UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.13753546T>A | CA359192329 | DNAH5 | c.10559A>T (p.Asp3520Val) c.10514A>T (p.Asp3505Val) c.10667A>T (p.Asp3556Val) c.9572A>T (p.Asp3191Val) c.5756A>T (p.Asp1919Val) c.5309A>T (p.Asp1770Val) c.4646A>T (p.Asp1549Val) c.9161A>T (p.Asp3054Val) | ClinVar |
| 5 | g.13753546T>C | CA359192330 | DNAH5 | c.10559A>G (p.Asp3520Gly) c.10514A>G (p.Asp3505Gly) c.10667A>G (p.Asp3556Gly) c.9572A>G (p.Asp3191Gly) c.5756A>G (p.Asp1919Gly) c.5309A>G (p.Asp1770Gly) c.4646A>G (p.Asp1549Gly) c.9161A>G (p.Asp3054Gly) | |
| 5 | g.13753546T>G | CA359192331 | DNAH5 | c.10559A>C (p.Asp3520Ala) c.10514A>C (p.Asp3505Ala) c.10667A>C (p.Asp3556Ala) c.9572A>C (p.Asp3191Ala) c.5756A>C (p.Asp1919Ala) c.5309A>C (p.Asp1770Ala) c.4646A>C (p.Asp1549Ala) c.9161A>C (p.Asp3054Ala) | |
| 5 | g.13753546_13753547delinsTC | CA1528423557 | DNAH5 | c.10558_10559delinsGA (p.Asp3520=) c.10513_10514delinsGA (p.Asp3505=) c.10666_10667delinsGA (p.Asp3556=) c.9571_9572delinsGA (p.Asp3191=) c.5755_5756delinsGA (p.Asp1919=) c.5308_5309delinsGA (p.Asp1770=) c.4645_4646delinsGA (p.Asp1549=) c.9160_9161delinsGA (p.Asp3054=) | |
| 5 | g.13753547C>A | CA3202180 | DNAH5 | c.10558G>T (p.Asp3520Tyr) c.10513G>T (p.Asp3505Tyr) c.10666G>T (p.Asp3556Tyr) c.9571G>T (p.Asp3191Tyr) c.5755G>T (p.Asp1919Tyr) c.5308G>T (p.Asp1770Tyr) c.4645G>T (p.Asp1549Tyr) c.9160G>T (p.Asp3054Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13753547C= | CA1528423558 | DNAH5 | c.10558G= (p.Asp3520=) c.10513G= (p.Asp3505=) c.10666G= (p.Asp3556=) c.9571G= (p.Asp3191=) c.5755G= (p.Asp1919=) c.5308G= (p.Asp1770=) c.4645G= (p.Asp1549=) c.9160G= (p.Asp3054=) | |
| 5 | g.13753547C>G | CA359192332 | DNAH5 | c.10558G>C (p.Asp3520His) c.10513G>C (p.Asp3505His) c.10666G>C (p.Asp3556His) c.9571G>C (p.Asp3191His) c.5755G>C (p.Asp1919His) c.5308G>C (p.Asp1770His) c.4645G>C (p.Asp1549His) c.9160G>C (p.Asp3054His) | |
| 5 | g.13753547C>T | CA359192333 | DNAH5 | c.10558G>A (p.Asp3520Asn) c.10513G>A (p.Asp3505Asn) c.10666G>A (p.Asp3556Asn) c.9571G>A (p.Asp3191Asn) c.5755G>A (p.Asp1919Asn) c.5308G>A (p.Asp1770Asn) c.4645G>A (p.Asp1549Asn) c.9160G>A (p.Asp3054Asn) | gnomAD v4 COSMIC |
| 5 | g.13753550del | CA557876491 | DNAH5 | c.10558del c.10513del c.10666del c.9571del c.5755del c.5308del c.4645del c.9160del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753548C>A | CA443535422 | DNAH5 | c.10557G>T (p.Gly3519=) c.10512G>T (p.Gly3504=) c.10665G>T (p.Gly3555=) c.9570G>T (p.Gly3190=) c.5754G>T (p.Gly1918=) c.5307G>T (p.Gly1769=) c.4644G>T (p.Gly1548=) c.9159G>T (p.Gly3053=) | |
| 5 | g.13753548C>G | CA443535423 | DNAH5 | c.10557G>C (p.Gly3519=) c.10512G>C (p.Gly3504=) c.10665G>C (p.Gly3555=) c.9570G>C (p.Gly3190=) c.5754G>C (p.Gly1918=) c.5307G>C (p.Gly1769=) c.4644G>C (p.Gly1548=) c.9159G>C (p.Gly3053=) | |
| 5 | g.13753548C>T | CA443535424 | DNAH5 | c.10557G>A (p.Gly3519=) c.10512G>A (p.Gly3504=) c.10665G>A (p.Gly3555=) c.9570G>A (p.Gly3190=) c.5754G>A (p.Gly1918=) c.5307G>A (p.Gly1769=) c.4644G>A (p.Gly1548=) c.9159G>A (p.Gly3053=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13753549C>A | CA359192335 | DNAH5 | c.10556G>T (p.Gly3519Val) c.10511G>T (p.Gly3504Val) c.10664G>T (p.Gly3555Val) c.9569G>T (p.Gly3190Val) c.5753G>T (p.Gly1918Val) c.5306G>T (p.Gly1769Val) c.4643G>T (p.Gly1548Val) c.9158G>T (p.Gly3053Val) | |
| 5 | g.13753549C>G | CA359192336 | DNAH5 | c.10556G>C (p.Gly3519Ala) c.10511G>C (p.Gly3504Ala) c.10664G>C (p.Gly3555Ala) c.9569G>C (p.Gly3190Ala) c.5753G>C (p.Gly1918Ala) c.5306G>C (p.Gly1769Ala) c.4643G>C (p.Gly1548Ala) c.9158G>C (p.Gly3053Ala) | |
| 5 | g.13753549C>T | CA359192334 | DNAH5 | c.10556G>A (p.Gly3519Glu) c.10511G>A (p.Gly3504Glu) c.10664G>A (p.Gly3555Glu) c.9569G>A (p.Gly3190Glu) c.5753G>A (p.Gly1918Glu) c.5306G>A (p.Gly1769Glu) c.4643G>A (p.Gly1548Glu) c.9158G>A (p.Gly3053Glu) | gnomAD v4 |
| 5 | g.13753550C>A | CA359192337 | DNAH5 | c.10556-1G>T (n.10556-1G>T) c.10511-1G>T (n.10511-1G>T) c.10664-1G>T (n.10664-1G>T) c.9569-1G>T (n.9569-1G>T) c.5753-1G>T (n.5753-1G>T) c.5306-1G>T (n.5306-1G>T) c.4643-1G>T (n.4643-1G>T) c.9158-1G>T (n.9158-1G>T) | |
| 5 | g.13753550C= | CA1528423559 | DNAH5 | c.10556-1G= (n.10556-1G=) c.10511-1G= (n.10511-1G=) c.10664-1G= (n.10664-1G=) c.9569-1G= (n.9569-1G=) c.5753-1G= (n.5753-1G=) c.5306-1G= (n.5306-1G=) c.4643-1G= (n.4643-1G=) c.9158-1G= (n.9158-1G=) | |
| 5 | g.13753550C>G | CA359192338 | DNAH5 | c.10556-1G>C (n.10556-1G>C) c.10511-1G>C (n.10511-1G>C) c.10664-1G>C (n.10664-1G>C) c.9569-1G>C (n.9569-1G>C) c.5753-1G>C (n.5753-1G>C) c.5306-1G>C (n.5306-1G>C) c.4643-1G>C (n.4643-1G>C) c.9158-1G>C (n.9158-1G>C) | |
| 5 | g.13753550C>T | CA3202181 | DNAH5 | c.10556-1G>A (n.10556-1G>A) c.10511-1G>A (n.10511-1G>A) c.10664-1G>A (n.10664-1G>A) c.9569-1G>A (n.9569-1G>A) c.5753-1G>A (n.5753-1G>A) c.5306-1G>A (n.5306-1G>A) c.4643-1G>A (n.4643-1G>A) c.9158-1G>A (n.9158-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13753551T>A | CA359192339 | DNAH5 | c.10556-2A>T (n.10556-2A>T) c.10511-2A>T (n.10511-2A>T) c.10664-2A>T (n.10664-2A>T) c.9569-2A>T (n.9569-2A>T) c.5753-2A>T (n.5753-2A>T) c.5306-2A>T (n.5306-2A>T) c.4643-2A>T (n.4643-2A>T) c.9158-2A>T (n.9158-2A>T) | |
| 5 | g.13753551T>C | CA359192340 | DNAH5 | c.10556-2A>G (n.10556-2A>G) c.10511-2A>G (n.10511-2A>G) c.10664-2A>G (n.10664-2A>G) c.9569-2A>G (n.9569-2A>G) c.5753-2A>G (n.5753-2A>G) c.5306-2A>G (n.5306-2A>G) c.4643-2A>G (n.4643-2A>G) c.9158-2A>G (n.9158-2A>G) | |
| 5 | g.13753551T>G | CA359192341 | DNAH5 | c.10556-2A>C (n.10556-2A>C) c.10511-2A>C (n.10511-2A>C) c.10664-2A>C (n.10664-2A>C) c.9569-2A>C (n.9569-2A>C) c.5753-2A>C (n.5753-2A>C) c.5306-2A>C (n.5306-2A>C) c.4643-2A>C (n.4643-2A>C) c.9158-2A>C (n.9158-2A>C) | |
| 5 | g.13753553A>C | CA2673270454 | DNAH5 | c.10556-4T>G (n.10556-4T>G) c.10511-4T>G (n.10511-4T>G) c.10664-4T>G (n.10664-4T>G) c.9569-4T>G (n.9569-4T>G) c.5753-4T>G (n.5753-4T>G) c.5306-4T>G (n.5306-4T>G) c.4643-4T>G (n.4643-4T>G) c.9158-4T>G (n.9158-4T>G) | gnomAD v4 |
| 5 | g.13753555A= | CA1528423560 | DNAH5 | c.10556-6T= (n.10556-6T=) c.10511-6T= (n.10511-6T=) c.10664-6T= (n.10664-6T=) c.9569-6T= (n.9569-6T=) c.5753-6T= (n.5753-6T=) c.5306-6T= (n.5306-6T=) c.4643-6T= (n.4643-6T=) c.9158-6T= (n.9158-6T=) | |
| 5 | g.13753555A>G | CA557876492 | DNAH5 | c.10556-6T>C (n.10556-6T>C) c.10511-6T>C (n.10511-6T>C) c.10664-6T>C (n.10664-6T>C) c.9569-6T>C (n.9569-6T>C) c.5753-6T>C (n.5753-6T>C) c.5306-6T>C (n.5306-6T>C) c.4643-6T>C (n.4643-6T>C) c.9158-6T>C (n.9158-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13753556T>C | CA113919205 | DNAH5 | c.10556-7A>G (n.10556-7A>G) c.10511-7A>G (n.10511-7A>G) c.10664-7A>G (n.10664-7A>G) c.9569-7A>G (n.9569-7A>G) c.5753-7A>G (n.5753-7A>G) c.5306-7A>G (n.5306-7A>G) c.4643-7A>G (n.4643-7A>G) c.9158-7A>G (n.9158-7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13753556T= | CA1528423561 | DNAH5 | c.10556-7A= (n.10556-7A=) c.10511-7A= (n.10511-7A=) c.10664-7A= (n.10664-7A=) c.9569-7A= (n.9569-7A=) c.5753-7A= (n.5753-7A=) c.5306-7A= (n.5306-7A=) c.4643-7A= (n.4643-7A=) c.9158-7A= (n.9158-7A=) | |
| 5 | g.13753557A>T | CA2526234942 | DNAH5 | c.10556-8T>A (n.10556-8T>A) c.10511-8T>A (n.10511-8T>A) c.10664-8T>A (n.10664-8T>A) c.9569-8T>A (n.9569-8T>A) c.5753-8T>A (n.5753-8T>A) c.5306-8T>A (n.5306-8T>A) c.4643-8T>A (n.4643-8T>A) c.9158-8T>A (n.9158-8T>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13753558G>C | CA2739274578 | DNAH5 | c.10556-9C>G (n.10556-9C>G) c.10511-9C>G (n.10511-9C>G) c.10664-9C>G (n.10664-9C>G) c.9569-9C>G (n.9569-9C>G) c.5753-9C>G (n.5753-9C>G) c.5306-9C>G (n.5306-9C>G) c.4643-9C>G (n.4643-9C>G) c.9158-9C>G (n.9158-9C>G) | ClinVar |
| 5 | g.13753558G= | CA1528423562 | DNAH5 | c.10556-9C= (n.10556-9C=) c.10511-9C= (n.10511-9C=) c.10664-9C= (n.10664-9C=) c.9569-9C= (n.9569-9C=) c.5753-9C= (n.5753-9C=) c.5306-9C= (n.5306-9C=) c.4643-9C= (n.4643-9C=) c.9158-9C= (n.9158-9C=) | |
| 5 | g.13753558G>T | CA1528423563 | DNAH5 | c.10556-9C>A (n.10556-9C>A) c.10511-9C>A (n.10511-9C>A) c.10664-9C>A (n.10664-9C>A) c.9569-9C>A (n.9569-9C>A) c.5753-9C>A (n.5753-9C>A) c.5306-9C>A (n.5306-9C>A) c.4643-9C>A (n.4643-9C>A) c.9158-9C>A (n.9158-9C>A) | dbSNP gnomAD v4 |
| 5 | g.13753559_13753563delinsAAAAC | CA1528423564 | DNAH5 | c.10556-14_10556-10delinsGTTTT (n.10556-14_10556-10delinsGTTTT) c.10511-14_10511-10delinsGTTTT (n.10511-14_10511-10delinsGTTTT) c.10664-14_10664-10delinsGTTTT (n.10664-14_10664-10delinsGTTTT) c.9569-14_9569-10delinsGTTTT (n.9569-14_9569-10delinsGTTTT) c.5753-14_5753-10delinsGTTTT (n.5753-14_5753-10delinsGTTTT) c.5306-14_5306-10delinsGTTTT (n.5306-14_5306-10delinsGTTTT) c.4643-14_4643-10delinsGTTTT (n.4643-14_4643-10delinsGTTTT) c.9158-14_9158-10delinsGTTTT (n.9158-14_9158-10delinsGTTTT) | |
| 5 | g.13753565_13753568del | CA1073401921 | DNAH5 | c.10556-14_10556-11del (n.10556-14_10556-11del) c.10511-14_10511-11del (n.10511-14_10511-11del) c.10664-14_10664-11del (n.10664-14_10664-11del) c.9569-14_9569-11del (n.9569-14_9569-11del) c.5753-14_5753-11del (n.5753-14_5753-11del) c.5306-14_5306-11del (n.5306-14_5306-11del) c.4643-14_4643-11del (n.4643-14_4643-11del) c.9158-14_9158-11del (n.9158-14_9158-11del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13753562A>G | CA649988937 | DNAH5 | c.10556-13T>C (n.10556-13T>C) c.10511-13T>C (n.10511-13T>C) c.10664-13T>C (n.10664-13T>C) c.9569-13T>C (n.9569-13T>C) c.5753-13T>C (n.5753-13T>C) c.5306-13T>C (n.5306-13T>C) c.4643-13T>C (n.4643-13T>C) c.9158-13T>C (n.9158-13T>C) | gnomAD v4 COSMIC |
| 5 | g.13753563C>T | CA2573138455 | DNAH5 | c.10556-14G>A (n.10556-14G>A) c.10511-14G>A (n.10511-14G>A) c.10664-14G>A (n.10664-14G>A) c.9569-14G>A (n.9569-14G>A) c.5753-14G>A (n.5753-14G>A) c.5306-14G>A (n.5306-14G>A) c.4643-14G>A (n.4643-14G>A) c.9158-14G>A (n.9158-14G>A) | ClinVar dbSNP |
| 5 | g.13753564A= | CA1528423565 | DNAH5 | c.10556-15T= (n.10556-15T=) c.10511-15T= (n.10511-15T=) c.10664-15T= (n.10664-15T=) c.9569-15T= (n.9569-15T=) c.5753-15T= (n.5753-15T=) c.5306-15T= (n.5306-15T=) c.4643-15T= (n.4643-15T=) c.9158-15T= (n.9158-15T=) | |
| 5 | g.13753564A>G | CA3202182 | DNAH5 | c.10556-15T>C (n.10556-15T>C) c.10511-15T>C (n.10511-15T>C) c.10664-15T>C (n.10664-15T>C) c.9569-15T>C (n.9569-15T>C) c.5753-15T>C (n.5753-15T>C) c.5306-15T>C (n.5306-15T>C) c.4643-15T>C (n.4643-15T>C) c.9158-15T>C (n.9158-15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13753566A= | CA1528423566 | DNAH5 | c.10556-17T= (n.10556-17T=) c.10511-17T= (n.10511-17T=) c.10664-17T= (n.10664-17T=) c.9569-17T= (n.9569-17T=) c.5753-17T= (n.5753-17T=) c.5306-17T= (n.5306-17T=) c.4643-17T= (n.4643-17T=) c.9158-17T= (n.9158-17T=) | |
| 5 | g.13753566A>G | CA2673270455 | DNAH5 | c.10556-17T>C (n.10556-17T>C) c.10511-17T>C (n.10511-17T>C) c.10664-17T>C (n.10664-17T>C) c.9569-17T>C (n.9569-17T>C) c.5753-17T>C (n.5753-17T>C) c.5306-17T>C (n.5306-17T>C) c.4643-17T>C (n.4643-17T>C) c.9158-17T>C (n.9158-17T>C) | gnomAD v4 |
| 5 | g.13753566A>T | CA557876493 | DNAH5 | c.10556-17T>A (n.10556-17T>A) c.10511-17T>A (n.10511-17T>A) c.10664-17T>A (n.10664-17T>A) c.9569-17T>A (n.9569-17T>A) c.5753-17T>A (n.5753-17T>A) c.5306-17T>A (n.5306-17T>A) c.4643-17T>A (n.4643-17T>A) c.9158-17T>A (n.9158-17T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753567C>A | CA2673270456 | DNAH5 | c.10556-18G>T (n.10556-18G>T) c.10511-18G>T (n.10511-18G>T) c.10664-18G>T (n.10664-18G>T) c.9569-18G>T (n.9569-18G>T) c.5753-18G>T (n.5753-18G>T) c.5306-18G>T (n.5306-18G>T) c.4643-18G>T (n.4643-18G>T) c.9158-18G>T (n.9158-18G>T) | gnomAD v4 |
| 5 | g.13753567C= | CA1528423567 | DNAH5 | c.10556-18G= (n.10556-18G=) c.10511-18G= (n.10511-18G=) c.10664-18G= (n.10664-18G=) c.9569-18G= (n.9569-18G=) c.5753-18G= (n.5753-18G=) c.5306-18G= (n.5306-18G=) c.4643-18G= (n.4643-18G=) c.9158-18G= (n.9158-18G=) | |
| 5 | g.13753567C>G | CA3202183 | DNAH5 | c.10556-18G>C (n.10556-18G>C) c.10511-18G>C (n.10511-18G>C) c.10664-18G>C (n.10664-18G>C) c.9569-18G>C (n.9569-18G>C) c.5753-18G>C (n.5753-18G>C) c.5306-18G>C (n.5306-18G>C) c.4643-18G>C (n.4643-18G>C) c.9158-18G>C (n.9158-18G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13753567C>T | CA557876494 | DNAH5 | c.10556-18G>A (n.10556-18G>A) c.10511-18G>A (n.10511-18G>A) c.10664-18G>A (n.10664-18G>A) c.9569-18G>A (n.9569-18G>A) c.5753-18G>A (n.5753-18G>A) c.5306-18G>A (n.5306-18G>A) c.4643-18G>A (n.4643-18G>A) c.9158-18G>A (n.9158-18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13753568A= | CA1528423568 | DNAH5 | c.10556-19T= (n.10556-19T=) c.10511-19T= (n.10511-19T=) c.10664-19T= (n.10664-19T=) c.9569-19T= (n.9569-19T=) c.5753-19T= (n.5753-19T=) c.5306-19T= (n.5306-19T=) c.4643-19T= (n.4643-19T=) c.9158-19T= (n.9158-19T=) | |
| 5 | g.13753568A>G | CA557876495 | DNAH5 | c.10556-19T>C (n.10556-19T>C) c.10511-19T>C (n.10511-19T>C) c.10664-19T>C (n.10664-19T>C) c.9569-19T>C (n.9569-19T>C) c.5753-19T>C (n.5753-19T>C) c.5306-19T>C (n.5306-19T>C) c.4643-19T>C (n.4643-19T>C) c.9158-19T>C (n.9158-19T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13753570C>A | CA2673270457 | DNAH5 | c.10556-21G>T (n.10556-21G>T) c.10511-21G>T (n.10511-21G>T) c.10664-21G>T (n.10664-21G>T) c.9569-21G>T (n.9569-21G>T) c.5753-21G>T (n.5753-21G>T) c.5306-21G>T (n.5306-21G>T) c.4643-21G>T (n.4643-21G>T) c.9158-21G>T (n.9158-21G>T) | gnomAD v4 |
| 5 | g.13753572T>C | CA3202184 | DNAH5 | c.10556-23A>G (n.10556-23A>G) c.10511-23A>G (n.10511-23A>G) c.10664-23A>G (n.10664-23A>G) c.9569-23A>G (n.9569-23A>G) c.5753-23A>G (n.5753-23A>G) c.5306-23A>G (n.5306-23A>G) c.4643-23A>G (n.4643-23A>G) c.9158-23A>G (n.9158-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753572T= | CA1528423569 | DNAH5 | c.10556-23A= (n.10556-23A=) c.10511-23A= (n.10511-23A=) c.10664-23A= (n.10664-23A=) c.9569-23A= (n.9569-23A=) c.5753-23A= (n.5753-23A=) c.5306-23A= (n.5306-23A=) c.4643-23A= (n.4643-23A=) c.9158-23A= (n.9158-23A=) | |
| 5 | g.13753573T>A | CA557876496 | DNAH5 | c.10556-24A>T (n.10556-24A>T) c.10511-24A>T (n.10511-24A>T) c.10664-24A>T (n.10664-24A>T) c.9569-24A>T (n.9569-24A>T) c.5753-24A>T (n.5753-24A>T) c.5306-24A>T (n.5306-24A>T) c.4643-24A>T (n.4643-24A>T) c.9158-24A>T (n.9158-24A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13753573T>C | CA2673270458 | DNAH5 | c.10556-24A>G (n.10556-24A>G) c.10511-24A>G (n.10511-24A>G) c.10664-24A>G (n.10664-24A>G) c.9569-24A>G (n.9569-24A>G) c.5753-24A>G (n.5753-24A>G) c.5306-24A>G (n.5306-24A>G) c.4643-24A>G (n.4643-24A>G) c.9158-24A>G (n.9158-24A>G) | gnomAD v4 |
| 5 | g.13753573T= | CA1528423570 | DNAH5 | c.10556-24A= (n.10556-24A=) c.10511-24A= (n.10511-24A=) c.10664-24A= (n.10664-24A=) c.9569-24A= (n.9569-24A=) c.5753-24A= (n.5753-24A=) c.5306-24A= (n.5306-24A=) c.4643-24A= (n.4643-24A=) c.9158-24A= (n.9158-24A=) | |
| 5 | g.13753574del | CA2578269854 | DNAH5 | c.10556-25del (n.10556-25del) c.10511-25del (n.10511-25del) c.10664-25del (n.10664-25del) c.9569-25del (n.9569-25del) c.5753-25del (n.5753-25del) c.5306-25del (n.5306-25del) c.4643-25del (n.4643-25del) c.9158-25del (n.9158-25del) | |
| 5 | g.13753574G>T | CA2673270459 | DNAH5 | c.10556-25C>A (n.10556-25C>A) c.10511-25C>A (n.10511-25C>A) c.10664-25C>A (n.10664-25C>A) c.9569-25C>A (n.9569-25C>A) c.5753-25C>A (n.5753-25C>A) c.5306-25C>A (n.5306-25C>A) c.4643-25C>A (n.4643-25C>A) c.9158-25C>A (n.9158-25C>A) | gnomAD v4 |
| 5 | g.13753577A>C | CA2673270460 | DNAH5 | c.10556-28T>G (n.10556-28T>G) c.10511-28T>G (n.10511-28T>G) c.10664-28T>G (n.10664-28T>G) c.9569-28T>G (n.9569-28T>G) c.5753-28T>G (n.5753-28T>G) c.5306-28T>G (n.5306-28T>G) c.4643-28T>G (n.4643-28T>G) c.9158-28T>G (n.9158-28T>G) | gnomAD v4 |
| 5 | g.13753577A>G | CA2673270461 | DNAH5 | c.10556-28T>C (n.10556-28T>C) c.10511-28T>C (n.10511-28T>C) c.10664-28T>C (n.10664-28T>C) c.9569-28T>C (n.9569-28T>C) c.5753-28T>C (n.5753-28T>C) c.5306-28T>C (n.5306-28T>C) c.4643-28T>C (n.4643-28T>C) c.9158-28T>C (n.9158-28T>C) | gnomAD v4 |
| 5 | g.13753579A>G | CA2673270462 | DNAH5 | c.10556-30T>C (n.10556-30T>C) c.10511-30T>C (n.10511-30T>C) c.10664-30T>C (n.10664-30T>C) c.9569-30T>C (n.9569-30T>C) c.5753-30T>C (n.5753-30T>C) c.5306-30T>C (n.5306-30T>C) c.4643-30T>C (n.4643-30T>C) c.9158-30T>C (n.9158-30T>C) | gnomAD v4 |
| 5 | g.13753580C>A | CA2673270463 | DNAH5 | c.10556-31G>T (n.10556-31G>T) c.10511-31G>T (n.10511-31G>T) c.10664-31G>T (n.10664-31G>T) c.9569-31G>T (n.9569-31G>T) c.5753-31G>T (n.5753-31G>T) c.5306-31G>T (n.5306-31G>T) c.4643-31G>T (n.4643-31G>T) c.9158-31G>T (n.9158-31G>T) | gnomAD v4 |
| 5 | g.13753580C>T | CA2673270464 | DNAH5 | c.10556-31G>A (n.10556-31G>A) c.10511-31G>A (n.10511-31G>A) c.10664-31G>A (n.10664-31G>A) c.9569-31G>A (n.9569-31G>A) c.5753-31G>A (n.5753-31G>A) c.5306-31G>A (n.5306-31G>A) c.4643-31G>A (n.4643-31G>A) c.9158-31G>A (n.9158-31G>A) | gnomAD v4 |
| 5 | g.13753583T>C | CA2673270465 | DNAH5 | c.10556-34A>G (n.10556-34A>G) c.10511-34A>G (n.10511-34A>G) c.10664-34A>G (n.10664-34A>G) c.9569-34A>G (n.9569-34A>G) c.5753-34A>G (n.5753-34A>G) c.5306-34A>G (n.5306-34A>G) c.4643-34A>G (n.4643-34A>G) c.9158-34A>G (n.9158-34A>G) | gnomAD v4 |
| 5 | g.13753585C= | CA1528423571 | DNAH5 | c.10556-36G= (n.10556-36G=) c.10511-36G= (n.10511-36G=) c.10664-36G= (n.10664-36G=) c.9569-36G= (n.9569-36G=) c.5753-36G= (n.5753-36G=) c.5306-36G= (n.5306-36G=) c.4643-36G= (n.4643-36G=) c.9158-36G= (n.9158-36G=) | |
| 5 | g.13753585C>T | CA3202185 | DNAH5 | c.10556-36G>A (n.10556-36G>A) c.10511-36G>A (n.10511-36G>A) c.10664-36G>A (n.10664-36G>A) c.9569-36G>A (n.9569-36G>A) c.5753-36G>A (n.5753-36G>A) c.5306-36G>A (n.5306-36G>A) c.4643-36G>A (n.4643-36G>A) c.9158-36G>A (n.9158-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753586G>A | CA3202186 | DNAH5 | c.10556-37C>T (n.10556-37C>T) c.10511-37C>T (n.10511-37C>T) c.10664-37C>T (n.10664-37C>T) c.9569-37C>T (n.9569-37C>T) c.5753-37C>T (n.5753-37C>T) c.5306-37C>T (n.5306-37C>T) c.4643-37C>T (n.4643-37C>T) c.9158-37C>T (n.9158-37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753586G= | CA1528423572 | DNAH5 | c.10556-37C= (n.10556-37C=) c.10511-37C= (n.10511-37C=) c.10664-37C= (n.10664-37C=) c.9569-37C= (n.9569-37C=) c.5753-37C= (n.5753-37C=) c.5306-37C= (n.5306-37C=) c.4643-37C= (n.4643-37C=) c.9158-37C= (n.9158-37C=) | |
| 5 | g.13753586G>T | CA1528423573 | DNAH5 | c.10556-37C>A (n.10556-37C>A) c.10511-37C>A (n.10511-37C>A) c.10664-37C>A (n.10664-37C>A) c.9569-37C>A (n.9569-37C>A) c.5753-37C>A (n.5753-37C>A) c.5306-37C>A (n.5306-37C>A) c.4643-37C>A (n.4643-37C>A) c.9158-37C>A (n.9158-37C>A) | dbSNP gnomAD v4 |
| 5 | g.13753587T>A | CA3202187 | DNAH5 | c.10556-38A>T (n.10556-38A>T) c.10511-38A>T (n.10511-38A>T) c.10664-38A>T (n.10664-38A>T) c.9569-38A>T (n.9569-38A>T) c.5753-38A>T (n.5753-38A>T) c.5306-38A>T (n.5306-38A>T) c.4643-38A>T (n.4643-38A>T) c.9158-38A>T (n.9158-38A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13753587T>C | CA1528423575 | DNAH5 | c.10556-38A>G (n.10556-38A>G) c.10511-38A>G (n.10511-38A>G) c.10664-38A>G (n.10664-38A>G) c.9569-38A>G (n.9569-38A>G) c.5753-38A>G (n.5753-38A>G) c.5306-38A>G (n.5306-38A>G) c.4643-38A>G (n.4643-38A>G) c.9158-38A>G (n.9158-38A>G) | dbSNP |
| 5 | g.13753587T>G | CA1528423576 | DNAH5 | c.10556-38A>C (n.10556-38A>C) c.10511-38A>C (n.10511-38A>C) c.10664-38A>C (n.10664-38A>C) c.9569-38A>C (n.9569-38A>C) c.5753-38A>C (n.5753-38A>C) c.5306-38A>C (n.5306-38A>C) c.4643-38A>C (n.4643-38A>C) c.9158-38A>C (n.9158-38A>C) | dbSNP |
| 5 | g.13753587T= | CA1528423574 | DNAH5 | c.10556-38A= (n.10556-38A=) c.10511-38A= (n.10511-38A=) c.10664-38A= (n.10664-38A=) c.9569-38A= (n.9569-38A=) c.5753-38A= (n.5753-38A=) c.5306-38A= (n.5306-38A=) c.4643-38A= (n.4643-38A=) c.9158-38A= (n.9158-38A=) | |
| 5 | g.13753590A= | CA1528423577 | DNAH5 | c.10556-41T= (n.10556-41T=) c.10511-41T= (n.10511-41T=) c.10664-41T= (n.10664-41T=) c.9569-41T= (n.9569-41T=) c.5753-41T= (n.5753-41T=) c.5306-41T= (n.5306-41T=) c.4643-41T= (n.4643-41T=) c.9158-41T= (n.9158-41T=) | |
| 5 | g.13753590A>G | CA557876497 | DNAH5 | c.10556-41T>C (n.10556-41T>C) c.10511-41T>C (n.10511-41T>C) c.10664-41T>C (n.10664-41T>C) c.9569-41T>C (n.9569-41T>C) c.5753-41T>C (n.5753-41T>C) c.5306-41T>C (n.5306-41T>C) c.4643-41T>C (n.4643-41T>C) c.9158-41T>C (n.9158-41T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13753591T>C | CA557876498 | DNAH5 | c.10556-42A>G (n.10556-42A>G) c.10511-42A>G (n.10511-42A>G) c.10664-42A>G (n.10664-42A>G) c.9569-42A>G (n.9569-42A>G) c.5753-42A>G (n.5753-42A>G) c.5306-42A>G (n.5306-42A>G) c.4643-42A>G (n.4643-42A>G) c.9158-42A>G (n.9158-42A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13753591T= | CA1528423578 | DNAH5 | c.10556-42A= (n.10556-42A=) c.10511-42A= (n.10511-42A=) c.10664-42A= (n.10664-42A=) c.9569-42A= (n.9569-42A=) c.5753-42A= (n.5753-42A=) c.5306-42A= (n.5306-42A=) c.4643-42A= (n.4643-42A=) c.9158-42A= (n.9158-42A=) | |
| 5 | g.13753592C>A | CA2673270467 | DNAH5 | c.10556-43G>T (n.10556-43G>T) c.10511-43G>T (n.10511-43G>T) c.10664-43G>T (n.10664-43G>T) c.9569-43G>T (n.9569-43G>T) c.5753-43G>T (n.5753-43G>T) c.5306-43G>T (n.5306-43G>T) c.4643-43G>T (n.4643-43G>T) c.9158-43G>T (n.9158-43G>T) | gnomAD v4 |
| 5 | g.13753592_13753594del | CA2673270466 | DNAH5 | c.10556-45_10556-43del (n.10556-45_10556-43del) c.10511-45_10511-43del (n.10511-45_10511-43del) c.10664-45_10664-43del (n.10664-45_10664-43del) c.9569-45_9569-43del (n.9569-45_9569-43del) c.5753-45_5753-43del (n.5753-45_5753-43del) c.5306-45_5306-43del (n.5306-45_5306-43del) c.4643-45_4643-43del (n.4643-45_4643-43del) c.9158-45_9158-43del (n.9158-45_9158-43del) | gnomAD v4 |
| 5 | g.13753593C>A | CA2673270468 | DNAH5 | c.10556-44G>T (n.10556-44G>T) c.10511-44G>T (n.10511-44G>T) c.10664-44G>T (n.10664-44G>T) c.9569-44G>T (n.9569-44G>T) c.5753-44G>T (n.5753-44G>T) c.5306-44G>T (n.5306-44G>T) c.4643-44G>T (n.4643-44G>T) c.9158-44G>T (n.9158-44G>T) | gnomAD v4 |
| 5 | g.13753593C= | CA1528423579 | DNAH5 | c.10556-44G= (n.10556-44G=) c.10511-44G= (n.10511-44G=) c.10664-44G= (n.10664-44G=) c.9569-44G= (n.9569-44G=) c.5753-44G= (n.5753-44G=) c.5306-44G= (n.5306-44G=) c.4643-44G= (n.4643-44G=) c.9158-44G= (n.9158-44G=) | |
| 5 | g.13753593C>T | CA3202188 | DNAH5 | c.10556-44G>A (n.10556-44G>A) c.10511-44G>A (n.10511-44G>A) c.10664-44G>A (n.10664-44G>A) c.9569-44G>A (n.9569-44G>A) c.5753-44G>A (n.5753-44G>A) c.5306-44G>A (n.5306-44G>A) c.4643-44G>A (n.4643-44G>A) c.9158-44G>A (n.9158-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753594G>A | CA3202189 | DNAH5 | c.10556-45C>T (n.10556-45C>T) c.10511-45C>T (n.10511-45C>T) c.10664-45C>T (n.10664-45C>T) c.9569-45C>T (n.9569-45C>T) c.5753-45C>T (n.5753-45C>T) c.5306-45C>T (n.5306-45C>T) c.4643-45C>T (n.4643-45C>T) c.9158-45C>T (n.9158-45C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13753594G= | CA1528423580 | DNAH5 | c.10556-45C= (n.10556-45C=) c.10511-45C= (n.10511-45C=) c.10664-45C= (n.10664-45C=) c.9569-45C= (n.9569-45C=) c.5753-45C= (n.5753-45C=) c.5306-45C= (n.5306-45C=) c.4643-45C= (n.4643-45C=) c.9158-45C= (n.9158-45C=) | |
| 5 | g.13753594G>T | CA2578269855 | DNAH5 | c.10556-45C>A (n.10556-45C>A) c.10511-45C>A (n.10511-45C>A) c.10664-45C>A (n.10664-45C>A) c.9569-45C>A (n.9569-45C>A) c.5753-45C>A (n.5753-45C>A) c.5306-45C>A (n.5306-45C>A) c.4643-45C>A (n.4643-45C>A) c.9158-45C>A (n.9158-45C>A) | dbSNP gnomAD v4 |
| 5 | g.13753595T>A | CA3202190 | DNAH5 | c.10556-46A>T (n.10556-46A>T) c.10511-46A>T (n.10511-46A>T) c.10664-46A>T (n.10664-46A>T) c.9569-46A>T (n.9569-46A>T) c.5753-46A>T (n.5753-46A>T) c.5306-46A>T (n.5306-46A>T) c.4643-46A>T (n.4643-46A>T) c.9158-46A>T (n.9158-46A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753595T= | CA1528423581 | DNAH5 | c.10556-46A= (n.10556-46A=) c.10511-46A= (n.10511-46A=) c.10664-46A= (n.10664-46A=) c.9569-46A= (n.9569-46A=) c.5753-46A= (n.5753-46A=) c.5306-46A= (n.5306-46A=) c.4643-46A= (n.4643-46A=) c.9158-46A= (n.9158-46A=) |