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.13717313A>C | CA359205821 | DNAH5 | c.12705+2T>G (n.12705+2T>G) c.12660+2T>G (n.12660+2T>G) c.12813+2T>G (n.12813+2T>G) c.11718+2T>G (n.11718+2T>G) c.7902+2T>G (n.7902+2T>G) c.7455+2T>G (n.7455+2T>G) c.6792+2T>G (n.6792+2T>G) c.11307+2T>G (n.11307+2T>G) | |
| 5 | g.13717313A>G | CA359205815 | DNAH5 | c.12705+2T>C (n.12705+2T>C) c.12660+2T>C (n.12660+2T>C) c.12813+2T>C (n.12813+2T>C) c.11718+2T>C (n.11718+2T>C) c.7902+2T>C (n.7902+2T>C) c.7455+2T>C (n.7455+2T>C) c.6792+2T>C (n.6792+2T>C) c.11307+2T>C (n.11307+2T>C) | gnomAD v4 |
| 5 | g.13717313A>T | CA359205813 | DNAH5 | c.12705+2T>A (n.12705+2T>A) c.12660+2T>A (n.12660+2T>A) c.12813+2T>A (n.12813+2T>A) c.11718+2T>A (n.11718+2T>A) c.7902+2T>A (n.7902+2T>A) c.7455+2T>A (n.7455+2T>A) c.6792+2T>A (n.6792+2T>A) c.11307+2T>A (n.11307+2T>A) | |
| 5 | g.13717314C>A | CA3201563 | DNAH5 | c.12705+1G>T (n.12705+1G>T) c.12660+1G>T (n.12660+1G>T) c.12813+1G>T (n.12813+1G>T) c.11718+1G>T (n.11718+1G>T) c.7902+1G>T (n.7902+1G>T) c.7455+1G>T (n.7455+1G>T) c.6792+1G>T (n.6792+1G>T) c.11307+1G>T (n.11307+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13717314C= | CA1528406996 | DNAH5 | c.12705+1G= (n.12705+1G=) c.12660+1G= (n.12660+1G=) c.12813+1G= (n.12813+1G=) c.11718+1G= (n.11718+1G=) c.7902+1G= (n.7902+1G=) c.7455+1G= (n.7455+1G=) c.6792+1G= (n.6792+1G=) c.11307+1G= (n.11307+1G=) | |
| 5 | g.13717314C>G | CA359205865 | DNAH5 | c.12705+1G>C (n.12705+1G>C) c.12660+1G>C (n.12660+1G>C) c.12813+1G>C (n.12813+1G>C) c.11718+1G>C (n.11718+1G>C) c.7902+1G>C (n.7902+1G>C) c.7455+1G>C (n.7455+1G>C) c.6792+1G>C (n.6792+1G>C) c.11307+1G>C (n.11307+1G>C) | |
| 5 | g.13717314C>T | CA359205872 | DNAH5 | c.12705+1G>A (n.12705+1G>A) c.12660+1G>A (n.12660+1G>A) c.12813+1G>A (n.12813+1G>A) c.11718+1G>A (n.11718+1G>A) c.7902+1G>A (n.7902+1G>A) c.7455+1G>A (n.7455+1G>A) c.6792+1G>A (n.6792+1G>A) c.11307+1G>A (n.11307+1G>A) | ClinVar |
| 5 | g.13717314_13717315delinsAA | CA645541013 | DNAH5 | c.12705_12705+1delinsTT c.12660_12660+1delinsTT c.12813_12813+1delinsTT c.11718_11718+1delinsTT c.7902_7902+1delinsTT c.7455_7455+1delinsTT c.6792_6792+1delinsTT c.11307_11307+1delinsTT | COSMIC |
| 5 | g.13717315C>A | CA359205873 | DNAH5 | c.12705G>T (p.Lys4235Asn) c.12660G>T (p.Lys4220Asn) c.12813G>T (p.Lys4271Asn) c.11718G>T (p.Lys3906Asn) c.7902G>T (p.Lys2634Asn) c.7455G>T (p.Lys2485Asn) c.6792G>T (p.Lys2264Asn) c.11307G>T (p.Lys3769Asn) | |
| 5 | g.13717315C>G | CA359205879 | DNAH5 | c.12705G>C (p.Lys4235Asn) c.12660G>C (p.Lys4220Asn) c.12813G>C (p.Lys4271Asn) c.11718G>C (p.Lys3906Asn) c.7902G>C (p.Lys2634Asn) c.7455G>C (p.Lys2485Asn) c.6792G>C (p.Lys2264Asn) c.11307G>C (p.Lys3769Asn) | |
| 5 | g.13717315C>T | CA443254326 | DNAH5 | c.12705G>A (p.Lys4235=) c.12660G>A (p.Lys4220=) c.12813G>A (p.Lys4271=) c.11718G>A (p.Lys3906=) c.7902G>A (p.Lys2634=) c.7455G>A (p.Lys2485=) c.6792G>A (p.Lys2264=) c.11307G>A (p.Lys3769=) | gnomAD v4 COSMIC |
| 5 | g.13717315_13717320del | CA2673267151 | DNAH5 | c.12700_12705del (p.Lys4234_Lys4235del) c.12655_12660del (p.Lys4219_Lys4220del) c.12808_12813del (p.Lys4270_Lys4271del) c.11713_11718del (p.Lys3905_Lys3906del) c.7897_7902del (p.Lys2633_Lys2634del) c.7450_7455del (p.Lys2484_Lys2485del) c.6787_6792del (p.Lys2263_Lys2264del) c.11302_11307del (p.Lys3768_Lys3769del) | gnomAD v4 |
| 5 | g.13717316T>A | CA359205889 | DNAH5 | c.12704A>T (p.Lys4235Met) c.12659A>T (p.Lys4220Met) c.12812A>T (p.Lys4271Met) c.11717A>T (p.Lys3906Met) c.7901A>T (p.Lys2634Met) c.7454A>T (p.Lys2485Met) c.6791A>T (p.Lys2264Met) c.11306A>T (p.Lys3769Met) | |
| 5 | g.13717316T>C | CA359205891 | DNAH5 | c.12704A>G (p.Lys4235Arg) c.12659A>G (p.Lys4220Arg) c.12812A>G (p.Lys4271Arg) c.11717A>G (p.Lys3906Arg) c.7901A>G (p.Lys2634Arg) c.7454A>G (p.Lys2485Arg) c.6791A>G (p.Lys2264Arg) c.11306A>G (p.Lys3769Arg) | gnomAD v4 |
| 5 | g.13717316T>G | CA359205892 | DNAH5 | c.12704A>C (p.Lys4235Thr) c.12659A>C (p.Lys4220Thr) c.12812A>C (p.Lys4271Thr) c.11717A>C (p.Lys3906Thr) c.7901A>C (p.Lys2634Thr) c.7454A>C (p.Lys2485Thr) c.6791A>C (p.Lys2264Thr) c.11306A>C (p.Lys3769Thr) | |
| 5 | g.13717317T>A | CA359205894 | DNAH5 | c.12703A>T (p.Lys4235Ter) c.12658A>T (p.Lys4220Ter) c.12811A>T (p.Lys4271Ter) c.11716A>T (p.Lys3906Ter) c.7900A>T (p.Lys2634Ter) c.7453A>T (p.Lys2485Ter) c.6790A>T (p.Lys2264Ter) c.11305A>T (p.Lys3769Ter) | |
| 5 | g.13717317T>C | CA359205896 | DNAH5 | c.12703A>G (p.Lys4235Glu) c.12658A>G (p.Lys4220Glu) c.12811A>G (p.Lys4271Glu) c.11716A>G (p.Lys3906Glu) c.7900A>G (p.Lys2634Glu) c.7453A>G (p.Lys2485Glu) c.6790A>G (p.Lys2264Glu) c.11305A>G (p.Lys3769Glu) | |
| 5 | g.13717317T>G | CA359205898 | DNAH5 | c.12703A>C (p.Lys4235Gln) c.12658A>C (p.Lys4220Gln) c.12811A>C (p.Lys4271Gln) c.11716A>C (p.Lys3906Gln) c.7900A>C (p.Lys2634Gln) c.7453A>C (p.Lys2485Gln) c.6790A>C (p.Lys2264Gln) c.11305A>C (p.Lys3769Gln) | |
| 5 | g.13717318T>A | CA359205904 | DNAH5 | c.12702A>T (p.Lys4234Asn) c.12657A>T (p.Lys4219Asn) c.12810A>T (p.Lys4270Asn) c.11715A>T (p.Lys3905Asn) c.7899A>T (p.Lys2633Asn) c.7452A>T (p.Lys2484Asn) c.6789A>T (p.Lys2263Asn) c.11304A>T (p.Lys3768Asn) | |
| 5 | g.13717318T>C | CA443254331 | DNAH5 | c.12702A>G (p.Lys4234=) c.12657A>G (p.Lys4219=) c.12810A>G (p.Lys4270=) c.11715A>G (p.Lys3905=) c.7899A>G (p.Lys2633=) c.7452A>G (p.Lys2484=) c.6789A>G (p.Lys2263=) c.11304A>G (p.Lys3768=) | |
| 5 | g.13717318T>G | CA359205915 | DNAH5 | c.12702A>C (p.Lys4234Asn) c.12657A>C (p.Lys4219Asn) c.12810A>C (p.Lys4270Asn) c.11715A>C (p.Lys3905Asn) c.7899A>C (p.Lys2633Asn) c.7452A>C (p.Lys2484Asn) c.6789A>C (p.Lys2263Asn) c.11304A>C (p.Lys3768Asn) | |
| 5 | g.13717319T>A | CA359205936 | DNAH5 | c.12701A>T (p.Lys4234Ile) c.12656A>T (p.Lys4219Ile) c.12809A>T (p.Lys4270Ile) c.11714A>T (p.Lys3905Ile) c.7898A>T (p.Lys2633Ile) c.7451A>T (p.Lys2484Ile) c.6788A>T (p.Lys2263Ile) c.11303A>T (p.Lys3768Ile) | |
| 5 | g.13717319T>C | CA359205938 | DNAH5 | c.12701A>G (p.Lys4234Arg) c.12656A>G (p.Lys4219Arg) c.12809A>G (p.Lys4270Arg) c.11714A>G (p.Lys3905Arg) c.7898A>G (p.Lys2633Arg) c.7451A>G (p.Lys2484Arg) c.6788A>G (p.Lys2263Arg) c.11303A>G (p.Lys3768Arg) | gnomAD v4 |
| 5 | g.13717319T>G | CA359205934 | DNAH5 | c.12701A>C (p.Lys4234Thr) c.12656A>C (p.Lys4219Thr) c.12809A>C (p.Lys4270Thr) c.11714A>C (p.Lys3905Thr) c.7898A>C (p.Lys2633Thr) c.7451A>C (p.Lys2484Thr) c.6788A>C (p.Lys2263Thr) c.11303A>C (p.Lys3768Thr) | |
| 5 | g.13717320T>A | CA359205945 | DNAH5 | c.12700A>T (p.Lys4234Ter) c.12655A>T (p.Lys4219Ter) c.12808A>T (p.Lys4270Ter) c.11713A>T (p.Lys3905Ter) c.7897A>T (p.Lys2633Ter) c.7450A>T (p.Lys2484Ter) c.6787A>T (p.Lys2263Ter) c.11302A>T (p.Lys3768Ter) | |
| 5 | g.13717320T>C | CA359205944 | DNAH5 | c.12700A>G (p.Lys4234Glu) c.12655A>G (p.Lys4219Glu) c.12808A>G (p.Lys4270Glu) c.11713A>G (p.Lys3905Glu) c.7897A>G (p.Lys2633Glu) c.7450A>G (p.Lys2484Glu) c.6787A>G (p.Lys2263Glu) c.11302A>G (p.Lys3768Glu) | |
| 5 | g.13717320T>G | CA3201564 | DNAH5 | c.12700A>C (p.Lys4234Gln) c.12655A>C (p.Lys4219Gln) c.12808A>C (p.Lys4270Gln) c.11713A>C (p.Lys3905Gln) c.7897A>C (p.Lys2633Gln) c.7450A>C (p.Lys2484Gln) c.6787A>C (p.Lys2263Gln) c.11302A>C (p.Lys3768Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717320T= | CA1528406997 | DNAH5 | c.12700A= (p.Lys4234=) c.12655A= (p.Lys4219=) c.12808A= (p.Lys4270=) c.11713A= (p.Lys3905=) c.7897A= (p.Lys2633=) c.7450A= (p.Lys2484=) c.6787A= (p.Lys2263=) c.11302A= (p.Lys3768=) | |
| 5 | g.13717321G>A | CA443254356 | DNAH5 | c.12699C>T (p.Val4233=) c.12654C>T (p.Val4218=) c.12807C>T (p.Val4269=) c.11712C>T (p.Val3904=) c.7896C>T (p.Val2632=) c.7449C>T (p.Val2483=) c.6786C>T (p.Val2262=) c.11301C>T (p.Val3767=) | |
| 5 | g.13717321G>C | CA443254351 | DNAH5 | c.12699C>G (p.Val4233=) c.12654C>G (p.Val4218=) c.12807C>G (p.Val4269=) c.11712C>G (p.Val3904=) c.7896C>G (p.Val2632=) c.7449C>G (p.Val2483=) c.6786C>G (p.Val2262=) c.11301C>G (p.Val3767=) | |
| 5 | g.13717321G>T | CA443254353 | DNAH5 | c.12699C>A (p.Val4233=) c.12654C>A (p.Val4218=) c.12807C>A (p.Val4269=) c.11712C>A (p.Val3904=) c.7896C>A (p.Val2632=) c.7449C>A (p.Val2483=) c.6786C>A (p.Val2262=) c.11301C>A (p.Val3767=) | |
| 5 | g.13717322A= | CA1528406998 | DNAH5 | c.12698T= (p.Val4233=) c.12653T= (p.Val4218=) c.12806T= (p.Val4269=) c.11711T= (p.Val3904=) c.7895T= (p.Val2632=) c.7448T= (p.Val2483=) c.6785T= (p.Val2262=) c.11300T= (p.Val3767=) | |
| 5 | g.13717322A>C | CA359205947 | DNAH5 | c.12698T>G (p.Val4233Gly) c.12653T>G (p.Val4218Gly) c.12806T>G (p.Val4269Gly) c.11711T>G (p.Val3904Gly) c.7895T>G (p.Val2632Gly) c.7448T>G (p.Val2483Gly) c.6785T>G (p.Val2262Gly) c.11300T>G (p.Val3767Gly) | |
| 5 | g.13717322A>G | CA3201565 | DNAH5 | c.12698T>C (p.Val4233Ala) c.12653T>C (p.Val4218Ala) c.12806T>C (p.Val4269Ala) c.11711T>C (p.Val3904Ala) c.7895T>C (p.Val2632Ala) c.7448T>C (p.Val2483Ala) c.6785T>C (p.Val2262Ala) c.11300T>C (p.Val3767Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13717322A>T | CA359205952 | DNAH5 | c.12698T>A (p.Val4233Asp) c.12653T>A (p.Val4218Asp) c.12806T>A (p.Val4269Asp) c.11711T>A (p.Val3904Asp) c.7895T>A (p.Val2632Asp) c.7448T>A (p.Val2483Asp) c.6785T>A (p.Val2262Asp) c.11300T>A (p.Val3767Asp) | |
| 5 | g.13717323C>A | CA359205955 | DNAH5 | c.12697G>T (p.Val4233Phe) c.12652G>T (p.Val4218Phe) c.12805G>T (p.Val4269Phe) c.11710G>T (p.Val3904Phe) c.7894G>T (p.Val2632Phe) c.7447G>T (p.Val2483Phe) c.6784G>T (p.Val2262Phe) c.11299G>T (p.Val3767Phe) | |
| 5 | g.13717323C>G | CA359205956 | DNAH5 | c.12697G>C (p.Val4233Leu) c.12652G>C (p.Val4218Leu) c.12805G>C (p.Val4269Leu) c.11710G>C (p.Val3904Leu) c.7894G>C (p.Val2632Leu) c.7447G>C (p.Val2483Leu) c.6784G>C (p.Val2262Leu) c.11299G>C (p.Val3767Leu) | |
| 5 | g.13717323C>T | CA359205963 | DNAH5 | c.12697G>A (p.Val4233Ile) c.12652G>A (p.Val4218Ile) c.12805G>A (p.Val4269Ile) c.11710G>A (p.Val3904Ile) c.7894G>A (p.Val2632Ile) c.7447G>A (p.Val2483Ile) c.6784G>A (p.Val2262Ile) c.11299G>A (p.Val3767Ile) | |
| 5 | g.13717324A>C | CA359205972 | DNAH5 | c.12696T>G (p.Asp4232Glu) c.12651T>G (p.Asp4217Glu) c.12804T>G (p.Asp4268Glu) c.11709T>G (p.Asp3903Glu) c.7893T>G (p.Asp2631Glu) c.7446T>G (p.Asp2482Glu) c.6783T>G (p.Asp2261Glu) c.11298T>G (p.Asp3766Glu) | gnomAD v4 |
| 5 | g.13717324A>G | CA443254368 | DNAH5 | c.12696T>C (p.Asp4232=) c.12651T>C (p.Asp4217=) c.12804T>C (p.Asp4268=) c.11709T>C (p.Asp3903=) c.7893T>C (p.Asp2631=) c.7446T>C (p.Asp2482=) c.6783T>C (p.Asp2261=) c.11298T>C (p.Asp3766=) | gnomAD v4 |
| 5 | g.13717324A>T | CA359205988 | DNAH5 | c.12696T>A (p.Asp4232Glu) c.12651T>A (p.Asp4217Glu) c.12804T>A (p.Asp4268Glu) c.11709T>A (p.Asp3903Glu) c.7893T>A (p.Asp2631Glu) c.7446T>A (p.Asp2482Glu) c.6783T>A (p.Asp2261Glu) c.11298T>A (p.Asp3766Glu) | |
| 5 | g.13717325T>A | CA359206005 | DNAH5 | c.12695A>T (p.Asp4232Val) c.12650A>T (p.Asp4217Val) c.12803A>T (p.Asp4268Val) c.11708A>T (p.Asp3903Val) c.7892A>T (p.Asp2631Val) c.7445A>T (p.Asp2482Val) c.6782A>T (p.Asp2261Val) c.11297A>T (p.Asp3766Val) | gnomAD v4 |
| 5 | g.13717325T>C | CA359206015 | DNAH5 | c.12695A>G (p.Asp4232Gly) c.12650A>G (p.Asp4217Gly) c.12803A>G (p.Asp4268Gly) c.11708A>G (p.Asp3903Gly) c.7892A>G (p.Asp2631Gly) c.7445A>G (p.Asp2482Gly) c.6782A>G (p.Asp2261Gly) c.11297A>G (p.Asp3766Gly) | |
| 5 | g.13717325T>G | CA359206019 | DNAH5 | c.12695A>C (p.Asp4232Ala) c.12650A>C (p.Asp4217Ala) c.12803A>C (p.Asp4268Ala) c.11708A>C (p.Asp3903Ala) c.7892A>C (p.Asp2631Ala) c.7445A>C (p.Asp2482Ala) c.6782A>C (p.Asp2261Ala) c.11297A>C (p.Asp3766Ala) | |
| 5 | g.13717326C>A | CA359206036 | DNAH5 | c.12694G>T (p.Asp4232Tyr) c.12649G>T (p.Asp4217Tyr) c.12802G>T (p.Asp4268Tyr) c.11707G>T (p.Asp3903Tyr) c.7891G>T (p.Asp2631Tyr) c.7444G>T (p.Asp2482Tyr) c.6781G>T (p.Asp2261Tyr) c.11296G>T (p.Asp3766Tyr) | |
| 5 | g.13717326C= | CA1528406999 | DNAH5 | c.12694G= (p.Asp4232=) c.12649G= (p.Asp4217=) c.12802G= (p.Asp4268=) c.11707G= (p.Asp3903=) c.7891G= (p.Asp2631=) c.7444G= (p.Asp2482=) c.6781G= (p.Asp2261=) c.11296G= (p.Asp3766=) | |
| 5 | g.13717326C>G | CA359206020 | DNAH5 | c.12694G>C (p.Asp4232His) c.12649G>C (p.Asp4217His) c.12802G>C (p.Asp4268His) c.11707G>C (p.Asp3903His) c.7891G>C (p.Asp2631His) c.7444G>C (p.Asp2482His) c.6781G>C (p.Asp2261His) c.11296G>C (p.Asp3766His) | |
| 5 | g.13717326C>T | CA3201566 | DNAH5 | c.12694G>A (p.Asp4232Asn) c.12649G>A (p.Asp4217Asn) c.12802G>A (p.Asp4268Asn) c.11707G>A (p.Asp3903Asn) c.7891G>A (p.Asp2631Asn) c.7444G>A (p.Asp2482Asn) c.6781G>A (p.Asp2261Asn) c.11296G>A (p.Asp3766Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717327C>A | CA359206042 | DNAH5 | c.12693G>T (p.Met4231Ile) c.12648G>T (p.Met4216Ile) c.12801G>T (p.Met4267Ile) c.11706G>T (p.Met3902Ile) c.7890G>T (p.Met2630Ile) c.7443G>T (p.Met2481Ile) c.6780G>T (p.Met2260Ile) c.11295G>T (p.Met3765Ile) | |
| 5 | g.13717327C>G | CA359206051 | DNAH5 | c.12693G>C (p.Met4231Ile) c.12648G>C (p.Met4216Ile) c.12801G>C (p.Met4267Ile) c.11706G>C (p.Met3902Ile) c.7890G>C (p.Met2630Ile) c.7443G>C (p.Met2481Ile) c.6780G>C (p.Met2260Ile) c.11295G>C (p.Met3765Ile) | |
| 5 | g.13717327C>T | CA359206052 | DNAH5 | c.12693G>A (p.Met4231Ile) c.12648G>A (p.Met4216Ile) c.12801G>A (p.Met4267Ile) c.11706G>A (p.Met3902Ile) c.7890G>A (p.Met2630Ile) c.7443G>A (p.Met2481Ile) c.6780G>A (p.Met2260Ile) c.11295G>A (p.Met3765Ile) | gnomAD v4 |
| 5 | g.13717328A= | CA1528407000 | DNAH5 | c.12692T= (p.Met4231=) c.12647T= (p.Met4216=) c.12800T= (p.Met4267=) c.11705T= (p.Met3902=) c.7889T= (p.Met2630=) c.7442T= (p.Met2481=) c.6779T= (p.Met2260=) c.11294T= (p.Met3765=) | |
| 5 | g.13717328A>C | CA359206053 | DNAH5 | c.12692T>G (p.Met4231Arg) c.12647T>G (p.Met4216Arg) c.12800T>G (p.Met4267Arg) c.11705T>G (p.Met3902Arg) c.7889T>G (p.Met2630Arg) c.7442T>G (p.Met2481Arg) c.6779T>G (p.Met2260Arg) c.11294T>G (p.Met3765Arg) | |
| 5 | g.13717328A>G | CA359206057 | DNAH5 | c.12692T>C (p.Met4231Thr) c.12647T>C (p.Met4216Thr) c.12800T>C (p.Met4267Thr) c.11705T>C (p.Met3902Thr) c.7889T>C (p.Met2630Thr) c.7442T>C (p.Met2481Thr) c.6779T>C (p.Met2260Thr) c.11294T>C (p.Met3765Thr) | |
| 5 | g.13717328A>T | CA3201567 | DNAH5 | c.12692T>A (p.Met4231Lys) c.12647T>A (p.Met4216Lys) c.12800T>A (p.Met4267Lys) c.11705T>A (p.Met3902Lys) c.7889T>A (p.Met2630Lys) c.7442T>A (p.Met2481Lys) c.6779T>A (p.Met2260Lys) c.11294T>A (p.Met3765Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13717329T>A | CA359206073 | DNAH5 | c.12691A>T (p.Met4231Leu) c.12646A>T (p.Met4216Leu) c.12799A>T (p.Met4267Leu) c.11704A>T (p.Met3902Leu) c.7888A>T (p.Met2630Leu) c.7441A>T (p.Met2481Leu) c.6778A>T (p.Met2260Leu) c.11293A>T (p.Met3765Leu) | |
| 5 | g.13717329T>C | CA359206084 | DNAH5 | c.12691A>G (p.Met4231Val) c.12646A>G (p.Met4216Val) c.12799A>G (p.Met4267Val) c.11704A>G (p.Met3902Val) c.7888A>G (p.Met2630Val) c.7441A>G (p.Met2481Val) c.6778A>G (p.Met2260Val) c.11293A>G (p.Met3765Val) | |
| 5 | g.13717329T>G | CA359206092 | DNAH5 | c.12691A>C (p.Met4231Leu) c.12646A>C (p.Met4216Leu) c.12799A>C (p.Met4267Leu) c.11704A>C (p.Met3902Leu) c.7888A>C (p.Met2630Leu) c.7441A>C (p.Met2481Leu) c.6778A>C (p.Met2260Leu) c.11293A>C (p.Met3765Leu) | |
| 5 | g.13717330G>A | CA3201568 | DNAH5 | c.12690C>T (p.Asp4230=) c.12645C>T (p.Asp4215=) c.12798C>T (p.Asp4266=) c.11703C>T (p.Asp3901=) c.7887C>T (p.Asp2629=) c.7440C>T (p.Asp2480=) c.6777C>T (p.Asp2259=) c.11292C>T (p.Asp3764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717330G>C | CA359206109 | DNAH5 | c.12690C>G (p.Asp4230Glu) c.12645C>G (p.Asp4215Glu) c.12798C>G (p.Asp4266Glu) c.11703C>G (p.Asp3901Glu) c.7887C>G (p.Asp2629Glu) c.7440C>G (p.Asp2480Glu) c.6777C>G (p.Asp2259Glu) c.11292C>G (p.Asp3764Glu) | |
| 5 | g.13717330G= | CA1528407001 | DNAH5 | c.12690C= (p.Asp4230=) c.12645C= (p.Asp4215=) c.12798C= (p.Asp4266=) c.11703C= (p.Asp3901=) c.7887C= (p.Asp2629=) c.7440C= (p.Asp2480=) c.6777C= (p.Asp2259=) c.11292C= (p.Asp3764=) | |
| 5 | g.13717330G>T | CA359206110 | DNAH5 | c.12690C>A (p.Asp4230Glu) c.12645C>A (p.Asp4215Glu) c.12798C>A (p.Asp4266Glu) c.11703C>A (p.Asp3901Glu) c.7887C>A (p.Asp2629Glu) c.7440C>A (p.Asp2480Glu) c.6777C>A (p.Asp2259Glu) c.11292C>A (p.Asp3764Glu) | |
| 5 | g.13717331T>A | CA359206135 | DNAH5 | c.12689A>T (p.Asp4230Val) c.12644A>T (p.Asp4215Val) c.12797A>T (p.Asp4266Val) c.11702A>T (p.Asp3901Val) c.7886A>T (p.Asp2629Val) c.7439A>T (p.Asp2480Val) c.6776A>T (p.Asp2259Val) c.11291A>T (p.Asp3764Val) | |
| 5 | g.13717331T>C | CA359206126 | DNAH5 | c.12689A>G (p.Asp4230Gly) c.12644A>G (p.Asp4215Gly) c.12797A>G (p.Asp4266Gly) c.11702A>G (p.Asp3901Gly) c.7886A>G (p.Asp2629Gly) c.7439A>G (p.Asp2480Gly) c.6776A>G (p.Asp2259Gly) c.11291A>G (p.Asp3764Gly) | gnomAD v4 |
| 5 | g.13717331T>G | CA359206112 | DNAH5 | c.12689A>C (p.Asp4230Ala) c.12644A>C (p.Asp4215Ala) c.12797A>C (p.Asp4266Ala) c.11702A>C (p.Asp3901Ala) c.7886A>C (p.Asp2629Ala) c.7439A>C (p.Asp2480Ala) c.6776A>C (p.Asp2259Ala) c.11291A>C (p.Asp3764Ala) | |
| 5 | g.13717332C>A | CA359206141 | DNAH5 | c.12688G>T (p.Asp4230Tyr) c.12643G>T (p.Asp4215Tyr) c.12796G>T (p.Asp4266Tyr) c.11701G>T (p.Asp3901Tyr) c.7885G>T (p.Asp2629Tyr) c.7438G>T (p.Asp2480Tyr) c.6775G>T (p.Asp2259Tyr) c.11290G>T (p.Asp3764Tyr) | |
| 5 | g.13717332C>G | CA359206147 | DNAH5 | c.12688G>C (p.Asp4230His) c.12643G>C (p.Asp4215His) c.12796G>C (p.Asp4266His) c.11701G>C (p.Asp3901His) c.7885G>C (p.Asp2629His) c.7438G>C (p.Asp2480His) c.6775G>C (p.Asp2259His) c.11290G>C (p.Asp3764His) | |
| 5 | g.13717332C>T | CA359206157 | DNAH5 | c.12688G>A (p.Asp4230Asn) c.12643G>A (p.Asp4215Asn) c.12796G>A (p.Asp4266Asn) c.11701G>A (p.Asp3901Asn) c.7885G>A (p.Asp2629Asn) c.7438G>A (p.Asp2480Asn) c.6775G>A (p.Asp2259Asn) c.11290G>A (p.Asp3764Asn) | |
| 5 | g.13717333A= | CA1528407002 | DNAH5 | c.12687T= (p.Asp4229=) c.12642T= (p.Asp4214=) c.12795T= (p.Asp4265=) c.11700T= (p.Asp3900=) c.7884T= (p.Asp2628=) c.7437T= (p.Asp2479=) c.6774T= (p.Asp2258=) c.11289T= (p.Asp3763=) | |
| 5 | g.13717333A>C | CA359206161 | DNAH5 | c.12687T>G (p.Asp4229Glu) c.12642T>G (p.Asp4214Glu) c.12795T>G (p.Asp4265Glu) c.11700T>G (p.Asp3900Glu) c.7884T>G (p.Asp2628Glu) c.7437T>G (p.Asp2479Glu) c.6774T>G (p.Asp2258Glu) c.11289T>G (p.Asp3763Glu) | |
| 5 | g.13717333A>G | CA443254397 | DNAH5 | c.12687T>C (p.Asp4229=) c.12642T>C (p.Asp4214=) c.12795T>C (p.Asp4265=) c.11700T>C (p.Asp3900=) c.7884T>C (p.Asp2628=) c.7437T>C (p.Asp2479=) c.6774T>C (p.Asp2258=) c.11289T>C (p.Asp3763=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13717333A>T | CA359206165 | DNAH5 | c.12687T>A (p.Asp4229Glu) c.12642T>A (p.Asp4214Glu) c.12795T>A (p.Asp4265Glu) c.11700T>A (p.Asp3900Glu) c.7884T>A (p.Asp2628Glu) c.7437T>A (p.Asp2479Glu) c.6774T>A (p.Asp2258Glu) c.11289T>A (p.Asp3763Glu) | |
| 5 | g.13717334T>A | CA3201569 | DNAH5 | c.12686A>T (p.Asp4229Val) c.12641A>T (p.Asp4214Val) c.12794A>T (p.Asp4265Val) c.11699A>T (p.Asp3900Val) c.7883A>T (p.Asp2628Val) c.7436A>T (p.Asp2479Val) c.6773A>T (p.Asp2258Val) c.11288A>T (p.Asp3763Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717334T>C | CA359206171 | DNAH5 | c.12686A>G (p.Asp4229Gly) c.12641A>G (p.Asp4214Gly) c.12794A>G (p.Asp4265Gly) c.11699A>G (p.Asp3900Gly) c.7883A>G (p.Asp2628Gly) c.7436A>G (p.Asp2479Gly) c.6773A>G (p.Asp2258Gly) c.11288A>G (p.Asp3763Gly) | gnomAD v4 |
| 5 | g.13717334T>G | CA359206186 | DNAH5 | c.12686A>C (p.Asp4229Ala) c.12641A>C (p.Asp4214Ala) c.12794A>C (p.Asp4265Ala) c.11699A>C (p.Asp3900Ala) c.7883A>C (p.Asp2628Ala) c.7436A>C (p.Asp2479Ala) c.6773A>C (p.Asp2258Ala) c.11288A>C (p.Asp3763Ala) | |
| 5 | g.13717334T= | CA1528407003 | DNAH5 | c.12686A= (p.Asp4229=) c.12641A= (p.Asp4214=) c.12794A= (p.Asp4265=) c.11699A= (p.Asp3900=) c.7883A= (p.Asp2628=) c.7436A= (p.Asp2479=) c.6773A= (p.Asp2258=) c.11288A= (p.Asp3763=) | |
| 5 | g.13717335C>A | CA359206201 | DNAH5 | c.12685G>T (p.Asp4229Tyr) c.12640G>T (p.Asp4214Tyr) c.12793G>T (p.Asp4265Tyr) c.11698G>T (p.Asp3900Tyr) c.7882G>T (p.Asp2628Tyr) c.7435G>T (p.Asp2479Tyr) c.6772G>T (p.Asp2258Tyr) c.11287G>T (p.Asp3763Tyr) | gnomAD v4 |
| 5 | g.13717335C= | CA1528407004 | DNAH5 | c.12685G= (p.Asp4229=) c.12640G= (p.Asp4214=) c.12793G= (p.Asp4265=) c.11698G= (p.Asp3900=) c.7882G= (p.Asp2628=) c.7435G= (p.Asp2479=) c.6772G= (p.Asp2258=) c.11287G= (p.Asp3763=) | |
| 5 | g.13717335C>G | CA359206207 | DNAH5 | c.12685G>C (p.Asp4229His) c.12640G>C (p.Asp4214His) c.12793G>C (p.Asp4265His) c.11698G>C (p.Asp3900His) c.7882G>C (p.Asp2628His) c.7435G>C (p.Asp2479His) c.6772G>C (p.Asp2258His) c.11287G>C (p.Asp3763His) | |
| 5 | g.13717335C>T | CA3201570 | DNAH5 | c.12685G>A (p.Asp4229Asn) c.12640G>A (p.Asp4214Asn) c.12793G>A (p.Asp4265Asn) c.11698G>A (p.Asp3900Asn) c.7882G>A (p.Asp2628Asn) c.7435G>A (p.Asp2479Asn) c.6772G>A (p.Asp2258Asn) c.11287G>A (p.Asp3763Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717336C>A | CA359206220 | DNAH5 | c.12684G>T (p.Leu4228Phe) c.12639G>T (p.Leu4213Phe) c.12792G>T (p.Leu4264Phe) c.11697G>T (p.Leu3899Phe) c.7881G>T (p.Leu2627Phe) c.7434G>T (p.Leu2478Phe) c.6771G>T (p.Leu2257Phe) c.11286G>T (p.Leu3762Phe) | |
| 5 | g.13717336C>G | CA359206224 | DNAH5 | c.12684G>C (p.Leu4228Phe) c.12639G>C (p.Leu4213Phe) c.12792G>C (p.Leu4264Phe) c.11697G>C (p.Leu3899Phe) c.7881G>C (p.Leu2627Phe) c.7434G>C (p.Leu2478Phe) c.6771G>C (p.Leu2257Phe) c.11286G>C (p.Leu3762Phe) | |
| 5 | g.13717336C>T | CA443254413 | DNAH5 | c.12684G>A (p.Leu4228=) c.12639G>A (p.Leu4213=) c.12792G>A (p.Leu4264=) c.11697G>A (p.Leu3899=) c.7881G>A (p.Leu2627=) c.7434G>A (p.Leu2478=) c.6771G>A (p.Leu2257=) c.11286G>A (p.Leu3762=) | gnomAD v4 |
| 5 | g.13717337A>C | CA359206242 | DNAH5 | c.12683T>G (p.Leu4228Trp) c.12638T>G (p.Leu4213Trp) c.12791T>G (p.Leu4264Trp) c.11696T>G (p.Leu3899Trp) c.7880T>G (p.Leu2627Trp) c.7433T>G (p.Leu2478Trp) c.6770T>G (p.Leu2257Trp) c.11285T>G (p.Leu3762Trp) | gnomAD v4 |
| 5 | g.13717337A>G | CA359206229 | DNAH5 | c.12683T>C (p.Leu4228Ser) c.12638T>C (p.Leu4213Ser) c.12791T>C (p.Leu4264Ser) c.11696T>C (p.Leu3899Ser) c.7880T>C (p.Leu2627Ser) c.7433T>C (p.Leu2478Ser) c.6770T>C (p.Leu2257Ser) c.11285T>C (p.Leu3762Ser) | |
| 5 | g.13717337A>T | CA359206234 | DNAH5 | c.12683T>A (p.Leu4228Ter) c.12638T>A (p.Leu4213Ter) c.12791T>A (p.Leu4264Ter) c.11696T>A (p.Leu3899Ter) c.7880T>A (p.Leu2627Ter) c.7433T>A (p.Leu2478Ter) c.6770T>A (p.Leu2257Ter) c.11285T>A (p.Leu3762Ter) | |
| 5 | g.13717338A= | CA1528407005 | DNAH5 | c.12682T= (p.Leu4228=) c.12637T= (p.Leu4213=) c.12790T= (p.Leu4264=) c.11695T= (p.Leu3899=) c.7879T= (p.Leu2627=) c.7432T= (p.Leu2478=) c.6769T= (p.Leu2257=) c.11284T= (p.Leu3762=) | |
| 5 | g.13717338A>C | CA359206260 | DNAH5 | c.12682T>G (p.Leu4228Val) c.12637T>G (p.Leu4213Val) c.12790T>G (p.Leu4264Val) c.11695T>G (p.Leu3899Val) c.7879T>G (p.Leu2627Val) c.7432T>G (p.Leu2478Val) c.6769T>G (p.Leu2257Val) c.11284T>G (p.Leu3762Val) | |
| 5 | g.13717338A>G | CA3201571 | DNAH5 | c.12682T>C (p.Leu4228=) c.12637T>C (p.Leu4213=) c.12790T>C (p.Leu4264=) c.11695T>C (p.Leu3899=) c.7879T>C (p.Leu2627=) c.7432T>C (p.Leu2478=) c.6769T>C (p.Leu2257=) c.11284T>C (p.Leu3762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717338A>T | CA359206280 | DNAH5 | c.12682T>A (p.Leu4228Met) c.12637T>A (p.Leu4213Met) c.12790T>A (p.Leu4264Met) c.11695T>A (p.Leu3899Met) c.7879T>A (p.Leu2627Met) c.7432T>A (p.Leu2478Met) c.6769T>A (p.Leu2257Met) c.11284T>A (p.Leu3762Met) | |
| 5 | g.13717339G>A | CA443254430 | DNAH5 | c.12681C>T (p.His4227=) c.12636C>T (p.His4212=) c.12789C>T (p.His4263=) c.11694C>T (p.His3898=) c.7878C>T (p.His2626=) c.7431C>T (p.His2477=) c.6768C>T (p.His2256=) c.11283C>T (p.His3761=) | gnomAD v4 |
| 5 | g.13717339G>C | CA359206285 | DNAH5 | c.12681C>G (p.His4227Gln) c.12636C>G (p.His4212Gln) c.12789C>G (p.His4263Gln) c.11694C>G (p.His3898Gln) c.7878C>G (p.His2626Gln) c.7431C>G (p.His2477Gln) c.6768C>G (p.His2256Gln) c.11283C>G (p.His3761Gln) | |
| 5 | g.13717339G>T | CA359206287 | DNAH5 | c.12681C>A (p.His4227Gln) c.12636C>A (p.His4212Gln) c.12789C>A (p.His4263Gln) c.11694C>A (p.His3898Gln) c.7878C>A (p.His2626Gln) c.7431C>A (p.His2477Gln) c.6768C>A (p.His2256Gln) c.11283C>A (p.His3761Gln) | |
| 5 | g.13717340T>A | CA359206289 | DNAH5 | c.12680A>T (p.His4227Leu) c.12635A>T (p.His4212Leu) c.12788A>T (p.His4263Leu) c.11693A>T (p.His3898Leu) c.7877A>T (p.His2626Leu) c.7430A>T (p.His2477Leu) c.6767A>T (p.His2256Leu) c.11282A>T (p.His3761Leu) | |
| 5 | g.13717340T>C | CA359206294 | DNAH5 | c.12680A>G (p.His4227Arg) c.12635A>G (p.His4212Arg) c.12788A>G (p.His4263Arg) c.11693A>G (p.His3898Arg) c.7877A>G (p.His2626Arg) c.7430A>G (p.His2477Arg) c.6767A>G (p.His2256Arg) c.11282A>G (p.His3761Arg) | gnomAD v4 |
| 5 | g.13717340T>G | CA359206298 | DNAH5 | c.12680A>C (p.His4227Pro) c.12635A>C (p.His4212Pro) c.12788A>C (p.His4263Pro) c.11693A>C (p.His3898Pro) c.7877A>C (p.His2626Pro) c.7430A>C (p.His2477Pro) c.6767A>C (p.His2256Pro) c.11282A>C (p.His3761Pro) | |
| 5 | g.13717341G>A | CA359206304 | DNAH5 | c.12679C>T (p.His4227Tyr) c.12634C>T (p.His4212Tyr) c.12787C>T (p.His4263Tyr) c.11692C>T (p.His3898Tyr) c.7876C>T (p.His2626Tyr) c.7429C>T (p.His2477Tyr) c.6766C>T (p.His2256Tyr) c.11281C>T (p.His3761Tyr) | |
| 5 | g.13717341G>C | CA359206305 | DNAH5 | c.12679C>G (p.His4227Asp) c.12634C>G (p.His4212Asp) c.12787C>G (p.His4263Asp) c.11692C>G (p.His3898Asp) c.7876C>G (p.His2626Asp) c.7429C>G (p.His2477Asp) c.6766C>G (p.His2256Asp) c.11281C>G (p.His3761Asp) | |
| 5 | g.13717341G>T | CA359206313 | DNAH5 | c.12679C>A (p.His4227Asn) c.12634C>A (p.His4212Asn) c.12787C>A (p.His4263Asn) c.11692C>A (p.His3898Asn) c.7876C>A (p.His2626Asn) c.7429C>A (p.His2477Asn) c.6766C>A (p.His2256Asn) c.11281C>A (p.His3761Asn) | |
| 5 | g.13717342G>A | CA443254441 | DNAH5 | c.12678C>T (p.Asn4226=) c.12633C>T (p.Asn4211=) c.12786C>T (p.Asn4262=) c.11691C>T (p.Asn3897=) c.7875C>T (p.Asn2625=) c.7428C>T (p.Asn2476=) c.6765C>T (p.Asn2255=) c.11280C>T (p.Asn3760=) | |
| 5 | g.13717342G>C | CA359206315 | DNAH5 | c.12678C>G (p.Asn4226Lys) c.12633C>G (p.Asn4211Lys) c.12786C>G (p.Asn4262Lys) c.11691C>G (p.Asn3897Lys) c.7875C>G (p.Asn2625Lys) c.7428C>G (p.Asn2476Lys) c.6765C>G (p.Asn2255Lys) c.11280C>G (p.Asn3760Lys) | |
| 5 | g.13717342G>T | CA359206320 | DNAH5 | c.12678C>A (p.Asn4226Lys) c.12633C>A (p.Asn4211Lys) c.12786C>A (p.Asn4262Lys) c.11691C>A (p.Asn3897Lys) c.7875C>A (p.Asn2625Lys) c.7428C>A (p.Asn2476Lys) c.6765C>A (p.Asn2255Lys) c.11280C>A (p.Asn3760Lys) | |
| 5 | g.13717343T>A | CA359206329 | DNAH5 | c.12677A>T (p.Asn4226Ile) c.12632A>T (p.Asn4211Ile) c.12785A>T (p.Asn4262Ile) c.11690A>T (p.Asn3897Ile) c.7874A>T (p.Asn2625Ile) c.7427A>T (p.Asn2476Ile) c.6764A>T (p.Asn2255Ile) c.11279A>T (p.Asn3760Ile) | |
| 5 | g.13717343T>C | CA359206333 | DNAH5 | c.12677A>G (p.Asn4226Ser) c.12632A>G (p.Asn4211Ser) c.12785A>G (p.Asn4262Ser) c.11690A>G (p.Asn3897Ser) c.7874A>G (p.Asn2625Ser) c.7427A>G (p.Asn2476Ser) c.6764A>G (p.Asn2255Ser) c.11279A>G (p.Asn3760Ser) | |
| 5 | g.13717343T>G | CA359206327 | DNAH5 | c.12677A>C (p.Asn4226Thr) c.12632A>C (p.Asn4211Thr) c.12785A>C (p.Asn4262Thr) c.11690A>C (p.Asn3897Thr) c.7874A>C (p.Asn2625Thr) c.7427A>C (p.Asn2476Thr) c.6764A>C (p.Asn2255Thr) c.11279A>C (p.Asn3760Thr) | |
| 5 | g.13717343_13717344insCCA | CA2578269914 | DNAH5 | c.12676_12677insTGG (p.Asn4226delinsMetAsp) c.12631_12632insTGG (p.Asn4211delinsMetAsp) c.12784_12785insTGG (p.Asn4262delinsMetAsp) c.11689_11690insTGG (p.Asn3897delinsMetAsp) c.7873_7874insTGG (p.Asn2625delinsMetAsp) c.7426_7427insTGG (p.Asn2476delinsMetAsp) c.6763_6764insTGG (p.Asn2255delinsMetAsp) c.11278_11279insTGG (p.Asn3760delinsMetAsp) | |
| 5 | g.13717344T>A | CA359206344 | DNAH5 | c.12676A>T (p.Asn4226Tyr) c.12631A>T (p.Asn4211Tyr) c.12784A>T (p.Asn4262Tyr) c.11689A>T (p.Asn3897Tyr) c.7873A>T (p.Asn2625Tyr) c.7426A>T (p.Asn2476Tyr) c.6763A>T (p.Asn2255Tyr) c.11278A>T (p.Asn3760Tyr) | dbSNP |
| 5 | g.13717344T>C | CA359206339 | DNAH5 | c.12676A>G (p.Asn4226Asp) c.12631A>G (p.Asn4211Asp) c.12784A>G (p.Asn4262Asp) c.11689A>G (p.Asn3897Asp) c.7873A>G (p.Asn2625Asp) c.7426A>G (p.Asn2476Asp) c.6763A>G (p.Asn2255Asp) c.11278A>G (p.Asn3760Asp) | |
| 5 | g.13717344T>G | CA359206359 | DNAH5 | c.12676A>C (p.Asn4226His) c.12631A>C (p.Asn4211His) c.12784A>C (p.Asn4262His) c.11689A>C (p.Asn3897His) c.7873A>C (p.Asn2625His) c.7426A>C (p.Asn2476His) c.6763A>C (p.Asn2255His) c.11278A>C (p.Asn3760His) | |
| 5 | g.13717345T>A | CA3201572 | DNAH5 | c.12675A>T (p.Gln4225His) c.12630A>T (p.Gln4210His) c.12783A>T (p.Gln4261His) c.11688A>T (p.Gln3896His) c.7872A>T (p.Gln2624His) c.7425A>T (p.Gln2475His) c.6762A>T (p.Gln2254His) c.11277A>T (p.Gln3759His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717345T>C | CA443254453 | DNAH5 | c.12675A>G (p.Gln4225=) c.12630A>G (p.Gln4210=) c.12783A>G (p.Gln4261=) c.11688A>G (p.Gln3896=) c.7872A>G (p.Gln2624=) c.7425A>G (p.Gln2475=) c.6762A>G (p.Gln2254=) c.11277A>G (p.Gln3759=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13717345T>G | CA359206397 | DNAH5 | c.12675A>C (p.Gln4225His) c.12630A>C (p.Gln4210His) c.12783A>C (p.Gln4261His) c.11688A>C (p.Gln3896His) c.7872A>C (p.Gln2624His) c.7425A>C (p.Gln2475His) c.6762A>C (p.Gln2254His) c.11277A>C (p.Gln3759His) | |
| 5 | g.13717345T= | CA1528407006 | DNAH5 | c.12675A= (p.Gln4225=) c.12630A= (p.Gln4210=) c.12783A= (p.Gln4261=) c.11688A= (p.Gln3896=) c.7872A= (p.Gln2624=) c.7425A= (p.Gln2475=) c.6762A= (p.Gln2254=) c.11277A= (p.Gln3759=) | |
| 5 | g.13717346T>A | CA359206417 | DNAH5 | c.12674A>T (p.Gln4225Leu) c.12629A>T (p.Gln4210Leu) c.12782A>T (p.Gln4261Leu) c.11687A>T (p.Gln3896Leu) c.7871A>T (p.Gln2624Leu) c.7424A>T (p.Gln2475Leu) c.6761A>T (p.Gln2254Leu) c.11276A>T (p.Gln3759Leu) | |
| 5 | g.13717346T>C | CA359206418 | DNAH5 | c.12674A>G (p.Gln4225Arg) c.12629A>G (p.Gln4210Arg) c.12782A>G (p.Gln4261Arg) c.11687A>G (p.Gln3896Arg) c.7871A>G (p.Gln2624Arg) c.7424A>G (p.Gln2475Arg) c.6761A>G (p.Gln2254Arg) c.11276A>G (p.Gln3759Arg) | |
| 5 | g.13717346T>G | CA359206419 | DNAH5 | c.12674A>C (p.Gln4225Pro) c.12629A>C (p.Gln4210Pro) c.12782A>C (p.Gln4261Pro) c.11687A>C (p.Gln3896Pro) c.7871A>C (p.Gln2624Pro) c.7424A>C (p.Gln2475Pro) c.6761A>C (p.Gln2254Pro) c.11276A>C (p.Gln3759Pro) | dbSNP |
| 5 | g.13717346T= | CA1528407007 | DNAH5 | c.12674A= (p.Gln4225=) c.12629A= (p.Gln4210=) c.12782A= (p.Gln4261=) c.11687A= (p.Gln3896=) c.7871A= (p.Gln2624=) c.7424A= (p.Gln2475=) c.6761A= (p.Gln2254=) c.11276A= (p.Gln3759=) | |
| 5 | g.13717347G>A | CA359206421 | DNAH5 | c.12673C>T (p.Gln4225Ter) c.12628C>T (p.Gln4210Ter) c.12781C>T (p.Gln4261Ter) c.11686C>T (p.Gln3896Ter) c.7870C>T (p.Gln2624Ter) c.7423C>T (p.Gln2475Ter) c.6760C>T (p.Gln2254Ter) c.11275C>T (p.Gln3759Ter) | ClinVar gnomAD v4 |
| 5 | g.13717347G>C | CA359206423 | DNAH5 | c.12673C>G (p.Gln4225Glu) c.12628C>G (p.Gln4210Glu) c.12781C>G (p.Gln4261Glu) c.11686C>G (p.Gln3896Glu) c.7870C>G (p.Gln2624Glu) c.7423C>G (p.Gln2475Glu) c.6760C>G (p.Gln2254Glu) c.11275C>G (p.Gln3759Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13717347G= | CA1528407008 | DNAH5 | c.12673C= (p.Gln4225=) c.12628C= (p.Gln4210=) c.12781C= (p.Gln4261=) c.11686C= (p.Gln3896=) c.7870C= (p.Gln2624=) c.7423C= (p.Gln2475=) c.6760C= (p.Gln2254=) c.11275C= (p.Gln3759=) | |
| 5 | g.13717347G>T | CA359206426 | DNAH5 | c.12673C>A (p.Gln4225Lys) c.12628C>A (p.Gln4210Lys) c.12781C>A (p.Gln4261Lys) c.11686C>A (p.Gln3896Lys) c.7870C>A (p.Gln2624Lys) c.7423C>A (p.Gln2475Lys) c.6760C>A (p.Gln2254Lys) c.11275C>A (p.Gln3759Lys) | |
| 5 | g.13717348G>A | CA443254465 | DNAH5 | c.12672C>T (p.Ile4224=) c.12627C>T (p.Ile4209=) c.12780C>T (p.Ile4260=) c.11685C>T (p.Ile3895=) c.7869C>T (p.Ile2623=) c.7422C>T (p.Ile2474=) c.6759C>T (p.Ile2253=) c.11274C>T (p.Ile3758=) | |
| 5 | g.13717348G>C | CA359206433 | DNAH5 | c.12672C>G (p.Ile4224Met) c.12627C>G (p.Ile4209Met) c.12780C>G (p.Ile4260Met) c.11685C>G (p.Ile3895Met) c.7869C>G (p.Ile2623Met) c.7422C>G (p.Ile2474Met) c.6759C>G (p.Ile2253Met) c.11274C>G (p.Ile3758Met) | |
| 5 | g.13717348G>T | CA443254468 | DNAH5 | c.12672C>A (p.Ile4224=) c.12627C>A (p.Ile4209=) c.12780C>A (p.Ile4260=) c.11685C>A (p.Ile3895=) c.7869C>A (p.Ile2623=) c.7422C>A (p.Ile2474=) c.6759C>A (p.Ile2253=) c.11274C>A (p.Ile3758=) | |
| 5 | g.13717349A>C | CA359206451 | DNAH5 | c.12671T>G (p.Ile4224Ser) c.12626T>G (p.Ile4209Ser) c.12779T>G (p.Ile4260Ser) c.11684T>G (p.Ile3895Ser) c.7868T>G (p.Ile2623Ser) c.7421T>G (p.Ile2474Ser) c.6758T>G (p.Ile2253Ser) c.11273T>G (p.Ile3758Ser) | |
| 5 | g.13717349A>G | CA359206461 | DNAH5 | c.12671T>C (p.Ile4224Thr) c.12626T>C (p.Ile4209Thr) c.12779T>C (p.Ile4260Thr) c.11684T>C (p.Ile3895Thr) c.7868T>C (p.Ile2623Thr) c.7421T>C (p.Ile2474Thr) c.6758T>C (p.Ile2253Thr) c.11273T>C (p.Ile3758Thr) | |
| 5 | g.13717349A>T | CA359206462 | DNAH5 | c.12671T>A (p.Ile4224Asn) c.12626T>A (p.Ile4209Asn) c.12779T>A (p.Ile4260Asn) c.11684T>A (p.Ile3895Asn) c.7868T>A (p.Ile2623Asn) c.7421T>A (p.Ile2474Asn) c.6758T>A (p.Ile2253Asn) c.11273T>A (p.Ile3758Asn) | |
| 5 | g.13717350T>A | CA359206463 | DNAH5 | c.12670A>T (p.Ile4224Phe) c.12625A>T (p.Ile4209Phe) c.12778A>T (p.Ile4260Phe) c.11683A>T (p.Ile3895Phe) c.7867A>T (p.Ile2623Phe) c.7420A>T (p.Ile2474Phe) c.6757A>T (p.Ile2253Phe) c.11272A>T (p.Ile3758Phe) | dbSNP |
| 5 | g.13717350T>C | CA359206464 | DNAH5 | c.12670A>G (p.Ile4224Val) c.12625A>G (p.Ile4209Val) c.12778A>G (p.Ile4260Val) c.11683A>G (p.Ile3895Val) c.7867A>G (p.Ile2623Val) c.7420A>G (p.Ile2474Val) c.6757A>G (p.Ile2253Val) c.11272A>G (p.Ile3758Val) | |
| 5 | g.13717350T>G | CA359206468 | DNAH5 | c.12670A>C (p.Ile4224Leu) c.12625A>C (p.Ile4209Leu) c.12778A>C (p.Ile4260Leu) c.11683A>C (p.Ile3895Leu) c.7867A>C (p.Ile2623Leu) c.7420A>C (p.Ile2474Leu) c.6757A>C (p.Ile2253Leu) c.11272A>C (p.Ile3758Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13717350T= | CA1528407009 | DNAH5 | c.12670A= (p.Ile4224=) c.12625A= (p.Ile4209=) c.12778A= (p.Ile4260=) c.11683A= (p.Ile3895=) c.7867A= (p.Ile2623=) c.7420A= (p.Ile2474=) c.6757A= (p.Ile2253=) c.11272A= (p.Ile3758=) | |
| 5 | g.13717351G>A | CA443254472 | DNAH5 | c.12669C>T (p.Phe4223=) c.12624C>T (p.Phe4208=) c.12777C>T (p.Phe4259=) c.11682C>T (p.Phe3894=) c.7866C>T (p.Phe2622=) c.7419C>T (p.Phe2473=) c.6756C>T (p.Phe2252=) c.11271C>T (p.Phe3757=) | dbSNP gnomAD v4 COSMIC |
| 5 | g.13717351G>C | CA359206469 | DNAH5 | c.12669C>G (p.Phe4223Leu) c.12624C>G (p.Phe4208Leu) c.12777C>G (p.Phe4259Leu) c.11682C>G (p.Phe3894Leu) c.7866C>G (p.Phe2622Leu) c.7419C>G (p.Phe2473Leu) c.6756C>G (p.Phe2252Leu) c.11271C>G (p.Phe3757Leu) | |
| 5 | g.13717351G= | CA1528407010 | DNAH5 | c.12669C= (p.Phe4223=) c.12624C= (p.Phe4208=) c.12777C= (p.Phe4259=) c.11682C= (p.Phe3894=) c.7866C= (p.Phe2622=) c.7419C= (p.Phe2473=) c.6756C= (p.Phe2252=) c.11271C= (p.Phe3757=) | |
| 5 | g.13717351G>T | CA359206470 | DNAH5 | c.12669C>A (p.Phe4223Leu) c.12624C>A (p.Phe4208Leu) c.12777C>A (p.Phe4259Leu) c.11682C>A (p.Phe3894Leu) c.7866C>A (p.Phe2622Leu) c.7419C>A (p.Phe2473Leu) c.6756C>A (p.Phe2252Leu) c.11271C>A (p.Phe3757Leu) | |
| 5 | g.13717352A>C | CA359206471 | DNAH5 | c.12668T>G (p.Phe4223Cys) c.12623T>G (p.Phe4208Cys) c.12776T>G (p.Phe4259Cys) c.11681T>G (p.Phe3894Cys) c.7865T>G (p.Phe2622Cys) c.7418T>G (p.Phe2473Cys) c.6755T>G (p.Phe2252Cys) c.11270T>G (p.Phe3757Cys) | |
| 5 | g.13717352A>G | CA359206475 | DNAH5 | c.12668T>C (p.Phe4223Ser) c.12623T>C (p.Phe4208Ser) c.12776T>C (p.Phe4259Ser) c.11681T>C (p.Phe3894Ser) c.7865T>C (p.Phe2622Ser) c.7418T>C (p.Phe2473Ser) c.6755T>C (p.Phe2252Ser) c.11270T>C (p.Phe3757Ser) | |
| 5 | g.13717352A>T | CA359206489 | DNAH5 | c.12668T>A (p.Phe4223Tyr) c.12623T>A (p.Phe4208Tyr) c.12776T>A (p.Phe4259Tyr) c.11681T>A (p.Phe3894Tyr) c.7865T>A (p.Phe2622Tyr) c.7418T>A (p.Phe2473Tyr) c.6755T>A (p.Phe2252Tyr) c.11270T>A (p.Phe3757Tyr) | |
| 5 | g.13717353A>C | CA359206497 | DNAH5 | c.12667T>G (p.Phe4223Val) c.12622T>G (p.Phe4208Val) c.12775T>G (p.Phe4259Val) c.11680T>G (p.Phe3894Val) c.7864T>G (p.Phe2622Val) c.7417T>G (p.Phe2473Val) c.6754T>G (p.Phe2252Val) c.11269T>G (p.Phe3757Val) | |
| 5 | g.13717353A>G | CA359206501 | DNAH5 | c.12667T>C (p.Phe4223Leu) c.12622T>C (p.Phe4208Leu) c.12775T>C (p.Phe4259Leu) c.11680T>C (p.Phe3894Leu) c.7864T>C (p.Phe2622Leu) c.7417T>C (p.Phe2473Leu) c.6754T>C (p.Phe2252Leu) c.11269T>C (p.Phe3757Leu) | |
| 5 | g.13717353A>T | CA359206507 | DNAH5 | c.12667T>A (p.Phe4223Ile) c.12622T>A (p.Phe4208Ile) c.12775T>A (p.Phe4259Ile) c.11680T>A (p.Phe3894Ile) c.7864T>A (p.Phe2622Ile) c.7417T>A (p.Phe2473Ile) c.6754T>A (p.Phe2252Ile) c.11269T>A (p.Phe3757Ile) | |
| 5 | g.13717354C>A | CA359206511 | DNAH5 | c.12666G>T (p.Gln4222His) c.12621G>T (p.Gln4207His) c.12774G>T (p.Gln4258His) c.11679G>T (p.Gln3893His) c.7863G>T (p.Gln2621His) c.7416G>T (p.Gln2472His) c.6753G>T (p.Gln2251His) c.11268G>T (p.Gln3756His) | |
| 5 | g.13717354C>G | CA359206513 | DNAH5 | c.12666G>C (p.Gln4222His) c.12621G>C (p.Gln4207His) c.12774G>C (p.Gln4258His) c.11679G>C (p.Gln3893His) c.7863G>C (p.Gln2621His) c.7416G>C (p.Gln2472His) c.6753G>C (p.Gln2251His) c.11268G>C (p.Gln3756His) | |
| 5 | g.13717354C>T | CA443254484 | DNAH5 | c.12666G>A (p.Gln4222=) c.12621G>A (p.Gln4207=) c.12774G>A (p.Gln4258=) c.11679G>A (p.Gln3893=) c.7863G>A (p.Gln2621=) c.7416G>A (p.Gln2472=) c.6753G>A (p.Gln2251=) c.11268G>A (p.Gln3756=) | gnomAD v4 |
| 5 | g.13717355T>A | CA359206521 | DNAH5 | c.12665A>T (p.Gln4222Leu) c.12620A>T (p.Gln4207Leu) c.12773A>T (p.Gln4258Leu) c.11678A>T (p.Gln3893Leu) c.7862A>T (p.Gln2621Leu) c.7415A>T (p.Gln2472Leu) c.6752A>T (p.Gln2251Leu) c.11267A>T (p.Gln3756Leu) | |
| 5 | g.13717355T>C | CA359206523 | DNAH5 | c.12665A>G (p.Gln4222Arg) c.12620A>G (p.Gln4207Arg) c.12773A>G (p.Gln4258Arg) c.11678A>G (p.Gln3893Arg) c.7862A>G (p.Gln2621Arg) c.7415A>G (p.Gln2472Arg) c.6752A>G (p.Gln2251Arg) c.11267A>G (p.Gln3756Arg) | |
| 5 | g.13717355T>G | CA359206525 | DNAH5 | c.12665A>C (p.Gln4222Pro) c.12620A>C (p.Gln4207Pro) c.12773A>C (p.Gln4258Pro) c.11678A>C (p.Gln3893Pro) c.7862A>C (p.Gln2621Pro) c.7415A>C (p.Gln2472Pro) c.6752A>C (p.Gln2251Pro) c.11267A>C (p.Gln3756Pro) | gnomAD v4 |
| 5 | g.13717356G>A | CA359206531 | DNAH5 | c.12664C>T (p.Gln4222Ter) c.12619C>T (p.Gln4207Ter) c.12772C>T (p.Gln4258Ter) c.11677C>T (p.Gln3893Ter) c.7861C>T (p.Gln2621Ter) c.7414C>T (p.Gln2472Ter) c.6751C>T (p.Gln2251Ter) c.11266C>T (p.Gln3756Ter) | ClinVar dbSNP |
| 5 | g.13717356G>C | CA359206540 | DNAH5 | c.12664C>G (p.Gln4222Glu) c.12619C>G (p.Gln4207Glu) c.12772C>G (p.Gln4258Glu) c.11677C>G (p.Gln3893Glu) c.7861C>G (p.Gln2621Glu) c.7414C>G (p.Gln2472Glu) c.6751C>G (p.Gln2251Glu) c.11266C>G (p.Gln3756Glu) | |
| 5 | g.13717356G>T | CA359206527 | DNAH5 | c.12664C>A (p.Gln4222Lys) c.12619C>A (p.Gln4207Lys) c.12772C>A (p.Gln4258Lys) c.11677C>A (p.Gln3893Lys) c.7861C>A (p.Gln2621Lys) c.7414C>A (p.Gln2472Lys) c.6751C>A (p.Gln2251Lys) c.11266C>A (p.Gln3756Lys) | |
| 5 | g.13717357C>A | CA443254490 | DNAH5 | c.12663G>T (p.Val4221=) c.12618G>T (p.Val4206=) c.12771G>T (p.Val4257=) c.11676G>T (p.Val3892=) c.7860G>T (p.Val2620=) c.7413G>T (p.Val2471=) c.6750G>T (p.Val2250=) c.11265G>T (p.Val3755=) | |
| 5 | g.13717357C>G | CA443254491 | DNAH5 | c.12663G>C (p.Val4221=) c.12618G>C (p.Val4206=) c.12771G>C (p.Val4257=) c.11676G>C (p.Val3892=) c.7860G>C (p.Val2620=) c.7413G>C (p.Val2471=) c.6750G>C (p.Val2250=) c.11265G>C (p.Val3755=) | |
| 5 | g.13717357C>T | CA443254493 | DNAH5 | c.12663G>A (p.Val4221=) c.12618G>A (p.Val4206=) c.12771G>A (p.Val4257=) c.11676G>A (p.Val3892=) c.7860G>A (p.Val2620=) c.7413G>A (p.Val2471=) c.6750G>A (p.Val2250=) c.11265G>A (p.Val3755=) | |
| 5 | g.13717358A= | CA1528407011 | DNAH5 | c.12662T= (p.Val4221=) c.12617T= (p.Val4206=) c.12770T= (p.Val4257=) c.11675T= (p.Val3892=) c.7859T= (p.Val2620=) c.7412T= (p.Val2471=) c.6749T= (p.Val2250=) c.11264T= (p.Val3755=) | |
| 5 | g.13717358A>C | CA359206545 | DNAH5 | c.12662T>G (p.Val4221Gly) c.12617T>G (p.Val4206Gly) c.12770T>G (p.Val4257Gly) c.11675T>G (p.Val3892Gly) c.7859T>G (p.Val2620Gly) c.7412T>G (p.Val2471Gly) c.6749T>G (p.Val2250Gly) c.11264T>G (p.Val3755Gly) | |
| 5 | g.13717358A>G | CA359206546 | DNAH5 | c.12662T>C (p.Val4221Ala) c.12617T>C (p.Val4206Ala) c.12770T>C (p.Val4257Ala) c.11675T>C (p.Val3892Ala) c.7859T>C (p.Val2620Ala) c.7412T>C (p.Val2471Ala) c.6749T>C (p.Val2250Ala) c.11264T>C (p.Val3755Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13717358A>T | CA359206569 | DNAH5 | c.12662T>A (p.Val4221Glu) c.12617T>A (p.Val4206Glu) c.12770T>A (p.Val4257Glu) c.11675T>A (p.Val3892Glu) c.7859T>A (p.Val2620Glu) c.7412T>A (p.Val2471Glu) c.6749T>A (p.Val2250Glu) c.11264T>A (p.Val3755Glu) | |
| 5 | g.13717359C>A | CA359206570 | DNAH5 | c.12661G>T (p.Val4221Leu) c.12616G>T (p.Val4206Leu) c.12769G>T (p.Val4257Leu) c.11674G>T (p.Val3892Leu) c.7858G>T (p.Val2620Leu) c.7411G>T (p.Val2471Leu) c.6748G>T (p.Val2250Leu) c.11263G>T (p.Val3755Leu) | |
| 5 | g.13717359C= | CA1528407012 | DNAH5 | c.12661G= (p.Val4221=) c.12616G= (p.Val4206=) c.12769G= (p.Val4257=) c.11674G= (p.Val3892=) c.7858G= (p.Val2620=) c.7411G= (p.Val2471=) c.6748G= (p.Val2250=) c.11263G= (p.Val3755=) | |
| 5 | g.13717359C>G | CA359206571 | DNAH5 | c.12661G>C (p.Val4221Leu) c.12616G>C (p.Val4206Leu) c.12769G>C (p.Val4257Leu) c.11674G>C (p.Val3892Leu) c.7858G>C (p.Val2620Leu) c.7411G>C (p.Val2471Leu) c.6748G>C (p.Val2250Leu) c.11263G>C (p.Val3755Leu) | |
| 5 | g.13717359C>T | CA359206573 | DNAH5 | c.12661G>A (p.Val4221Met) c.12616G>A (p.Val4206Met) c.12769G>A (p.Val4257Met) c.11674G>A (p.Val3892Met) c.7858G>A (p.Val2620Met) c.7411G>A (p.Val2471Met) c.6748G>A (p.Val2250Met) c.11263G>A (p.Val3755Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13717360A>C | CA443254505 | DNAH5 | c.12660T>G (p.Thr4220=) c.12615T>G (p.Thr4205=) c.12768T>G (p.Thr4256=) c.11673T>G (p.Thr3891=) c.7857T>G (p.Thr2619=) c.7410T>G (p.Thr2470=) c.6747T>G (p.Thr2249=) c.11262T>G (p.Thr3754=) | |
| 5 | g.13717360A>G | CA443254506 | DNAH5 | c.12660T>C (p.Thr4220=) c.12615T>C (p.Thr4205=) c.12768T>C (p.Thr4256=) c.11673T>C (p.Thr3891=) c.7857T>C (p.Thr2619=) c.7410T>C (p.Thr2470=) c.6747T>C (p.Thr2249=) c.11262T>C (p.Thr3754=) | ClinVar dbSNP |
| 5 | g.13717360A>T | CA443254509 | DNAH5 | c.12660T>A (p.Thr4220=) c.12615T>A (p.Thr4205=) c.12768T>A (p.Thr4256=) c.11673T>A (p.Thr3891=) c.7857T>A (p.Thr2619=) c.7410T>A (p.Thr2470=) c.6747T>A (p.Thr2249=) c.11262T>A (p.Thr3754=) | |
| 5 | g.13717361G>A | CA359206581 | DNAH5 | c.12659C>T (p.Thr4220Ile) c.12614C>T (p.Thr4205Ile) c.12767C>T (p.Thr4256Ile) c.11672C>T (p.Thr3891Ile) c.7856C>T (p.Thr2619Ile) c.7409C>T (p.Thr2470Ile) c.6746C>T (p.Thr2249Ile) c.11261C>T (p.Thr3754Ile) | |
| 5 | g.13717361G>C | CA359206592 | DNAH5 | c.12659C>G (p.Thr4220Ser) c.12614C>G (p.Thr4205Ser) c.12767C>G (p.Thr4256Ser) c.11672C>G (p.Thr3891Ser) c.7856C>G (p.Thr2619Ser) c.7409C>G (p.Thr2470Ser) c.6746C>G (p.Thr2249Ser) c.11261C>G (p.Thr3754Ser) | dbSNP gnomAD v4 |
| 5 | g.13717361G= | CA1528407013 | DNAH5 | c.12659C= (p.Thr4220=) c.12614C= (p.Thr4205=) c.12767C= (p.Thr4256=) c.11672C= (p.Thr3891=) c.7856C= (p.Thr2619=) c.7409C= (p.Thr2470=) c.6746C= (p.Thr2249=) c.11261C= (p.Thr3754=) | |
| 5 | g.13717361G>T | CA359206594 | DNAH5 | c.12659C>A (p.Thr4220Asn) c.12614C>A (p.Thr4205Asn) c.12767C>A (p.Thr4256Asn) c.11672C>A (p.Thr3891Asn) c.7856C>A (p.Thr2619Asn) c.7409C>A (p.Thr2470Asn) c.6746C>A (p.Thr2249Asn) c.11261C>A (p.Thr3754Asn) | |
| 5 | g.13717362T>A | CA359206596 | DNAH5 | c.12658A>T (p.Thr4220Ser) c.12613A>T (p.Thr4205Ser) c.12766A>T (p.Thr4256Ser) c.11671A>T (p.Thr3891Ser) c.7855A>T (p.Thr2619Ser) c.7408A>T (p.Thr2470Ser) c.6745A>T (p.Thr2249Ser) c.11260A>T (p.Thr3754Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13717362T>C | CA182919 | DNAH5 | c.12658A>G (p.Thr4220Ala) c.12613A>G (p.Thr4205Ala) c.12766A>G (p.Thr4256Ala) c.11671A>G (p.Thr3891Ala) c.7855A>G (p.Thr2619Ala) c.7408A>G (p.Thr2470Ala) c.6745A>G (p.Thr2249Ala) c.11260A>G (p.Thr3754Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717362T>G | CA359206603 | DNAH5 | c.12658A>C (p.Thr4220Pro) c.12613A>C (p.Thr4205Pro) c.12766A>C (p.Thr4256Pro) c.11671A>C (p.Thr3891Pro) c.7855A>C (p.Thr2619Pro) c.7408A>C (p.Thr2470Pro) c.6745A>C (p.Thr2249Pro) c.11260A>C (p.Thr3754Pro) | |
| 5 | g.13717362T= | CA1528407014 | DNAH5 | c.12658A= (p.Thr4220=) c.12613A= (p.Thr4205=) c.12766A= (p.Thr4256=) c.11671A= (p.Thr3891=) c.7855A= (p.Thr2619=) c.7408A= (p.Thr2470=) c.6745A= (p.Thr2249=) c.11260A= (p.Thr3754=) | |
| 5 | g.13717363G>A | CA443254521 | DNAH5 | c.12657C>T (p.Ala4219=) c.12612C>T (p.Ala4204=) c.12765C>T (p.Ala4255=) c.11670C>T (p.Ala3890=) c.7854C>T (p.Ala2618=) c.7407C>T (p.Ala2469=) c.6744C>T (p.Ala2248=) c.11259C>T (p.Ala3753=) | dbSNP gnomAD v2 |
| 5 | g.13717363G>C | CA443254517 | DNAH5 | c.12657C>G (p.Ala4219=) c.12612C>G (p.Ala4204=) c.12765C>G (p.Ala4255=) c.11670C>G (p.Ala3890=) c.7854C>G (p.Ala2618=) c.7407C>G (p.Ala2469=) c.6744C>G (p.Ala2248=) c.11259C>G (p.Ala3753=) | |
| 5 | g.13717363G= | CA1528407015 | DNAH5 | c.12657C= (p.Ala4219=) c.12612C= (p.Ala4204=) c.12765C= (p.Ala4255=) c.11670C= (p.Ala3890=) c.7854C= (p.Ala2618=) c.7407C= (p.Ala2469=) c.6744C= (p.Ala2248=) c.11259C= (p.Ala3753=) | |
| 5 | g.13717363G>T | CA443254518 | DNAH5 | c.12657C>A (p.Ala4219=) c.12612C>A (p.Ala4204=) c.12765C>A (p.Ala4255=) c.11670C>A (p.Ala3890=) c.7854C>A (p.Ala2618=) c.7407C>A (p.Ala2469=) c.6744C>A (p.Ala2248=) c.11259C>A (p.Ala3753=) | |
| 5 | g.13717364G>A | CA359206608 | DNAH5 | c.12656C>T (p.Ala4219Val) c.12611C>T (p.Ala4204Val) c.12764C>T (p.Ala4255Val) c.11669C>T (p.Ala3890Val) c.7853C>T (p.Ala2618Val) c.7406C>T (p.Ala2469Val) c.6743C>T (p.Ala2248Val) c.11258C>T (p.Ala3753Val) | |
| 5 | g.13717364G>C | CA359206611 | DNAH5 | c.12656C>G (p.Ala4219Gly) c.12611C>G (p.Ala4204Gly) c.12764C>G (p.Ala4255Gly) c.11669C>G (p.Ala3890Gly) c.7853C>G (p.Ala2618Gly) c.7406C>G (p.Ala2469Gly) c.6743C>G (p.Ala2248Gly) c.11258C>G (p.Ala3753Gly) | |
| 5 | g.13717364G>T | CA359206604 | DNAH5 | c.12656C>A (p.Ala4219Asp) c.12611C>A (p.Ala4204Asp) c.12764C>A (p.Ala4255Asp) c.11669C>A (p.Ala3890Asp) c.7853C>A (p.Ala2618Asp) c.7406C>A (p.Ala2469Asp) c.6743C>A (p.Ala2248Asp) c.11258C>A (p.Ala3753Asp) | gnomAD v4 |
| 5 | g.13717365C>A | CA359206621 | DNAH5 | c.12655G>T (p.Ala4219Ser) c.12610G>T (p.Ala4204Ser) c.12763G>T (p.Ala4255Ser) c.11668G>T (p.Ala3890Ser) c.7852G>T (p.Ala2618Ser) c.7405G>T (p.Ala2469Ser) c.6742G>T (p.Ala2248Ser) c.11257G>T (p.Ala3753Ser) | |
| 5 | g.13717365C= | CA1528407016 | DNAH5 | c.12655G= (p.Ala4219=) c.12610G= (p.Ala4204=) c.12763G= (p.Ala4255=) c.11668G= (p.Ala3890=) c.7852G= (p.Ala2618=) c.7405G= (p.Ala2469=) c.6742G= (p.Ala2248=) c.11257G= (p.Ala3753=) | |
| 5 | g.13717365C>G | CA359206633 | DNAH5 | c.12655G>C (p.Ala4219Pro) c.12610G>C (p.Ala4204Pro) c.12763G>C (p.Ala4255Pro) c.11668G>C (p.Ala3890Pro) c.7852G>C (p.Ala2618Pro) c.7405G>C (p.Ala2469Pro) c.6742G>C (p.Ala2248Pro) c.11257G>C (p.Ala3753Pro) | |
| 5 | g.13717365C>T | CA247436 | DNAH5 | c.12655G>A (p.Ala4219Thr) c.12610G>A (p.Ala4204Thr) c.12763G>A (p.Ala4255Thr) c.11668G>A (p.Ala3890Thr) c.7852G>A (p.Ala2618Thr) c.7405G>A (p.Ala2469Thr) c.6742G>A (p.Ala2248Thr) c.11257G>A (p.Ala3753Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13717366A>C | CA359206639 | DNAH5 | c.12654T>G (p.Asn4218Lys) c.12609T>G (p.Asn4203Lys) c.12762T>G (p.Asn4254Lys) c.11667T>G (p.Asn3889Lys) c.7851T>G (p.Asn2617Lys) c.7404T>G (p.Asn2468Lys) c.6741T>G (p.Asn2247Lys) c.11256T>G (p.Asn3752Lys) | |
| 5 | g.13717366A>G | CA443254524 | DNAH5 | c.12654T>C (p.Asn4218=) c.12609T>C (p.Asn4203=) c.12762T>C (p.Asn4254=) c.11667T>C (p.Asn3889=) c.7851T>C (p.Asn2617=) c.7404T>C (p.Asn2468=) c.6741T>C (p.Asn2247=) c.11256T>C (p.Asn3752=) | ClinVar |
| 5 | g.13717366A>T | CA359206647 | DNAH5 | c.12654T>A (p.Asn4218Lys) c.12609T>A (p.Asn4203Lys) c.12762T>A (p.Asn4254Lys) c.11667T>A (p.Asn3889Lys) c.7851T>A (p.Asn2617Lys) c.7404T>A (p.Asn2468Lys) c.6741T>A (p.Asn2247Lys) c.11256T>A (p.Asn3752Lys) | |
| 5 | g.13717367T>A | CA359206657 | DNAH5 | c.12653A>T (p.Asn4218Ile) c.12608A>T (p.Asn4203Ile) c.12761A>T (p.Asn4254Ile) c.11666A>T (p.Asn3889Ile) c.7850A>T (p.Asn2617Ile) c.7403A>T (p.Asn2468Ile) c.6740A>T (p.Asn2247Ile) c.11255A>T (p.Asn3752Ile) | |
| 5 | g.13717367T>C | CA359206651 | DNAH5 | c.12653A>G (p.Asn4218Ser) c.12608A>G (p.Asn4203Ser) c.12761A>G (p.Asn4254Ser) c.11666A>G (p.Asn3889Ser) c.7850A>G (p.Asn2617Ser) c.7403A>G (p.Asn2468Ser) c.6740A>G (p.Asn2247Ser) c.11255A>G (p.Asn3752Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13717367T>G | CA359206655 | DNAH5 | c.12653A>C (p.Asn4218Thr) c.12608A>C (p.Asn4203Thr) c.12761A>C (p.Asn4254Thr) c.11666A>C (p.Asn3889Thr) c.7850A>C (p.Asn2617Thr) c.7403A>C (p.Asn2468Thr) c.6740A>C (p.Asn2247Thr) c.11255A>C (p.Asn3752Thr) | |
| 5 | g.13717367T= | CA1528407017 | DNAH5 | c.12653A= (p.Asn4218=) c.12608A= (p.Asn4203=) c.12761A= (p.Asn4254=) c.11666A= (p.Asn3889=) c.7850A= (p.Asn2617=) c.7403A= (p.Asn2468=) c.6740A= (p.Asn2247=) c.11255A= (p.Asn3752=) | |
| 5 | g.13717367_13717370delinsACTGTCTCTTAT | CA2580071991 | DNAH5 | c.12650_12653delinsATAAGAGACAGT (p.Phe4217TyrfsTer32) c.12605_12608delinsATAAGAGACAGT (p.Phe4202TyrfsTer32) c.12758_12761delinsATAAGAGACAGT (p.Phe4253TyrfsTer32) c.12758_12761delinsATAAGAGACAGT (p.Phe4253TyrfsTer23) c.11663_11666delinsATAAGAGACAGT (p.Phe3888TyrfsTer32) c.12758_12761delinsATAAGAGACAGT (p.Phe4253TyrfsTer27) c.7847_7850delinsATAAGAGACAGT (p.Phe2616TyrfsTer32) c.7400_7403delinsATAAGAGACAGT (p.Phe2467TyrfsTer32) c.6737_6740delinsATAAGAGACAGT (p.Phe2246TyrfsTer32) c.11252_11255delinsATAAGAGACAGT (p.Phe3751TyrfsTer32) | ClinVar |
| 5 | g.13717368T>A | CA359206662 | DNAH5 | c.12652A>T (p.Asn4218Tyr) c.12607A>T (p.Asn4203Tyr) c.12760A>T (p.Asn4254Tyr) c.11665A>T (p.Asn3889Tyr) c.7849A>T (p.Asn2617Tyr) c.7402A>T (p.Asn2468Tyr) c.6739A>T (p.Asn2247Tyr) c.11254A>T (p.Asn3752Tyr) | |
| 5 | g.13717368T>C | CA359206663 | DNAH5 | c.12652A>G (p.Asn4218Asp) c.12607A>G (p.Asn4203Asp) c.12760A>G (p.Asn4254Asp) c.11665A>G (p.Asn3889Asp) c.7849A>G (p.Asn2617Asp) c.7402A>G (p.Asn2468Asp) c.6739A>G (p.Asn2247Asp) c.11254A>G (p.Asn3752Asp) | |
| 5 | g.13717368T>G | CA359206669 | DNAH5 | c.12652A>C (p.Asn4218His) c.12607A>C (p.Asn4203His) c.12760A>C (p.Asn4254His) c.11665A>C (p.Asn3889His) c.7849A>C (p.Asn2617His) c.7402A>C (p.Asn2468His) c.6739A>C (p.Asn2247His) c.11254A>C (p.Asn3752His) | |
| 5 | g.13717369A>C | CA359206675 | DNAH5 | c.12651T>G (p.Phe4217Leu) c.12606T>G (p.Phe4202Leu) c.12759T>G (p.Phe4253Leu) c.11664T>G (p.Phe3888Leu) c.7848T>G (p.Phe2616Leu) c.7401T>G (p.Phe2467Leu) c.6738T>G (p.Phe2246Leu) c.11253T>G (p.Phe3751Leu) | |
| 5 | g.13717369A>G | CA443254537 | DNAH5 | c.12651T>C (p.Phe4217=) c.12606T>C (p.Phe4202=) c.12759T>C (p.Phe4253=) c.11664T>C (p.Phe3888=) c.7848T>C (p.Phe2616=) c.7401T>C (p.Phe2467=) c.6738T>C (p.Phe2246=) c.11253T>C (p.Phe3751=) | |
| 5 | g.13717369A>T | CA359206678 | DNAH5 | c.12651T>A (p.Phe4217Leu) c.12606T>A (p.Phe4202Leu) c.12759T>A (p.Phe4253Leu) c.11664T>A (p.Phe3888Leu) c.7848T>A (p.Phe2616Leu) c.7401T>A (p.Phe2467Leu) c.6738T>A (p.Phe2246Leu) c.11253T>A (p.Phe3751Leu) | |
| 5 | g.13717370A= | CA1528407018 | DNAH5 | c.12650T= (p.Phe4217=) c.12605T= (p.Phe4202=) c.12758T= (p.Phe4253=) c.11663T= (p.Phe3888=) c.7847T= (p.Phe2616=) c.7400T= (p.Phe2467=) c.6737T= (p.Phe2246=) c.11252T= (p.Phe3751=) | |
| 5 | g.13717370A>C | CA359206703 | DNAH5 | c.12650T>G (p.Phe4217Cys) c.12605T>G (p.Phe4202Cys) c.12758T>G (p.Phe4253Cys) c.11663T>G (p.Phe3888Cys) c.7847T>G (p.Phe2616Cys) c.7400T>G (p.Phe2467Cys) c.6737T>G (p.Phe2246Cys) c.11252T>G (p.Phe3751Cys) | |
| 5 | g.13717370A>G | CA359206697 | DNAH5 | c.12650T>C (p.Phe4217Ser) c.12605T>C (p.Phe4202Ser) c.12758T>C (p.Phe4253Ser) c.11663T>C (p.Phe3888Ser) c.7847T>C (p.Phe2616Ser) c.7400T>C (p.Phe2467Ser) c.6737T>C (p.Phe2246Ser) c.11252T>C (p.Phe3751Ser) | gnomAD v4 |
| 5 | g.13717370A>T | CA113919197 | DNAH5 | c.12650T>A (p.Phe4217Tyr) c.12605T>A (p.Phe4202Tyr) c.12758T>A (p.Phe4253Tyr) c.11663T>A (p.Phe3888Tyr) c.7847T>A (p.Phe2616Tyr) c.7400T>A (p.Phe2467Tyr) c.6737T>A (p.Phe2246Tyr) c.11252T>A (p.Phe3751Tyr) | dbSNP gnomAD v4 |
| 5 | g.13717371A>C | CA359206712 | DNAH5 | c.12649T>G (p.Phe4217Val) c.12604T>G (p.Phe4202Val) c.12757T>G (p.Phe4253Val) c.11662T>G (p.Phe3888Val) c.7846T>G (p.Phe2616Val) c.7399T>G (p.Phe2467Val) c.6736T>G (p.Phe2246Val) c.11251T>G (p.Phe3751Val) | |
| 5 | g.13717371A>G | CA359206733 | DNAH5 | c.12649T>C (p.Phe4217Leu) c.12604T>C (p.Phe4202Leu) c.12757T>C (p.Phe4253Leu) c.11662T>C (p.Phe3888Leu) c.7846T>C (p.Phe2616Leu) c.7399T>C (p.Phe2467Leu) c.6736T>C (p.Phe2246Leu) c.11251T>C (p.Phe3751Leu) | |
| 5 | g.13717371A>T | CA359206718 | DNAH5 | c.12649T>A (p.Phe4217Ile) c.12604T>A (p.Phe4202Ile) c.12757T>A (p.Phe4253Ile) c.11662T>A (p.Phe3888Ile) c.7846T>A (p.Phe2616Ile) c.7399T>A (p.Phe2467Ile) c.6736T>A (p.Phe2246Ile) c.11251T>A (p.Phe3751Ile) | |
| 5 | g.13717372G>A | CA443254544 | DNAH5 | c.12648C>T (p.Asp4216=) c.12603C>T (p.Asp4201=) c.12756C>T (p.Asp4252=) c.11661C>T (p.Asp3887=) c.7845C>T (p.Asp2615=) c.7398C>T (p.Asp2466=) c.6735C>T (p.Asp2245=) c.11250C>T (p.Asp3750=) | |
| 5 | g.13717372G>C | CA359206734 | DNAH5 | c.12648C>G (p.Asp4216Glu) c.12603C>G (p.Asp4201Glu) c.12756C>G (p.Asp4252Glu) c.11661C>G (p.Asp3887Glu) c.7845C>G (p.Asp2615Glu) c.7398C>G (p.Asp2466Glu) c.6735C>G (p.Asp2245Glu) c.11250C>G (p.Asp3750Glu) | |
| 5 | g.13717372G>T | CA359206735 | DNAH5 | c.12648C>A (p.Asp4216Glu) c.12603C>A (p.Asp4201Glu) c.12756C>A (p.Asp4252Glu) c.11661C>A (p.Asp3887Glu) c.7845C>A (p.Asp2615Glu) c.7398C>A (p.Asp2466Glu) c.6735C>A (p.Asp2245Glu) c.11250C>A (p.Asp3750Glu) | |
| 5 | g.13717373T>A | CA359206736 | DNAH5 | c.12647A>T (p.Asp4216Val) c.12602A>T (p.Asp4201Val) c.12755A>T (p.Asp4252Val) c.11660A>T (p.Asp3887Val) c.7844A>T (p.Asp2615Val) c.7397A>T (p.Asp2466Val) c.6734A>T (p.Asp2245Val) c.11249A>T (p.Asp3750Val) | |
| 5 | g.13717373T>C | CA359206740 | DNAH5 | c.12647A>G (p.Asp4216Gly) c.12602A>G (p.Asp4201Gly) c.12755A>G (p.Asp4252Gly) c.11660A>G (p.Asp3887Gly) c.7844A>G (p.Asp2615Gly) c.7397A>G (p.Asp2466Gly) c.6734A>G (p.Asp2245Gly) c.11249A>G (p.Asp3750Gly) | |
| 5 | g.13717373T>G | CA359206747 | DNAH5 | c.12647A>C (p.Asp4216Ala) c.12602A>C (p.Asp4201Ala) c.12755A>C (p.Asp4252Ala) c.11660A>C (p.Asp3887Ala) c.7844A>C (p.Asp2615Ala) c.7397A>C (p.Asp2466Ala) c.6734A>C (p.Asp2245Ala) c.11249A>C (p.Asp3750Ala) | |
| 5 | g.13717374C>A | CA359206752 | DNAH5 | c.12646G>T (p.Asp4216Tyr) c.12601G>T (p.Asp4201Tyr) c.12754G>T (p.Asp4252Tyr) c.11659G>T (p.Asp3887Tyr) c.7843G>T (p.Asp2615Tyr) c.7396G>T (p.Asp2466Tyr) c.6733G>T (p.Asp2245Tyr) c.11248G>T (p.Asp3750Tyr) | |
| 5 | g.13717374C= | CA1528407019 | DNAH5 | c.12646G= (p.Asp4216=) c.12601G= (p.Asp4201=) c.12754G= (p.Asp4252=) c.11659G= (p.Asp3887=) c.7843G= (p.Asp2615=) c.7396G= (p.Asp2466=) c.6733G= (p.Asp2245=) c.11248G= (p.Asp3750=) | |
| 5 | g.13717374C>G | CA359206761 | DNAH5 | c.12646G>C (p.Asp4216His) c.12601G>C (p.Asp4201His) c.12754G>C (p.Asp4252His) c.11659G>C (p.Asp3887His) c.7843G>C (p.Asp2615His) c.7396G>C (p.Asp2466His) c.6733G>C (p.Asp2245His) c.11248G>C (p.Asp3750His) | |
| 5 | g.13717374C>T | CA3201573 | DNAH5 | c.12646G>A (p.Asp4216Asn) c.12601G>A (p.Asp4201Asn) c.12754G>A (p.Asp4252Asn) c.11659G>A (p.Asp3887Asn) c.7843G>A (p.Asp2615Asn) c.7396G>A (p.Asp2466Asn) c.6733G>A (p.Asp2245Asn) c.11248G>A (p.Asp3750Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717375C>A | CA443254554 | DNAH5 | c.12645G>T (p.Ala4215=) c.12600G>T (p.Ala4200=) c.12753G>T (p.Ala4251=) c.11658G>T (p.Ala3886=) c.7842G>T (p.Ala2614=) c.7395G>T (p.Ala2465=) c.6732G>T (p.Ala2244=) c.11247G>T (p.Ala3749=) | |
| 5 | g.13717375C= | CA1528407020 | DNAH5 | c.12645G= (p.Ala4215=) c.12600G= (p.Ala4200=) c.12753G= (p.Ala4251=) c.11658G= (p.Ala3886=) c.7842G= (p.Ala2614=) c.7395G= (p.Ala2465=) c.6732G= (p.Ala2244=) c.11247G= (p.Ala3749=) | |
| 5 | g.13717375C>G | CA443254557 | DNAH5 | c.12645G>C (p.Ala4215=) c.12600G>C (p.Ala4200=) c.12753G>C (p.Ala4251=) c.11658G>C (p.Ala3886=) c.7842G>C (p.Ala2614=) c.7395G>C (p.Ala2465=) c.6732G>C (p.Ala2244=) c.11247G>C (p.Ala3749=) | |
| 5 | g.13717375C>T | CA3201574 | DNAH5 | c.12645G>A (p.Ala4215=) c.12600G>A (p.Ala4200=) c.12753G>A (p.Ala4251=) c.11658G>A (p.Ala3886=) c.7842G>A (p.Ala2614=) c.7395G>A (p.Ala2465=) c.6732G>A (p.Ala2244=) c.11247G>A (p.Ala3749=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717376G>A | CA3201575 | DNAH5 | c.12644C>T (p.Ala4215Val) c.12599C>T (p.Ala4200Val) c.12752C>T (p.Ala4251Val) c.11657C>T (p.Ala3886Val) c.7841C>T (p.Ala2614Val) c.7394C>T (p.Ala2465Val) c.6731C>T (p.Ala2244Val) c.11246C>T (p.Ala3749Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717376G>C | CA359206773 | DNAH5 | c.12644C>G (p.Ala4215Gly) c.12599C>G (p.Ala4200Gly) c.12752C>G (p.Ala4251Gly) c.11657C>G (p.Ala3886Gly) c.7841C>G (p.Ala2614Gly) c.7394C>G (p.Ala2465Gly) c.6731C>G (p.Ala2244Gly) c.11246C>G (p.Ala3749Gly) | |
| 5 | g.13717376G= | CA1528407021 | DNAH5 | c.12644C= (p.Ala4215=) c.12599C= (p.Ala4200=) c.12752C= (p.Ala4251=) c.11657C= (p.Ala3886=) c.7841C= (p.Ala2614=) c.7394C= (p.Ala2465=) c.6731C= (p.Ala2244=) c.11246C= (p.Ala3749=) | |
| 5 | g.13717376G>T | CA359206776 | DNAH5 | c.12644C>A (p.Ala4215Glu) c.12599C>A (p.Ala4200Glu) c.12752C>A (p.Ala4251Glu) c.11657C>A (p.Ala3886Glu) c.7841C>A (p.Ala2614Glu) c.7394C>A (p.Ala2465Glu) c.6731C>A (p.Ala2244Glu) c.11246C>A (p.Ala3749Glu) | gnomAD v4 |
| 5 | g.13717377C>A | CA359206785 | DNAH5 | c.12643G>T (p.Ala4215Ser) c.12598G>T (p.Ala4200Ser) c.12751G>T (p.Ala4251Ser) c.11656G>T (p.Ala3886Ser) c.7840G>T (p.Ala2614Ser) c.7393G>T (p.Ala2465Ser) c.6730G>T (p.Ala2244Ser) c.11245G>T (p.Ala3749Ser) | |
| 5 | g.13717377C>G | CA359206804 | DNAH5 | c.12643G>C (p.Ala4215Pro) c.12598G>C (p.Ala4200Pro) c.12751G>C (p.Ala4251Pro) c.11656G>C (p.Ala3886Pro) c.7840G>C (p.Ala2614Pro) c.7393G>C (p.Ala2465Pro) c.6730G>C (p.Ala2244Pro) c.11245G>C (p.Ala3749Pro) | |
| 5 | g.13717377C>T | CA359206799 | DNAH5 | c.12643G>A (p.Ala4215Thr) c.12598G>A (p.Ala4200Thr) c.12751G>A (p.Ala4251Thr) c.11656G>A (p.Ala3886Thr) c.7840G>A (p.Ala2614Thr) c.7393G>A (p.Ala2465Thr) c.6730G>A (p.Ala2244Thr) c.11245G>A (p.Ala3749Thr) | |
| 5 | g.13717378T>A | CA359206811 | DNAH5 | c.12642A>T (p.Gln4214His) c.12597A>T (p.Gln4199His) c.12750A>T (p.Gln4250His) c.11655A>T (p.Gln3885His) c.7839A>T (p.Gln2613His) c.7392A>T (p.Gln2464His) c.6729A>T (p.Gln2243His) c.11244A>T (p.Gln3748His) | |
| 5 | g.13717378T>C | CA443254568 | DNAH5 | c.12642A>G (p.Gln4214=) c.12597A>G (p.Gln4199=) c.12750A>G (p.Gln4250=) c.11655A>G (p.Gln3885=) c.7839A>G (p.Gln2613=) c.7392A>G (p.Gln2464=) c.6729A>G (p.Gln2243=) c.11244A>G (p.Gln3748=) | dbSNP gnomAD v4 |
| 5 | g.13717378T>G | CA359206813 | DNAH5 | c.12642A>C (p.Gln4214His) c.12597A>C (p.Gln4199His) c.12750A>C (p.Gln4250His) c.11655A>C (p.Gln3885His) c.7839A>C (p.Gln2613His) c.7392A>C (p.Gln2464His) c.6729A>C (p.Gln2243His) c.11244A>C (p.Gln3748His) | |
| 5 | g.13717378T= | CA1528407022 | DNAH5 | c.12642A= (p.Gln4214=) c.12597A= (p.Gln4199=) c.12750A= (p.Gln4250=) c.11655A= (p.Gln3885=) c.7839A= (p.Gln2613=) c.7392A= (p.Gln2464=) c.6729A= (p.Gln2243=) c.11244A= (p.Gln3748=) | |
| 5 | g.13717379T>A | CA359206817 | DNAH5 | c.12641A>T (p.Gln4214Leu) c.12596A>T (p.Gln4199Leu) c.12749A>T (p.Gln4250Leu) c.11654A>T (p.Gln3885Leu) c.7838A>T (p.Gln2613Leu) c.7391A>T (p.Gln2464Leu) c.6728A>T (p.Gln2243Leu) c.11243A>T (p.Gln3748Leu) | |
| 5 | g.13717379T>C | CA359206818 | DNAH5 | c.12641A>G (p.Gln4214Arg) c.12596A>G (p.Gln4199Arg) c.12749A>G (p.Gln4250Arg) c.11654A>G (p.Gln3885Arg) c.7838A>G (p.Gln2613Arg) c.7391A>G (p.Gln2464Arg) c.6728A>G (p.Gln2243Arg) c.11243A>G (p.Gln3748Arg) | |
| 5 | g.13717379T>G | CA359206819 | DNAH5 | c.12641A>C (p.Gln4214Pro) c.12596A>C (p.Gln4199Pro) c.12749A>C (p.Gln4250Pro) c.11654A>C (p.Gln3885Pro) c.7838A>C (p.Gln2613Pro) c.7391A>C (p.Gln2464Pro) c.6728A>C (p.Gln2243Pro) c.11243A>C (p.Gln3748Pro) | |
| 5 | g.13717380G>A | CA3201577 | DNAH5 | c.12640C>T (p.Gln4214Ter) c.12595C>T (p.Gln4199Ter) c.12748C>T (p.Gln4250Ter) c.11653C>T (p.Gln3885Ter) c.7837C>T (p.Gln2613Ter) c.7390C>T (p.Gln2464Ter) c.6727C>T (p.Gln2243Ter) c.11242C>T (p.Gln3748Ter) | dbSNP ExAC gnomAD v2 |
| 5 | g.13717380G>C | CA3201576 | DNAH5 | c.12640C>G (p.Gln4214Glu) c.12595C>G (p.Gln4199Glu) c.12748C>G (p.Gln4250Glu) c.11653C>G (p.Gln3885Glu) c.7837C>G (p.Gln2613Glu) c.7390C>G (p.Gln2464Glu) c.6727C>G (p.Gln2243Glu) c.11242C>G (p.Gln3748Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717380G= | CA1528407023 | DNAH5 | c.12640C= (p.Gln4214=) c.12595C= (p.Gln4199=) c.12748C= (p.Gln4250=) c.11653C= (p.Gln3885=) c.7837C= (p.Gln2613=) c.7390C= (p.Gln2464=) c.6727C= (p.Gln2243=) c.11242C= (p.Gln3748=) | |
| 5 | g.13717380G>T | CA359206853 | DNAH5 | c.12640C>A (p.Gln4214Lys) c.12595C>A (p.Gln4199Lys) c.12748C>A (p.Gln4250Lys) c.11653C>A (p.Gln3885Lys) c.7837C>A (p.Gln2613Lys) c.7390C>A (p.Gln2464Lys) c.6727C>A (p.Gln2243Lys) c.11242C>A (p.Gln3748Lys) | |
| 5 | g.13717381G>A | CA443254575 | DNAH5 | c.12639C>T (p.Asn4213=) c.12594C>T (p.Asn4198=) c.12747C>T (p.Asn4249=) c.11652C>T (p.Asn3884=) c.7836C>T (p.Asn2612=) c.7389C>T (p.Asn2463=) c.6726C>T (p.Asn2242=) c.11241C>T (p.Asn3747=) | |
| 5 | g.13717381G>C | CA359206857 | DNAH5 | c.12639C>G (p.Asn4213Lys) c.12594C>G (p.Asn4198Lys) c.12747C>G (p.Asn4249Lys) c.11652C>G (p.Asn3884Lys) c.7836C>G (p.Asn2612Lys) c.7389C>G (p.Asn2463Lys) c.6726C>G (p.Asn2242Lys) c.11241C>G (p.Asn3747Lys) | |
| 5 | g.13717381G>T | CA359206868 | DNAH5 | c.12639C>A (p.Asn4213Lys) c.12594C>A (p.Asn4198Lys) c.12747C>A (p.Asn4249Lys) c.11652C>A (p.Asn3884Lys) c.7836C>A (p.Asn2612Lys) c.7389C>A (p.Asn2463Lys) c.6726C>A (p.Asn2242Lys) c.11241C>A (p.Asn3747Lys) | |
| 5 | g.13717382T>A | CA359206880 | DNAH5 | c.12638A>T (p.Asn4213Ile) c.12593A>T (p.Asn4198Ile) c.12746A>T (p.Asn4249Ile) c.11651A>T (p.Asn3884Ile) c.7835A>T (p.Asn2612Ile) c.7388A>T (p.Asn2463Ile) c.6725A>T (p.Asn2242Ile) c.11240A>T (p.Asn3747Ile) | |
| 5 | g.13717382T>C | CA359206882 | DNAH5 | c.12638A>G (p.Asn4213Ser) c.12593A>G (p.Asn4198Ser) c.12746A>G (p.Asn4249Ser) c.11651A>G (p.Asn3884Ser) c.7835A>G (p.Asn2612Ser) c.7388A>G (p.Asn2463Ser) c.6725A>G (p.Asn2242Ser) c.11240A>G (p.Asn3747Ser) | |
| 5 | g.13717382T>G | CA359206874 | DNAH5 | c.12638A>C (p.Asn4213Thr) c.12593A>C (p.Asn4198Thr) c.12746A>C (p.Asn4249Thr) c.11651A>C (p.Asn3884Thr) c.7835A>C (p.Asn2612Thr) c.7388A>C (p.Asn2463Thr) c.6725A>C (p.Asn2242Thr) c.11240A>C (p.Asn3747Thr) | |
| 5 | g.13717383T>A | CA359206885 | DNAH5 | c.12637A>T (p.Asn4213Tyr) c.12592A>T (p.Asn4198Tyr) c.12745A>T (p.Asn4249Tyr) c.11650A>T (p.Asn3884Tyr) c.7834A>T (p.Asn2612Tyr) c.7387A>T (p.Asn2463Tyr) c.6724A>T (p.Asn2242Tyr) c.11239A>T (p.Asn3747Tyr) | |
| 5 | g.13717383T>C | CA359206898 | DNAH5 | c.12637A>G (p.Asn4213Asp) c.12592A>G (p.Asn4198Asp) c.12745A>G (p.Asn4249Asp) c.11650A>G (p.Asn3884Asp) c.7834A>G (p.Asn2612Asp) c.7387A>G (p.Asn2463Asp) c.6724A>G (p.Asn2242Asp) c.11239A>G (p.Asn3747Asp) | |
| 5 | g.13717383T>G | CA359206902 | DNAH5 | c.12637A>C (p.Asn4213His) c.12592A>C (p.Asn4198His) c.12745A>C (p.Asn4249His) c.11650A>C (p.Asn3884His) c.7834A>C (p.Asn2612His) c.7387A>C (p.Asn2463His) c.6724A>C (p.Asn2242His) c.11239A>C (p.Asn3747His) | |
| 5 | g.13717384A>C | CA359206903 | DNAH5 | c.12636T>G (p.Phe4212Leu) c.12591T>G (p.Phe4197Leu) c.12744T>G (p.Phe4248Leu) c.11649T>G (p.Phe3883Leu) c.7833T>G (p.Phe2611Leu) c.7386T>G (p.Phe2462Leu) c.6723T>G (p.Phe2241Leu) c.11238T>G (p.Phe3746Leu) | |
| 5 | g.13717384A>G | CA443254586 | DNAH5 | c.12636T>C (p.Phe4212=) c.12591T>C (p.Phe4197=) c.12744T>C (p.Phe4248=) c.11649T>C (p.Phe3883=) c.7833T>C (p.Phe2611=) c.7386T>C (p.Phe2462=) c.6723T>C (p.Phe2241=) c.11238T>C (p.Phe3746=) | |
| 5 | g.13717384A>T | CA359206907 | DNAH5 | c.12636T>A (p.Phe4212Leu) c.12591T>A (p.Phe4197Leu) c.12744T>A (p.Phe4248Leu) c.11649T>A (p.Phe3883Leu) c.7833T>A (p.Phe2611Leu) c.7386T>A (p.Phe2462Leu) c.6723T>A (p.Phe2241Leu) c.11238T>A (p.Phe3746Leu) | |
| 5 | g.13717385A= | CA1528407024 | DNAH5 | c.12635T= (p.Phe4212=) c.12590T= (p.Phe4197=) c.12743T= (p.Phe4248=) c.11648T= (p.Phe3883=) c.7832T= (p.Phe2611=) c.7385T= (p.Phe2462=) c.6722T= (p.Phe2241=) c.11237T= (p.Phe3746=) | |
| 5 | g.13717385A>C | CA113919214 | DNAH5 | c.12635T>G (p.Phe4212Cys) c.12590T>G (p.Phe4197Cys) c.12743T>G (p.Phe4248Cys) c.11648T>G (p.Phe3883Cys) c.7832T>G (p.Phe2611Cys) c.7385T>G (p.Phe2462Cys) c.6722T>G (p.Phe2241Cys) c.11237T>G (p.Phe3746Cys) | dbSNP gnomAD v4 |
| 5 | g.13717385A>G | CA359206917 | DNAH5 | c.12635T>C (p.Phe4212Ser) c.12590T>C (p.Phe4197Ser) c.12743T>C (p.Phe4248Ser) c.11648T>C (p.Phe3883Ser) c.7832T>C (p.Phe2611Ser) c.7385T>C (p.Phe2462Ser) c.6722T>C (p.Phe2241Ser) c.11237T>C (p.Phe3746Ser) | |
| 5 | g.13717385A>T | CA359206920 | DNAH5 | c.12635T>A (p.Phe4212Tyr) c.12590T>A (p.Phe4197Tyr) c.12743T>A (p.Phe4248Tyr) c.11648T>A (p.Phe3883Tyr) c.7832T>A (p.Phe2611Tyr) c.7385T>A (p.Phe2462Tyr) c.6722T>A (p.Phe2241Tyr) c.11237T>A (p.Phe3746Tyr) | |
| 5 | g.13717386A>C | CA359206931 | DNAH5 | c.12634T>G (p.Phe4212Val) c.12589T>G (p.Phe4197Val) c.12742T>G (p.Phe4248Val) c.11647T>G (p.Phe3883Val) c.7831T>G (p.Phe2611Val) c.7384T>G (p.Phe2462Val) c.6721T>G (p.Phe2241Val) c.11236T>G (p.Phe3746Val) | |
| 5 | g.13717386A>G | CA359206939 | DNAH5 | c.12634T>C (p.Phe4212Leu) c.12589T>C (p.Phe4197Leu) c.12742T>C (p.Phe4248Leu) c.11647T>C (p.Phe3883Leu) c.7831T>C (p.Phe2611Leu) c.7384T>C (p.Phe2462Leu) c.6721T>C (p.Phe2241Leu) c.11236T>C (p.Phe3746Leu) | |
| 5 | g.13717386A>T | CA359206941 | DNAH5 | c.12634T>A (p.Phe4212Ile) c.12589T>A (p.Phe4197Ile) c.12742T>A (p.Phe4248Ile) c.11647T>A (p.Phe3883Ile) c.7831T>A (p.Phe2611Ile) c.7384T>A (p.Phe2462Ile) c.6721T>A (p.Phe2241Ile) c.11236T>A (p.Phe3746Ile) | |
| 5 | g.13717387T>A | CA359206948 | DNAH5 | c.12633A>T (p.Glu4211Asp) c.12588A>T (p.Glu4196Asp) c.12741A>T (p.Glu4247Asp) c.11646A>T (p.Glu3882Asp) c.7830A>T (p.Glu2610Asp) c.7383A>T (p.Glu2461Asp) c.6720A>T (p.Glu2240Asp) c.11235A>T (p.Glu3745Asp) | |
| 5 | g.13717387T>C | CA443254596 | DNAH5 | c.12633A>G (p.Glu4211=) c.12588A>G (p.Glu4196=) c.12741A>G (p.Glu4247=) c.11646A>G (p.Glu3882=) c.7830A>G (p.Glu2610=) c.7383A>G (p.Glu2461=) c.6720A>G (p.Glu2240=) c.11235A>G (p.Glu3745=) | gnomAD v4 |
| 5 | g.13717387T>G | CA359206957 | DNAH5 | c.12633A>C (p.Glu4211Asp) c.12588A>C (p.Glu4196Asp) c.12741A>C (p.Glu4247Asp) c.11646A>C (p.Glu3882Asp) c.7830A>C (p.Glu2610Asp) c.7383A>C (p.Glu2461Asp) c.6720A>C (p.Glu2240Asp) c.11235A>C (p.Glu3745Asp) | |
| 5 | g.13717388T>A | CA359206966 | DNAH5 | c.12632A>T (p.Glu4211Val) c.12587A>T (p.Glu4196Val) c.12740A>T (p.Glu4247Val) c.11645A>T (p.Glu3882Val) c.7829A>T (p.Glu2610Val) c.7382A>T (p.Glu2461Val) c.6719A>T (p.Glu2240Val) c.11234A>T (p.Glu3745Val) | |
| 5 | g.13717388T>C | CA359206963 | DNAH5 | c.12632A>G (p.Glu4211Gly) c.12587A>G (p.Glu4196Gly) c.12740A>G (p.Glu4247Gly) c.11645A>G (p.Glu3882Gly) c.7829A>G (p.Glu2610Gly) c.7382A>G (p.Glu2461Gly) c.6719A>G (p.Glu2240Gly) c.11234A>G (p.Glu3745Gly) | |
| 5 | g.13717388T>G | CA359206962 | DNAH5 | c.12632A>C (p.Glu4211Ala) c.12587A>C (p.Glu4196Ala) c.12740A>C (p.Glu4247Ala) c.11645A>C (p.Glu3882Ala) c.7829A>C (p.Glu2610Ala) c.7382A>C (p.Glu2461Ala) c.6719A>C (p.Glu2240Ala) c.11234A>C (p.Glu3745Ala) | |
| 5 | g.13717389C>A | CA359206981 | DNAH5 | c.12631G>T (p.Glu4211Ter) c.12586G>T (p.Glu4196Ter) c.12739G>T (p.Glu4247Ter) c.11644G>T (p.Glu3882Ter) c.7828G>T (p.Glu2610Ter) c.7381G>T (p.Glu2461Ter) c.6718G>T (p.Glu2240Ter) c.11233G>T (p.Glu3745Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717389C= | CA1528407025 | DNAH5 | c.12631G= (p.Glu4211=) c.12586G= (p.Glu4196=) c.12739G= (p.Glu4247=) c.11644G= (p.Glu3882=) c.7828G= (p.Glu2610=) c.7381G= (p.Glu2461=) c.6718G= (p.Glu2240=) c.11233G= (p.Glu3745=) | |
| 5 | g.13717389C>G | CA359206984 | DNAH5 | c.12631G>C (p.Glu4211Gln) c.12586G>C (p.Glu4196Gln) c.12739G>C (p.Glu4247Gln) c.11644G>C (p.Glu3882Gln) c.7828G>C (p.Glu2610Gln) c.7381G>C (p.Glu2461Gln) c.6718G>C (p.Glu2240Gln) c.11233G>C (p.Glu3745Gln) | |
| 5 | g.13717389C>T | CA3201578 | DNAH5 | c.12631G>A (p.Glu4211Lys) c.12586G>A (p.Glu4196Lys) c.12739G>A (p.Glu4247Lys) c.11644G>A (p.Glu3882Lys) c.7828G>A (p.Glu2610Lys) c.7381G>A (p.Glu2461Lys) c.6718G>A (p.Glu2240Lys) c.11233G>A (p.Glu3745Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717390G>A | CA3201579 | DNAH5 | c.12630C>T (p.Tyr4210=) c.12585C>T (p.Tyr4195=) c.12738C>T (p.Tyr4246=) c.11643C>T (p.Tyr3881=) c.7827C>T (p.Tyr2609=) c.7380C>T (p.Tyr2460=) c.6717C>T (p.Tyr2239=) c.11232C>T (p.Tyr3744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717390G>C | CA359206997 | DNAH5 | c.12630C>G (p.Tyr4210Ter) c.12585C>G (p.Tyr4195Ter) c.12738C>G (p.Tyr4246Ter) c.11643C>G (p.Tyr3881Ter) c.7827C>G (p.Tyr2609Ter) c.7380C>G (p.Tyr2460Ter) c.6717C>G (p.Tyr2239Ter) c.11232C>G (p.Tyr3744Ter) | |
| 5 | g.13717390G= | CA1528407026 | DNAH5 | c.12630C= (p.Tyr4210=) c.12585C= (p.Tyr4195=) c.12738C= (p.Tyr4246=) c.11643C= (p.Tyr3881=) c.7827C= (p.Tyr2609=) c.7380C= (p.Tyr2460=) c.6717C= (p.Tyr2239=) c.11232C= (p.Tyr3744=) | |
| 5 | g.13717390G>T | CA359207000 | DNAH5 | c.12630C>A (p.Tyr4210Ter) c.12585C>A (p.Tyr4195Ter) c.12738C>A (p.Tyr4246Ter) c.11643C>A (p.Tyr3881Ter) c.7827C>A (p.Tyr2609Ter) c.7380C>A (p.Tyr2460Ter) c.6717C>A (p.Tyr2239Ter) c.11232C>A (p.Tyr3744Ter) | ClinVar |
| 5 | g.13717391T>A | CA359207022 | DNAH5 | c.12629A>T (p.Tyr4210Phe) c.12584A>T (p.Tyr4195Phe) c.12737A>T (p.Tyr4246Phe) c.11642A>T (p.Tyr3881Phe) c.7826A>T (p.Tyr2609Phe) c.7379A>T (p.Tyr2460Phe) c.6716A>T (p.Tyr2239Phe) c.11231A>T (p.Tyr3744Phe) | |
| 5 | g.13717391T>C | CA3201580 | DNAH5 | c.12629A>G (p.Tyr4210Cys) c.12584A>G (p.Tyr4195Cys) c.12737A>G (p.Tyr4246Cys) c.11642A>G (p.Tyr3881Cys) c.7826A>G (p.Tyr2609Cys) c.7379A>G (p.Tyr2460Cys) c.6716A>G (p.Tyr2239Cys) c.11231A>G (p.Tyr3744Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717391T>G | CA359207028 | DNAH5 | c.12629A>C (p.Tyr4210Ser) c.12584A>C (p.Tyr4195Ser) c.12737A>C (p.Tyr4246Ser) c.11642A>C (p.Tyr3881Ser) c.7826A>C (p.Tyr2609Ser) c.7379A>C (p.Tyr2460Ser) c.6716A>C (p.Tyr2239Ser) c.11231A>C (p.Tyr3744Ser) | |
| 5 | g.13717391T= | CA1528407027 | DNAH5 | c.12629A= (p.Tyr4210=) c.12584A= (p.Tyr4195=) c.12737A= (p.Tyr4246=) c.11642A= (p.Tyr3881=) c.7826A= (p.Tyr2609=) c.7379A= (p.Tyr2460=) c.6716A= (p.Tyr2239=) c.11231A= (p.Tyr3744=) | |
| 5 | g.13717392A>C | CA359207034 | DNAH5 | c.12628T>G (p.Tyr4210Asp) c.12583T>G (p.Tyr4195Asp) c.12736T>G (p.Tyr4246Asp) c.11641T>G (p.Tyr3881Asp) c.7825T>G (p.Tyr2609Asp) c.7378T>G (p.Tyr2460Asp) c.6715T>G (p.Tyr2239Asp) c.11230T>G (p.Tyr3744Asp) | |
| 5 | g.13717392A>G | CA359207038 | DNAH5 | c.12628T>C (p.Tyr4210His) c.12583T>C (p.Tyr4195His) c.12736T>C (p.Tyr4246His) c.11641T>C (p.Tyr3881His) c.7825T>C (p.Tyr2609His) c.7378T>C (p.Tyr2460His) c.6715T>C (p.Tyr2239His) c.11230T>C (p.Tyr3744His) | gnomAD v4 COSMIC |
| 5 | g.13717392A>T | CA359207043 | DNAH5 | c.12628T>A (p.Tyr4210Asn) c.12583T>A (p.Tyr4195Asn) c.12736T>A (p.Tyr4246Asn) c.11641T>A (p.Tyr3881Asn) c.7825T>A (p.Tyr2609Asn) c.7378T>A (p.Tyr2460Asn) c.6715T>A (p.Tyr2239Asn) c.11230T>A (p.Tyr3744Asn) | |
| 5 | g.13717393G>A | CA3201581 | DNAH5 | c.12627C>T (p.Pro4209=) c.12582C>T (p.Pro4194=) c.12735C>T (p.Pro4245=) c.11640C>T (p.Pro3880=) c.7824C>T (p.Pro2608=) c.7377C>T (p.Pro2459=) c.6714C>T (p.Pro2238=) c.11229C>T (p.Pro3743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13717393G>C | CA443254608 | DNAH5 | c.12627C>G (p.Pro4209=) c.12582C>G (p.Pro4194=) c.12735C>G (p.Pro4245=) c.11640C>G (p.Pro3880=) c.7824C>G (p.Pro2608=) c.7377C>G (p.Pro2459=) c.6714C>G (p.Pro2238=) c.11229C>G (p.Pro3743=) | |
| 5 | g.13717393G= | CA1528407028 | DNAH5 | c.12627C= (p.Pro4209=) c.12582C= (p.Pro4194=) c.12735C= (p.Pro4245=) c.11640C= (p.Pro3880=) c.7824C= (p.Pro2608=) c.7377C= (p.Pro2459=) c.6714C= (p.Pro2238=) c.11229C= (p.Pro3743=) | |
| 5 | g.13717393G>T | CA443254606 | DNAH5 | c.12627C>A (p.Pro4209=) c.12582C>A (p.Pro4194=) c.12735C>A (p.Pro4245=) c.11640C>A (p.Pro3880=) c.7824C>A (p.Pro2608=) c.7377C>A (p.Pro2459=) c.6714C>A (p.Pro2238=) c.11229C>A (p.Pro3743=) | |
| 5 | g.13717394G>A | CA359207073 | DNAH5 | c.12626C>T (p.Pro4209Leu) c.12581C>T (p.Pro4194Leu) c.12734C>T (p.Pro4245Leu) c.11639C>T (p.Pro3880Leu) c.7823C>T (p.Pro2608Leu) c.7376C>T (p.Pro2459Leu) c.6713C>T (p.Pro2238Leu) c.11228C>T (p.Pro3743Leu) | |
| 5 | g.13717394G>C | CA359207063 | DNAH5 | c.12626C>G (p.Pro4209Arg) c.12581C>G (p.Pro4194Arg) c.12734C>G (p.Pro4245Arg) c.11639C>G (p.Pro3880Arg) c.7823C>G (p.Pro2608Arg) c.7376C>G (p.Pro2459Arg) c.6713C>G (p.Pro2238Arg) c.11228C>G (p.Pro3743Arg) | |
| 5 | g.13717394G>T | CA359207057 | DNAH5 | c.12626C>A (p.Pro4209His) c.12581C>A (p.Pro4194His) c.12734C>A (p.Pro4245His) c.11639C>A (p.Pro3880His) c.7823C>A (p.Pro2608His) c.7376C>A (p.Pro2459His) c.6713C>A (p.Pro2238His) c.11228C>A (p.Pro3743His) | |
| 5 | g.13717395G>A | CA113919218 | DNAH5 | c.12625C>T (p.Pro4209Ser) c.12580C>T (p.Pro4194Ser) c.12733C>T (p.Pro4245Ser) c.11638C>T (p.Pro3880Ser) c.7822C>T (p.Pro2608Ser) c.7375C>T (p.Pro2459Ser) c.6712C>T (p.Pro2238Ser) c.11227C>T (p.Pro3743Ser) | dbSNP COSMIC |
| 5 | g.13717395G>C | CA359207079 | DNAH5 | c.12625C>G (p.Pro4209Ala) c.12580C>G (p.Pro4194Ala) c.12733C>G (p.Pro4245Ala) c.11638C>G (p.Pro3880Ala) c.7822C>G (p.Pro2608Ala) c.7375C>G (p.Pro2459Ala) c.6712C>G (p.Pro2238Ala) c.11227C>G (p.Pro3743Ala) | |
| 5 | g.13717395G= | CA1528407029 | DNAH5 | c.12625C= (p.Pro4209=) c.12580C= (p.Pro4194=) c.12733C= (p.Pro4245=) c.11638C= (p.Pro3880=) c.7822C= (p.Pro2608=) c.7375C= (p.Pro2459=) c.6712C= (p.Pro2238=) c.11227C= (p.Pro3743=) | |
| 5 | g.13717395G>T | CA359207078 | DNAH5 | c.12625C>A (p.Pro4209Thr) c.12580C>A (p.Pro4194Thr) c.12733C>A (p.Pro4245Thr) c.11638C>A (p.Pro3880Thr) c.7822C>A (p.Pro2608Thr) c.7375C>A (p.Pro2459Thr) c.6712C>A (p.Pro2238Thr) c.11227C>A (p.Pro3743Thr) | gnomAD v4 |
| 5 | g.13717396G>A | CA443254613 | DNAH5 | c.12624C>T (p.Ile4208=) c.12579C>T (p.Ile4193=) c.12732C>T (p.Ile4244=) c.11637C>T (p.Ile3879=) c.7821C>T (p.Ile2607=) c.7374C>T (p.Ile2458=) c.6711C>T (p.Ile2237=) c.11226C>T (p.Ile3742=) | COSMIC |
| 5 | g.13717396G>C | CA359207080 | DNAH5 | c.12624C>G (p.Ile4208Met) c.12579C>G (p.Ile4193Met) c.12732C>G (p.Ile4244Met) c.11637C>G (p.Ile3879Met) c.7821C>G (p.Ile2607Met) c.7374C>G (p.Ile2458Met) c.6711C>G (p.Ile2237Met) c.11226C>G (p.Ile3742Met) | |
| 5 | g.13717396G>T | CA443254614 | DNAH5 | c.12624C>A (p.Ile4208=) c.12579C>A (p.Ile4193=) c.12732C>A (p.Ile4244=) c.11637C>A (p.Ile3879=) c.7821C>A (p.Ile2607=) c.7374C>A (p.Ile2458=) c.6711C>A (p.Ile2237=) c.11226C>A (p.Ile3742=) | |
| 5 | g.13717397A>C | CA359207112 | DNAH5 | c.12623T>G (p.Ile4208Ser) c.12578T>G (p.Ile4193Ser) c.12731T>G (p.Ile4244Ser) c.11636T>G (p.Ile3879Ser) c.7820T>G (p.Ile2607Ser) c.7373T>G (p.Ile2458Ser) c.6710T>G (p.Ile2237Ser) c.11225T>G (p.Ile3742Ser) | COSMIC |
| 5 | g.13717397A>G | CA359207085 | DNAH5 | c.12623T>C (p.Ile4208Thr) c.12578T>C (p.Ile4193Thr) c.12731T>C (p.Ile4244Thr) c.11636T>C (p.Ile3879Thr) c.7820T>C (p.Ile2607Thr) c.7373T>C (p.Ile2458Thr) c.6710T>C (p.Ile2237Thr) c.11225T>C (p.Ile3742Thr) | |
| 5 | g.13717397A>T | CA359207091 | DNAH5 | c.12623T>A (p.Ile4208Asn) c.12578T>A (p.Ile4193Asn) c.12731T>A (p.Ile4244Asn) c.11636T>A (p.Ile3879Asn) c.7820T>A (p.Ile2607Asn) c.7373T>A (p.Ile2458Asn) c.6710T>A (p.Ile2237Asn) c.11225T>A (p.Ile3742Asn) | |
| 5 | g.13717398T>A | CA359207127 | DNAH5 | c.12622A>T (p.Ile4208Phe) c.12577A>T (p.Ile4193Phe) c.12730A>T (p.Ile4244Phe) c.11635A>T (p.Ile3879Phe) c.7819A>T (p.Ile2607Phe) c.7372A>T (p.Ile2458Phe) c.6709A>T (p.Ile2237Phe) c.11224A>T (p.Ile3742Phe) | COSMIC |
| 5 | g.13717398T>C | CA359207143 | DNAH5 | c.12622A>G (p.Ile4208Val) c.12577A>G (p.Ile4193Val) c.12730A>G (p.Ile4244Val) c.11635A>G (p.Ile3879Val) c.7819A>G (p.Ile2607Val) c.7372A>G (p.Ile2458Val) c.6709A>G (p.Ile2237Val) c.11224A>G (p.Ile3742Val) | dbSNP |
| 5 | g.13717398T>G | CA3201582 | DNAH5 | c.12622A>C (p.Ile4208Leu) c.12577A>C (p.Ile4193Leu) c.12730A>C (p.Ile4244Leu) c.11635A>C (p.Ile3879Leu) c.7819A>C (p.Ile2607Leu) c.7372A>C (p.Ile2458Leu) c.6709A>C (p.Ile2237Leu) c.11224A>C (p.Ile3742Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717398T= | CA1528407030 | DNAH5 | c.12622A= (p.Ile4208=) c.12577A= (p.Ile4193=) c.12730A= (p.Ile4244=) c.11635A= (p.Ile3879=) c.7819A= (p.Ile2607=) c.7372A= (p.Ile2458=) c.6709A= (p.Ile2237=) c.11224A= (p.Ile3742=) | |
| 5 | g.13717399A>C | CA359207161 | DNAH5 | c.12621T>G (p.Asn4207Lys) c.12576T>G (p.Asn4192Lys) c.12729T>G (p.Asn4243Lys) c.11634T>G (p.Asn3878Lys) c.7818T>G (p.Asn2606Lys) c.7371T>G (p.Asn2457Lys) c.6708T>G (p.Asn2236Lys) c.11223T>G (p.Asn3741Lys) | |
| 5 | g.13717399A>G | CA443254620 | DNAH5 | c.12621T>C (p.Asn4207=) c.12576T>C (p.Asn4192=) c.12729T>C (p.Asn4243=) c.11634T>C (p.Asn3878=) c.7818T>C (p.Asn2606=) c.7371T>C (p.Asn2457=) c.6708T>C (p.Asn2236=) c.11223T>C (p.Asn3741=) | |
| 5 | g.13717399A>T | CA359207163 | DNAH5 | c.12621T>A (p.Asn4207Lys) c.12576T>A (p.Asn4192Lys) c.12729T>A (p.Asn4243Lys) c.11634T>A (p.Asn3878Lys) c.7818T>A (p.Asn2606Lys) c.7371T>A (p.Asn2457Lys) c.6708T>A (p.Asn2236Lys) c.11223T>A (p.Asn3741Lys) | |
| 5 | g.13717400T>A | CA359207166 | DNAH5 | c.12620A>T (p.Asn4207Ile) c.12575A>T (p.Asn4192Ile) c.12728A>T (p.Asn4243Ile) c.11633A>T (p.Asn3878Ile) c.7817A>T (p.Asn2606Ile) c.7370A>T (p.Asn2457Ile) c.6707A>T (p.Asn2236Ile) c.11222A>T (p.Asn3741Ile) | |
| 5 | g.13717400T>C | CA359207171 | DNAH5 | c.12620A>G (p.Asn4207Ser) c.12575A>G (p.Asn4192Ser) c.12728A>G (p.Asn4243Ser) c.11633A>G (p.Asn3878Ser) c.7817A>G (p.Asn2606Ser) c.7370A>G (p.Asn2457Ser) c.6707A>G (p.Asn2236Ser) c.11222A>G (p.Asn3741Ser) | |
| 5 | g.13717400T>G | CA359207174 | DNAH5 | c.12620A>C (p.Asn4207Thr) c.12575A>C (p.Asn4192Thr) c.12728A>C (p.Asn4243Thr) c.11633A>C (p.Asn3878Thr) c.7817A>C (p.Asn2606Thr) c.7370A>C (p.Asn2457Thr) c.6707A>C (p.Asn2236Thr) c.11222A>C (p.Asn3741Thr) | |
| 5 | g.13717401T>A | CA359207178 | DNAH5 | c.12619A>T (p.Asn4207Tyr) c.12574A>T (p.Asn4192Tyr) c.12727A>T (p.Asn4243Tyr) c.11632A>T (p.Asn3878Tyr) c.7816A>T (p.Asn2606Tyr) c.7369A>T (p.Asn2457Tyr) c.6706A>T (p.Asn2236Tyr) c.11221A>T (p.Asn3741Tyr) | |
| 5 | g.13717401T>C | CA359207184 | DNAH5 | c.12619A>G (p.Asn4207Asp) c.12574A>G (p.Asn4192Asp) c.12727A>G (p.Asn4243Asp) c.11632A>G (p.Asn3878Asp) c.7816A>G (p.Asn2606Asp) c.7369A>G (p.Asn2457Asp) c.6706A>G (p.Asn2236Asp) c.11221A>G (p.Asn3741Asp) | |
| 5 | g.13717401T>G | CA359207188 | DNAH5 | c.12619A>C (p.Asn4207His) c.12574A>C (p.Asn4192His) c.12727A>C (p.Asn4243His) c.11632A>C (p.Asn3878His) c.7816A>C (p.Asn2606His) c.7369A>C (p.Asn2457His) c.6706A>C (p.Asn2236His) c.11221A>C (p.Asn3741His) | |
| 5 | g.13717402C>A | CA359207195 | DNAH5 | c.12618G>T (p.Trp4206Cys) c.12573G>T (p.Trp4191Cys) c.12726G>T (p.Trp4242Cys) c.11631G>T (p.Trp3877Cys) c.7815G>T (p.Trp2605Cys) c.7368G>T (p.Trp2456Cys) c.6705G>T (p.Trp2235Cys) c.11220G>T (p.Trp3740Cys) | dbSNP |
| 5 | g.13717402C>G | CA359207209 | DNAH5 | c.12618G>C (p.Trp4206Cys) c.12573G>C (p.Trp4191Cys) c.12726G>C (p.Trp4242Cys) c.11631G>C (p.Trp3877Cys) c.7815G>C (p.Trp2605Cys) c.7368G>C (p.Trp2456Cys) c.6705G>C (p.Trp2235Cys) c.11220G>C (p.Trp3740Cys) | |
| 5 | g.13717402C>T | CA359207201 | DNAH5 | c.12618G>A (p.Trp4206Ter) c.12573G>A (p.Trp4191Ter) c.12726G>A (p.Trp4242Ter) c.11631G>A (p.Trp3877Ter) c.7815G>A (p.Trp2605Ter) c.7368G>A (p.Trp2456Ter) c.6705G>A (p.Trp2235Ter) c.11220G>A (p.Trp3740Ter) | |
| 5 | g.13717403C>A | CA359207211 | DNAH5 | c.12617G>T (p.Trp4206Leu) c.12572G>T (p.Trp4191Leu) c.12725G>T (p.Trp4242Leu) c.11630G>T (p.Trp3877Leu) c.7814G>T (p.Trp2605Leu) c.7367G>T (p.Trp2456Leu) c.6704G>T (p.Trp2235Leu) c.11219G>T (p.Trp3740Leu) | COSMIC |
| 5 | g.13717403C= | CA1528407031 | DNAH5 | c.12617G= (p.Trp4206=) c.12572G= (p.Trp4191=) c.12725G= (p.Trp4242=) c.11630G= (p.Trp3877=) c.7814G= (p.Trp2605=) c.7367G= (p.Trp2456=) c.6704G= (p.Trp2235=) c.11219G= (p.Trp3740=) | |
| 5 | g.13717403C>G | CA359207213 | DNAH5 | c.12617G>C (p.Trp4206Ser) c.12572G>C (p.Trp4191Ser) c.12725G>C (p.Trp4242Ser) c.11630G>C (p.Trp3877Ser) c.7814G>C (p.Trp2605Ser) c.7367G>C (p.Trp2456Ser) c.6704G>C (p.Trp2235Ser) c.11219G>C (p.Trp3740Ser) | |
| 5 | g.13717403C>T | CA3201583 | DNAH5 | c.12617G>A (p.Trp4206Ter) c.12572G>A (p.Trp4191Ter) c.12725G>A (p.Trp4242Ter) c.11630G>A (p.Trp3877Ter) c.7814G>A (p.Trp2605Ter) c.7367G>A (p.Trp2456Ter) c.6704G>A (p.Trp2235Ter) c.11219G>A (p.Trp3740Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717404A>C | CA359207225 | DNAH5 | c.12616T>G (p.Trp4206Gly) c.12571T>G (p.Trp4191Gly) c.12724T>G (p.Trp4242Gly) c.11629T>G (p.Trp3877Gly) c.7813T>G (p.Trp2605Gly) c.7366T>G (p.Trp2456Gly) c.6703T>G (p.Trp2235Gly) c.11218T>G (p.Trp3740Gly) | |
| 5 | g.13717404A>G | CA359207228 | DNAH5 | c.12616T>C (p.Trp4206Arg) c.12571T>C (p.Trp4191Arg) c.12724T>C (p.Trp4242Arg) c.11629T>C (p.Trp3877Arg) c.7813T>C (p.Trp2605Arg) c.7366T>C (p.Trp2456Arg) c.6703T>C (p.Trp2235Arg) c.11218T>C (p.Trp3740Arg) | |
| 5 | g.13717404A>T | CA359207233 | DNAH5 | c.12616T>A (p.Trp4206Arg) c.12571T>A (p.Trp4191Arg) c.12724T>A (p.Trp4242Arg) c.11629T>A (p.Trp3877Arg) c.7813T>A (p.Trp2605Arg) c.7366T>A (p.Trp2456Arg) c.6703T>A (p.Trp2235Arg) c.11218T>A (p.Trp3740Arg) | |
| 5 | g.13717405C>A | CA443254634 | DNAH5 | c.12615G>T (p.Gly4205=) c.12570G>T (p.Gly4190=) c.12723G>T (p.Gly4241=) c.11628G>T (p.Gly3876=) c.7812G>T (p.Gly2604=) c.7365G>T (p.Gly2455=) c.6702G>T (p.Gly2234=) c.11217G>T (p.Gly3739=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13717405C= | CA1528407032 | DNAH5 | c.12615G= (p.Gly4205=) c.12570G= (p.Gly4190=) c.12723G= (p.Gly4241=) c.11628G= (p.Gly3876=) c.7812G= (p.Gly2604=) c.7365G= (p.Gly2455=) c.6702G= (p.Gly2234=) c.11217G= (p.Gly3739=) | |
| 5 | g.13717405C>G | CA443254637 | DNAH5 | c.12615G>C (p.Gly4205=) c.12570G>C (p.Gly4190=) c.12723G>C (p.Gly4241=) c.11628G>C (p.Gly3876=) c.7812G>C (p.Gly2604=) c.7365G>C (p.Gly2455=) c.6702G>C (p.Gly2234=) c.11217G>C (p.Gly3739=) | |
| 5 | g.13717405C>T | CA3201584 | DNAH5 | c.12615G>A (p.Gly4205=) c.12570G>A (p.Gly4190=) c.12723G>A (p.Gly4241=) c.11628G>A (p.Gly3876=) c.7812G>A (p.Gly2604=) c.7365G>A (p.Gly2455=) c.6702G>A (p.Gly2234=) c.11217G>A (p.Gly3739=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717406C>A | CA113919224 | DNAH5 | c.12614G>T (p.Gly4205Val) c.12569G>T (p.Gly4190Val) c.12722G>T (p.Gly4241Val) c.11627G>T (p.Gly3876Val) c.7811G>T (p.Gly2604Val) c.7364G>T (p.Gly2455Val) c.6701G>T (p.Gly2234Val) c.11216G>T (p.Gly3739Val) | ClinVar dbSNP |
| 5 | g.13717406C= | CA1528407033 | DNAH5 | c.12614G= (p.Gly4205=) c.12569G= (p.Gly4190=) c.12722G= (p.Gly4241=) c.11627G= (p.Gly3876=) c.7811G= (p.Gly2604=) c.7364G= (p.Gly2455=) c.6701G= (p.Gly2234=) c.11216G= (p.Gly3739=) | |
| 5 | g.13717406C>G | CA359207250 | DNAH5 | c.12614G>C (p.Gly4205Ala) c.12569G>C (p.Gly4190Ala) c.12722G>C (p.Gly4241Ala) c.11627G>C (p.Gly3876Ala) c.7811G>C (p.Gly2604Ala) c.7364G>C (p.Gly2455Ala) c.6701G>C (p.Gly2234Ala) c.11216G>C (p.Gly3739Ala) | |
| 5 | g.13717406C>T | CA359207255 | DNAH5 | c.12614G>A (p.Gly4205Glu) c.12569G>A (p.Gly4190Glu) c.12722G>A (p.Gly4241Glu) c.11627G>A (p.Gly3876Glu) c.7811G>A (p.Gly2604Glu) c.7364G>A (p.Gly2455Glu) c.6701G>A (p.Gly2234Glu) c.11216G>A (p.Gly3739Glu) | |
| 5 | g.13717407C>A | CA359207276 | DNAH5 | c.12613G>T (p.Gly4205Trp) c.12568G>T (p.Gly4190Trp) c.12721G>T (p.Gly4241Trp) c.11626G>T (p.Gly3876Trp) c.7810G>T (p.Gly2604Trp) c.7363G>T (p.Gly2455Trp) c.6700G>T (p.Gly2234Trp) c.11215G>T (p.Gly3739Trp) | |
| 5 | g.13717407C>G | CA359207277 | DNAH5 | c.12613G>C (p.Gly4205Arg) c.12568G>C (p.Gly4190Arg) c.12721G>C (p.Gly4241Arg) c.11626G>C (p.Gly3876Arg) c.7810G>C (p.Gly2604Arg) c.7363G>C (p.Gly2455Arg) c.6700G>C (p.Gly2234Arg) c.11215G>C (p.Gly3739Arg) | |
| 5 | g.13717407C>T | CA359207260 | DNAH5 | c.12613G>A (p.Gly4205Arg) c.12568G>A (p.Gly4190Arg) c.12721G>A (p.Gly4241Arg) c.11626G>A (p.Gly3876Arg) c.7810G>A (p.Gly2604Arg) c.7363G>A (p.Gly2455Arg) c.6700G>A (p.Gly2234Arg) c.11215G>A (p.Gly3739Arg) | |
| 5 | g.13717408C>A | CA443254645 | DNAH5 | c.12612G>T (p.Leu4204=) c.12567G>T (p.Leu4189=) c.12720G>T (p.Leu4240=) c.11625G>T (p.Leu3875=) c.7809G>T (p.Leu2603=) c.7362G>T (p.Leu2454=) c.6699G>T (p.Leu2233=) c.11214G>T (p.Leu3738=) | |
| 5 | g.13717408C>G | CA443254647 | DNAH5 | c.12612G>C (p.Leu4204=) c.12567G>C (p.Leu4189=) c.12720G>C (p.Leu4240=) c.11625G>C (p.Leu3875=) c.7809G>C (p.Leu2603=) c.7362G>C (p.Leu2454=) c.6699G>C (p.Leu2233=) c.11214G>C (p.Leu3738=) | |
| 5 | g.13717408C>T | CA443254651 | DNAH5 | c.12612G>A (p.Leu4204=) c.12567G>A (p.Leu4189=) c.12720G>A (p.Leu4240=) c.11625G>A (p.Leu3875=) c.7809G>A (p.Leu2603=) c.7362G>A (p.Leu2454=) c.6699G>A (p.Leu2233=) c.11214G>A (p.Leu3738=) | |
| 5 | g.13717409A>C | CA359207280 | DNAH5 | c.12611T>G (p.Leu4204Arg) c.12566T>G (p.Leu4189Arg) c.12719T>G (p.Leu4240Arg) c.11624T>G (p.Leu3875Arg) c.7808T>G (p.Leu2603Arg) c.7361T>G (p.Leu2454Arg) c.6698T>G (p.Leu2233Arg) c.11213T>G (p.Leu3738Arg) | |
| 5 | g.13717409A>G | CA359207281 | DNAH5 | c.12611T>C (p.Leu4204Pro) c.12566T>C (p.Leu4189Pro) c.12719T>C (p.Leu4240Pro) c.11624T>C (p.Leu3875Pro) c.7808T>C (p.Leu2603Pro) c.7361T>C (p.Leu2454Pro) c.6698T>C (p.Leu2233Pro) c.11213T>C (p.Leu3738Pro) | |
| 5 | g.13717409A>T | CA359207288 | DNAH5 | c.12611T>A (p.Leu4204Gln) c.12566T>A (p.Leu4189Gln) c.12719T>A (p.Leu4240Gln) c.11624T>A (p.Leu3875Gln) c.7808T>A (p.Leu2603Gln) c.7361T>A (p.Leu2454Gln) c.6698T>A (p.Leu2233Gln) c.11213T>A (p.Leu3738Gln) |