WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13829517_13829529delinsGAAAGCTGCTCCT | CA1528458053 | DNAH5 | n.1356_1368delinsAGGAGCAGCTTTC c.6425_6437delinsAGGAGCAGCTTTC (p.Glu2142=) c.6380_6392delinsAGGAGCAGCTTTC (p.Glu2127=) n.6632_6644delinsAGGAGCAGCTTTC c.6533_6545delinsAGGAGCAGCTTTC (p.Glu2178=) c.5438_5450delinsAGGAGCAGCTTTC (p.Glu1813=) c.1622_1634delinsAGGAGCAGCTTTC (p.Glu541=) c.1175_1187delinsAGGAGCAGCTTTC (p.Glu392=) c.512_524delinsAGGAGCAGCTTTC (p.Glu171=) c.5027_5039delinsAGGAGCAGCTTTC (p.Glu1676=) n.6550_6562delinsAGGAGCAGCTTTC | |
| 5 | g.13829518_13829529del | CA1528458054 | DNAH5 | n.1356_1367del c.6425_6436del (p.Glu2142_Ser2146delinsAla) c.6380_6391del (p.Glu2127_Ser2131delinsAla) n.6632_6643del c.6533_6544del (p.Glu2178_Ser2182delinsAla) c.5438_5449del (p.Glu1813_Ser1817delinsAla) c.1622_1633del (p.Glu541_Ser545delinsAla) c.1175_1186del (p.Glu392_Ser396delinsAla) c.512_523del (p.Glu171_Ser175delinsAla) c.5027_5038del (p.Glu1676_Ser1680delinsAla) n.6550_6561del | dbSNP |
| 5 | g.13829519A>C | CA443251329 | DNAH5 | n.1366T>G c.6435T>G (p.Leu2145=) c.6390T>G (p.Leu2130=) n.6642T>G c.6543T>G (p.Leu2181=) c.5448T>G (p.Leu1816=) c.1632T>G (p.Leu544=) c.1185T>G (p.Leu395=) c.522T>G (p.Leu174=) c.5037T>G (p.Leu1679=) n.6560T>G | |
| 5 | g.13829519A>G | CA443251330 | DNAH5 | n.1366T>C c.6435T>C (p.Leu2145=) c.6390T>C (p.Leu2130=) n.6642T>C c.6543T>C (p.Leu2181=) c.5448T>C (p.Leu1816=) c.1632T>C (p.Leu544=) c.1185T>C (p.Leu395=) c.522T>C (p.Leu174=) c.5037T>C (p.Leu1679=) n.6560T>C | |
| 5 | g.13829519A>T | CA443251328 | DNAH5 | n.1366T>A c.6435T>A (p.Leu2145=) c.6390T>A (p.Leu2130=) n.6642T>A c.6543T>A (p.Leu2181=) c.5448T>A (p.Leu1816=) c.1632T>A (p.Leu544=) c.1185T>A (p.Leu395=) c.522T>A (p.Leu174=) c.5037T>A (p.Leu1679=) n.6560T>A | |
| 5 | g.13829520A>C | CA359199350 | DNAH5 | n.1365T>G c.6434T>G (p.Leu2145Arg) c.6389T>G (p.Leu2130Arg) n.6641T>G c.6542T>G (p.Leu2181Arg) c.5447T>G (p.Leu1816Arg) c.1631T>G (p.Leu544Arg) c.1184T>G (p.Leu395Arg) c.521T>G (p.Leu174Arg) c.5036T>G (p.Leu1679Arg) n.6559T>G | |
| 5 | g.13829520A>G | CA359199351 | DNAH5 | n.1365T>C c.6434T>C (p.Leu2145Pro) c.6389T>C (p.Leu2130Pro) n.6641T>C c.6542T>C (p.Leu2181Pro) c.5447T>C (p.Leu1816Pro) c.1631T>C (p.Leu544Pro) c.1184T>C (p.Leu395Pro) c.521T>C (p.Leu174Pro) c.5036T>C (p.Leu1679Pro) n.6559T>C | |
| 5 | g.13829520A>T | CA359199352 | DNAH5 | n.1365T>A c.6434T>A (p.Leu2145His) c.6389T>A (p.Leu2130His) n.6641T>A c.6542T>A (p.Leu2181His) c.5447T>A (p.Leu1816His) c.1631T>A (p.Leu544His) c.1184T>A (p.Leu395His) c.521T>A (p.Leu174His) c.5036T>A (p.Leu1679His) n.6559T>A | |
| 5 | g.13829521G>A | CA359199355 | DNAH5 | n.1364C>T c.6433C>T (p.Leu2145Phe) c.6388C>T (p.Leu2130Phe) n.6640C>T c.6541C>T (p.Leu2181Phe) c.5446C>T (p.Leu1816Phe) c.1630C>T (p.Leu544Phe) c.1183C>T (p.Leu395Phe) c.520C>T (p.Leu174Phe) c.5035C>T (p.Leu1679Phe) n.6558C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13829521G>C | CA359199361 | DNAH5 | n.1364C>G c.6433C>G (p.Leu2145Val) c.6388C>G (p.Leu2130Val) n.6640C>G c.6541C>G (p.Leu2181Val) c.5446C>G (p.Leu1816Val) c.1630C>G (p.Leu544Val) c.1183C>G (p.Leu395Val) c.520C>G (p.Leu174Val) c.5035C>G (p.Leu1679Val) n.6558C>G | |
| 5 | g.13829521G= | CA1528458056 | DNAH5 | n.1364C= c.6433C= (p.Leu2145=) c.6388C= (p.Leu2130=) n.6640C= c.6541C= (p.Leu2181=) c.5446C= (p.Leu1816=) c.1630C= (p.Leu544=) c.1183C= (p.Leu395=) c.520C= (p.Leu174=) c.5035C= (p.Leu1679=) n.6558C= | |
| 5 | g.13829521G>T | CA359199369 | DNAH5 | n.1364C>A c.6433C>A (p.Leu2145Ile) c.6388C>A (p.Leu2130Ile) n.6640C>A c.6541C>A (p.Leu2181Ile) c.5446C>A (p.Leu1816Ile) c.1630C>A (p.Leu544Ile) c.1183C>A (p.Leu395Ile) c.520C>A (p.Leu174Ile) c.5035C>A (p.Leu1679Ile) n.6558C>A | |
| 5 | g.13829522C>A | CA359199370 | DNAH5 | n.1363G>T c.6432G>T (p.Gln2144His) c.6387G>T (p.Gln2129His) n.6639G>T c.6540G>T (p.Gln2180His) c.5445G>T (p.Gln1815His) c.1629G>T (p.Gln543His) c.1182G>T (p.Gln394His) c.519G>T (p.Gln173His) c.5034G>T (p.Gln1678His) n.6557G>T | COSMIC |
| 5 | g.13829522C= | CA1528458057 | DNAH5 | n.1363G= c.6432G= (p.Gln2144=) c.6387G= (p.Gln2129=) n.6639G= c.6540G= (p.Gln2180=) c.5445G= (p.Gln1815=) c.1629G= (p.Gln543=) c.1182G= (p.Gln394=) c.519G= (p.Gln173=) c.5034G= (p.Gln1678=) n.6557G= | |
| 5 | g.13829522C>G | CA359199371 | DNAH5 | n.1363G>C c.6432G>C (p.Gln2144His) c.6387G>C (p.Gln2129His) n.6639G>C c.6540G>C (p.Gln2180His) c.5445G>C (p.Gln1815His) c.1629G>C (p.Gln543His) c.1182G>C (p.Gln394His) c.519G>C (p.Gln173His) c.5034G>C (p.Gln1678His) n.6557G>C | dbSNP |
| 5 | g.13829522C>T | CA443251335 | DNAH5 | n.1363G>A c.6432G>A (p.Gln2144=) c.6387G>A (p.Gln2129=) n.6639G>A c.6540G>A (p.Gln2180=) c.5445G>A (p.Gln1815=) c.1629G>A (p.Gln543=) c.1182G>A (p.Gln394=) c.519G>A (p.Gln173=) c.5034G>A (p.Gln1678=) n.6557G>A | |
| 5 | g.13829523T>A | CA359199377 | DNAH5 | n.1362A>T c.6431A>T (p.Gln2144Leu) c.6386A>T (p.Gln2129Leu) n.6638A>T c.6539A>T (p.Gln2180Leu) c.5444A>T (p.Gln1815Leu) c.1628A>T (p.Gln543Leu) c.1181A>T (p.Gln394Leu) c.518A>T (p.Gln173Leu) c.5033A>T (p.Gln1678Leu) n.6556A>T | |
| 5 | g.13829523T>C | CA359199381 | DNAH5 | n.1362A>G c.6431A>G (p.Gln2144Arg) c.6386A>G (p.Gln2129Arg) n.6638A>G c.6539A>G (p.Gln2180Arg) c.5444A>G (p.Gln1815Arg) c.1628A>G (p.Gln543Arg) c.1181A>G (p.Gln394Arg) c.518A>G (p.Gln173Arg) c.5033A>G (p.Gln1678Arg) n.6556A>G | gnomAD v4 |
| 5 | g.13829523T>G | CA359199374 | DNAH5 | n.1362A>C c.6431A>C (p.Gln2144Pro) c.6386A>C (p.Gln2129Pro) n.6638A>C c.6539A>C (p.Gln2180Pro) c.5444A>C (p.Gln1815Pro) c.1628A>C (p.Gln543Pro) c.1181A>C (p.Gln394Pro) c.518A>C (p.Gln173Pro) c.5033A>C (p.Gln1678Pro) n.6556A>C | |
| 5 | g.13829524G>A | CA3203409 | DNAH5 | n.1361C>T c.6430C>T (p.Gln2144Ter) c.6385C>T (p.Gln2129Ter) n.6637C>T c.6538C>T (p.Gln2180Ter) c.5443C>T (p.Gln1815Ter) c.1627C>T (p.Gln543Ter) c.1180C>T (p.Gln394Ter) c.517C>T (p.Gln173Ter) c.5032C>T (p.Gln1678Ter) n.6555C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13829524G>C | CA359199387 | DNAH5 | n.1361C>G c.6430C>G (p.Gln2144Glu) c.6385C>G (p.Gln2129Glu) n.6637C>G c.6538C>G (p.Gln2180Glu) c.5443C>G (p.Gln1815Glu) c.1627C>G (p.Gln543Glu) c.1180C>G (p.Gln394Glu) c.517C>G (p.Gln173Glu) c.5032C>G (p.Gln1678Glu) n.6555C>G | |
| 5 | g.13829524G= | CA1528458058 | DNAH5 | n.1361C= c.6430C= (p.Gln2144=) c.6385C= (p.Gln2129=) n.6637C= c.6538C= (p.Gln2180=) c.5443C= (p.Gln1815=) c.1627C= (p.Gln543=) c.1180C= (p.Gln394=) c.517C= (p.Gln173=) c.5032C= (p.Gln1678=) n.6555C= | |
| 5 | g.13829524G>T | CA359199394 | DNAH5 | n.1361C>A c.6430C>A (p.Gln2144Lys) c.6385C>A (p.Gln2129Lys) n.6637C>A c.6538C>A (p.Gln2180Lys) c.5443C>A (p.Gln1815Lys) c.1627C>A (p.Gln543Lys) c.1180C>A (p.Gln394Lys) c.517C>A (p.Gln173Lys) c.5032C>A (p.Gln1678Lys) n.6555C>A | gnomAD v4 |
| 5 | g.13829525C>A | CA359199396 | DNAH5 | n.1360G>T c.6429G>T (p.Glu2143Asp) c.6384G>T (p.Glu2128Asp) n.6636G>T c.6537G>T (p.Glu2179Asp) c.5442G>T (p.Glu1814Asp) c.1626G>T (p.Glu542Asp) c.1179G>T (p.Glu393Asp) c.516G>T (p.Glu172Asp) c.5031G>T (p.Glu1677Asp) n.6554G>T | |
| 5 | g.13829525C>G | CA359199397 | DNAH5 | n.1360G>C c.6429G>C (p.Glu2143Asp) c.6384G>C (p.Glu2128Asp) n.6636G>C c.6537G>C (p.Glu2179Asp) c.5442G>C (p.Glu1814Asp) c.1626G>C (p.Glu542Asp) c.1179G>C (p.Glu393Asp) c.516G>C (p.Glu172Asp) c.5031G>C (p.Glu1677Asp) n.6554G>C | |
| 5 | g.13829525C>T | CA443251338 | DNAH5 | n.1360G>A c.6429G>A (p.Glu2143=) c.6384G>A (p.Glu2128=) n.6636G>A c.6537G>A (p.Glu2179=) c.5442G>A (p.Glu1814=) c.1626G>A (p.Glu542=) c.1179G>A (p.Glu393=) c.516G>A (p.Glu172=) c.5031G>A (p.Glu1677=) n.6554G>A | gnomAD v4 |
| 5 | g.13829528_13829530dup | CA1528458059 | DNAH5 | n.1358_1360dup c.6427_6429dup (p.Glu2143_Gln2144insGlu) c.6382_6384dup (p.Glu2128_Gln2129insGlu) n.6634_6636dup c.6535_6537dup (p.Glu2179_Gln2180insGlu) c.5440_5442dup (p.Glu1814_Gln1815insGlu) c.1624_1626dup (p.Glu542_Gln543insGlu) c.1177_1179dup (p.Glu393_Gln394insGlu) c.514_516dup (p.Glu172_Gln173insGlu) c.5029_5031dup (p.Glu1677_Gln1678insGlu) n.6552_6554dup | dbSNP |
| 5 | g.13829526T>A | CA3203410 | DNAH5 | n.1359A>T c.6428A>T (p.Glu2143Val) c.6383A>T (p.Glu2128Val) n.6635A>T c.6536A>T (p.Glu2179Val) c.5441A>T (p.Glu1814Val) c.1625A>T (p.Glu542Val) c.1178A>T (p.Glu393Val) c.515A>T (p.Glu172Val) c.5030A>T (p.Glu1677Val) n.6553A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13829526T>C | CA359199399 | DNAH5 | n.1359A>G c.6428A>G (p.Glu2143Gly) c.6383A>G (p.Glu2128Gly) n.6635A>G c.6536A>G (p.Glu2179Gly) c.5441A>G (p.Glu1814Gly) c.1625A>G (p.Glu542Gly) c.1178A>G (p.Glu393Gly) c.515A>G (p.Glu172Gly) c.5030A>G (p.Glu1677Gly) n.6553A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13829526T>G | CA359199400 | DNAH5 | n.1359A>C c.6428A>C (p.Glu2143Ala) c.6383A>C (p.Glu2128Ala) n.6635A>C c.6536A>C (p.Glu2179Ala) c.5441A>C (p.Glu1814Ala) c.1625A>C (p.Glu542Ala) c.1178A>C (p.Glu393Ala) c.515A>C (p.Glu172Ala) c.5030A>C (p.Glu1677Ala) n.6553A>C | |
| 5 | g.13829526T= | CA1528458060 | DNAH5 | n.1359A= c.6428A= (p.Glu2143=) c.6383A= (p.Glu2128=) n.6635A= c.6536A= (p.Glu2179=) c.5441A= (p.Glu1814=) c.1625A= (p.Glu542=) c.1178A= (p.Glu393=) c.515A= (p.Glu172=) c.5030A= (p.Glu1677=) n.6553A= | |
| 5 | g.13829527C>A | CA16618118 | DNAH5 | n.1358G>T c.6427G>T (p.Glu2143Ter) c.6382G>T (p.Glu2128Ter) n.6634G>T c.6535G>T (p.Glu2179Ter) c.5440G>T (p.Glu1814Ter) c.1624G>T (p.Glu542Ter) c.1177G>T (p.Glu393Ter) c.514G>T (p.Glu172Ter) c.5029G>T (p.Glu1677Ter) n.6552G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13829527C= | CA1528458061 | DNAH5 | n.1358G= c.6427G= (p.Glu2143=) c.6382G= (p.Glu2128=) n.6634G= c.6535G= (p.Glu2179=) c.5440G= (p.Glu1814=) c.1624G= (p.Glu542=) c.1177G= (p.Glu393=) c.514G= (p.Glu172=) c.5029G= (p.Glu1677=) n.6552G= | |
| 5 | g.13829527C>G | CA359199403 | DNAH5 | n.1358G>C c.6427G>C (p.Glu2143Gln) c.6382G>C (p.Glu2128Gln) n.6634G>C c.6535G>C (p.Glu2179Gln) c.5440G>C (p.Glu1814Gln) c.1624G>C (p.Glu542Gln) c.1177G>C (p.Glu393Gln) c.514G>C (p.Glu172Gln) c.5029G>C (p.Glu1677Gln) n.6552G>C | |
| 5 | g.13829527C>T | CA359199405 | DNAH5 | n.1358G>A c.6427G>A (p.Glu2143Lys) c.6382G>A (p.Glu2128Lys) n.6634G>A c.6535G>A (p.Glu2179Lys) c.5440G>A (p.Glu1814Lys) c.1624G>A (p.Glu542Lys) c.1177G>A (p.Glu393Lys) c.514G>A (p.Glu172Lys) c.5029G>A (p.Glu1677Lys) n.6552G>A | |
| 5 | g.13829528C>A | CA359199409 | DNAH5 | n.1357G>T c.6426G>T (p.Glu2142Asp) c.6381G>T (p.Glu2127Asp) n.6633G>T c.6534G>T (p.Glu2178Asp) c.5439G>T (p.Glu1813Asp) c.1623G>T (p.Glu541Asp) c.1176G>T (p.Glu392Asp) c.513G>T (p.Glu171Asp) c.5028G>T (p.Glu1676Asp) n.6551G>T | |
| 5 | g.13829528C= | CA1528458062 | DNAH5 | n.1357G= c.6426G= (p.Glu2142=) c.6381G= (p.Glu2127=) n.6633G= c.6534G= (p.Glu2178=) c.5439G= (p.Glu1813=) c.1623G= (p.Glu541=) c.1176G= (p.Glu392=) c.513G= (p.Glu171=) c.5028G= (p.Glu1676=) n.6551G= | |
| 5 | g.13829528C>G | CA359199410 | DNAH5 | n.1357G>C c.6426G>C (p.Glu2142Asp) c.6381G>C (p.Glu2127Asp) n.6633G>C c.6534G>C (p.Glu2178Asp) c.5439G>C (p.Glu1813Asp) c.1623G>C (p.Glu541Asp) c.1176G>C (p.Glu392Asp) c.513G>C (p.Glu171Asp) c.5028G>C (p.Glu1676Asp) n.6551G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13829528C>T | CA443251341 | DNAH5 | n.1357G>A c.6426G>A (p.Glu2142=) c.6381G>A (p.Glu2127=) n.6633G>A c.6534G>A (p.Glu2178=) c.5439G>A (p.Glu1813=) c.1623G>A (p.Glu541=) c.1176G>A (p.Glu392=) c.513G>A (p.Glu171=) c.5028G>A (p.Glu1676=) n.6551G>A | COSMIC |
| 5 | g.13829529T>A | CA359199417 | DNAH5 | n.1356A>T c.6425A>T (p.Glu2142Val) c.6380A>T (p.Glu2127Val) n.6632A>T c.6533A>T (p.Glu2178Val) c.5438A>T (p.Glu1813Val) c.1622A>T (p.Glu541Val) c.1175A>T (p.Glu392Val) c.512A>T (p.Glu171Val) c.5027A>T (p.Glu1676Val) n.6550A>T | |
| 5 | g.13829529T>C | CA359199412 | DNAH5 | n.1356A>G c.6425A>G (p.Glu2142Gly) c.6380A>G (p.Glu2127Gly) n.6632A>G c.6533A>G (p.Glu2178Gly) c.5438A>G (p.Glu1813Gly) c.1622A>G (p.Glu541Gly) c.1175A>G (p.Glu392Gly) c.512A>G (p.Glu171Gly) c.5027A>G (p.Glu1676Gly) n.6550A>G | gnomAD v4 |
| 5 | g.13829529T>G | CA359199415 | DNAH5 | n.1356A>C c.6425A>C (p.Glu2142Ala) c.6380A>C (p.Glu2127Ala) n.6632A>C c.6533A>C (p.Glu2178Ala) c.5438A>C (p.Glu1813Ala) c.1622A>C (p.Glu541Ala) c.1175A>C (p.Glu392Ala) c.512A>C (p.Glu171Ala) c.5027A>C (p.Glu1676Ala) n.6550A>C | |
| 5 | g.13829529_13829531delinsTCA | CA1528458063 | DNAH5 | n.1354_1356delinsTGA c.6423_6425delinsTGA (p.Cys2141=) c.6378_6380delinsTGA (p.Cys2126=) n.6630_6632delinsTGA c.6531_6533delinsTGA (p.Cys2177=) c.5436_5438delinsTGA (p.Cys1812=) c.1620_1622delinsTGA (p.Cys540=) c.1173_1175delinsTGA (p.Cys391=) c.510_512delinsTGA (p.Cys170=) c.5025_5027delinsTGA (p.Cys1675=) n.6548_6550delinsTGA | |
| 5 | g.13829530C>A | CA359199426 | DNAH5 | n.1355G>T c.6424G>T (p.Glu2142Ter) c.6379G>T (p.Glu2127Ter) n.6631G>T c.6532G>T (p.Glu2178Ter) c.5437G>T (p.Glu1813Ter) c.1621G>T (p.Glu541Ter) c.1174G>T (p.Glu392Ter) c.511G>T (p.Glu171Ter) c.5026G>T (p.Glu1676Ter) n.6549G>T | |
| 5 | g.13829530C>G | CA359199427 | DNAH5 | n.1355G>C c.6424G>C (p.Glu2142Gln) c.6379G>C (p.Glu2127Gln) n.6631G>C c.6532G>C (p.Glu2178Gln) c.5437G>C (p.Glu1813Gln) c.1621G>C (p.Glu541Gln) c.1174G>C (p.Glu392Gln) c.511G>C (p.Glu171Gln) c.5026G>C (p.Glu1676Gln) n.6549G>C | |
| 5 | g.13829530C>T | CA359199431 | DNAH5 | n.1355G>A c.6424G>A (p.Glu2142Lys) c.6379G>A (p.Glu2127Lys) n.6631G>A c.6532G>A (p.Glu2178Lys) c.5437G>A (p.Glu1813Lys) c.1621G>A (p.Glu541Lys) c.1174G>A (p.Glu392Lys) c.511G>A (p.Glu171Lys) c.5026G>A (p.Glu1676Lys) n.6549G>A | |
| 5 | g.13829534_13829535del | CA915943293 | DNAH5 | n.1354_1355del c.6423_6424del (p.Cys2141Ter) c.6378_6379del (p.Cys2126Ter) n.6630_6631del c.6531_6532del (p.Cys2177Ter) c.5436_5437del (p.Cys1812Ter) c.1620_1621del (p.Cys540Ter) c.1173_1174del (p.Cys391Ter) c.510_511del (p.Cys170Ter) c.5025_5026del (p.Cys1675Ter) n.6548_6549del | ClinVar dbSNP gnomAD v4 |
| 5 | g.13829531A>C | CA359199437 | DNAH5 | n.1354T>G c.6423T>G (p.Cys2141Trp) c.6378T>G (p.Cys2126Trp) n.6630T>G c.6531T>G (p.Cys2177Trp) c.5436T>G (p.Cys1812Trp) c.1620T>G (p.Cys540Trp) c.1173T>G (p.Cys391Trp) c.510T>G (p.Cys170Trp) c.5025T>G (p.Cys1675Trp) n.6548T>G | |
| 5 | g.13829531A>G | CA443251346 | DNAH5 | n.1354T>C c.6423T>C (p.Cys2141=) c.6378T>C (p.Cys2126=) n.6630T>C c.6531T>C (p.Cys2177=) c.5436T>C (p.Cys1812=) c.1620T>C (p.Cys540=) c.1173T>C (p.Cys391=) c.510T>C (p.Cys170=) c.5025T>C (p.Cys1675=) n.6548T>C | |
| 5 | g.13829531A>T | CA359199442 | DNAH5 | n.1354T>A c.6423T>A (p.Cys2141Ter) c.6378T>A (p.Cys2126Ter) n.6630T>A c.6531T>A (p.Cys2177Ter) c.5436T>A (p.Cys1812Ter) c.1620T>A (p.Cys540Ter) c.1173T>A (p.Cys391Ter) c.510T>A (p.Cys170Ter) c.5025T>A (p.Cys1675Ter) n.6548T>A |