Pro) c.5404G>C (p.Ala1802Pro) c.4741G>C (p.Ala1581Pro) c.9256G>C (p.Ala3086Pro) | |
5 | g.13753451C>T | CA359191991 | DNAH5 | c.10654G>A (p.Ala3552Thr) c.10609G>A (p.Ala3537Thr) c.10762G>A (p.Ala3588Thr) c.9667G>A (p.Ala3223Thr) c.5851G>A (p.Ala1951Thr) c.5404G>A (p.Ala1802Thr) c.4741G>A (p.Ala1581Thr) c.9256G>A (p.Ala3086Thr) | COSMIC |
5 | g.13753452T>A | CA359191993 | DNAH5 | c.10653A>T (p.Lys3551Asn) c.10608A>T (p.Lys3536Asn) c.10761A>T (p.Lys3587Asn) c.9666A>T (p.Lys3222Asn) c.5850A>T (p.Lys1950Asn) c.5403A>T (p.Lys1801Asn) c.4740A>T (p.Lys1580Asn) c.9255A>T (p.Lys3085Asn) | |
5 | g.13753452T>C | CA443535916 | DNAH5 | c.10653A>G (p.Lys3551=) c.10608A>G (p.Lys3536=) c.10761A>G (p.Lys3587=) c.9666A>G (p.Lys3222=) c.5850A>G (p.Lys1950=) c.5403A>G (p.Lys1801=) c.4740A>G (p.Lys1580=) c.9255A>G (p.Lys3085=) | |
5 | g.13753452T>G | CA359191996 | DNAH5 | c.10653A>C (p.Lys3551Asn) c.10608A>C (p.Lys3536Asn) c.10761A>C (p.Lys3587Asn) c.9666A>C (p.Lys3222Asn) c.5850A>C (p.Lys1950Asn) c.5403A>C (p.Lys1801Asn) c.4740A>C (p.Lys1580Asn) c.9255A>C (p.Lys3085Asn) | |
5 | g.13753453T>A | CA359192002 | DNAH5 | c.10652A>T (p.Lys3551Ile) c.10607A>T (p.Lys3536Ile) c.10760A>T (p.Lys3587Ile) c.9665A>T (p.Lys3222Ile) c.5849A>T (p.Lys1950Ile) c.5402A>T (p.Lys1801Ile) c.4739A>T (p.Lys1580Ile) c.9254A>T (p.Lys3085Ile) | |
5 | g.13753453T>C | CA359192000 | DNAH5 | c.10652A>G (p.Lys3551Arg) c.10607A>G (p.Lys3536Arg) c.10760A>G (p.Lys3587Arg) c.9665A>G (p.Lys3222Arg) c.5849A>G (p.Lys1950Arg) c.5402A>G (p.Lys1801Arg) c.4739A>G (p.Lys1580Arg) c.9254A>G (p.Lys3085Arg) | |
5 | g.13753453T>G | CA359191998 | DNAH5 | c.10652A>C (p.Lys3551Thr) c.10607A>C (p.Lys3536Thr) c.10760A>C (p.Lys3587Thr) c.9665A>C (p.Lys3222Thr) c.5849A>C (p.Lys1950Thr) c.5402A>C (p.Lys1801Thr) c.4739A>C (p.Lys1580Thr) c.9254A>C (p.Lys3085Thr) | |
5 | g.13753454T>A | CA359192004 | DNAH5 | c.10651A>T (p.Lys3551Ter) c.10606A>T (p.Lys3536Ter) c.10759A>T (p.Lys3587Ter) c.9664A>T (p.Lys3222Ter) c.5848A>T (p.Lys1950Ter) c.5401A>T (p.Lys1801Ter) c.4738A>T (p.Lys1580Ter) c.9253A>T (p.Lys3085Ter) | |
5 | g.13753454T>C | CA359192006 | DNAH5 | c.10651A>G (p.Lys3551Glu) c.10606A>G (p.Lys3536Glu) c.10759A>G (p.Lys3587Glu) c.9664A>G (p.Lys3222Glu) c.5848A>G (p.Lys1950Glu) c.5401A>G (p.Lys1801Glu) c.4738A>G (p.Lys1580Glu) c.9253A>G (p.Lys3085Glu) | |
5 | g.13753454T>G | CA359192010 | DNAH5 | c.10651A>C (p.Lys3551Gln) c.10606A>C (p.Lys3536Gln) c.10759A>C (p.Lys3587Gln) c.9664A>C (p.Lys3222Gln) c.5848A>C (p.Lys1950Gln) c.5401A>C (p.Lys1801Gln) c.4738A>C (p.Lys1580Gln) c.9253A>C (p.Lys3085Gln) | |
5 | g.13753455C>A | CA359192013 | DNAH5 | c.10650G>T (p.Met3550Ile) c.10605G>T (p.Met3535Ile) c.10758G>T (p.Met3586Ile) c.9663G>T (p.Met3221Ile) c.5847G>T (p.Met1949Ile) c.5400G>T (p.Met1800Ile) c.4737G>T (p.Met1579Ile) c.9252G>T (p.Met3084Ile) | |
5 | g.13753455C= | CA1528423517 | DNAH5 | c.10650G= (p.Met3550=) c.10605G= (p.Met3535=) c.10758G= (p.Met3586=) c.9663G= (p.Met3221=) c.5847G= (p.Met1949=) c.5400G= (p.Met1800=) c.4737G= (p.Met1579=) c.9252G= (p.Met3084=) | |
5 | g.13753455C>G | CA359192014 | DNAH5 | c.10650G>C (p.Met3550Ile) c.10605G>C (p.Met3535Ile) c.10758G>C (p.Met3586Ile) c.9663G>C (p.Met3221Ile) c.5847G>C (p.Met1949Ile) c.5400G>C (p.Met1800Ile) c.4737G>C (p.Met1579Ile) c.9252G>C (p.Met3084Ile) | |
5 | g.13753455C>T | CA113919051 | DNAH5 | c.10650G>A (p.Met3550Ile) c.10605G>A (p.Met3535Ile) c.10758G>A (p.Met3586Ile) c.9663G>A (p.Met3221Ile) c.5847G>A (p.Met1949Ile) c.5400G>A (p.Met1800Ile) c.4737G>A (p.Met1579Ile) c.9252G>A (p.Met3084Ile) | dbSNP gnomAD v4 COSMIC |
5 | g.13753456A= | CA1528423518 | DNAH5 | c.10649T= (p.Met3550=) c.10604T= (p.Met3535=) c.10757T= (p.Met3586=) c.9662T= (p.Met3221=) c.5846T= (p.Met1949=) c.5399T= (p.Met1800=) c.4736T= (p.Met1579=) c.9251T= (p.Met3084=) | |
5 | g.13753456A>C | CA3202162 | DNAH5 | c.10649T>G (p.Met3550Arg) c.10604T>G (p.Met3535Arg) c.10757T>G (p.Met3586Arg) c.9662T>G (p.Met3221Arg) c.5846T>G (p.Met1949Arg) c.5399T>G (p.Met1800Arg) c.4736T>G (p.Met1579Arg) c.9251T>G (p.Met3084Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753456A>G | CA359192017 | DNAH5 | c.10649T>C (p.Met3550Thr) c.10604T>C (p.Met3535Thr) c.10757T>C (p.Met3586Thr) c.9662T>C (p.Met3221Thr) c.5846T>C (p.Met1949Thr) c.5399T>C (p.Met1800Thr) c.4736T>C (p.Met1579Thr) c.9251T>C (p.Met3084Thr) | |
5 | g.13753456A>T | CA359192019 | DNAH5 | c.10649T>A (p.Met3550Lys) c.10604T>A (p.Met3535Lys) c.10757T>A (p.Met3586Lys) c.9662T>A (p.Met3221Lys) c.5846T>A (p.Met1949Lys) c.5399T>A (p.Met1800Lys) c.4736T>A (p.Met1579Lys) c.9251T>A (p.Met3084Lys) | |
5 | g.13753457T>A | CA359192022 | DNAH5 | c.10648A>T (p.Met3550Leu) c.10603A>T (p.Met3535Leu) c.10756A>T (p.Met3586Leu) c.9661A>T (p.Met3221Leu) c.5845A>T (p.Met1949Leu) c.5398A>T (p.Met1800Leu) c.4735A>T (p.Met1579Leu) c.9250A>T (p.Met3084Leu) | |
5 | g.13753457T>C | CA359192023 | DNAH5 | c.10648A>G (p.Met3550Val) c.10603A>G (p.Met3535Val) c.10756A>G (p.Met3586Val) c.9661A>G (p.Met3221Val) c.5845A>G (p.Met1949Val) c.5398A>G (p.Met1800Val) c.4735A>G (p.Met1579Val) c.9250A>G (p.Met3084Val) | |
5 | g.13753457T>G | CA359192024 | DNAH5 | c.10648A>C (p.Met3550Leu) c.10603A>C (p.Met3535Leu) c.10756A>C (p.Met3586Leu) c.9661A>C (p.Met3221Leu) c.5845A>C (p.Met1949Leu) c.5398A>C (p.Met1800Leu) c.4735A>C (p.Met1579Leu) c.9250A>C (p.Met3084Leu) | |
5 | g.13753459_13753463dup | CA1528423519 | DNAH5 | c.10644_10648dup (p.Met3550ArgfsTer3) c.10599_10603dup (p.Met3535ArgfsTer3) c.10752_10756dup (p.Met3586ArgfsTer3) c.9657_9661dup (p.Met3221ArgfsTer3) c.5841_5845dup (p.Met1949ArgfsTer3) c.5394_5398dup (p.Met1800ArgfsTer3) c.4731_4735dup (p.Met1579ArgfsTer3) c.9246_9250dup (p.Met3084ArgfsTer3) | dbSNP |
5 | g.13753458T>A | CA359192026 | DNAH5 | c.10647A>T (p.Glu3549Asp) c.10602A>T (p.Glu3534Asp) c.10755A>T (p.Glu3585Asp) c.9660A>T (p.Glu3220Asp) c.5844A>T (p.Glu1948Asp) c.5397A>T (p.Glu1799Asp) c.4734A>T (p.Glu1578Asp) c.9249A>T (p.Glu3083Asp) | |
5 | g.13753458T>C | CA443535930 | DNAH5 | c.10647A>G (p.Glu3549=) c.10602A>G (p.Glu3534=) c.10755A>G (p.Glu3585=) c.9660A>G (p.Glu3220=) c.5844A>G (p.Glu1948=) c.5397A>G (p.Glu1799=) c.4734A>G (p.Glu1578=) c.9249A>G (p.Glu3083=) | gnomAD v4 |
5 | g.13753458T>G | CA359192028 | DNAH5 | c.10647A>C (p.Glu3549Asp) c.10602A>C (p.Glu3534Asp) c.10755A>C (p.Glu3585Asp) c.9660A>C (p.Glu3220Asp) c.5844A>C (p.Glu1948Asp) c.5397A>C (p.Glu1799Asp) c.4734A>C (p.Glu1578Asp) c.9249A>C (p.Glu3083Asp) | |
5 | g.13753459T>A | CA359192030 | DNAH5 | c.10646A>T (p.Glu3549Val) c.10601A>T (p.Glu3534Val) c.10754A>T (p.Glu3585Val) c.9659A>T (p.Glu3220Val) c.5843A>T (p.Glu1948Val) c.5396A>T (p.Glu1799Val) c.4733A>T (p.Glu1578Val) c.9248A>T (p.Glu3083Val) | |
5 | g.13753459T>C | CA3202163 | DNAH5 | c.10646A>G (p.Glu3549Gly) c.10601A>G (p.Glu3534Gly) c.10754A>G (p.Glu3585Gly) c.9659A>G (p.Glu3220Gly) c.5843A>G (p.Glu1948Gly) c.5396A>G (p.Glu1799Gly) c.4733A>G (p.Glu1578Gly) c.9248A>G (p.Glu3083Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753459T>G | CA359192032 | DNAH5 | c.10646A>C (p.Glu3549Ala) c.10601A>C (p.Glu3534Ala) c.10754A>C (p.Glu3585Ala) c.9659A>C (p.Glu3220Ala) c.5843A>C (p.Glu1948Ala) c.5396A>C (p.Glu1799Ala) c.4733A>C (p.Glu1578Ala) c.9248A>C (p.Glu3083Ala) | gnomAD v4 |
5 | g.13753459T= | CA1528423520 | DNAH5 | c.10646A= (p.Glu3549=) c.10601A= (p.Glu3534=) c.10754A= (p.Glu3585=) c.9659A= (p.Glu3220=) c.5843A= (p.Glu1948=) c.5396A= (p.Glu1799=) c.4733A= (p.Glu1578=) c.9248A= (p.Glu3083=) | |
5 | g.13753460C>A | CA359192033 | DNAH5 | c.10645G>T (p.Glu3549Ter) c.10600G>T (p.Glu3534Ter) c.10753G>T (p.Glu3585Ter) c.9658G>T (p.Glu3220Ter) c.5842G>T (p.Glu1948Ter) c.5395G>T (p.Glu1799Ter) c.4732G>T (p.Glu1578Ter) c.9247G>T (p.Glu3083Ter) | |
5 | g.13753460C= | CA1528423521 | DNAH5 | c.10645G= (p.Glu3549=) c.10600G= (p.Glu3534=) c.10753G= (p.Glu3585=) c.9658G= (p.Glu3220=) c.5842G= (p.Glu1948=) c.5395G= (p.Glu1799=) c.4732G= (p.Glu1578=) c.9247G= (p.Glu3083=) | |
5 | g.13753460C>G | CA359192034 | DNAH5 | c.10645G>C (p.Glu3549Gln) c.10600G>C (p.Glu3534Gln) c.10753G>C (p.Glu3585Gln) c.9658G>C (p.Glu3220Gln) c.5842G>C (p.Glu1948Gln) c.5395G>C (p.Glu1799Gln) c.4732G>C (p.Glu1578Gln) c.9247G>C (p.Glu3083Gln) | |
5 | g.13753460C>T | CA113919063 | DNAH5 | c.10645G>A (p.Glu3549Lys) c.10600G>A (p.Glu3534Lys) c.10753G>A (p.Glu3585Lys) c.9658G>A (p.Glu3220Lys) c.5842G>A (p.Glu1948Lys) c.5395G>A (p.Glu1799Lys) c.4732G>A (p.Glu1578Lys) c.9247G>A (p.Glu3083Lys) | dbSNP COSMIC |
5 | g.13753461C>A | CA359192037 | DNAH5 | c.10644G>T (p.Lys3548Asn) c.10599G>T (p.Lys3533Asn) c.10752G>T (p.Lys3584Asn) c.9657G>T (p.Lys3219Asn) c.5841G>T (p.Lys1947Asn) c.5394G>T (p.Lys1798Asn) c.4731G>T (p.Lys1577Asn) c.9246G>T (p.Lys3082Asn) | |
5 | g.13753461C>G | CA359192038 | DNAH5 | c.10644G>C (p.Lys3548Asn) c.10599G>C (p.Lys3533Asn) c.10752G>C (p.Lys3584Asn) c.9657G>C (p.Lys3219Asn) c.5841G>C (p.Lys1947Asn) c.5394G>C (p.Lys1798Asn) c.4731G>C (p.Lys1577Asn) c.9246G>C (p.Lys3082Asn) | |
5 | g.13753461C>T | CA443535938 | DNAH5 | c.10644G>A (p.Lys3548=) c.10599G>A (p.Lys3533=) c.10752G>A (p.Lys3584=) c.9657G>A (p.Lys3219=) c.5841G>A (p.Lys1947=) c.5394G>A (p.Lys1798=) c.4731G>A (p.Lys1577=) c.9246G>A (p.Lys3082=) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.13753462T>A | CA359192040 | DNAH5 | c.10643A>T (p.Lys3548Met) c.10598A>T (p.Lys3533Met) c.10751A>T (p.Lys3584Met) c.9656A>T (p.Lys3219Met) c.5840A>T (p.Lys1947Met) c.5393A>T (p.Lys1798Met) c.4730A>T (p.Lys1577Met) c.9245A>T (p.Lys3082Met) | |
5 | g.13753462T>C | CA359192043 | DNAH5 | c.10643A>G (p.Lys3548Arg) c.10598A>G (p.Lys3533Arg) c.10751A>G (p.Lys3584Arg) c.9656A>G (p.Lys3219Arg) c.5840A>G (p.Lys1947Arg) c.5393A>G (p.Lys1798Arg) c.4730A>G (p.Lys1577Arg) c.9245A>G (p.Lys3082Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753462T>G | CA359192042 | DNAH5 | c.10643A>C (p.Lys3548Thr) c.10598A>C (p.Lys3533Thr) c.10751A>C (p.Lys3584Thr) c.9656A>C (p.Lys3219Thr) c.5840A>C (p.Lys1947Thr) c.5393A>C (p.Lys1798Thr) c.4730A>C (p.Lys1577Thr) c.9245A>C (p.Lys3082Thr) | |
5 | g.13753462T= | CA1528423522 | DNAH5 | c.10643A= (p.Lys3548=) c.10598A= (p.Lys3533=) c.10751A= (p.Lys3584=) c.9656A= (p.Lys3219=) c.5840A= (p.Lys1947=) c.5393A= (p.Lys1798=) c.4730A= (p.Lys1577=) c.9245A= (p.Lys3082=) | |
5 | g.13753463T>A | CA359192045 | DNAH5 | c.10642A>T (p.Lys3548Ter) c.10597A>T (p.Lys3533Ter) c.10750A>T (p.Lys3584Ter) c.9655A>T (p.Lys3219Ter) c.5839A>T (p.Lys1947Ter) c.5392A>T (p.Lys1798Ter) c.4729A>T (p.Lys1577Ter) c.9244A>T (p.Lys3082Ter) | |
5 | g.13753463T>C | CA359192047 | DNAH5 | c.10642A>G (p.Lys3548Glu) c.10597A>G (p.Lys3533Glu) c.10750A>G (p.Lys3584Glu) c.9655A>G (p.Lys3219Glu) c.5839A>G (p.Lys1947Glu) c.5392A>G (p.Lys1798Glu) c.4729A>G (p.Lys1577Glu) c.9244A>G (p.Lys3082Glu) | |
5 | g.13753463T>G | CA359192049 | DNAH5 | c.10642A>C (p.Lys3548Gln) c.10597A>C (p.Lys3533Gln) c.10750A>C (p.Lys3584Gln) c.9655A>C (p.Lys3219Gln) c.5839A>C (p.Lys1947Gln) c.5392A>C (p.Lys1798Gln) c.4729A>C (p.Lys1577Gln) c.9244A>C (p.Lys3082Gln) | |
5 | g.13753464C>A | CA443535943 | DNAH5 | c.10641G>T (p.Arg3547=) c.10596G>T (p.Arg3532=) c.10749G>T (p.Arg3583=) c.9654G>T (p.Arg3218=) c.5838G>T (p.Arg1946=) c.5391G>T (p.Arg1797=) c.4728G>T (p.Arg1576=) c.9243G>T (p.Arg3081=) | |
5 | g.13753464C>G | CA443535944 | DNAH5 | c.10641G>C (p.Arg3547=) c.10596G>C (p.Arg3532=) c.10749G>C (p.Arg3583=) c.9654G>C (p.Arg3218=) c.5838G>C (p.Arg1946=) c.5391G>C (p.Arg1797=) c.4728G>C (p.Arg1576=) c.9243G>C (p.Arg3081=) | |
5 | g.13753464C>T | CA443535945 | DNAH5 | c.10641G>A (p.Arg3547=) c.10596G>A (p.Arg3532=) c.10749G>A (p.Arg3583=) c.9654G>A (p.Arg3218=) c.5838G>A (p.Arg1946=) c.5391G>A (p.Arg1797=) c.4728G>A (p.Arg1576=) c.9243G>A (p.Arg3081=) | gnomAD v4 |
5 | g.13753465C>A | CA359192050 | DNAH5 | c.10640G>T (p.Arg3547Leu) c.10595G>T (p.Arg3532Leu) c.10748G>T (p.Arg3583Leu) c.9653G>T (p.Arg3218Leu) c.5837G>T (p.Arg1946Leu) c.5390G>T (p.Arg1797Leu) c.4727G>T (p.Arg1576Leu) c.9242G>T (p.Arg3081Leu) | |
5 | g.13753465C= | CA1528423523 | DNAH5 | c.10640G= (p.Arg3547=) c.10595G= (p.Arg3532=) c.10748G= (p.Arg3583=) c.9653G= (p.Arg3218=) c.5837G= (p.Arg1946=) c.5390G= (p.Arg1797=) c.4727G= (p.Arg1576=) c.9242G= (p.Arg3081=) | |
5 | g.13753465C>G | CA359192052 | DNAH5 | c.10640G>C (p.Arg3547Pro) c.10595G>C (p.Arg3532Pro) c.10748G>C (p.Arg3583Pro) c.9653G>C (p.Arg3218Pro) c.5837G>C (p.Arg1946Pro) c.5390G>C (p.Arg1797Pro) c.4727G>C (p.Arg1576Pro) c.9242G>C (p.Arg3081Pro) | |
5 | g.13753465C>T | CA3202164 | DNAH5 | c.10640G>A (p.Arg3547Gln) c.10595G>A (p.Arg3532Gln) c.10748G>A (p.Arg3583Gln) c.9653G>A (p.Arg3218Gln) c.5837G>A (p.Arg1946Gln) c.5390G>A (p.Arg1797Gln) c.4727G>A (p.Arg1576Gln) c.9242G>A (p.Arg3081Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753466G>A | CA3202165 | DNAH5 | c.10639C>T (p.Arg3547Trp) c.10594C>T (p.Arg3532Trp) c.10747C>T (p.Arg3583Trp) c.9652C>T (p.Arg3218Trp) c.5836C>T (p.Arg1946Trp) c.5389C>T (p.Arg1797Trp) c.4726C>T (p.Arg1576Trp) c.9241C>T (p.Arg3081Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753466G>C | CA3202166 | DNAH5 | c.10639C>G (p.Arg3547Gly) c.10594C>G (p.Arg3532Gly) c.10747C>G (p.Arg3583Gly) c.9652C>G (p.Arg3218Gly) c.5836C>G (p.Arg1946Gly) c.5389C>G (p.Arg1797Gly) c.4726C>G (p.Arg1576Gly) c.9241C>G (p.Arg3081Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753466G= | CA1528423524 | DNAH5 | c.10639C= (p.Arg3547=) c.10594C= (p.Arg3532=) c.10747C= (p.Arg3583=) c.9652C= (p.Arg3218=) c.5836C= (p.Arg1946=) c.5389C= (p.Arg1797=) c.4726C= (p.Arg1576=) c.9241C= (p.Arg3081=) | |
5 | g.13753466G>T | CA443535946 | DNAH5 | c.10639C>A (p.Arg3547=) c.10594C>A (p.Arg3532=) c.10747C>A (p.Arg3583=) c.9652C>A (p.Arg3218=) c.5836C>A (p.Arg1946=) c.5389C>A (p.Arg1797=) c.4726C>A (p.Arg1576=) c.9241C>A (p.Arg3081=) | |
5 | g.13753467C>A | CA359192057 | DNAH5 | c.10638G>T (p.Trp3546Cys) c.10593G>T (p.Trp3531Cys) c.10746G>T (p.Trp3582Cys) c.9651G>T (p.Trp3217Cys) c.5835G>T (p.Trp1945Cys) c.5388G>T (p.Trp1796Cys) c.4725G>T (p.Trp1575Cys) c.9240G>T (p.Trp3080Cys) | |
5 | g.13753467C>G | CA359192058 | DNAH5 | c.10638G>C (p.Trp3546Cys) c.10593G>C (p.Trp3531Cys) c.10746G>C (p.Trp3582Cys) c.9651G>C (p.Trp3217Cys) c.5835G>C (p.Trp1945Cys) c.5388G>C (p.Trp1796Cys) c.4725G>C (p.Trp1575Cys) c.9240G>C (p.Trp3080Cys) | |
5 | g.13753467C>T | CA359192060 | DNAH5 | c.10638G>A (p.Trp3546Ter) c.10593G>A (p.Trp3531Ter) c.10746G>A (p.Trp3582Ter) c.9651G>A (p.Trp3217Ter) c.5835G>A (p.Trp1945Ter) c.5388G>A (p.Trp1796Ter) c.4725G>A (p.Trp1575Ter) c.9240G>A (p.Trp3080Ter) | |
5 | g.13753468C>A | CA359192065 | DNAH5 | c.10637G>T (p.Trp3546Leu) c.10592G>T (p.Trp3531Leu) c.10745G>T (p.Trp3582Leu) c.9650G>T (p.Trp3217Leu) c.5834G>T (p.Trp1945Leu) c.5387G>T (p.Trp1796Leu) c.4724G>T (p.Trp1575Leu) c.9239G>T (p.Trp3080Leu) | |
5 | g.13753468C>G | CA359192063 | DNAH5 | c.10637G>C (p.Trp3546Ser) c.10592G>C (p.Trp3531Ser) c.10745G>C (p.Trp3582Ser) c.9650G>C (p.Trp3217Ser) c.5834G>C (p.Trp1945Ser) c.5387G>C (p.Trp1796Ser) c.4724G>C (p.Trp1575Ser) c.9239G>C (p.Trp3080Ser) | |
5 | g.13753468C>T | CA359192062 | DNAH5 | c.10637G>A (p.Trp3546Ter) c.10592G>A (p.Trp3531Ter) c.10745G>A (p.Trp3582Ter) c.9650G>A (p.Trp3217Ter) c.5834G>A (p.Trp1945Ter) c.5387G>A (p.Trp1796Ter) c.4724G>A (p.Trp1575Ter) c.9239G>A (p.Trp3080Ter) | |
5 | g.13753469del | CA2673270451 | DNAH5 | c.10636del (p.Trp3546GlyfsTer5) c.10591del (p.Trp3531GlyfsTer5) c.10744del (p.Trp3582GlyfsTer5) c.9649del (p.Trp3217GlyfsTer5) c.5833del (p.Trp1945GlyfsTer5) c.5386del (p.Trp1796GlyfsTer5) c.4723del (p.Trp1575GlyfsTer5) c.9238del (p.Trp3080GlyfsTer5) | gnomAD v4 |
5 | g.13753469A= | CA1528423525 | DNAH5 | c.10636T= (p.Trp3546=) c.10591T= (p.Trp3531=) c.10744T= (p.Trp3582=) c.9649T= (p.Trp3217=) c.5833T= (p.Trp1945=) c.5386T= (p.Trp1796=) c.4723T= (p.Trp1575=) c.9238T= (p.Trp3080=) | |
5 | g.13753469A>C | CA359192067 | DNAH5 | c.10636T>G (p.Trp3546Gly) c.10591T>G (p.Trp3531Gly) c.10744T>G (p.Trp3582Gly) c.9649T>G (p.Trp3217Gly) c.5833T>G (p.Trp1945Gly) c.5386T>G (p.Trp1796Gly) c.4723T>G (p.Trp1575Gly) c.9238T>G (p.Trp3080Gly) | |
5 | g.13753469A>G | CA113919097 | DNAH5 | c.10636T>C (p.Trp3546Arg) c.10591T>C (p.Trp3531Arg) c.10744T>C (p.Trp3582Arg) c.9649T>C (p.Trp3217Arg) c.5833T>C (p.Trp1945Arg) c.5386T>C (p.Trp1796Arg) c.4723T>C (p.Trp1575Arg) c.9238T>C (p.Trp3080Arg) | dbSNP |
5 | g.13753469A>T | CA359192069 | DNAH5 | c.10636T>A (p.Trp3546Arg) c.10591T>A (p.Trp3531Arg) c.10744T>A (p.Trp3582Arg) c.9649T>A (p.Trp3217Arg) c.5833T>A (p.Trp1945Arg) c.5386T>A (p.Trp1796Arg) c.4723T>A (p.Trp1575Arg) c.9238T>A (p.Trp3080Arg) | |
5 | g.13753470G>A | CA443535953 | DNAH5 | c.10635C>T (p.Asp3545=) c.10590C>T (p.Asp3530=) c.10743C>T (p.Asp3581=) c.9648C>T (p.Asp3216=) c.5832C>T (p.Asp1944=) c.5385C>T (p.Asp1795=) c.4722C>T (p.Asp1574=) c.9237C>T (p.Asp3079=) | |
5 | g.13753470G>C | CA359192071 | DNAH5 | c.10635C>G (p.Asp3545Glu) c.10590C>G (p.Asp3530Glu) c.10743C>G (p.Asp3581Glu) c.9648C>G (p.Asp3216Glu) c.5832C>G (p.Asp1944Glu) c.5385C>G (p.Asp1795Glu) c.4722C>G (p.Asp1574Glu) c.9237C>G (p.Asp3079Glu) | |
5 | g.13753470G>T | CA359192073 | DNAH5 | c.10635C>A (p.Asp3545Glu) c.10590C>A (p.Asp3530Glu) c.10743C>A (p.Asp3581Glu) c.9648C>A (p.Asp3216Glu) c.5832C>A (p.Asp1944Glu) c.5385C>A (p.Asp1795Glu) c.4722C>A (p.Asp1574Glu) c.9237C>A (p.Asp3079Glu) | |
5 | g.13753471T>A | CA359192075 | DNAH5 | c.10634A>T (p.Asp3545Val) c.10589A>T (p.Asp3530Val) c.10742A>T (p.Asp3581Val) c.9647A>T (p.Asp3216Val) c.5831A>T (p.Asp1944Val) c.5384A>T (p.Asp1795Val) c.4721A>T (p.Asp1574Val) c.9236A>T (p.Asp3079Val) | ClinVar gnomAD v4 |
5 | g.13753471T>C | CA359192076 | DNAH5 | c.10634A>G (p.Asp3545Gly) c.10589A>G (p.Asp3530Gly) c.10742A>G (p.Asp3581Gly) c.9647A>G (p.Asp3216Gly) c.5831A>G (p.Asp1944Gly) c.5384A>G (p.Asp1795Gly) c.4721A>G (p.Asp1574Gly) c.9236A>G (p.Asp3079Gly) | |
5 | g.13753471T>G | CA359192078 | DNAH5 | c.10634A>C (p.Asp3545Ala) c.10589A>C (p.Asp3530Ala) c.10742A>C (p.Asp3581Ala) c.9647A>C (p.Asp3216Ala) c.5831A>C (p.Asp1944Ala) c.5384A>C (p.Asp1795Ala) c.4721A>C (p.Asp1574Ala) c.9236A>C (p.Asp3079Ala) | |
5 | g.13753472C>A | CA359192080 | DNAH5 | c.10633G>T (p.Asp3545Tyr) c.10588G>T (p.Asp3530Tyr) c.10741G>T (p.Asp3581Tyr) c.9646G>T (p.Asp3216Tyr) c.5830G>T (p.Asp1944Tyr) c.5383G>T (p.Asp1795Tyr) c.4720G>T (p.Asp1574Tyr) c.9235G>T (p.Asp3079Tyr) | dbSNP |
5 | g.13753472C= | CA1528423526 | DNAH5 | c.10633G= (p.Asp3545=) c.10588G= (p.Asp3530=) c.10741G= (p.Asp3581=) c.9646G= (p.Asp3216=) c.5830G= (p.Asp1944=) c.5383G= (p.Asp1795=) c.4720G= (p.Asp1574=) c.9235G= (p.Asp3079=) | |
5 | g.13753472C>G | CA359192081 | DNAH5 | c.10633G>C (p.Asp3545His) c.10588G>C (p.Asp3530His) c.10741G>C (p.Asp3581His) c.9646G>C (p.Asp3216His) c.5830G>C (p.Asp1944His) c.5383G>C (p.Asp1795His) c.4720G>C (p.Asp1574His) c.9235G>C (p.Asp3079His) | |
5 | g.13753472C>T | CA359192083 | DNAH5 | c.10633G>A (p.Asp3545Asn) c.10588G>A (p.Asp3530Asn) c.10741G>A (p.Asp3581Asn) c.9646G>A (p.Asp3216Asn) c.5830G>A (p.Asp1944Asn) c.5383G>A (p.Asp1795Asn) c.4720G>A (p.Asp1574Asn) c.9235G>A (p.Asp3079Asn) | gnomAD v4 |
5 | g.13753473del | CA2673270452 | DNAH5 | c.10632del (p.Asn3544LysfsTer7) c.10587del (p.Asn3529LysfsTer7) c.10740del (p.Asn3580LysfsTer7) c.9645del (p.Asn3215LysfsTer7) c.5829del (p.Asn1943LysfsTer7) c.5382del (p.Asn1794LysfsTer7) c.4719del (p.Asn1573LysfsTer7) c.9234del (p.Asn3078LysfsTer7) | gnomAD v4 |
5 | g.13753473A>C | CA359192084 | DNAH5 | c.10632T>G (p.Asn3544Lys) c.10587T>G (p.Asn3529Lys) c.10740T>G (p.Asn3580Lys) c.9645T>G (p.Asn3215Lys) c.5829T>G (p.Asn1943Lys) c.5382T>G (p.Asn1794Lys) c.4719T>G (p.Asn1573Lys) c.9234T>G (p.Asn3078Lys) | |
5 | g.13753473A>G | CA443535954 | DNAH5 | c.10632T>C (p.Asn3544=) c.10587T>C (p.Asn3529=) c.10740T>C (p.Asn3580=) c.9645T>C (p.Asn3215=) c.5829T>C (p.Asn1943=) c.5382T>C (p.Asn1794=) c.4719T>C (p.Asn1573=) c.9234T>C (p.Asn3078=) | |
5 | g.13753473A>T | CA359192085 | DNAH5 | c.10632T>A (p.Asn3544Lys) c.10587T>A (p.Asn3529Lys) c.10740T>A (p.Asn3580Lys) c.9645T>A (p.Asn3215Lys) c.5829T>A (p.Asn1943Lys) c.5382T>A (p.Asn1794Lys) c.4719T>A (p.Asn1573Lys) c.9234T>A (p.Asn3078Lys) | |
5 | g.13753474T>A | CA359192089 | DNAH5 | c.10631A>T (p.Asn3544Ile) c.10586A>T (p.Asn3529Ile) c.10739A>T (p.Asn3580Ile) c.9644A>T (p.Asn3215Ile) c.5828A>T (p.Asn1943Ile) c.5381A>T (p.Asn1794Ile) c.4718A>T (p.Asn1573Ile) c.9233A>T (p.Asn3078Ile) | |
5 | g.13753474T>C | CA359192090 | DNAH5 | c.10631A>G (p.Asn3544Ser) c.10586A>G (p.Asn3529Ser) c.10739A>G (p.Asn3580Ser) c.9644A>G (p.Asn3215Ser) c.5828A>G (p.Asn1943Ser) c.5381A>G (p.Asn1794Ser) c.4718A>G (p.Asn1573Ser) c.9233A>G (p.Asn3078Ser) | |
5 | g.13753474T>G | CA359192087 | DNAH5 | c.10631A>C (p.Asn3544Thr) c.10586A>C (p.Asn3529Thr) c.10739A>C (p.Asn3580Thr) c.9644A>C (p.Asn3215Thr) c.5828A>C (p.Asn1943Thr) c.5381A>C (p.Asn1794Thr) c.4718A>C (p.Asn1573Thr) c.9233A>C (p.Asn3078Thr) | |
5 | g.13753475T>A | CA359192094 | DNAH5 | c.10630A>T (p.Asn3544Tyr) c.10585A>T (p.Asn3529Tyr) c.10738A>T (p.Asn3580Tyr) c.9643A>T (p.Asn3215Tyr) c.5827A>T (p.Asn1943Tyr) c.5380A>T (p.Asn1794Tyr) c.4717A>T (p.Asn1573Tyr) c.9232A>T (p.Asn3078Tyr) | |
5 | g.13753475T>C | CA359192092 | DNAH5 | c.10630A>G (p.Asn3544Asp) c.10585A>G (p.Asn3529Asp) c.10738A>G (p.Asn3580Asp) c.9643A>G (p.Asn3215Asp) c.5827A>G (p.Asn1943Asp) c.5380A>G (p.Asn1794Asp) c.4717A>G (p.Asn1573Asp) c.9232A>G (p.Asn3078Asp) | |
5 | g.13753475T>G | CA359192095 | DNAH5 | c.10630A>C (p.Asn3544His) c.10585A>C (p.Asn3529His) c.10738A>C (p.Asn3580His) c.9643A>C (p.Asn3215His) c.5827A>C (p.Asn1943His) c.5380A>C (p.Asn1794His) c.4717A>C (p.Asn1573His) c.9232A>C (p.Asn3078His) | |
5 | g.13753475_13753477del | CA2765347527 | DNAH5 | c.10628_10630del (p.Leu3543_Asn3544delinsTyr) c.10583_10585del (p.Leu3528_Asn3529delinsTyr) c.10736_10738del (p.Leu3579_Asn3580delinsTyr) c.9641_9643del (p.Leu3214_Asn3215delinsTyr) c.5825_5827del (p.Leu1942_Asn1943delinsTyr) c.5378_5380del (p.Leu1793_Asn1794delinsTyr) c.4715_4717del (p.Leu1572_Asn1573delinsTyr) c.9230_9232del (p.Leu3077_Asn3078delinsTyr) | |
5 | g.13753476T>A | CA359192097 | DNAH5 | c.10629A>T (p.Leu3543Phe) c.10584A>T (p.Leu3528Phe) c.10737A>T (p.Leu3579Phe) c.9642A>T (p.Leu3214Phe) c.5826A>T (p.Leu1942Phe) c.5379A>T (p.Leu1793Phe) c.4716A>T (p.Leu1572Phe) c.9231A>T (p.Leu3077Phe) | |
5 | g.13753476T>C | CA443535955 | DNAH5 | c.10629A>G (p.Leu3543=) c.10584A>G (p.Leu3528=) c.10737A>G (p.Leu3579=) c.9642A>G (p.Leu3214=) c.5826A>G (p.Leu1942=) c.5379A>G (p.Leu1793=) c.4716A>G (p.Leu1572=) c.9231A>G (p.Leu3077=) | |
5 | g.13753476T>G | CA359192099 | DNAH5 | c.10629A>C (p.Leu3543Phe) c.10584A>C (p.Leu3528Phe) c.10737A>C (p.Leu3579Phe) c.9642A>C (p.Leu3214Phe) c.5826A>C (p.Leu1942Phe) c.5379A>C (p.Leu1793Phe) c.4716A>C (p.Leu1572Phe) c.9231A>C (p.Leu3077Phe) | |
5 | g.13753477A>C | CA359192101 | DNAH5 | c.10628T>G (p.Leu3543Ter) c.10583T>G (p.Leu3528Ter) c.10736T>G (p.Leu3579Ter) c.9641T>G (p.Leu3214Ter) c.5825T>G (p.Leu1942Ter) c.5378T>G (p.Leu1793Ter) c.4715T>G (p.Leu1572Ter) c.9230T>G (p.Leu3077Ter) | |
5 | g.13753477A>G | CA359192104 | DNAH5 | c.10628T>C (p.Leu3543Ser) c.10583T>C (p.Leu3528Ser) c.10736T>C (p.Leu3579Ser) c.9641T>C (p.Leu3214Ser) c.5825T>C (p.Leu1942Ser) c.5378T>C (p.Leu1793Ser) c.4715T>C (p.Leu1572Ser) c.9230T>C (p.Leu3077Ser) | |
5 | g.13753477A>T | CA359192103 | DNAH5 | c.10628T>A (p.Leu3543Ter) c.10583T>A (p.Leu3528Ter) c.10736T>A (p.Leu3579Ter) c.9641T>A (p.Leu3214Ter) c.5825T>A (p.Leu1942Ter) c.5378T>A (p.Leu1793Ter) c.4715T>A (p.Leu1572Ter) c.9230T>A (p.Leu3077Ter) | gnomAD v4 |
5 | g.13753478A= | CA1528423527 | DNAH5 | c.10627T= (p.Leu3543=) c.10582T= (p.Leu3528=) c.10735T= (p.Leu3579=) c.9640T= (p.Leu3214=) c.5824T= (p.Leu1942=) c.5377T= (p.Leu1793=) c.4714T= (p.Leu1572=) c.9229T= (p.Leu3077=) | |
5 | g.13753478A>C | CA359192106 | DNAH5 | c.10627T>G (p.Leu3543Val) c.10582T>G (p.Leu3528Val) c.10735T>G (p.Leu3579Val) c.9640T>G (p.Leu3214Val) c.5824T>G (p.Leu1942Val) c.5377T>G (p.Leu1793Val) c.4714T>G (p.Leu1572Val) c.9229T>G (p.Leu3077Val) | |
5 | g.13753478A>G | CA3202167 | DNAH5 | c.10627T>C (p.Leu3543=) c.10582T>C (p.Leu3528=) c.10735T>C (p.Leu3579=) c.9640T>C (p.Leu3214=) c.5824T>C (p.Leu1942=) c.5377T>C (p.Leu1793=) c.4714T>C (p.Leu1572=) c.9229T>C (p.Leu3077=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753478A>T | CA359192108 | DNAH5 | c.10627T>A (p.Leu3543Ile) c.10582T>A (p.Leu3528Ile) c.10735T>A (p.Leu3579Ile) c.9640T>A (p.Leu3214Ile) c.5824T>A (p.Leu1942Ile) c.5377T>A (p.Leu1793Ile) c.4714T>A (p.Leu1572Ile) c.9229T>A (p.Leu3077Ile) | |
5 | g.13753479C>A | CA443535956 | DNAH5 | c.10626G>T (p.Leu3542=) c.10581G>T (p.Leu3527=) c.10734G>T (p.Leu3578=) c.9639G>T (p.Leu3213=) c.5823G>T (p.Leu1941=) c.5376G>T (p.Leu1792=) c.4713G>T (p.Leu1571=) c.9228G>T (p.Leu3076=) | |
5 | g.13753479C= | CA1528423528 | DNAH5 | c.10626G= (p.Leu3542=) c.10581G= (p.Leu3527=) c.10734G= (p.Leu3578=) c.9639G= (p.Leu3213=) c.5823G= (p.Leu1941=) c.5376G= (p.Leu1792=) c.4713G= (p.Leu1571=) c.9228G= (p.Leu3076=) | |
5 | g.13753479C>G | CA443535957 | DNAH5 | c.10626G>C (p.Leu3542=) c.10581G>C (p.Leu3527=) c.10734G>C (p.Leu3578=) c.9639G>C (p.Leu3213=) c.5823G>C (p.Leu1941=) c.5376G>C (p.Leu1792=) c.4713G>C (p.Leu1571=) c.9228G>C (p.Leu3076=) | |
5 | g.13753479C>T | CA443535958 | DNAH5 | c.10626G>A (p.Leu3542=) c.10581G>A (p.Leu3527=) c.10734G>A (p.Leu3578=) c.9639G>A (p.Leu3213=) c.5823G>A (p.Leu1941=) c.5376G>A (p.Leu1792=) c.4713G>A (p.Leu1571=) c.9228G>A (p.Leu3076=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753480A>C | CA359192111 | DNAH5 | c.10625T>G (p.Leu3542Arg) c.10580T>G (p.Leu3527Arg) c.10733T>G (p.Leu3578Arg) c.9638T>G (p.Leu3213Arg) c.5822T>G (p.Leu1941Arg) c.5375T>G (p.Leu1792Arg) c.4712T>G (p.Leu1571Arg) c.9227T>G (p.Leu3076Arg) | |
5 | g.13753480A>G | CA359192112 | DNAH5 | c.10625T>C (p.Leu3542Pro) c.10580T>C (p.Leu3527Pro) c.10733T>C (p.Leu3578Pro) c.9638T>C (p.Leu3213Pro) c.5822T>C (p.Leu1941Pro) c.5375T>C (p.Leu1792Pro) c.4712T>C (p.Leu1571Pro) c.9227T>C (p.Leu3076Pro) | |
5 | g.13753480A>T | CA359192113 | DNAH5 | c.10625T>A (p.Leu3542Gln) c.10580T>A (p.Leu3527Gln) c.10733T>A (p.Leu3578Gln) c.9638T>A (p.Leu3213Gln) c.5822T>A (p.Leu1941Gln) c.5375T>A (p.Leu1792Gln) c.4712T>A (p.Leu1571Gln) c.9227T>A (p.Leu3076Gln) | |
5 | g.13753481G>A | CA443535960 | DNAH5 | c.10624C>T (p.Leu3542=) c.10579C>T (p.Leu3527=) c.10732C>T (p.Leu3578=) c.9637C>T (p.Leu3213=) c.5821C>T (p.Leu1941=) c.5374C>T (p.Leu1792=) c.4711C>T (p.Leu1571=) c.9226C>T (p.Leu3076=) | COSMIC |
5 | g.13753481G>C | CA359192115 | DNAH5 | c.10624C>G (p.Leu3542Val) c.10579C>G (p.Leu3527Val) c.10732C>G (p.Leu3578Val) c.9637C>G (p.Leu3213Val) c.5821C>G (p.Leu1941Val) c.5374C>G (p.Leu1792Val) c.4711C>G (p.Leu1571Val) c.9226C>G (p.Leu3076Val) | |
5 | g.13753481G= | CA1528423529 | DNAH5 | c.10624C= (p.Leu3542=) c.10579C= (p.Leu3527=) c.10732C= (p.Leu3578=) c.9637C= (p.Leu3213=) c.5821C= (p.Leu1941=) c.5374C= (p.Leu1792=) c.4711C= (p.Leu1571=) c.9226C= (p.Leu3076=) | |
5 | g.13753481G>T | CA359192117 | DNAH5 | c.10624C>A (p.Leu3542Met) c.10579C>A (p.Leu3527Met) c.10732C>A (p.Leu3578Met) c.9637C>A (p.Leu3213Met) c.5821C>A (p.Leu1941Met) c.5374C>A (p.Leu1792Met) c.4711C>A (p.Leu1571Met) c.9226C>A (p.Leu3076Met) | dbSNP gnomAD v4 |
5 | g.13753482A>C | CA443535963 | DNAH5 | c.10623T>G (p.Leu3541=) c.10578T>G (p.Leu3526=) c.10731T>G (p.Leu3577=) c.9636T>G (p.Leu3212=) c.5820T>G (p.Leu1940=) c.5373T>G (p.Leu1791=) c.4710T>G (p.Leu1570=) c.9225T>G (p.Leu3075=) | |
5 | g.13753482A>G | CA443535962 | DNAH5 | c.10623T>C (p.Leu3541=) c.10578T>C (p.Leu3526=) c.10731T>C (p.Leu3577=) c.9636T>C (p.Leu3212=) c.5820T>C (p.Leu1940=) c.5373T>C (p.Leu1791=) c.4710T>C (p.Leu1570=) c.9225T>C (p.Leu3075=) | |
5 | g.13753482A>T | CA443535961 | DNAH5 | c.10623T>A (p.Leu3541=) c.10578T>A (p.Leu3526=) c.10731T>A (p.Leu3577=) c.9636T>A (p.Leu3212=) c.5820T>A (p.Leu1940=) c.5373T>A (p.Leu1791=) c.4710T>A (p.Leu1570=) c.9225T>A (p.Leu3075=) | |
5 | g.13753483A>C | CA359192119 | DNAH5 | c.10622T>G (p.Leu3541Arg) c.10577T>G (p.Leu3526Arg) c.10730T>G (p.Leu3577Arg) c.9635T>G (p.Leu3212Arg) c.5819T>G (p.Leu1940Arg) c.5372T>G (p.Leu1791Arg) c.4709T>G (p.Leu1570Arg) c.9224T>G (p.Leu3075Arg) | |
5 | g.13753483A>G | CA359192120 | DNAH5 | c.10622T>C (p.Leu3541Pro) c.10577T>C (p.Leu3526Pro) c.10730T>C (p.Leu3577Pro) c.9635T>C (p.Leu3212Pro) c.5819T>C (p.Leu1940Pro) c.5372T>C (p.Leu1791Pro) c.4709T>C (p.Leu1570Pro) c.9224T>C (p.Leu3075Pro) | |
5 | g.13753483A>T | CA359192122 | DNAH5 | c.10622T>A (p.Leu3541His) c.10577T>A (p.Leu3526His) c.10730T>A (p.Leu3577His) c.9635T>A (p.Leu3212His) c.5819T>A (p.Leu1940His) c.5372T>A (p.Leu1791His) c.4709T>A (p.Leu1570His) c.9224T>A (p.Leu3075His) | |
5 | g.13753484G>A | CA359192127 | DNAH5 | c.10621C>T (p.Leu3541Phe) c.10576C>T (p.Leu3526Phe) c.10729C>T (p.Leu3577Phe) c.9634C>T (p.Leu3212Phe) c.5818C>T (p.Leu1940Phe) c.5371C>T (p.Leu1791Phe) c.4708C>T (p.Leu1570Phe) c.9223C>T (p.Leu3075Phe) | dbSNP gnomAD v4 |
5 | g.13753484G>C | CA359192126 | DNAH5 | c.10621C>G (p.Leu3541Val) c.10576C>G (p.Leu3526Val) c.10729C>G (p.Leu3577Val) c.9634C>G (p.Leu3212Val) c.5818C>G (p.Leu1940Val) c.5371C>G (p.Leu1791Val) c.4708C>G (p.Leu1570Val) c.9223C>G (p.Leu3075Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753484G= | CA1528423530 | DNAH5 | c.10621C= (p.Leu3541=) c.10576C= (p.Leu3526=) c.10729C= (p.Leu3577=) c.9634C= (p.Leu3212=) c.5818C= (p.Leu1940=) c.5371C= (p.Leu1791=) c.4708C= (p.Leu1570=) c.9223C= (p.Leu3075=) | |
5 | g.13753484G>T | CA359192124 | DNAH5 | c.10621C>A (p.Leu3541Ile) c.10576C>A (p.Leu3526Ile) c.10729C>A (p.Leu3577Ile) c.9634C>A (p.Leu3212Ile) c.5818C>A (p.Leu1940Ile) c.5371C>A (p.Leu1791Ile) c.4708C>A (p.Leu1570Ile) c.9223C>A (p.Leu3075Ile) | |
5 | g.13753485A= | CA1528423531 | DNAH5 | c.10620T= (p.Asp3540=) c.10575T= (p.Asp3525=) c.10728T= (p.Asp3576=) c.9633T= (p.Asp3211=) c.5817T= (p.Asp1939=) c.5370T= (p.Asp1790=) c.4707T= (p.Asp1569=) c.9222T= (p.Asp3074=) | |
5 | g.13753485A>C | CA359192128 | DNAH5 | c.10620T>G (p.Asp3540Glu) c.10575T>G (p.Asp3525Glu) c.10728T>G (p.Asp3576Glu) c.9633T>G (p.Asp3211Glu) c.5817T>G (p.Asp1939Glu) c.5370T>G (p.Asp1790Glu) c.4707T>G (p.Asp1569Glu) c.9222T>G (p.Asp3074Glu) | |
5 | g.13753485A>G | CA443535967 | DNAH5 | c.10620T>C (p.Asp3540=) c.10575T>C (p.Asp3525=) c.10728T>C (p.Asp3576=) c.9633T>C (p.Asp3211=) c.5817T>C (p.Asp1939=) c.5370T>C (p.Asp1790=) c.4707T>C (p.Asp1569=) c.9222T>C (p.Asp3074=) | |
5 | g.13753485A>T | CA359192130 | DNAH5 | c.10620T>A (p.Asp3540Glu) c.10575T>A (p.Asp3525Glu) c.10728T>A (p.Asp3576Glu) c.9633T>A (p.Asp3211Glu) c.5817T>A (p.Asp1939Glu) c.5370T>A (p.Asp1790Glu) c.4707T>A (p.Asp1569Glu) c.9222T>A (p.Asp3074Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753486T>A | CA359192131 | DNAH5 | c.10619A>T (p.Asp3540Val) c.10574A>T (p.Asp3525Val) c.10727A>T (p.Asp3576Val) c.9632A>T (p.Asp3211Val) c.5816A>T (p.Asp1939Val) c.5369A>T (p.Asp1790Val) c.4706A>T (p.Asp1569Val) c.9221A>T (p.Asp3074Val) | |
5 | g.13753486T>C | CA359192133 | DNAH5 | c.10619A>G (p.Asp3540Gly) c.10574A>G (p.Asp3525Gly) c.10727A>G (p.Asp3576Gly) c.9632A>G (p.Asp3211Gly) c.5816A>G (p.Asp1939Gly) c.5369A>G (p.Asp1790Gly) c.4706A>G (p.Asp1569Gly) c.9221A>G (p.Asp3074Gly) | dbSNP gnomAD v4 |
5 | g.13753486T>G | CA359192135 | DNAH5 | c.10619A>C (p.Asp3540Ala) c.10574A>C (p.Asp3525Ala) c.10727A>C (p.Asp3576Ala) c.9632A>C (p.Asp3211Ala) c.5816A>C (p.Asp1939Ala) c.5369A>C (p.Asp1790Ala) c.4706A>C (p.Asp1569Ala) c.9221A>C (p.Asp3074Ala) | ClinVar dbSNP |
5 | g.13753486T= | CA1528423532 | DNAH5 | c.10619A= (p.Asp3540=) c.10574A= (p.Asp3525=) c.10727A= (p.Asp3576=) c.9632A= (p.Asp3211=) c.5816A= (p.Asp1939=) c.5369A= (p.Asp1790=) c.4706A= (p.Asp1569=) c.9221A= (p.Asp3074=) | |
5 | g.13753487C>A | CA359192137 | DNAH5 | c.10618G>T (p.Asp3540Tyr) c.10573G>T (p.Asp3525Tyr) c.10726G>T (p.Asp3576Tyr) c.9631G>T (p.Asp3211Tyr) c.5815G>T (p.Asp1939Tyr) c.5368G>T (p.Asp1790Tyr) c.4705G>T (p.Asp1569Tyr) c.9220G>T (p.Asp3074Tyr) | |
5 | g.13753487C= | CA1528423533 | DNAH5 | c.10618G= (p.Asp3540=) c.10573G= (p.Asp3525=) c.10726G= (p.Asp3576=) c.9631G= (p.Asp3211=) c.5815G= (p.Asp1939=) c.5368G= (p.Asp1790=) c.4705G= (p.Asp1569=) c.9220G= (p.Asp3074=) | |
5 | g.13753487C>G | CA3202168 | DNAH5 | c.10618G>C (p.Asp3540His) c.10573G>C (p.Asp3525His) c.10726G>C (p.Asp3576His) c.9631G>C (p.Asp3211His) c.5815G>C (p.Asp1939His) c.5368G>C (p.Asp1790His) c.4705G>C (p.Asp1569His) c.9220G>C (p.Asp3074His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753487C>T | CA359192138 | DNAH5 | c.10618G>A (p.Asp3540Asn) c.10573G>A (p.Asp3525Asn) c.10726G>A (p.Asp3576Asn) c.9631G>A (p.Asp3211Asn) c.5815G>A (p.Asp1939Asn) c.5368G>A (p.Asp1790Asn) c.4705G>A (p.Asp1569Asn) c.9220G>A (p.Asp3074Asn) | COSMIC |
5 | g.13753488A>C | CA443535970 | DNAH5 | c.10617T>G (p.Arg3539=) c.10572T>G (p.Arg3524=) c.10725T>G (p.Arg3575=) c.9630T>G (p.Arg3210=) c.5814T>G (p.Arg1938=) c.5367T>G (p.Arg1789=) c.4704T>G (p.Arg1568=) c.9219T>G (p.Arg3073=) | gnomAD v4 |
5 | g.13753488A>G | CA443535971 | DNAH5 | c.10617T>C (p.Arg3539=) c.10572T>C (p.Arg3524=) c.10725T>C (p.Arg3575=) c.9630T>C (p.Arg3210=) c.5814T>C (p.Arg1938=) c.5367T>C (p.Arg1789=) c.4704T>C (p.Arg1568=) c.9219T>C (p.Arg3073=) | gnomAD v4 |
5 | g.13753488A>T | CA443535973 | DNAH5 | c.10617T>A (p.Arg3539=) c.10572T>A (p.Arg3524=) c.10725T>A (p.Arg3575=) c.9630T>A (p.Arg3210=) c.5814T>A (p.Arg1938=) c.5367T>A (p.Arg1789=) c.4704T>A (p.Arg1568=) c.9219T>A (p.Arg3073=) | |
5 | g.13753489C>A | CA359192140 | DNAH5 | c.10616G>T (p.Arg3539Leu) c.10571G>T (p.Arg3524Leu) c.10724G>T (p.Arg3575Leu) c.9629G>T (p.Arg3210Leu) c.5813G>T (p.Arg1938Leu) c.5366G>T (p.Arg1789Leu) c.4703G>T (p.Arg1568Leu) c.9218G>T (p.Arg3073Leu) | |
5 | g.13753489C= | CA1528423534 | DNAH5 | c.10616G= (p.Arg3539=) c.10571G= (p.Arg3524=) c.10724G= (p.Arg3575=) c.9629G= (p.Arg3210=) c.5813G= (p.Arg1938=) c.5366G= (p.Arg1789=) c.4703G= (p.Arg1568=) c.9218G= (p.Arg3073=) | |
5 | g.13753489C>G | CA359192142 | DNAH5 | c.10616G>C (p.Arg3539Pro) c.10571G>C (p.Arg3524Pro) c.10724G>C (p.Arg3575Pro) c.9629G>C (p.Arg3210Pro) c.5813G>C (p.Arg1938Pro) c.5366G>C (p.Arg1789Pro) c.4703G>C (p.Arg1568Pro) c.9218G>C (p.Arg3073Pro) | ClinVar gnomAD v4 |
5 | g.13753489C>T | CA337718 | DNAH5 | c.10616G>A (p.Arg3539His) c.10571G>A (p.Arg3524His) c.10724G>A (p.Arg3575His) c.9629G>A (p.Arg3210His) c.5813G>A (p.Arg1938His) c.5366G>A (p.Arg1789His) c.4703G>A (p.Arg1568His) c.9218G>A (p.Arg3073His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753490G>A | CA359192148 | DNAH5 | c.10615C>T (p.Arg3539Cys) c.10570C>T (p.Arg3524Cys) c.10723C>T (p.Arg3575Cys) c.9628C>T (p.Arg3210Cys) c.5812C>T (p.Arg1938Cys) c.5365C>T (p.Arg1789Cys) c.4702C>T (p.Arg1568Cys) c.9217C>T (p.Arg3073Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753490G>C | CA359192146 | DNAH5 | c.10615C>G (p.Arg3539Gly) c.10570C>G (p.Arg3524Gly) c.10723C>G (p.Arg3575Gly) c.9628C>G (p.Arg3210Gly) c.5812C>G (p.Arg1938Gly) c.5365C>G (p.Arg1789Gly) c.4702C>G (p.Arg1568Gly) c.9217C>G (p.Arg3073Gly) | |
5 | g.13753490G= | CA1528423535 | DNAH5 | c.10615C= (p.Arg3539=) c.10570C= (p.Arg3524=) c.10723C= (p.Arg3575=) c.9628C= (p.Arg3210=) c.5812C= (p.Arg1938=) c.5365C= (p.Arg1789=) c.4702C= (p.Arg1568=) c.9217C= (p.Arg3073=) | |
5 | g.13753490G>T | CA359192145 | DNAH5 | c.10615C>A (p.Arg3539Ser) c.10570C>A (p.Arg3524Ser) c.10723C>A (p.Arg3575Ser) c.9628C>A (p.Arg3210Ser) c.5812C>A (p.Arg1938Ser) c.5365C>A (p.Arg1789Ser) c.4702C>A (p.Arg1568Ser) c.9217C>A (p.Arg3073Ser) | |
5 | g.13753491A>C | CA359192150 | DNAH5 | c.10614T>G (p.Phe3538Leu) c.10569T>G (p.Phe3523Leu) c.10722T>G (p.Phe3574Leu) c.9627T>G (p.Phe3209Leu) c.5811T>G (p.Phe1937Leu) c.5364T>G (p.Phe1788Leu) c.4701T>G (p.Phe1567Leu) c.9216T>G (p.Phe3072Leu) | |
5 | g.13753491A>G | CA443535975 | DNAH5 | c.10614T>C (p.Phe3538=) c.10569T>C (p.Phe3523=) c.10722T>C (p.Phe3574=) c.9627T>C (p.Phe3209=) c.5811T>C (p.Phe1937=) c.5364T>C (p.Phe1788=) c.4701T>C (p.Phe1567=) c.9216T>C (p.Phe3072=) | |
5 | g.13753491A>T | CA359192151 | DNAH5 | c.10614T>A (p.Phe3538Leu) c.10569T>A (p.Phe3523Leu) c.10722T>A (p.Phe3574Leu) c.9627T>A (p.Phe3209Leu) c.5811T>A (p.Phe1937Leu) c.5364T>A (p.Phe1788Leu) c.4701T>A (p.Phe1567Leu) c.9216T>A (p.Phe3072Leu) | |
5 | g.13753492A>C | CA359192153 | DNAH5 | c.10613T>G (p.Phe3538Cys) c.10568T>G (p.Phe3523Cys) c.10721T>G (p.Phe3574Cys) c.9626T>G (p.Phe3209Cys) c.5810T>G (p.Phe1937Cys) c.5363T>G (p.Phe1788Cys) c.4700T>G (p.Phe1567Cys) c.9215T>G (p.Phe3072Cys) | COSMIC |
5 | g.13753492A>G | CA359192155 | DNAH5 | c.10613T>C (p.Phe3538Ser) c.10568T>C (p.Phe3523Ser) c.10721T>C (p.Phe3574Ser) c.9626T>C (p.Phe3209Ser) c.5810T>C (p.Phe1937Ser) c.5363T>C (p.Phe1788Ser) c.4700T>C (p.Phe1567Ser) c.9215T>C (p.Phe3072Ser) | |
5 | g.13753492A>T | CA359192156 | DNAH5 | c.10613T>A (p.Phe3538Tyr) c.10568T>A (p.Phe3523Tyr) c.10721T>A (p.Phe3574Tyr) c.9626T>A (p.Phe3209Tyr) c.5810T>A (p.Phe1937Tyr) c.5363T>A (p.Phe1788Tyr) c.4700T>A (p.Phe1567Tyr) c.9215T>A (p.Phe3072Tyr) | |
5 | g.13753493A>C | CA359192162 | DNAH5 | c.10612T>G (p.Phe3538Val) c.10567T>G (p.Phe3523Val) c.10720T>G (p.Phe3574Val) c.9625T>G (p.Phe3209Val) c.5809T>G (p.Phe1937Val) c.5362T>G (p.Phe1788Val) c.4699T>G (p.Phe1567Val) c.9214T>G (p.Phe3072Val) | COSMIC |
5 | g.13753493A>G | CA359192161 | DNAH5 | c.10612T>C (p.Phe3538Leu) c.10567T>C (p.Phe3523Leu) c.10720T>C (p.Phe3574Leu) c.9625T>C (p.Phe3209Leu) c.5809T>C (p.Phe1937Leu) c.5362T>C (p.Phe1788Leu) c.4699T>C (p.Phe1567Leu) c.9214T>C (p.Phe3072Leu) | |
5 | g.13753493A>T | CA359192159 | DNAH5 | c.10612T>A (p.Phe3538Ile) c.10567T>A (p.Phe3523Ile) c.10720T>A (p.Phe3574Ile) c.9625T>A (p.Phe3209Ile) c.5809T>A (p.Phe1937Ile) c.5362T>A (p.Phe1788Ile) c.4699T>A (p.Phe1567Ile) c.9214T>A (p.Phe3072Ile) | |
5 | g.13753494C>A | CA359192164 | DNAH5 | c.10611G>T (p.Glu3537Asp) c.10566G>T (p.Glu3522Asp) c.10719G>T (p.Glu3573Asp) c.9624G>T (p.Glu3208Asp) c.5808G>T (p.Glu1936Asp) c.5361G>T (p.Glu1787Asp) c.4698G>T (p.Glu1566Asp) c.9213G>T (p.Glu3071Asp) | COSMIC |
5 | g.13753494C= | CA1528423536 | DNAH5 | c.10611G= (p.Glu3537=) c.10566G= (p.Glu3522=) c.10719G= (p.Glu3573=) c.9624G= (p.Glu3208=) c.5808G= (p.Glu1936=) c.5361G= (p.Glu1787=) c.4698G= (p.Glu1566=) c.9213G= (p.Glu3071=) | |
5 | g.13753494C>G | CA359192166 | DNAH5 | c.10611G>C (p.Glu3537Asp) c.10566G>C (p.Glu3522Asp) c.10719G>C (p.Glu3573Asp) c.9624G>C (p.Glu3208Asp) c.5808G>C (p.Glu1936Asp) c.5361G>C (p.Glu1787Asp) c.4698G>C (p.Glu1566Asp) c.9213G>C (p.Glu3071Asp) | |
5 | g.13753494C>T | CA3202169 | DNAH5 | c.10611G>A (p.Glu3537=) c.10566G>A (p.Glu3522=) c.10719G>A (p.Glu3573=) c.9624G>A (p.Glu3208=) c.5808G>A (p.Glu1936=) c.5361G>A (p.Glu1787=) c.4698G>A (p.Glu1566=) c.9213G>A (p.Glu3071=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753495T>A | CA359192167 | DNAH5 | c.10610A>T (p.Glu3537Val) c.10565A>T (p.Glu3522Val) c.10718A>T (p.Glu3573Val) c.9623A>T (p.Glu3208Val) c.5807A>T (p.Glu1936Val) c.5360A>T (p.Glu1787Val) c.4697A>T (p.Glu1566Val) c.9212A>T (p.Glu3071Val) | |
5 | g.13753495T>C | CA359192169 | DNAH5 | c.10610A>G (p.Glu3537Gly) c.10565A>G (p.Glu3522Gly) c.10718A>G (p.Glu3573Gly) c.9623A>G (p.Glu3208Gly) c.5807A>G (p.Glu1936Gly) c.5360A>G (p.Glu1787Gly) c.4697A>G (p.Glu1566Gly) c.9212A>G (p.Glu3071Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753495T>G | CA359192171 | DNAH5 | c.10610A>C (p.Glu3537Ala) c.10565A>C (p.Glu3522Ala) c.10718A>C (p.Glu3573Ala) c.9623A>C (p.Glu3208Ala) c.5807A>C (p.Glu1936Ala) c.5360A>C (p.Glu1787Ala) c.4697A>C (p.Glu1566Ala) c.9212A>C (p.Glu3071Ala) | |
5 | g.13753495T= | CA1528423537 | DNAH5 | c.10610A= (p.Glu3537=) c.10565A= (p.Glu3522=) c.10718A= (p.Glu3573=) c.9623A= (p.Glu3208=) c.5807A= (p.Glu1936=) c.5360A= (p.Glu1787=) c.4697A= (p.Glu1566=) c.9212A= (p.Glu3071=) | |
5 | g.13753496C>A | CA359192173 | DNAH5 | c.10609G>T (p.Glu3537Ter) c.10564G>T (p.Glu3522Ter) c.10717G>T (p.Glu3573Ter) c.9622G>T (p.Glu3208Ter) c.5806G>T (p.Glu1936Ter) c.5359G>T (p.Glu1787Ter) c.4696G>T (p.Glu1566Ter) c.9211G>T (p.Glu3071Ter) | |
5 | g.13753496C= | CA1528423538 | DNAH5 | c.10609G= (p.Glu3537=) c.10564G= (p.Glu3522=) c.10717G= (p.Glu3573=) c.9622G= (p.Glu3208=) c.5806G= (p.Glu1936=) c.5359G= (p.Glu1787=) c.4696G= (p.Glu1566=) c.9211G= (p.Glu3071=) | |
5 | g.13753496C>G | CA359192175 | DNAH5 | c.10609G>C (p.Glu3537Gln) c.10564G>C (p.Glu3522Gln) c.10717G>C (p.Glu3573Gln) c.9622G>C (p.Glu3208Gln) c.5806G>C (p.Glu1936Gln) c.5359G>C (p.Glu1787Gln) c.4696G>C (p.Glu1566Gln) c.9211G>C (p.Glu3071Gln) | |
5 | g.13753496C>T | CA359192174 | DNAH5 | c.10609G>A (p.Glu3537Lys) c.10564G>A (p.Glu3522Lys) c.10717G>A (p.Glu3573Lys) c.9622G>A (p.Glu3208Lys) c.5806G>A (p.Glu1936Lys) c.5359G>A (p.Glu1787Lys) c.4696G>A (p.Glu1566Lys) c.9211G>A (p.Glu3071Lys) | |
5 | g.13753497T>A | CA359192177 | DNAH5 | c.10608A>T (p.Gln3536His) c.10563A>T (p.Gln3521His) c.10716A>T (p.Gln3572His) c.9621A>T (p.Gln3207His) c.5805A>T (p.Gln1935His) c.5358A>T (p.Gln1786His) c.4695A>T (p.Gln1565His) c.9210A>T (p.Gln3070His) | |
5 | g.13753497T>C | CA443535976 | DNAH5 | c.10608A>G (p.Gln3536=) c.10563A>G (p.Gln3521=) c.10716A>G (p.Gln3572=) c.9621A>G (p.Gln3207=) c.5805A>G (p.Gln1935=) c.5358A>G (p.Gln1786=) c.4695A>G (p.Gln1565=) c.9210A>G (p.Gln3070=) | gnomAD v4 |
5 | g.13753497T>G | CA359192178 | DNAH5 | c.10608A>C (p.Gln3536His) c.10563A>C (p.Gln3521His) c.10716A>C (p.Gln3572His) c.9621A>C (p.Gln3207His) c.5805A>C (p.Gln1935His) c.5358A>C (p.Gln1786His) c.4695A>C (p.Gln1565His) c.9210A>C (p.Gln3070His) | gnomAD v4 |
5 | g.13753498del | CA2673270453 | DNAH5 | c.10608del (p.Glu3537SerfsTer7) c.10563del (p.Glu3522SerfsTer7) c.10716del (p.Glu3573SerfsTer7) c.9621del (p.Glu3208SerfsTer7) c.5805del (p.Glu1936SerfsTer7) c.5358del (p.Glu1787SerfsTer7) c.4695del (p.Glu1566SerfsTer7) c.9210del (p.Glu3071SerfsTer7) | gnomAD v4 |
5 | g.13753498_13753502dup | CA557876529 | DNAH5 | c.10604_10608dup (p.Glu3537ThrfsTer9) c.10559_10563dup (p.Glu3522ThrfsTer9) c.10712_10716dup (p.Glu3573ThrfsTer9) c.9617_9621dup (p.Glu3208ThrfsTer9) c.5801_5805dup (p.Glu1936ThrfsTer9) c.5354_5358dup (p.Glu1787ThrfsTer9) c.4691_4695dup (p.Glu1566ThrfsTer9) c.9206_9210dup (p.Glu3071ThrfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753498T>A | CA359192181 | DNAH5 | c.10607A>T (p.Gln3536Leu) c.10562A>T (p.Gln3521Leu) c.10715A>T (p.Gln3572Leu) c.9620A>T (p.Gln3207Leu) c.5804A>T (p.Gln1935Leu) c.5357A>T (p.Gln1786Leu) c.4694A>T (p.Gln1565Leu) c.9209A>T (p.Gln3070Leu) | |
5 | g.13753498T>C | CA359192183 | DNAH5 | c.10607A>G (p.Gln3536Arg) c.10562A>G (p.Gln3521Arg) c.10715A>G (p.Gln3572Arg) c.9620A>G (p.Gln3207Arg) c.5804A>G (p.Gln1935Arg) c.5357A>G (p.Gln1786Arg) c.4694A>G (p.Gln1565Arg) c.9209A>G (p.Gln3070Arg) | |
5 | g.13753498T>G | CA359192184 | DNAH5 | c.10607A>C (p.Gln3536Pro) c.10562A>C (p.Gln3521Pro) c.10715A>C (p.Gln3572Pro) c.9620A>C (p.Gln3207Pro) c.5804A>C (p.Gln1935Pro) c.5357A>C (p.Gln1786Pro) c.4694A>C (p.Gln1565Pro) c.9209A>C (p.Gln3070Pro) | |
5 | g.13753499G>A | CA359192186 | DNAH5 | c.10606C>T (p.Gln3536Ter) c.10561C>T (p.Gln3521Ter) c.10714C>T (p.Gln3572Ter) c.9619C>T (p.Gln3207Ter) c.5803C>T (p.Gln1935Ter) c.5356C>T (p.Gln1786Ter) c.4693C>T (p.Gln1565Ter) c.9208C>T (p.Gln3070Ter) | |
5 | g.13753499G>C | CA359192188 | DNAH5 | c.10606C>G (p.Gln3536Glu) c.10561C>G (p.Gln3521Glu) c.10714C>G (p.Gln3572Glu) c.9619C>G (p.Gln3207Glu) c.5803C>G (p.Gln1935Glu) c.5356C>G (p.Gln1786Glu) c.4693C>G (p.Gln1565Glu) c.9208C>G (p.Gln3070Glu) | gnomAD v4 |
5 | g.13753499G= | CA1528423539 | DNAH5 | c.10606C= (p.Gln3536=) c.10561C= (p.Gln3521=) c.10714C= (p.Gln3572=) c.9619C= (p.Gln3207=) c.5803C= (p.Gln1935=) c.5356C= (p.Gln1786=) c.4693C= (p.Gln1565=) c.9208C= (p.Gln3070=) | |
5 | g.13753499G>T | CA359192190 | DNAH5 | c.10606C>A (p.Gln3536Lys) c.10561C>A (p.Gln3521Lys) c.10714C>A (p.Gln3572Lys) c.9619C>A (p.Gln3207Lys) c.5803C>A (p.Gln1935Lys) c.5356C>A (p.Gln1786Lys) c.4693C>A (p.Gln1565Lys) c.9208C>A (p.Gln3070Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753500G>A | CA443535980 | DNAH5 | c.10605C>T (p.Asn3535=) c.10560C>T (p.Asn3520=) c.10713C>T (p.Asn3571=) c.9618C>T (p.Asn3206=) c.5802C>T (p.Asn1934=) c.5355C>T (p.Asn1785=) c.4692C>T (p.Asn1564=) c.9207C>T (p.Asn3069=) | gnomAD v4 |
5 | g.13753500G>C | CA359192192 | DNAH5 | c.10605C>G (p.Asn3535Lys) c.10560C>G (p.Asn3520Lys) c.10713C>G (p.Asn3571Lys) c.9618C>G (p.Asn3206Lys) c.5802C>G (p.Asn1934Lys) c.5355C>G (p.Asn1785Lys) c.4692C>G (p.Asn1564Lys) c.9207C>G (p.Asn3069Lys) | |
5 | g.13753500G>T | CA359192193 | DNAH5 | c.10605C>A (p.Asn3535Lys) c.10560C>A (p.Asn3520Lys) c.10713C>A (p.Asn3571Lys) c.9618C>A (p.Asn3206Lys) c.5802C>A (p.Asn1934Lys) c.5355C>A (p.Asn1785Lys) c.4692C>A (p.Asn1564Lys) c.9207C>A (p.Asn3069Lys) | |
5 | g.13753501T>A | CA359192199 | DNAH5 | c.10604A>T (p.Asn3535Ile) c.10559A>T (p.Asn3520Ile) c.10712A>T (p.Asn3571Ile) c.9617A>T (p.Asn3206Ile) c.5801A>T (p.Asn1934Ile) c.5354A>T (p.Asn1785Ile) c.4691A>T (p.Asn1564Ile) c.9206A>T (p.Asn3069Ile) | |
5 | g.13753501T>C | CA359192197 | DNAH5 | c.10604A>G (p.Asn3535Ser) c.10559A>G (p.Asn3520Ser) c.10712A>G (p.Asn3571Ser) c.9617A>G (p.Asn3206Ser) c.5801A>G (p.Asn1934Ser) c.5354A>G (p.Asn1785Ser) c.4691A>G (p.Asn1564Ser) c.9206A>G (p.Asn3069Ser) | |
5 | g.13753501T>G | CA359192195 | DNAH5 | c.10604A>C (p.Asn3535Thr) c.10559A>C (p.Asn3520Thr) c.10712A>C (p.Asn3571Thr) c.9617A>C (p.Asn3206Thr) c.5801A>C (p.Asn1934Thr) c.5354A>C (p.Asn1785Thr) c.4691A>C (p.Asn1564Thr) c.9206A>C (p.Asn3069Thr) | |
5 | g.13753502T>A | CA359192201 | DNAH5 | c.10603A>T (p.Asn3535Tyr) c.10558A>T (p.Asn3520Tyr) c.10711A>T (p.Asn3571Tyr) c.9616A>T (p.Asn3206Tyr) c.5800A>T (p.Asn1934Tyr) c.5353A>T (p.Asn1785Tyr) c.4690A>T (p.Asn1564Tyr) c.9205A>T (p.Asn3069Tyr) | |
5 | g.13753502T>C | CA359192204 | DNAH5 | c.10603A>G (p.Asn3535Asp) c.10558A>G (p.Asn3520Asp) c.10711A>G (p.Asn3571Asp) c.9616A>G (p.Asn3206Asp) c.5800A>G (p.Asn1934Asp) c.5353A>G (p.Asn1785Asp) c.4690A>G (p.Asn1564Asp) c.9205A>G (p.Asn3069Asp) | |
5 | g.13753502T>G | CA359192202 | DNAH5 | c.10603A>C (p.Asn3535His) c.10558A>C (p.Asn3520His) c.10711A>C (p.Asn3571His) c.9616A>C (p.Asn3206His) c.5800A>C (p.Asn1934His) c.5353A>C (p.Asn1785His) c.4690A>C (p.Asn1564His) c.9205A>C (p.Asn3069His) | |
5 | g.13753503A>C | CA359192206 | DNAH5 | c.10602T>G (p.Phe3534Leu) c.10557T>G (p.Phe3519Leu) c.10710T>G (p.Phe3570Leu) c.9615T>G (p.Phe3205Leu) c.5799T>G (p.Phe1933Leu) c.5352T>G (p.Phe1784Leu) c.4689T>G (p.Phe1563Leu) c.9204T>G (p.Phe3068Leu) | |
5 | g.13753503A>G | CA443535983 | DNAH5 | c.10602T>C (p.Phe3534=) c.10557T>C (p.Phe3519=) c.10710T>C (p.Phe3570=) c.9615T>C (p.Phe3205=) c.5799T>C (p.Phe1933=) c.5352T>C (p.Phe1784=) c.4689T>C (p.Phe1563=) c.9204T>C (p.Phe3068=) | |
5 | g.13753503A>T | CA359192208 | DNAH5 | c.10602T>A (p.Phe3534Leu) c.10557T>A (p.Phe3519Leu) c.10710T>A (p.Phe3570Leu) c.9615T>A (p.Phe3205Leu) c.5799T>A (p.Phe1933Leu) c.5352T>A (p.Phe1784Leu) c.4689T>A (p.Phe1563Leu) c.9204T>A (p.Phe3068Leu) | |
5 | g.13753504A>C | CA359192210 | DNAH5 | c.10601T>G (p.Phe3534Cys) c.10556T>G (p.Phe3519Cys) c.10709T>G (p.Phe3570Cys) c.9614T>G (p.Phe3205Cys) c.5798T>G (p.Phe1933Cys) c.5351T>G (p.Phe1784Cys) c.4688T>G (p.Phe1563Cys) c.9203T>G (p.Phe3068Cys) | |
5 | g.13753504A>G | CA359192211 | DNAH5 | c.10601T>C (p.Phe3534Ser) c.10556T>C (p.Phe3519Ser) c.10709T>C (p.Phe3570Ser) c.9614T>C (p.Phe3205Ser) c.5798T>C (p.Phe1933Ser) c.5351T>C (p.Phe1784Ser) c.4688T>C (p.Phe1563Ser) c.9203T>C (p.Phe3068Ser) | |
5 | g.13753504A>T | CA359192213 | DNAH5 | c.10601T>A (p.Phe3534Tyr) c.10556T>A (p.Phe3519Tyr) c.10709T>A (p.Phe3570Tyr) c.9614T>A (p.Phe3205Tyr) c.5798T>A (p.Phe1933Tyr) c.5351T>A (p.Phe1784Tyr) c.4688T>A (p.Phe1563Tyr) c.9203T>A (p.Phe3068Tyr) | |
5 | g.13753505A>C | CA359192215 | DNAH5 | c.10600T>G (p.Phe3534Val) c.10555T>G (p.Phe3519Val) c.10708T>G (p.Phe3570Val) c.9613T>G (p.Phe3205Val) c.5797T>G (p.Phe1933Val) c.5350T>G (p.Phe1784Val) c.4687T>G (p.Phe1563Val) c.9202T>G (p.Phe3068Val) | |
5 | g.13753505A>G | CA359192216 | DNAH5 | c.10600T>C (p.Phe3534Leu) c.10555T>C (p.Phe3519Leu) c.10708T>C (p.Phe3570Leu) c.9613T>C (p.Phe3205Leu) c.5797T>C (p.Phe1933Leu) c.5350T>C (p.Phe1784Leu) c.4687T>C (p.Phe1563Leu) c.9202T>C (p.Phe3068Leu) | |
5 | g.13753505A>T | CA359192218 | DNAH5 | c.10600T>A (p.Phe3534Ile) c.10555T>A (p.Phe3519Ile) c.10708T>A (p.Phe3570Ile) c.9613T>A (p.Phe3205Ile) c.5797T>A (p.Phe1933Ile) c.5350T>A (p.Phe1784Ile) c.4687T>A (p.Phe1563Ile) c.9202T>A (p.Phe3068Ile) | |
5 | g.13753506T>A | CA443535987 | DNAH5 | c.10599A>T (p.Pro3533=) c.10554A>T (p.Pro3518=) c.10707A>T (p.Pro3569=) c.9612A>T (p.Pro3204=) c.5796A>T (p.Pro1932=) c.5349A>T (p.Pro1783=) c.4686A>T (p.Pro1562=) c.9201A>T (p.Pro3067=) | |
5 | g.13753506T>C | CA113919126 | DNAH5 | c.10599A>G (p.Pro3533=) c.10554A>G (p.Pro3518=) c.10707A>G (p.Pro3569=) c.9612A>G (p.Pro3204=) c.5796A>G (p.Pro1932=) c.5349A>G (p.Pro1783=) c.4686A>G (p.Pro1562=) c.9201A>G (p.Pro3067=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753506T>G | CA443535988 | DNAH5 | c.10599A>C (p.Pro3533=) c.10554A>C (p.Pro3518=) c.10707A>C (p.Pro3569=) c.9612A>C (p.Pro3204=) c.5796A>C (p.Pro1932=) c.5349A>C (p.Pro1783=) c.4686A>C (p.Pro1562=) c.9201A>C (p.Pro3067=) | |
5 | g.13753506T= | CA1528423540 | DNAH5 | c.10599A= (p.Pro3533=) c.10554A= (p.Pro3518=) c.10707A= (p.Pro3569=) c.9612A= (p.Pro3204=) c.5796A= (p.Pro1932=) c.5349A= (p.Pro1783=) c.4686A= (p.Pro1562=) c.9201A= (p.Pro3067=) | |
5 | g.13753507G>A | CA359192220 | DNAH5 | c.10598C>T (p.Pro3533Leu) c.10553C>T (p.Pro3518Leu) c.10706C>T (p.Pro3569Leu) c.9611C>T (p.Pro3204Leu) c.5795C>T (p.Pro1932Leu) c.5348C>T (p.Pro1783Leu) c.4685C>T (p.Pro1562Leu) c.9200C>T (p.Pro3067Leu) | COSMIC |
5 | g.13753507G>C | CA359192222 | DNAH5 | c.10598C>G (p.Pro3533Arg) c.10553C>G (p.Pro3518Arg) c.10706C>G (p.Pro3569Arg) c.9611C>G (p.Pro3204Arg) c.5795C>G (p.Pro1932Arg) c.5348C>G (p.Pro1783Arg) c.4685C>G (p.Pro1562Arg) c.9200C>G (p.Pro3067Arg) | gnomAD v4 |
5 | g.13753507G>T | CA359192223 | DNAH5 | c.10598C>A (p.Pro3533Gln) c.10553C>A (p.Pro3518Gln) c.10706C>A (p.Pro3569Gln) c.9611C>A (p.Pro3204Gln) c.5795C>A (p.Pro1932Gln) c.5348C>A (p.Pro1783Gln) c.4685C>A (p.Pro1562Gln) c.9200C>A (p.Pro3067Gln) | |
5 | g.13753508G>A | CA359192228 | DNAH5 | c.10597C>T (p.Pro3533Ser) c.10552C>T (p.Pro3518Ser) c.10705C>T (p.Pro3569Ser) c.9610C>T (p.Pro3204Ser) c.5794C>T (p.Pro1932Ser) c.5347C>T (p.Pro1783Ser) c.4684C>T (p.Pro1562Ser) c.9199C>T (p.Pro3067Ser) | |
5 | g.13753508G>C | CA359192227 | DNAH5 | c.10597C>G (p.Pro3533Ala) c.10552C>G (p.Pro3518Ala) c.10705C>G (p.Pro3569Ala) c.9610C>G (p.Pro3204Ala) c.5794C>G (p.Pro1932Ala) c.5347C>G (p.Pro1783Ala) c.4684C>G (p.Pro1562Ala) c.9199C>G (p.Pro3067Ala) | gnomAD v4 |
5 | g.13753508G>T | CA359192225 | DNAH5 | c.10597C>A (p.Pro3533Thr) c.10552C>A (p.Pro3518Thr) c.10705C>A (p.Pro3569Thr) c.9610C>A (p.Pro3204Thr) c.5794C>A (p.Pro1932Thr) c.5347C>A (p.Pro1783Thr) c.4684C>A (p.Pro1562Thr) c.9199C>A (p.Pro3067Thr) | |
5 | g.13753509A= | CA1528423541 | DNAH5 | c.10596T= (p.Gly3532=) c.10551T= (p.Gly3517=) c.10704T= (p.Gly3568=) c.9609T= (p.Gly3203=) c.5793T= (p.Gly1931=) c.5346T= (p.Gly1782=) c.4683T= (p.Gly1561=) c.9198T= (p.Gly3066=) | |
5 | g.13753509A>C | CA443535992 | DNAH5 | c.10596T>G (p.Gly3532=) c.10551T>G (p.Gly3517=) c.10704T>G (p.Gly3568=) c.9609T>G (p.Gly3203=) c.5793T>G (p.Gly1931=) c.5346T>G (p.Gly1782=) c.4683T>G (p.Gly1561=) c.9198T>G (p.Gly3066=) | |
5 | g.13753509A>G | CA443535996 | DNAH5 | c.10596T>C (p.Gly3532=) c.10551T>C (p.Gly3517=) c.10704T>C (p.Gly3568=) c.9609T>C (p.Gly3203=) c.5793T>C (p.Gly1931=) c.5346T>C (p.Gly1782=) c.4683T>C (p.Gly1561=) c.9198T>C (p.Gly3066=) | dbSNP gnomAD v2 |
5 | g.13753509A>T | CA443535994 | DNAH5 | c.10596T>A (p.Gly3532=) c.10551T>A (p.Gly3517=) c.10704T>A (p.Gly3568=) c.9609T>A (p.Gly3203=) c.5793T>A (p.Gly1931=) c.5346T>A (p.Gly1782=) c.4683T>A (p.Gly1561=) c.9198T>A (p.Gly3066=) | |
5 | g.13753510C>A | CA359192229 | DNAH5 | c.10595G>T (p.Gly3532Val) c.10550G>T (p.Gly3517Val) c.10703G>T (p.Gly3568Val) c.9608G>T (p.Gly3203Val) c.5792G>T (p.Gly1931Val) c.5345G>T (p.Gly1782Val) c.4682G>T (p.Gly1561Val) c.9197G>T (p.Gly3066Val) | |
5 | g.13753510C>G | CA359192230 | DNAH5 | c.10595G>C (p.Gly3532Ala) c.10550G>C (p.Gly3517Ala) c.10703G>C (p.Gly3568Ala) c.9608G>C (p.Gly3203Ala) c.5792G>C (p.Gly1931Ala) c.5345G>C (p.Gly1782Ala) c.4682G>C (p.Gly1561Ala) c.9197G>C (p.Gly3066Ala) | |
5 | g.13753510C>T | CA359192232 | DNAH5 | c.10595G>A (p.Gly3532Asp) c.10550G>A (p.Gly3517Asp) c.10703G>A (p.Gly3568Asp) c.9608G>A (p.Gly3203Asp) c.5792G>A (p.Gly1931Asp) c.5345G>A (p.Gly1782Asp) c.4682G>A (p.Gly1561Asp) c.9197G>A (p.Gly3066Asp) | gnomAD v4 |
5 | g.13753511C>A | CA359192233 | DNAH5 | c.10594G>T (p.Gly3532Cys) c.10549G>T (p.Gly3517Cys) c.10702G>T (p.Gly3568Cys) c.9607G>T (p.Gly3203Cys) c.5791G>T (p.Gly1931Cys) c.5344G>T (p.Gly1782Cys) c.4681G>T (p.Gly1561Cys) c.9196G>T (p.Gly3066Cys) | |
5 | g.13753511C= | CA1528423542 | DNAH5 | c.10594G= (p.Gly3532=) c.10549G= (p.Gly3517=) c.10702G= (p.Gly3568=) c.9607G= (p.Gly3203=) c.5791G= (p.Gly1931=) c.5344G= (p.Gly1782=) c.4681G= (p.Gly1561=) c.9196G= (p.Gly3066=) | |
5 | g.13753511C>G | CA359192235 | DNAH5 | c.10594G>C (p.Gly3532Arg) c.10549G>C (p.Gly3517Arg) c.10702G>C (p.Gly3568Arg) c.9607G>C (p.Gly3203Arg) c.5791G>C (p.Gly1931Arg) c.5344G>C (p.Gly1782Arg) c.4681G>C (p.Gly1561Arg) c.9196G>C (p.Gly3066Arg) | dbSNP gnomAD v4 |
5 | g.13753511C>T | CA359192237 | DNAH5 | c.10594G>A (p.Gly3532Ser) c.10549G>A (p.Gly3517Ser) c.10702G>A (p.Gly3568Ser) c.9607G>A (p.Gly3203Ser) c.5791G>A (p.Gly1931Ser) c.5344G>A (p.Gly1782Ser) c.4681G>A (p.Gly1561Ser) c.9196G>A (p.Gly3066Ser) | |
5 | g.13753512A= | CA1528423543 | DNAH5 | c.10593T= (p.Ser3531=) c.10548T= (p.Ser3516=) c.10701T= (p.Ser3567=) c.9606T= (p.Ser3202=) c.5790T= (p.Ser1930=) c.5343T= (p.Ser1781=) c.4680T= (p.Ser1560=) c.9195T= (p.Ser3065=) | |
5 | g.13753512A>C | CA443536001 | DNAH5 | c.10593T>G (p.Ser3531=) c.10548T>G (p.Ser3516=) c.10701T>G (p.Ser3567=) c.9606T>G (p.Ser3202=) c.5790T>G (p.Ser1930=) c.5343T>G (p.Ser1781=) c.4680T>G (p.Ser1560=) c.9195T>G (p.Ser3065=) | |
5 | g.13753512A>G | CA3202171 | DNAH5 | c.10593T>C (p.Ser3531=) c.10548T>C (p.Ser3516=) c.10701T>C (p.Ser3567=) c.9606T>C (p.Ser3202=) c.5790T>C (p.Ser1930=) c.5343T>C (p.Ser1781=) c.4680T>C (p.Ser1560=) c.9195T>C (p.Ser3065=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753512A>T | CA3202170 | DNAH5 | c.10593T>A (p.Ser3531=) c.10548T>A (p.Ser3516=) c.10701T>A (p.Ser3567=) c.9606T>A (p.Ser3202=) c.5790T>A (p.Ser1930=) c.5343T>A (p.Ser1781=) c.4680T>A (p.Ser1560=) c.9195T>A (p.Ser3065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753513G>A | CA359192241 | DNAH5 | c.10592C>T (p.Ser3531Phe) c.10547C>T (p.Ser3516Phe) c.10700C>T (p.Ser3567Phe) c.9605C>T (p.Ser3202Phe) c.5789C>T (p.Ser1930Phe) c.5342C>T (p.Ser1781Phe) c.4679C>T (p.Ser1560Phe) c.9194C>T (p.Ser3065Phe) | COSMIC |
5 | g.13753513G>C | CA359192242 | DNAH5 | c.10592C>G (p.Ser3531Cys) c.10547C>G (p.Ser3516Cys) c.10700C>G (p.Ser3567Cys) c.9605C>G (p.Ser3202Cys) c.5789C>G (p.Ser1930Cys) c.5342C>G (p.Ser1781Cys) c.4679C>G (p.Ser1560Cys) c.9194C>G (p.Ser3065Cys) | |
5 | g.13753513G= | CA1528423544 | DNAH5 | c.10592C= (p.Ser3531=) c.10547C= (p.Ser3516=) c.10700C= (p.Ser3567=) c.9605C= (p.Ser3202=) c.5789C= (p.Ser1930=) c.5342C= (p.Ser1781=) c.4679C= (p.Ser1560=) c.9194C= (p.Ser3065=) | |
5 | g.13753513G>T | CA359192244 | DNAH5 | c.10592C>A (p.Ser3531Tyr) c.10547C>A (p.Ser3516Tyr) c.10700C>A (p.Ser3567Tyr) c.9605C>A (p.Ser3202Tyr) c.5789C>A (p.Ser1930Tyr) c.5342C>A (p.Ser1781Tyr) c.4679C>A (p.Ser1560Tyr) c.9194C>A (p.Ser3065Tyr) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753514A>C | CA359192249 | DNAH5 | c.10591T>G (p.Ser3531Ala) c.10546T>G (p.Ser3516Ala) c.10699T>G (p.Ser3567Ala) c.9604T>G (p.Ser3202Ala) c.5788T>G (p.Ser1930Ala) c.5341T>G (p.Ser1781Ala) c.4678T>G (p.Ser1560Ala) c.9193T>G (p.Ser3065Ala) | |
5 | g.13753514A>G | CA359192247 | DNAH5 | c.10591T>C (p.Ser3531Pro) c.10546T>C (p.Ser3516Pro) c.10699T>C (p.Ser3567Pro) c.9604T>C (p.Ser3202Pro) c.5788T>C (p.Ser1930Pro) c.5341T>C (p.Ser1781Pro) c.4678T>C (p.Ser1560Pro) c.9193T>C (p.Ser3065Pro) | |
5 | g.13753514A>T | CA359192246 | DNAH5 | c.10591T>A (p.Ser3531Thr) c.10546T>A (p.Ser3516Thr) c.10699T>A (p.Ser3567Thr) c.9604T>A (p.Ser3202Thr) c.5788T>A (p.Ser1930Thr) c.5341T>A (p.Ser1781Thr) c.4678T>A (p.Ser1560Thr) c.9193T>A (p.Ser3065Thr) | |
5 | g.13753515A= | CA1528423545 | DNAH5 | c.10590T= (p.Tyr3530=) c.10545T= (p.Tyr3515=) c.10698T= (p.Tyr3566=) c.9603T= (p.Tyr3201=) c.5787T= (p.Tyr1929=) c.5340T= (p.Tyr1780=) c.4677T= (p.Tyr1559=) c.9192T= (p.Tyr3064=) | |
5 | g.13753515A>C | CA359192251 | DNAH5 | c.10590T>G (p.Tyr3530Ter) c.10545T>G (p.Tyr3515Ter) c.10698T>G (p.Tyr3566Ter) c.9603T>G (p.Tyr3201Ter) c.5787T>G (p.Tyr1929Ter) c.5340T>G (p.Tyr1780Ter) c.4677T>G (p.Tyr1559Ter) c.9192T>G (p.Tyr3064Ter) | |
5 | g.13753515A>G | CA3202172 | DNAH5 | c.10590T>C (p.Tyr3530=) c.10545T>C (p.Tyr3515=) c.10698T>C (p.Tyr3566=) c.9603T>C (p.Tyr3201=) c.5787T>C (p.Tyr1929=) c.5340T>C (p.Tyr1780=) c.4677T>C (p.Tyr1559=) c.9192T>C (p.Tyr3064=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753515A>T | CA359192253 | DNAH5 | c.10590T>A (p.Tyr3530Ter) c.10545T>A (p.Tyr3515Ter) c.10698T>A (p.Tyr3566Ter) c.9603T>A (p.Tyr3201Ter) c.5787T>A (p.Tyr1929Ter) c.5340T>A (p.Tyr1780Ter) c.4677T>A (p.Tyr1559Ter) c.9192T>A (p.Tyr3064Ter) | |
5 | g.13753516T>A | CA359192255 | DNAH5 | c.10589A>T (p.Tyr3530Phe) c.10544A>T (p.Tyr3515Phe) c.10697A>T (p.Tyr3566Phe) c.9602A>T (p.Tyr3201Phe) c.5786A>T (p.Tyr1929Phe) c.5339A>T (p.Tyr1780Phe) c.4676A>T (p.Tyr1559Phe) c.9191A>T (p.Tyr3064Phe) | |
5 | g.13753516T>C | CA359192257 | DNAH5 | c.10589A>G (p.Tyr3530Cys) c.10544A>G (p.Tyr3515Cys) c.10697A>G (p.Tyr3566Cys) c.9602A>G (p.Tyr3201Cys) c.5786A>G (p.Tyr1929Cys) c.5339A>G (p.Tyr1780Cys) c.4676A>G (p.Tyr1559Cys) c.9191A>G (p.Tyr3064Cys) | |
5 | g.13753516T>G | CA359192259 | DNAH5 | c.10589A>C (p.Tyr3530Ser) c.10544A>C (p.Tyr3515Ser) c.10697A>C (p.Tyr3566Ser) c.9602A>C (p.Tyr3201Ser) c.5786A>C (p.Tyr1929Ser) c.5339A>C (p.Tyr1780Ser) c.4676A>C (p.Tyr1559Ser) c.9191A>C (p.Tyr3064Ser) | |
5 | g.13753517A>C | CA359192261 | DNAH5 | c.10588T>G (p.Tyr3530Asp) c.10543T>G (p.Tyr3515Asp) c.10696T>G (p.Tyr3566Asp) c.9601T>G (p.Tyr3201Asp) c.5785T>G (p.Tyr1929Asp) c.5338T>G (p.Tyr1780Asp) c.4675T>G (p.Tyr1559Asp) c.9190T>G (p.Tyr3064Asp) | |
5 | g.13753517A>G | CA359192262 | DNAH5 | c.10588T>C (p.Tyr3530His) c.10543T>C (p.Tyr3515His) c.10696T>C (p.Tyr3566His) c.9601T>C (p.Tyr3201His) c.5785T>C (p.Tyr1929His) c.5338T>C (p.Tyr1780His) c.4675T>C (p.Tyr1559His) c.9190T>C (p.Tyr3064His) | |
5 | g.13753517A>T | CA359192264 | DNAH5 | c.10588T>A (p.Tyr3530Asn) c.10543T>A (p.Tyr3515Asn) c.10696T>A (p.Tyr3566Asn) c.9601T>A (p.Tyr3201Asn) c.5785T>A (p.Tyr1929Asn) c.5338T>A (p.Tyr1780Asn) c.4675T>A (p.Tyr1559Asn) c.9190T>A (p.Tyr3064Asn) | |
5 | g.13753518A= | CA1528423546 | DNAH5 | c.10587T= (p.Ser3529=) c.10542T= (p.Ser3514=) c.10695T= (p.Ser3565=) c.9600T= (p.Ser3200=) c.5784T= (p.Ser1928=) c.5337T= (p.Ser1779=) c.4674T= (p.Ser1558=) c.9189T= (p.Ser3063=) | |
5 | g.13753518A>C | CA443536003 | DNAH5 | c.10587T>G (p.Ser3529=) c.10542T>G (p.Ser3514=) c.10695T>G (p.Ser3565=) c.9600T>G (p.Ser3200=) c.5784T>G (p.Ser1928=) c.5337T>G (p.Ser1779=) c.4674T>G (p.Ser1558=) c.9189T>G (p.Ser3063=) | |
5 | g.13753518A>G | CA443536004 | DNAH5 | c.10587T>C (p.Ser3529=) c.10542T>C (p.Ser3514=) c.10695T>C (p.Ser3565=) c.9600T>C (p.Ser3200=) c.5784T>C (p.Ser1928=) c.5337T>C (p.Ser1779=) c.4674T>C (p.Ser1558=) c.9189T>C (p.Ser3063=) | dbSNP gnomAD v2 |
5 | g.13753518A>T | CA443536005 | DNAH5 | c.10587T>A (p.Ser3529=) c.10542T>A (p.Ser3514=) c.10695T>A (p.Ser3565=) c.9600T>A (p.Ser3200=) c.5784T>A (p.Ser1928=) c.5337T>A (p.Ser1779=) c.4674T>A (p.Ser1558=) c.9189T>A (p.Ser3063=) | |
5 | g.13753519G>A | CA359192266 | DNAH5 | c.10586C>T (p.Ser3529Phe) c.10541C>T (p.Ser3514Phe) c.10694C>T (p.Ser3565Phe) c.9599C>T (p.Ser3200Phe) c.5783C>T (p.Ser1928Phe) c.5336C>T (p.Ser1779Phe) c.4673C>T (p.Ser1558Phe) c.9188C>T (p.Ser3063Phe) | |
5 | g.13753519G>C | CA359192267 | DNAH5 | c.10586C>G (p.Ser3529Cys) c.10541C>G (p.Ser3514Cys) c.10694C>G (p.Ser3565Cys) c.9599C>G (p.Ser3200Cys) c.5783C>G (p.Ser1928Cys) c.5336C>G (p.Ser1779Cys) c.4673C>G (p.Ser1558Cys) c.9188C>G (p.Ser3063Cys) | COSMIC |
5 | g.13753519G>T | CA359192269 | DNAH5 | c.10586C>A (p.Ser3529Tyr) c.10541C>A (p.Ser3514Tyr) c.10694C>A (p.Ser3565Tyr) c.9599C>A (p.Ser3200Tyr) c.5783C>A (p.Ser1928Tyr) c.5336C>A (p.Ser1779Tyr) c.4673C>A (p.Ser1558Tyr) c.9188C>A (p.Ser3063Tyr) | gnomAD v4 |
5 | g.13753520A>C | CA359192274 | DNAH5 | c.10585T>G (p.Ser3529Ala) c.10540T>G (p.Ser3514Ala) c.10693T>G (p.Ser3565Ala) c.9598T>G (p.Ser3200Ala) c.5782T>G (p.Ser1928Ala) c.5335T>G (p.Ser1779Ala) c.4672T>G (p.Ser1558Ala) c.9187T>G (p.Ser3063Ala) | |
5 | g.13753520A>G | CA359192273 | DNAH5 | c.10585T>C (p.Ser3529Pro) c.10540T>C (p.Ser3514Pro) c.10693T>C (p.Ser3565Pro) c.9598T>C (p.Ser3200Pro) c.5782T>C (p.Ser1928Pro) c.5335T>C (p.Ser1779Pro) c.4672T>C (p.Ser1558Pro) c.9187T>C (p.Ser3063Pro) | |
5 | g.13753520A>T | CA359192271 | DNAH5 | c.10585T>A (p.Ser3529Thr) c.10540T>A (p.Ser3514Thr) c.10693T>A (p.Ser3565Thr) c.9598T>A (p.Ser3200Thr) c.5782T>A (p.Ser1928Thr) c.5335T>A (p.Ser1779Thr) c.4672T>A (p.Ser1558Thr) c.9187T>A (p.Ser3063Thr) | |
5 | g.13753521T>A | CA3202174 | DNAH5 | c.10584A>T (p.Leu3528=) c.10539A>T (p.Leu3513=) c.10692A>T (p.Leu3564=) c.9597A>T (p.Leu3199=) c.5781A>T (p.Leu1927=) c.5334A>T (p.Leu1778=) c.4671A>T (p.Leu1557=) c.9186A>T (p.Leu3062=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753521T>C | CA3202173 | DNAH5 | c.10584A>G (p.Leu3528=) c.10539A>G (p.Leu3513=) c.10692A>G (p.Leu3564=) c.9597A>G (p.Leu3199=) c.5781A>G (p.Leu1927=) c.5334A>G (p.Leu1778=) c.4671A>G (p.Leu1557=) c.9186A>G (p.Leu3062=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753521T>G | CA443535402 | DNAH5 | c.10584A>C (p.Leu3528=) c.10539A>C (p.Leu3513=) c.10692A>C (p.Leu3564=) c.9597A>C (p.Leu3199=) c.5781A>C (p.Leu1927=) c.5334A>C (p.Leu1778=) c.4671A>C (p.Leu1557=) c.9186A>C (p.Leu3062=) | |
5 | g.13753521T= | CA1528423547 | DNAH5 | c.10584A= (p.Leu3528=) c.10539A= (p.Leu3513=) c.10692A= (p.Leu3564=) c.9597A= (p.Leu3199=) c.5781A= (p.Leu1927=) c.5334A= (p.Leu1778=) c.4671A= (p.Leu1557=) c.9186A= (p.Leu3062=) | |
5 | g.13753522A>C | CA359192278 | DNAH5 | c.10583T>G (p.Leu3528Arg) c.10538T>G (p.Leu3513Arg) c.10691T>G (p.Leu3564Arg) c.9596T>G (p.Leu3199Arg) c.5780T>G (p.Leu1927Arg) c.5333T>G (p.Leu1778Arg) c.4670T>G (p.Leu1557Arg) c.9185T>G (p.Leu3062Arg) | |
5 | g.13753522A>G | CA359192280 | DNAH5 | c.10583T>C (p.Leu3528Pro) c.10538T>C (p.Leu3513Pro) c.10691T>C (p.Leu3564Pro) c.9596T>C (p.Leu3199Pro) c.5780T>C (p.Leu1927Pro) c.5333T>C (p.Leu1778Pro) c.4670T>C (p.Leu1557Pro) c.9185T>C (p.Leu3062Pro) | |
5 | g.13753522A>T | CA359192282 | DNAH5 | c.10583T>A (p.Leu3528Gln) c.10538T>A (p.Leu3513Gln) c.10691T>A (p.Leu3564Gln) c.9596T>A (p.Leu3199Gln) c.5780T>A (p.Leu1927Gln) c.5333T>A (p.Leu1778Gln) c.4670T>A (p.Leu1557Gln) c.9185T>A (p.Leu3062Gln) | |
5 | g.13753523G>A | CA443535403 | DNAH5 | c.10582C>T (p.Leu3528=) c.10537C>T (p.Leu3513=) c.10690C>T (p.Leu3564=) c.9595C>T (p.Leu3199=) c.5779C>T (p.Leu1927=) c.5332C>T (p.Leu1778=) c.4669C>T (p.Leu1557=) c.9184C>T (p.Leu3062=) | ClinVar |
5 | g.13753523G>C | CA359192283 | DNAH5 | c.10582C>G (p.Leu3528Val) c.10537C>G (p.Leu3513Val) c.10690C>G (p.Leu3564Val) c.9595C>G (p.Leu3199Val) c.5779C>G (p.Leu1927Val) c.5332C>G (p.Leu1778Val) c.4669C>G (p.Leu1557Val) c.9184C>G (p.Leu3062Val) | gnomAD v4 |
5 | g.13753523G>T | CA359192285 | DNAH5 | c.10582C>A (p.Leu3528Ile) c.10537C>A (p.Leu3513Ile) c.10690C>A (p.Leu3564Ile) c.9595C>A (p.Leu3199Ile) c.5779C>A (p.Leu1927Ile) c.5332C>A (p.Leu1778Ile) c.4669C>A (p.Leu1557Ile) c.9184C>A (p.Leu3062Ile) | |
5 | g.13753524A= | CA1528423548 | DNAH5 | c.10581T= (p.Phe3527=) c.10536T= (p.Phe3512=) c.10689T= (p.Phe3563=) c.9594T= (p.Phe3198=) c.5778T= (p.Phe1926=) c.5331T= (p.Phe1777=) c.4668T= (p.Phe1556=) c.9183T= (p.Phe3061=) | |
5 | g.13753524A>C | CA359192287 | DNAH5 | c.10581T>G (p.Phe3527Leu) c.10536T>G (p.Phe3512Leu) c.10689T>G (p.Phe3563Leu) c.9594T>G (p.Phe3198Leu) c.5778T>G (p.Phe1926Leu) c.5331T>G (p.Phe1777Leu) c.4668T>G (p.Phe1556Leu) c.9183T>G (p.Phe3061Leu) | |
5 | g.13753524A>G | CA3202175 | DNAH5 | c.10581T>C (p.Phe3527=) c.10536T>C (p.Phe3512=) c.10689T>C (p.Phe3563=) c.9594T>C (p.Phe3198=) c.5778T>C (p.Phe1926=) c.5331T>C (p.Phe1777=) c.4668T>C (p.Phe1556=) c.9183T>C (p.Phe3061=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753524A>T | CA3202176 | DNAH5 | c.10581T>A (p.Phe3527Leu) c.10536T>A (p.Phe3512Leu) c.10689T>A (p.Phe3563Leu) c.9594T>A (p.Phe3198Leu) c.5778T>A (p.Phe1926Leu) c.5331T>A (p.Phe1777Leu) c.4668T>A (p.Phe1556Leu) c.9183T>A (p.Phe3061Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753525A>C | CA359192289 | DNAH5 | c.10580T>G (p.Phe3527Cys) c.10535T>G (p.Phe3512Cys) c.10688T>G (p.Phe3563Cys) c.9593T>G (p.Phe3198Cys) c.5777T>G (p.Phe1926Cys) c.5330T>G (p.Phe1777Cys) c.4667T>G (p.Phe1556Cys) c.9182T>G (p.Phe3061Cys) | |
5 | g.13753525A>G | CA359192290 | DNAH5 | c.10580T>C (p.Phe3527Ser) c.10535T>C (p.Phe3512Ser) c.10688T>C (p.Phe3563Ser) c.9593T>C (p.Phe3198Ser) c.5777T>C (p.Phe1926Ser) c.5330T>C (p.Phe1777Ser) c.4667T>C (p.Phe1556Ser) c.9182T>C (p.Phe3061Ser) | |
5 | g.13753525A>T | CA359192291 | DNAH5 | c.10580T>A (p.Phe3527Tyr) c.10535T>A (p.Phe3512Tyr) c.10688T>A (p.Phe3563Tyr) c.9593T>A (p.Phe3198Tyr) c.5777T>A (p.Phe1926Tyr) c.5330T>A (p.Phe1777Tyr) c.4667T>A (p.Phe1556Tyr) c.9182T>A (p.Phe3061Tyr) | |
5 | g.13753526A>C | CA359192293 | DNAH5 | c.10579T>G (p.Phe3527Val) c.10534T>G (p.Phe3512Val) c.10687T>G (p.Phe3563Val) c.9592T>G (p.Phe3198Val) c.5776T>G (p.Phe1926Val) c.5329T>G (p.Phe1777Val) c.4666T>G (p.Phe1556Val) c.9181T>G (p.Phe3061Val) | |
5 | g.13753526A>G | CA359192294 | DNAH5 | c.10579T>C (p.Phe3527Leu) c.10534T>C (p.Phe3512Leu) c.10687T>C (p.Phe3563Leu) c.9592T>C (p.Phe3198Leu) c.5776T>C (p.Phe1926Leu) c.5329T>C (p.Phe1777Leu) c.4666T>C (p.Phe1556Leu) c.9181T>C (p.Phe3061Leu) | gnomAD v4 |
5 | g.13753526A>T | CA359192292 | DNAH5 | c.10579T>A (p.Phe3527Ile) c.10534T>A (p.Phe3512Ile) c.10687T>A (p.Phe3563Ile) c.9592T>A (p.Phe3198Ile) c.5776T>A (p.Phe1926Ile) c.5329T>A (p.Phe1777Ile) c.4666T>A (p.Phe1556Ile) c.9181T>A (p.Phe3061Ile) | |
5 | g.13753527A= | CA1528423549 | DNAH5 | c.10578T= (p.Ala3526=) c.10533T= (p.Ala3511=) c.10686T= (p.Ala3562=) c.9591T= (p.Ala3197=) c.5775T= (p.Ala1925=) c.5328T= (p.Ala1776=) c.4665T= (p.Ala1555=) c.9180T= (p.Ala3060=) | |
5 | g.13753527A>C | CA443535404 | DNAH5 | c.10578T>G (p.Ala3526=) c.10533T>G (p.Ala3511=) c.10686T>G (p.Ala3562=) c.9591T>G (p.Ala3197=) c.5775T>G (p.Ala1925=) c.5328T>G (p.Ala1776=) c.4665T>G (p.Ala1555=) c.9180T>G (p.Ala3060=) | |
5 | g.13753527A>G | CA443535405 | DNAH5 | c.10578T>C (p.Ala3526=) c.10533T>C (p.Ala3511=) c.10686T>C (p.Ala3562=) c.9591T>C (p.Ala3197=) c.5775T>C (p.Ala1925=) c.5328T>C (p.Ala1776=) c.4665T>C (p.Ala1555=) c.9180T>C (p.Ala3060=) | ClinVar |
5 | g.13753527A>T | CA443535406 | DNAH5 | c.10578T>A (p.Ala3526=) c.10533T>A (p.Ala3511=) c.10686T>A (p.Ala3562=) c.9591T>A (p.Ala3197=) c.5775T>A (p.Ala1925=) c.5328T>A (p.Ala1776=) c.4665T>A (p.Ala1555=) c.9180T>A (p.Ala3060=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753528G>A | CA3202177 | DNAH5 | c.10577C>T (p.Ala3526Val) c.10532C>T (p.Ala3511Val) c.10685C>T (p.Ala3562Val) c.9590C>T (p.Ala3197Val) c.5774C>T (p.Ala1925Val) c.5327C>T (p.Ala1776Val) c.4664C>T (p.Ala1555Val) c.9179C>T (p.Ala3060Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13753528G>C | CA359192295 | DNAH5 | c.10577C>G (p.Ala3526Gly) c.10532C>G (p.Ala3511Gly) c.10685C>G (p.Ala3562Gly) c.9590C>G (p.Ala3197Gly) c.5774C>G (p.Ala1925Gly) c.5327C>G (p.Ala1776Gly) c.4664C>G (p.Ala1555Gly) c.9179C>G (p.Ala3060Gly) | |
5 | g.13753528G= | CA1528423551 | DNAH5 | c.10577C= (p.Ala3526=) c.10532C= (p.Ala3511=) c.10685C= (p.Ala3562=) c.9590C= (p.Ala3197=) c.5774C= (p.Ala1925=) c.5327C= (p.Ala1776=) c.4664C= (p.Ala1555=) c.9179C= (p.Ala3060=) | |
5 | g.13753528G>T | CA359192296 | DNAH5 | c.10577C>A (p.Ala3526Asp) c.10532C>A (p.Ala3511Asp) c.10685C>A (p.Ala3562Asp) c.9590C>A (p.Ala3197Asp) c.5774C>A (p.Ala1925Asp) c.5327C>A (p.Ala1776Asp) c.4664C>A (p.Ala1555Asp) c.9179C>A (p.Ala3060Asp) | |
5 | g.13753528_13753529delinsGC | CA1528423550 | DNAH5 | c.10576_10577delinsGC (p.Ala3526=) c.10531_10532delinsGC (p.Ala3511=) c.10684_10685delinsGC (p.Ala3562=) c.9589_9590delinsGC (p.Ala3197=) c.5773_5774delinsGC (p.Ala1925=) c.5326_5327delinsGC (p.Ala1776=) c.4663_4664delinsGC (p.Ala1555=) c.9178_9179delinsGC (p.Ala3060=) | |
5 | g.13753529del | CA1073401907 | DNAH5 | c.10576del (p.Ala3526LeufsTer18) c.10531del (p.Ala3511LeufsTer18) c.10684del (p.Ala3562LeufsTer18) c.9589del (p.Ala3197LeufsTer18) c.5773del (p.Ala1925LeufsTer18) c.5326del (p.Ala1776LeufsTer18) c.4663del (p.Ala1555LeufsTer18) c.9178del (p.Ala3060LeufsTer18) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753529C>A | CA359192297 | DNAH5 | c.10576G>T (p.Ala3526Ser) c.10531G>T (p.Ala3511Ser) c.10684G>T (p.Ala3562Ser) c.9589G>T (p.Ala3197Ser) c.5773G>T (p.Ala1925Ser) c.5326G>T (p.Ala1776Ser) c.4663G>T (p.Ala1555Ser) c.9178G>T (p.Ala3060Ser) | COSMIC |
5 | g.13753529C= | CA1528423552 | DNAH5 | c.10576G= (p.Ala3526=) c.10531G= (p.Ala3511=) c.10684G= (p.Ala3562=) c.9589G= (p.Ala3197=) c.5773G= (p.Ala1925=) c.5326G= (p.Ala1776=) c.4663G= (p.Ala1555=) c.9178G= (p.Ala3060=) | |
5 | g.13753529C>G | CA113919174 | DNAH5 | c.10576G>C (p.Ala3526Pro) c.10531G>C (p.Ala3511Pro) c.10684G>C (p.Ala3562Pro) c.9589G>C (p.Ala3197Pro) c.5773G>C (p.Ala1925Pro) c.5326G>C (p.Ala1776Pro) c.4663G>C (p.Ala1555Pro) c.9178G>C (p.Ala3060Pro) | dbSNP gnomAD v4 |
5 | g.13753529C>T | CA113919177 | DNAH5 | c.10576G>A (p.Ala3526Thr) c.10531G>A (p.Ala3511Thr) c.10684G>A (p.Ala3562Thr) c.9589G>A (p.Ala3197Thr) c.5773G>A (p.Ala1925Thr) c.5326G>A (p.Ala1776Thr) c.4663G>A (p.Ala1555Thr) c.9178G>A (p.Ala3060Thr) | dbSNP gnomAD v4 |
5 | g.13753530T>A | CA443535407 | DNAH5 | c.10575A>T (p.Thr3525=) c.10530A>T (p.Thr3510=) c.10683A>T (p.Thr3561=) c.9588A>T (p.Thr3196=) c.5772A>T (p.Thr1924=) c.5325A>T (p.Thr1775=) c.4662A>T (p.Thr1554=) c.9177A>T (p.Thr3059=) | |
5 | g.13753530T>C | CA443535409 | DNAH5 | c.10575A>G (p.Thr3525=) c.10530A>G (p.Thr3510=) c.10683A>G (p.Thr3561=) c.9588A>G (p.Thr3196=) c.5772A>G (p.Thr1924=) c.5325A>G (p.Thr1775=) c.4662A>G (p.Thr1554=) c.9177A>G (p.Thr3059=) | |
5 | g.13753530T>G | CA443535408 | DNAH5 | c.10575A>C (p.Thr3525=) c.10530A>C (p.Thr3510=) c.10683A>C (p.Thr3561=) c.9588A>C (p.Thr3196=) c.5772A>C (p.Thr1924=) c.5325A>C (p.Thr1775=) c.4662A>C (p.Thr1554=) c.9177A>C (p.Thr3059=) | |
5 | g.13753531G>A | CA359192298 | DNAH5 | c.10574C>T (p.Thr3525Ile) c.10529C>T (p.Thr3510Ile) c.10682C>T (p.Thr3561Ile) c.9587C>T (p.Thr3196Ile) c.5771C>T (p.Thr1924Ile) c.5324C>T (p.Thr1775Ile) c.4661C>T (p.Thr1554Ile) c.9176C>T (p.Thr3059Ile) | dbSNP gnomAD v4 |
5 | g.13753531G>C | CA359192299 | DNAH5 | c.10574C>G (p.Thr3525Arg) c.10529C>G (p.Thr3510Arg) c.10682C>G (p.Thr3561Arg) c.9587C>G (p.Thr3196Arg) c.5771C>G (p.Thr1924Arg) c.5324C>G (p.Thr1775Arg) c.4661C>G (p.Thr1554Arg) c.9176C>G (p.Thr3059Arg) | |
5 | g.13753531G= | CA1528423553 | DNAH5 | c.10574C= (p.Thr3525=) c.10529C= (p.Thr3510=) c.10682C= (p.Thr3561=) c.9587C= (p.Thr3196=) c.5771C= (p.Thr1924=) c.5324C= (p.Thr1775=) c.4661C= (p.Thr1554=) c.9176C= (p.Thr3059=) | |
5 | g.13753531G>T | CA359192300 | DNAH5 | c.10574C>A (p.Thr3525Lys) c.10529C>A (p.Thr3510Lys) c.10682C>A (p.Thr3561Lys) c.9587C>A (p.Thr3196Lys) c.5771C>A (p.Thr1924Lys) c.5324C>A (p.Thr1775Lys) c.4661C>A (p.Thr1554Lys) c.9176C>A (p.Thr3059Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753532T>A | CA359192301 | DNAH5 | c.10573A>T (p.Thr3525Ser) c.10528A>T (p.Thr3510Ser) c.10681A>T (p.Thr3561Ser) c.9586A>T (p.Thr3196Ser) c.5770A>T (p.Thr1924Ser) c.5323A>T (p.Thr1775Ser) c.4660A>T (p.Thr1554Ser) c.9175A>T (p.Thr3059Ser) | |
5 | g.13753532T>C | CA359192302 | DNAH5 | c.10573A>G (p.Thr3525Ala) c.10528A>G (p.Thr3510Ala) c.10681A>G (p.Thr3561Ala) c.9586A>G (p.Thr3196Ala) c.5770A>G (p.Thr1924Ala) c.5323A>G (p.Thr1775Ala) c.4660A>G (p.Thr1554Ala) c.9175A>G (p.Thr3059Ala) | |
5 | g.13753532T>G | CA359192303 | DNAH5 | c.10573A>C (p.Thr3525Pro) c.10528A>C (p.Thr3510Pro) c.10681A>C (p.Thr3561Pro) c.9586A>C (p.Thr3196Pro) c.5770A>C (p.Thr1924Pro) c.5323A>C (p.Thr1775Pro) c.4660A>C (p.Thr1554Pro) c.9175A>C (p.Thr3059Pro) | |
5 | g.13753533A>C | CA443535410 | DNAH5 | c.10572T>G (p.Ala3524=) c.10527T>G (p.Ala3509=) c.10680T>G (p.Ala3560=) c.9585T>G (p.Ala3195=) c.5769T>G (p.Ala1923=) c.5322T>G (p.Ala1774=) c.4659T>G (p.Ala1553=) c.9174T>G (p.Ala3058=) | |
5 | g.13753533A>G | CA443535411 | DNAH5 | c.10572T>C (p.Ala3524=) c.10527T>C (p.Ala3509=) c.10680T>C (p.Ala3560=) c.9585T>C (p.Ala3195=) c.5769T>C (p.Ala1923=) c.5322T>C (p.Ala1774=) c.4659T>C (p.Ala1553=) c.9174T>C (p.Ala3058=) | ClinVar gnomAD v4 |
5 | g.13753533A>T | CA443535412 | DNAH5 | c.10572T>A (p.Ala3524=) c.10527T>A (p.Ala3509=) c.10680T>A (p.Ala3560=) c.9585T>A (p.Ala3195=) c.5769T>A (p.Ala1923=) c.5322T>A (p.Ala1774=) c.4659T>A (p.Ala1553=) c.9174T>A (p.Ala3058=) | |
5 | g.13753534G>A | CA359192304 | DNAH5 | c.10571C>T (p.Ala3524Val) c.10526C>T (p.Ala3509Val) c.10679C>T (p.Ala3560Val) c.9584C>T (p.Ala3195Val) c.5768C>T (p.Ala1923Val) c.5321C>T (p.Ala1774Val) c.4658C>T (p.Ala1553Val) c.9173C>T (p.Ala3058Val) | gnomAD v4 |
5 | g.13753534G>C | CA359192305 | DNAH5 | c.10571C>G (p.Ala3524Gly) c.10526C>G (p.Ala3509Gly) c.10679C>G (p.Ala3560Gly) c.9584C>G (p.Ala3195Gly) c.5768C>G (p.Ala1923Gly) c.5321C>G (p.Ala1774Gly) c.4658C>G (p.Ala1553Gly) c.9173C>G (p.Ala3058Gly) | |
5 | g.13753534G>T | CA359192306 | DNAH5 | c.10571C>A (p.Ala3524Asp) c.10526C>A (p.Ala3509Asp) c.10679C>A (p.Ala3560Asp) c.9584C>A (p.Ala3195Asp) c.5768C>A (p.Ala1923Asp) c.5321C>A (p.Ala1774Asp) c.4658C>A (p.Ala1553Asp) c.9173C>A (p.Ala3058Asp) | |
5 | g.13753535C>A | CA359192309 | DNAH5 | c.10570G>T (p.Ala3524Ser) c.10525G>T (p.Ala3509Ser) c.10678G>T (p.Ala3560Ser) c.9583G>T (p.Ala3195Ser) c.5767G>T (p.Ala1923Ser) c.5320G>T (p.Ala1774Ser) c.4657G>T (p.Ala1553Ser) c.9172G>T (p.Ala3058Ser) | |
5 | g.13753535C>G | CA359192308 | DNAH5 | c.10570G>C (p.Ala3524Pro) c.10525G>C (p.Ala3509Pro) c.10678G>C (p.Ala3560Pro) c.9583G>C (p.Ala3195Pro) c.5767G>C (p.Ala1923Pro) c.5320G>C (p.Ala1774Pro) c.4657G>C (p.Ala1553Pro) c.9172G>C (p.Ala3058Pro) | |
5 | g.13753535C>T | CA359192307 | DNAH5 | c.10570G>A (p.Ala3524Thr) c.10525G>A (p.Ala3509Thr) c.10678G>A (p.Ala3560Thr) c.9583G>A (p.Ala3195Thr) c.5767G>A (p.Ala1923Thr) c.5320G>A (p.Ala1774Thr) c.4657G>A (p.Ala1553Thr) c.9172G>A (p.Ala3058Thr) | |
5 | g.13753536C>A | CA359192310 | DNAH5 | c.10569G>T (p.Leu3523Phe) c.10524G>T (p.Leu3508Phe) c.10677G>T (p.Leu3559Phe) c.9582G>T (p.Leu3194Phe) c.5766G>T (p.Leu1922Phe) c.5319G>T (p.Leu1773Phe) c.4656G>T (p.Leu1552Phe) c.9171G>T (p.Leu3057Phe) | |
5 | g.13753536C>G | CA359192311 | DNAH5 | c.10569G>C (p.Leu3523Phe) c.10524G>C (p.Leu3508Phe) c.10677G>C (p.Leu3559Phe) c.9582G>C (p.Leu3194Phe) c.5766G>C (p.Leu1922Phe) c.5319G>C (p.Leu1773Phe) c.4656G>C (p.Leu1552Phe) c.9171G>C (p.Leu3057Phe) | |
5 | g.13753536C>T | CA443535413 | DNAH5 | c.10569G>A (p.Leu3523=) c.10524G>A (p.Leu3508=) c.10677G>A (p.Leu3559=) c.9582G>A (p.Leu3194=) c.5766G>A (p.Leu1922=) c.5319G>A (p.Leu1773=) c.4656G>A (p.Leu1552=) c.9171G>A (p.Leu3057=) | |
5 | g.13753537A>C | CA359192312 | DNAH5 | c.10568T>G (p.Leu3523Trp) c.10523T>G (p.Leu3508Trp) c.10676T>G (p.Leu3559Trp) c.9581T>G (p.Leu3194Trp) c.5765T>G (p.Leu1922Trp) c.5318T>G (p.Leu1773Trp) c.4655T>G (p.Leu1552Trp) c.9170T>G (p.Leu3057Trp) | |
5 | g.13753537A>G | CA359192313 | DNAH5 | c.10568T>C (p.Leu3523Ser) c.10523T>C (p.Leu3508Ser) c.10676T>C (p.Leu3559Ser) c.9581T>C (p.Leu3194Ser) c.5765T>C (p.Leu1922Ser) c.5318T>C (p.Leu1773Ser) c.4655T>C (p.Leu1552Ser) c.9170T>C (p.Leu3057Ser) | |
5 | g.13753537A>T | CA359192314 | DNAH5 | c.10568T>A (p.Leu3523Ter) c.10523T>A (p.Leu3508Ter) c.10676T>A (p.Leu3559Ter) c.9581T>A (p.Leu3194Ter) c.5765T>A (p.Leu1922Ter) c.5318T>A (p.Leu1773Ter) c.4655T>A (p.Leu1552Ter) c.9170T>A (p.Leu3057Ter) | |
5 | g.13753538A>C | CA359192315 | DNAH5 | c.10567T>G (p.Leu3523Val) c.10522T>G (p.Leu3508Val) c.10675T>G (p.Leu3559Val) c.9580T>G (p.Leu3194Val) c.5764T>G (p.Leu1922Val) c.5317T>G (p.Leu1773Val) c.4654T>G (p.Leu1552Val) c.9169T>G (p.Leu3057Val) | |
5 | g.13753538A>G | CA443535414 | DNAH5 | c.10567T>C (p.Leu3523=) c.10522T>C (p.Leu3508=) c.10675T>C (p.Leu3559=) c.9580T>C (p.Leu3194=) c.5764T>C (p.Leu1922=) c.5317T>C (p.Leu1773=) c.4654T>C (p.Leu1552=) c.9169T>C (p.Leu3057=) | |
5 | g.13753538A>T | CA359192316 | DNAH5 | c.10567T>A (p.Leu3523Met) c.10522T>A (p.Leu3508Met) c.10675T>A (p.Leu3559Met) c.9580T>A (p.Leu3194Met) c.5764T>A (p.Leu1922Met) c.5317T>A (p.Leu1773Met) c.4654T>A (p.Leu1552Met) c.9169T>A (p.Leu3057Met) | |
5 | g.13753539C>A | CA443535415 | DNAH5 | c.10566G>T (p.Leu3522=) c.10521G>T (p.Leu3507=) c.10674G>T (p.Leu3558=) c.9579G>T (p.Leu3193=) c.5763G>T (p.Leu1921=) c.5316G>T (p.Leu1772=) c.4653G>T (p.Leu1551=) c.9168G>T (p.Leu3056=) | |
5 | g.13753539C= | CA1528423554 | DNAH5 | c.10566G= (p.Leu3522=) c.10521G= (p.Leu3507=) c.10674G= (p.Leu3558=) c.9579G= (p.Leu3193=) c.5763G= (p.Leu1921=) c.5316G= (p.Leu1772=) c.4653G= (p.Leu1551=) c.9168G= (p.Leu3056=) | |
5 | g.13753539C>G | CA443535416 | DNAH5 | c.10566G>C (p.Leu3522=) c.10521G>C (p.Leu3507=) c.10674G>C (p.Leu3558=) c.9579G>C (p.Leu3193=) c.5763G>C (p.Leu1921=) c.5316G>C (p.Leu1772=) c.4653G>C (p.Leu1551=) c.9168G>C (p.Leu3056=) | gnomAD v4 |
5 | g.13753539C>T | CA443535417 | DNAH5 | c.10566G>A (p.Leu3522=) c.10521G>A (p.Leu3507=) c.10674G>A (p.Leu3558=) c.9579G>A (p.Leu3193=) c.5763G>A (p.Leu1921=) c.5316G>A (p.Leu1772=) c.4653G>A (p.Leu1551=) c.9168G>A (p.Leu3056=) | dbSNP |
5 | g.13753540A>C | CA359192317 | DNAH5 | c.10565T>G (p.Leu3522Arg) c.10520T>G (p.Leu3507Arg) c.10673T>G (p.Leu3558Arg) c.9578T>G (p.Leu3193Arg) c.5762T>G (p.Leu1921Arg) c.5315T>G (p.Leu1772Arg) c.4652T>G (p.Leu1551Arg) c.9167T>G (p.Leu3056Arg) | ClinVar |
5 | g.13753540A>G | CA359192318 | DNAH5 | c.10565T>C (p.Leu3522Pro) c.10520T>C (p.Leu3507Pro) c.10673T>C (p.Leu3558Pro) c.9578T>C (p.Leu3193Pro) c.5762T>C (p.Leu1921Pro) c.5315T>C (p.Leu1772Pro) c.4652T>C (p.Leu1551Pro) c.9167T>C (p.Leu3056Pro) | |
5 | g.13753540A>T | CA359192319 | DNAH5 | c.10565T>A (p.Leu3522Gln) c.10520T>A (p.Leu3507Gln) c.10673T>A (p.Leu3558Gln) c.9578T>A (p.Leu3193Gln) c.5762T>A (p.Leu1921Gln) c.5315T>A (p.Leu1772Gln) c.4652T>A (p.Leu1551Gln) c.9167T>A (p.Leu3056Gln) | |
5 | g.13753541G>A | CA443535418 | DNAH5 | c.10564C>T (p.Leu3522=) c.10519C>T (p.Leu3507=) c.10672C>T (p.Leu3558=) c.9577C>T (p.Leu3193=) c.5761C>T (p.Leu1921=) c.5314C>T (p.Leu1772=) c.4651C>T (p.Leu1551=) c.9166C>T (p.Leu3056=) | ClinVar gnomAD v4 |
5 | g.13753541G>C | CA3202178 | DNAH5 | c.10564C>G (p.Leu3522Val) c.10519C>G (p.Leu3507Val) c.10672C>G (p.Leu3558Val) c.9577C>G (p.Leu3193Val) c.5761C>G (p.Leu1921Val) c.5314C>G (p.Leu1772Val) c.4651C>G (p.Leu1551Val) c.9166C>G (p.Leu3056Val) | dbSNP ExAC |
5 | g.13753541G= | CA1528423555 | DNAH5 | c.10564C= (p.Leu3522=) c.10519C= (p.Leu3507=) c.10672C= (p.Leu3558=) c.9577C= (p.Leu3193=) c.5761C= (p.Leu1921=) c.5314C= (p.Leu1772=) c.4651C= (p.Leu1551=) c.9166C= (p.Leu3056=) | |
5 | g.13753541G>T | CA359192320 | DNAH5 | c.10564C>A (p.Leu3522Met) c.10519C>A (p.Leu3507Met) c.10672C>A (p.Leu3558Met) c.9577C>A (p.Leu3193Met) c.5761C>A (p.Leu1921Met) c.5314C>A (p.Leu1772Met) c.4651C>A (p.Leu1551Met) c.9166C>A (p.Leu3056Met) | |
5 | g.13753542T>A | CA443535419 | DNAH5 | c.10563A>T (p.Val3521=) c.10518A>T (p.Val3506=) c.10671A>T (p.Val3557=) c.9576A>T (p.Val3192=) c.5760A>T (p.Val1920=) c.5313A>T (p.Val1771=) c.4650A>T (p.Val1550=) c.9165A>T (p.Val3055=) | |
5 | g.13753542T>C | CA443535420 | DNAH5 | c.10563A>G (p.Val3521=) c.10518A>G (p.Val3506=) c.10671A>G (p.Val3557=) c.9576A>G (p.Val3192=) c.5760A>G (p.Val1920=) c.5313A>G (p.Val1771=) c.4650A>G (p.Val1550=) c.9165A>G (p.Val3055=) | ClinVar gnomAD v4 |
5 | g.13753542T>G | CA443535421 | DNAH5 | c.10563A>C (p.Val3521=) c.10518A>C (p.Val3506=) c.10671A>C (p.Val3557=) c.9576A>C (p.Val3192=) c.5760A>C (p.Val1920=) c.5313A>C (p.Val1771=) c.4650A>C (p.Val1550=) c.9165A>C (p.Val3055=) | |
5 | g.13753543A>C | CA359192323 | DNAH5 | c.10562T>G (p.Val3521Gly) c.10517T>G (p.Val3506Gly) c.10670T>G (p.Val3557Gly) c.9575T>G (p.Val3192Gly) c.5759T>G (p.Val1920Gly) c.5312T>G (p.Val1771Gly) c.4649T>G (p.Val1550Gly) c.9164T>G (p.Val3055Gly) | |
5 | g.13753543A>G | CA359192322 | DNAH5 | c.10562T>C (p.Val3521Ala) c.10517T>C (p.Val3506Ala) c.10670T>C (p.Val3557Ala) c.9575T>C (p.Val3192Ala) c.5759T>C (p.Val1920Ala) c.5312T>C (p.Val1771Ala) c.4649T>C (p.Val1550Ala) c.9164T>C (p.Val3055Ala) | |
5 | g.13753543A>T | CA359192321 | DNAH5 | c.10562T>A (p.Val3521Glu) c.10517T>A (p.Val3506Glu) c.10670T>A (p.Val3557Glu) c.9575T>A (p.Val3192Glu) c.5759T>A (p.Val1920Glu) c.5312T>A (p.Val1771Glu) c.4649T>A (p.Val1550Glu) c.9164T>A (p.Val3055Glu) | |
5 | g.13753544C>A | CA359192324 | DNAH5 | c.10561G>T (p.Val3521Leu) c.10516G>T (p.Val3506Leu) c.10669G>T (p.Val3557Leu) c.9574G>T (p.Val3192Leu) c.5758G>T (p.Val1920Leu) c.5311G>T (p.Val1771Leu) c.4648G>T (p.Val1550Leu) c.9163G>T (p.Val3055Leu) | |
5 | g.13753544C>G | CA359192325 | DNAH5 | c.10561G>C (p.Val3521Leu) c.10516G>C (p.Val3506Leu) c.10669G>C (p.Val3557Leu) c.9574G>C (p.Val3192Leu) c.5758G>C (p.Val1920Leu) c.5311G>C (p.Val1771Leu) c.4648G>C (p.Val1550Leu) c.9163G>C (p.Val3055Leu) | |
5 | g.13753544C>T | CA359192326 | DNAH5 | c.10561G>A (p.Val3521Ile) c.10516G>A (p.Val3506Ile) c.10669G>A (p.Val3557Ile) c.9574G>A (p.Val3192Ile) c.5758G>A (p.Val1920Ile) c.5311G>A (p.Val1771Ile) c.4648G>A (p.Val1550Ile) c.9163G>A (p.Val3055Ile) | gnomAD v4 |
5 | g.13753545A= | CA1528423556 | DNAH5 | c.10560T= (p.Asp3520=) c.10515T= (p.Asp3505=) c.10668T= (p.Asp3556=) c.9573T= (p.Asp3191=) c.5757T= (p.Asp1919=) c.5310T= (p.Asp1770=) c.4647T= (p.Asp1549=) c.9162T= (p.Asp3054=) | |
5 | g.13753545A>C | CA359192327 | DNAH5 | c.10560T>G (p.Asp3520Glu) c.10515T>G (p.Asp3505Glu) c.10668T>G (p.Asp3556Glu) c.9573T>G (p.Asp3191Glu) c.5757T>G (p.Asp1919Glu) c.5310T>G (p.Asp1770Glu) c.4647T>G (p.Asp1549Glu) c.9162T>G (p.Asp3054Glu) | COSMIC |
5 | g.13753545A>G | CA3202179 | DNAH5 | c.10560T>C (p.Asp3520=) c.10515T>C (p.Asp3505=) c.10668T>C (p.Asp3556=) c.9573T>C (p.Asp3191=) c.5757T>C (p.Asp1919=) c.5310T>C (p.Asp1770=) c.4647T>C (p.Asp1549=) c.9162T>C (p.Asp3054=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753545A>T | CA359192328 | DNAH5 | c.10560T>A (p.Asp3520Glu) c.10515T>A (p.Asp3505Glu) c.10668T>A (p.Asp3556Glu) c.9573T>A (p.Asp3191Glu) c.5757T>A (p.Asp1919Glu) c.5310T>A (p.Asp1770Glu) c.4647T>A (p.Asp1549Glu) c.9162T>A (p.Asp3054Glu) |