Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13770815_13770816delinsAG | CA2580072361 | DNAH5 | c.9538_9539delinsCT (p.Ser3180Leu) c.9493_9494delinsCT (p.Ser3165Leu) n.250_251delinsCT c.9646_9647delinsCT (p.Ser3216Leu) c.8551_8552delinsCT (p.Ser2851Leu) c.4735_4736delinsCT (p.Ser1579Leu) c.4288_4289delinsCT (p.Ser1430Leu) c.3625_3626delinsCT (p.Ser1209Leu) c.8140_8141delinsCT (p.Ser2714Leu) | ClinVar |
5 | g.13770816A= | CA1528431196 | DNAH5 | c.9538T= (p.Ser3180=) c.9493T= (p.Ser3165=) n.250T= c.9646T= (p.Ser3216=) c.8551T= (p.Ser2851=) c.4735T= (p.Ser1579=) c.4288T= (p.Ser1430=) c.3625T= (p.Ser1209=) c.8140T= (p.Ser2714=) | |
5 | g.13770816A>C | CA359204434 | DNAH5 | c.9538T>G (p.Ser3180Ala) c.9493T>G (p.Ser3165Ala) n.250T>G c.9646T>G (p.Ser3216Ala) c.8551T>G (p.Ser2851Ala) c.4735T>G (p.Ser1579Ala) c.4288T>G (p.Ser1430Ala) c.3625T>G (p.Ser1209Ala) c.8140T>G (p.Ser2714Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770816A>G | CA113932891 | DNAH5 | c.9538T>C (p.Ser3180Pro) c.9493T>C (p.Ser3165Pro) n.250T>C c.9646T>C (p.Ser3216Pro) c.8551T>C (p.Ser2851Pro) c.4735T>C (p.Ser1579Pro) c.4288T>C (p.Ser1430Pro) c.3625T>C (p.Ser1209Pro) c.8140T>C (p.Ser2714Pro) | dbSNP gnomAD v4 |
5 | g.13770816A>T | CA359204437 | DNAH5 | c.9538T>A (p.Ser3180Thr) c.9493T>A (p.Ser3165Thr) n.250T>A c.9646T>A (p.Ser3216Thr) c.8551T>A (p.Ser2851Thr) c.4735T>A (p.Ser1579Thr) c.4288T>A (p.Ser1430Thr) c.3625T>A (p.Ser1209Thr) c.8140T>A (p.Ser2714Thr) | |
5 | g.13770817G>A | CA443535552 | DNAH5 | c.9537C>T (p.Leu3179=) c.9492C>T (p.Leu3164=) n.249C>T c.9645C>T (p.Leu3215=) c.8550C>T (p.Leu2850=) c.4734C>T (p.Leu1578=) c.4287C>T (p.Leu1429=) c.3624C>T (p.Leu1208=) c.8139C>T (p.Leu2713=) | |
5 | g.13770817G>C | CA443535553 | DNAH5 | c.9537C>G (p.Leu3179=) c.9492C>G (p.Leu3164=) n.249C>G c.9645C>G (p.Leu3215=) c.8550C>G (p.Leu2850=) c.4734C>G (p.Leu1578=) c.4287C>G (p.Leu1429=) c.3624C>G (p.Leu1208=) c.8139C>G (p.Leu2713=) | |
5 | g.13770817G>T | CA443535554 | DNAH5 | c.9537C>A (p.Leu3179=) c.9492C>A (p.Leu3164=) n.249C>A c.9645C>A (p.Leu3215=) c.8550C>A (p.Leu2850=) c.4734C>A (p.Leu1578=) c.4287C>A (p.Leu1429=) c.3624C>A (p.Leu1208=) c.8139C>A (p.Leu2713=) | |
5 | g.13770818A>C | CA359204441 | DNAH5 | c.9536T>G (p.Leu3179Arg) c.9491T>G (p.Leu3164Arg) n.248T>G c.9644T>G (p.Leu3215Arg) c.8549T>G (p.Leu2850Arg) c.4733T>G (p.Leu1578Arg) c.4286T>G (p.Leu1429Arg) c.3623T>G (p.Leu1208Arg) c.8138T>G (p.Leu2713Arg) | |
5 | g.13770818A>G | CA359204452 | DNAH5 | c.9536T>C (p.Leu3179Pro) c.9491T>C (p.Leu3164Pro) n.248T>C c.9644T>C (p.Leu3215Pro) c.8549T>C (p.Leu2850Pro) c.4733T>C (p.Leu1578Pro) c.4286T>C (p.Leu1429Pro) c.3623T>C (p.Leu1208Pro) c.8138T>C (p.Leu2713Pro) | |
5 | g.13770818A>T | CA359204449 | DNAH5 | c.9536T>A (p.Leu3179His) c.9491T>A (p.Leu3164His) n.248T>A c.9644T>A (p.Leu3215His) c.8549T>A (p.Leu2850His) c.4733T>A (p.Leu1578His) c.4286T>A (p.Leu1429His) c.3623T>A (p.Leu1208His) c.8138T>A (p.Leu2713His) | |
5 | g.13770819G>A | CA359204455 | DNAH5 | c.9535C>T (p.Leu3179Phe) c.9490C>T (p.Leu3164Phe) n.247C>T c.9643C>T (p.Leu3215Phe) c.8548C>T (p.Leu2850Phe) c.4732C>T (p.Leu1578Phe) c.4285C>T (p.Leu1429Phe) c.3622C>T (p.Leu1208Phe) c.8137C>T (p.Leu2713Phe) | dbSNP COSMIC |
5 | g.13770819G>C | CA359204456 | DNAH5 | c.9535C>G (p.Leu3179Val) c.9490C>G (p.Leu3164Val) n.247C>G c.9643C>G (p.Leu3215Val) c.8548C>G (p.Leu2850Val) c.4732C>G (p.Leu1578Val) c.4285C>G (p.Leu1429Val) c.3622C>G (p.Leu1208Val) c.8137C>G (p.Leu2713Val) | gnomAD v4 |
5 | g.13770819G= | CA1528431197 | DNAH5 | c.9535C= (p.Leu3179=) c.9490C= (p.Leu3164=) n.247C= c.9643C= (p.Leu3215=) c.8548C= (p.Leu2850=) c.4732C= (p.Leu1578=) c.4285C= (p.Leu1429=) c.3622C= (p.Leu1208=) c.8137C= (p.Leu2713=) | |
5 | g.13770819G>T | CA359204457 | DNAH5 | c.9535C>A (p.Leu3179Ile) c.9490C>A (p.Leu3164Ile) n.247C>A c.9643C>A (p.Leu3215Ile) c.8548C>A (p.Leu2850Ile) c.4732C>A (p.Leu1578Ile) c.4285C>A (p.Leu1429Ile) c.3622C>A (p.Leu1208Ile) c.8137C>A (p.Leu2713Ile) | |
5 | g.13770820G>A | CA443535558 | DNAH5 | c.9534C>T (p.Tyr3178=) c.9489C>T (p.Tyr3163=) n.246C>T c.9642C>T (p.Tyr3214=) c.8547C>T (p.Tyr2849=) c.4731C>T (p.Tyr1577=) c.4284C>T (p.Tyr1428=) c.3621C>T (p.Tyr1207=) c.8136C>T (p.Tyr2712=) | COSMIC |
5 | g.13770820G>C | CA359204461 | DNAH5 | c.9534C>G (p.Tyr3178Ter) c.9489C>G (p.Tyr3163Ter) n.246C>G c.9642C>G (p.Tyr3214Ter) c.8547C>G (p.Tyr2849Ter) c.4731C>G (p.Tyr1577Ter) c.4284C>G (p.Tyr1428Ter) c.3621C>G (p.Tyr1207Ter) c.8136C>G (p.Tyr2712Ter) | |
5 | g.13770820G= | CA1528431198 | DNAH5 | c.9534C= (p.Tyr3178=) c.9489C= (p.Tyr3163=) n.246C= c.9642C= (p.Tyr3214=) c.8547C= (p.Tyr2849=) c.4731C= (p.Tyr1577=) c.4284C= (p.Tyr1428=) c.3621C= (p.Tyr1207=) c.8136C= (p.Tyr2712=) | |
5 | g.13770820G>T | CA359204463 | DNAH5 | c.9534C>A (p.Tyr3178Ter) c.9489C>A (p.Tyr3163Ter) n.246C>A c.9642C>A (p.Tyr3214Ter) c.8547C>A (p.Tyr2849Ter) c.4731C>A (p.Tyr1577Ter) c.4284C>A (p.Tyr1428Ter) c.3621C>A (p.Tyr1207Ter) c.8136C>A (p.Tyr2712Ter) | ClinVar dbSNP |
5 | g.13770821T>A | CA359204466 | DNAH5 | c.9533A>T (p.Tyr3178Phe) c.9488A>T (p.Tyr3163Phe) n.245A>T c.9641A>T (p.Tyr3214Phe) c.8546A>T (p.Tyr2849Phe) c.4730A>T (p.Tyr1577Phe) c.4283A>T (p.Tyr1428Phe) c.3620A>T (p.Tyr1207Phe) c.8135A>T (p.Tyr2712Phe) | |
5 | g.13770821T>C | CA359204468 | DNAH5 | c.9533A>G (p.Tyr3178Cys) c.9488A>G (p.Tyr3163Cys) n.245A>G c.9641A>G (p.Tyr3214Cys) c.8546A>G (p.Tyr2849Cys) c.4730A>G (p.Tyr1577Cys) c.4283A>G (p.Tyr1428Cys) c.3620A>G (p.Tyr1207Cys) c.8135A>G (p.Tyr2712Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770821T>G | CA359204471 | DNAH5 | c.9533A>C (p.Tyr3178Ser) c.9488A>C (p.Tyr3163Ser) n.245A>C c.9641A>C (p.Tyr3214Ser) c.8546A>C (p.Tyr2849Ser) c.4730A>C (p.Tyr1577Ser) c.4283A>C (p.Tyr1428Ser) c.3620A>C (p.Tyr1207Ser) c.8135A>C (p.Tyr2712Ser) | |
5 | g.13770821T= | CA1528431199 | DNAH5 | c.9533A= (p.Tyr3178=) c.9488A= (p.Tyr3163=) n.245A= c.9641A= (p.Tyr3214=) c.8546A= (p.Tyr2849=) c.4730A= (p.Tyr1577=) c.4283A= (p.Tyr1428=) c.3620A= (p.Tyr1207=) c.8135A= (p.Tyr2712=) | |
5 | g.13770822A>C | CA359204475 | DNAH5 | c.9532T>G (p.Tyr3178Asp) c.9487T>G (p.Tyr3163Asp) n.244T>G c.9640T>G (p.Tyr3214Asp) c.8545T>G (p.Tyr2849Asp) c.4729T>G (p.Tyr1577Asp) c.4282T>G (p.Tyr1428Asp) c.3619T>G (p.Tyr1207Asp) c.8134T>G (p.Tyr2712Asp) | |
5 | g.13770822A>G | CA359204477 | DNAH5 | c.9532T>C (p.Tyr3178His) c.9487T>C (p.Tyr3163His) n.244T>C c.9640T>C (p.Tyr3214His) c.8545T>C (p.Tyr2849His) c.4729T>C (p.Tyr1577His) c.4282T>C (p.Tyr1428His) c.3619T>C (p.Tyr1207His) c.8134T>C (p.Tyr2712His) | gnomAD v4 |
5 | g.13770822A>T | CA359204478 | DNAH5 | c.9532T>A (p.Tyr3178Asn) c.9487T>A (p.Tyr3163Asn) n.244T>A c.9640T>A (p.Tyr3214Asn) c.8545T>A (p.Tyr2849Asn) c.4729T>A (p.Tyr1577Asn) c.4282T>A (p.Tyr1428Asn) c.3619T>A (p.Tyr1207Asn) c.8134T>A (p.Tyr2712Asn) | |
5 | g.13770822dup | CA3202524 | DNAH5 | c.9532dup (p.Tyr3178LeufsTer9) c.9487dup (p.Tyr3163LeufsTer9) n.244dup c.9640dup (p.Tyr3214LeufsTer9) c.8545dup (p.Tyr2849LeufsTer9) c.4729dup (p.Tyr1577LeufsTer9) c.4282dup (p.Tyr1428LeufsTer9) c.3619dup (p.Tyr1207LeufsTer9) c.8134dup (p.Tyr2712LeufsTer9) | dbSNP ExAC gnomAD v2 |
5 | g.13770823T>A | CA443535563 | DNAH5 | c.9531A>T (p.Ser3177=) c.9486A>T (p.Ser3162=) n.243A>T c.9639A>T (p.Ser3213=) c.8544A>T (p.Ser2848=) c.4728A>T (p.Ser1576=) c.4281A>T (p.Ser1427=) c.3618A>T (p.Ser1206=) c.8133A>T (p.Ser2711=) | gnomAD v4 |
5 | g.13770823T>C | CA3202525 | DNAH5 | c.9531A>G (p.Ser3177=) c.9486A>G (p.Ser3162=) n.243A>G c.9639A>G (p.Ser3213=) c.8544A>G (p.Ser2848=) c.4728A>G (p.Ser1576=) c.4281A>G (p.Ser1427=) c.3618A>G (p.Ser1206=) c.8133A>G (p.Ser2711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770823T>G | CA443535564 | DNAH5 | c.9531A>C (p.Ser3177=) c.9486A>C (p.Ser3162=) n.243A>C c.9639A>C (p.Ser3213=) c.8544A>C (p.Ser2848=) c.4728A>C (p.Ser1576=) c.4281A>C (p.Ser1427=) c.3618A>C (p.Ser1206=) c.8133A>C (p.Ser2711=) | |
5 | g.13770823T= | CA1528431200 | DNAH5 | c.9531A= (p.Ser3177=) c.9486A= (p.Ser3162=) n.243A= c.9639A= (p.Ser3213=) c.8544A= (p.Ser2848=) c.4728A= (p.Ser1576=) c.4281A= (p.Ser1427=) c.3618A= (p.Ser1206=) c.8133A= (p.Ser2711=) | |
5 | g.13770824G>A | CA359204485 | DNAH5 | c.9530C>T (p.Ser3177Leu) c.9485C>T (p.Ser3162Leu) n.242C>T c.9638C>T (p.Ser3213Leu) c.8543C>T (p.Ser2848Leu) c.4727C>T (p.Ser1576Leu) c.4280C>T (p.Ser1427Leu) c.3617C>T (p.Ser1206Leu) c.8132C>T (p.Ser2711Leu) | COSMIC |
5 | g.13770824G>C | CA359204481 | DNAH5 | c.9530C>G (p.Ser3177Ter) c.9485C>G (p.Ser3162Ter) n.242C>G c.9638C>G (p.Ser3213Ter) c.8543C>G (p.Ser2848Ter) c.4727C>G (p.Ser1576Ter) c.4280C>G (p.Ser1427Ter) c.3617C>G (p.Ser1206Ter) c.8132C>G (p.Ser2711Ter) | |
5 | g.13770824G>T | CA359204487 | DNAH5 | c.9530C>A (p.Ser3177Ter) c.9485C>A (p.Ser3162Ter) n.242C>A c.9638C>A (p.Ser3213Ter) c.8543C>A (p.Ser2848Ter) c.4727C>A (p.Ser1576Ter) c.4280C>A (p.Ser1427Ter) c.3617C>A (p.Ser1206Ter) c.8132C>A (p.Ser2711Ter) | ClinVar gnomAD v4 |
5 | g.13770825A>C | CA359204491 | DNAH5 | c.9529T>G (p.Ser3177Ala) c.9484T>G (p.Ser3162Ala) n.241T>G c.9637T>G (p.Ser3213Ala) c.8542T>G (p.Ser2848Ala) c.4726T>G (p.Ser1576Ala) c.4279T>G (p.Ser1427Ala) c.3616T>G (p.Ser1206Ala) c.8131T>G (p.Ser2711Ala) | |
5 | g.13770825A>G | CA359204496 | DNAH5 | c.9529T>C (p.Ser3177Pro) c.9484T>C (p.Ser3162Pro) n.241T>C c.9637T>C (p.Ser3213Pro) c.8542T>C (p.Ser2848Pro) c.4726T>C (p.Ser1576Pro) c.4279T>C (p.Ser1427Pro) c.3616T>C (p.Ser1206Pro) c.8131T>C (p.Ser2711Pro) | |
5 | g.13770825A>T | CA359204494 | DNAH5 | c.9529T>A (p.Ser3177Thr) c.9484T>A (p.Ser3162Thr) n.241T>A c.9637T>A (p.Ser3213Thr) c.8542T>A (p.Ser2848Thr) c.4726T>A (p.Ser1576Thr) c.4279T>A (p.Ser1427Thr) c.3616T>A (p.Ser1206Thr) c.8131T>A (p.Ser2711Thr) | |
5 | g.13770826T>A | CA359204498 | DNAH5 | c.9528A>T (p.Lys3176Asn) c.9483A>T (p.Lys3161Asn) n.240A>T c.9636A>T (p.Lys3212Asn) c.8541A>T (p.Lys2847Asn) c.4725A>T (p.Lys1575Asn) c.4278A>T (p.Lys1426Asn) c.3615A>T (p.Lys1205Asn) c.8130A>T (p.Lys2710Asn) | |
5 | g.13770826T>C | CA443535566 | DNAH5 | c.9528A>G (p.Lys3176=) c.9483A>G (p.Lys3161=) n.240A>G c.9636A>G (p.Lys3212=) c.8541A>G (p.Lys2847=) c.4725A>G (p.Lys1575=) c.4278A>G (p.Lys1426=) c.3615A>G (p.Lys1205=) c.8130A>G (p.Lys2710=) | |
5 | g.13770826T>G | CA359204501 | DNAH5 | c.9528A>C (p.Lys3176Asn) c.9483A>C (p.Lys3161Asn) n.240A>C c.9636A>C (p.Lys3212Asn) c.8541A>C (p.Lys2847Asn) c.4725A>C (p.Lys1575Asn) c.4278A>C (p.Lys1426Asn) c.3615A>C (p.Lys1205Asn) c.8130A>C (p.Lys2710Asn) | |
5 | g.13770827T>A | CA359204502 | DNAH5 | c.9527A>T (p.Lys3176Ile) c.9482A>T (p.Lys3161Ile) n.239A>T c.9635A>T (p.Lys3212Ile) c.8540A>T (p.Lys2847Ile) c.4724A>T (p.Lys1575Ile) c.4277A>T (p.Lys1426Ile) c.3614A>T (p.Lys1205Ile) c.8129A>T (p.Lys2710Ile) | |
5 | g.13770827T>C | CA359204505 | DNAH5 | c.9527A>G (p.Lys3176Arg) c.9482A>G (p.Lys3161Arg) n.239A>G c.9635A>G (p.Lys3212Arg) c.8540A>G (p.Lys2847Arg) c.4724A>G (p.Lys1575Arg) c.4277A>G (p.Lys1426Arg) c.3614A>G (p.Lys1205Arg) c.8129A>G (p.Lys2710Arg) | |
5 | g.13770827T>G | CA359204507 | DNAH5 | c.9527A>C (p.Lys3176Thr) c.9482A>C (p.Lys3161Thr) n.239A>C c.9635A>C (p.Lys3212Thr) c.8540A>C (p.Lys2847Thr) c.4724A>C (p.Lys1575Thr) c.4277A>C (p.Lys1426Thr) c.3614A>C (p.Lys1205Thr) c.8129A>C (p.Lys2710Thr) | |
5 | g.13770828T>A | CA359204510 | DNAH5 | c.9526A>T (p.Lys3176Ter) c.9481A>T (p.Lys3161Ter) n.238A>T c.9634A>T (p.Lys3212Ter) c.8539A>T (p.Lys2847Ter) c.4723A>T (p.Lys1575Ter) c.4276A>T (p.Lys1426Ter) c.3613A>T (p.Lys1205Ter) c.8128A>T (p.Lys2710Ter) | |
5 | g.13770828T>C | CA359204512 | DNAH5 | c.9526A>G (p.Lys3176Glu) c.9481A>G (p.Lys3161Glu) n.238A>G c.9634A>G (p.Lys3212Glu) c.8539A>G (p.Lys2847Glu) c.4723A>G (p.Lys1575Glu) c.4276A>G (p.Lys1426Glu) c.3613A>G (p.Lys1205Glu) c.8128A>G (p.Lys2710Glu) | |
5 | g.13770828T>G | CA359204515 | DNAH5 | c.9526A>C (p.Lys3176Gln) c.9481A>C (p.Lys3161Gln) n.238A>C c.9634A>C (p.Lys3212Gln) c.8539A>C (p.Lys2847Gln) c.4723A>C (p.Lys1575Gln) c.4276A>C (p.Lys1426Gln) c.3613A>C (p.Lys1205Gln) c.8128A>C (p.Lys2710Gln) | |
5 | g.13770829G>A | CA113932908 | DNAH5 | c.9525C>T (p.Pro3175=) c.9480C>T (p.Pro3160=) n.237C>T c.9633C>T (p.Pro3211=) c.8538C>T (p.Pro2846=) c.4722C>T (p.Pro1574=) c.4275C>T (p.Pro1425=) c.3612C>T (p.Pro1204=) c.8127C>T (p.Pro2709=) | dbSNP |
5 | g.13770829G>C | CA443535570 | DNAH5 | c.9525C>G (p.Pro3175=) c.9480C>G (p.Pro3160=) n.237C>G c.9633C>G (p.Pro3211=) c.8538C>G (p.Pro2846=) c.4722C>G (p.Pro1574=) c.4275C>G (p.Pro1425=) c.3612C>G (p.Pro1204=) c.8127C>G (p.Pro2709=) | |
5 | g.13770829G= | CA1528431201 | DNAH5 | c.9525C= (p.Pro3175=) c.9480C= (p.Pro3160=) n.237C= c.9633C= (p.Pro3211=) c.8538C= (p.Pro2846=) c.4722C= (p.Pro1574=) c.4275C= (p.Pro1425=) c.3612C= (p.Pro1204=) c.8127C= (p.Pro2709=) | |
5 | g.13770829G>T | CA443535571 | DNAH5 | c.9525C>A (p.Pro3175=) c.9480C>A (p.Pro3160=) n.237C>A c.9633C>A (p.Pro3211=) c.8538C>A (p.Pro2846=) c.4722C>A (p.Pro1574=) c.4275C>A (p.Pro1425=) c.3612C>A (p.Pro1204=) c.8127C>A (p.Pro2709=) | |
5 | g.13770830_13770831dup | CA2765348512 | DNAH5 | c.9524_9525dup (p.Lys3176ProfsTer29) c.9479_9480dup (p.Lys3161ProfsTer29) n.236_237dup c.9632_9633dup (p.Lys3212ProfsTer29) c.8537_8538dup (p.Lys2847ProfsTer29) c.9632_9633dup (p.Lys3212ProfsTer?) c.4721_4722dup (p.Lys1575ProfsTer29) c.4274_4275dup (p.Lys1426ProfsTer29) c.3611_3612dup (p.Lys1205ProfsTer29) c.8126_8127dup (p.Lys2710ProfsTer29) | |
5 | g.13770830G>A | CA359204518 | DNAH5 | c.9524C>T (p.Pro3175Leu) c.9479C>T (p.Pro3160Leu) n.236C>T c.9632C>T (p.Pro3211Leu) c.8537C>T (p.Pro2846Leu) c.4721C>T (p.Pro1574Leu) c.4274C>T (p.Pro1425Leu) c.3611C>T (p.Pro1204Leu) c.8126C>T (p.Pro2709Leu) | |
5 | g.13770830G>C | CA359204521 | DNAH5 | c.9524C>G (p.Pro3175Arg) c.9479C>G (p.Pro3160Arg) n.236C>G c.9632C>G (p.Pro3211Arg) c.8537C>G (p.Pro2846Arg) c.4721C>G (p.Pro1574Arg) c.4274C>G (p.Pro1425Arg) c.3611C>G (p.Pro1204Arg) c.8126C>G (p.Pro2709Arg) | |
5 | g.13770830G>T | CA359204523 | DNAH5 | c.9524C>A (p.Pro3175His) c.9479C>A (p.Pro3160His) n.236C>A c.9632C>A (p.Pro3211His) c.8537C>A (p.Pro2846His) c.4721C>A (p.Pro1574His) c.4274C>A (p.Pro1425His) c.3611C>A (p.Pro1204His) c.8126C>A (p.Pro2709His) | |
5 | g.13770831G>A | CA359204531 | DNAH5 | c.9523C>T (p.Pro3175Ser) c.9478C>T (p.Pro3160Ser) n.235C>T c.9631C>T (p.Pro3211Ser) c.8536C>T (p.Pro2846Ser) c.4720C>T (p.Pro1574Ser) c.4273C>T (p.Pro1425Ser) c.3610C>T (p.Pro1204Ser) c.8125C>T (p.Pro2709Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770831G>C | CA359204525 | DNAH5 | c.9523C>G (p.Pro3175Ala) c.9478C>G (p.Pro3160Ala) n.235C>G c.9631C>G (p.Pro3211Ala) c.8536C>G (p.Pro2846Ala) c.4720C>G (p.Pro1574Ala) c.4273C>G (p.Pro1425Ala) c.3610C>G (p.Pro1204Ala) c.8125C>G (p.Pro2709Ala) | |
5 | g.13770831G= | CA1528431202 | DNAH5 | c.9523C= (p.Pro3175=) c.9478C= (p.Pro3160=) n.235C= c.9631C= (p.Pro3211=) c.8536C= (p.Pro2846=) c.4720C= (p.Pro1574=) c.4273C= (p.Pro1425=) c.3610C= (p.Pro1204=) c.8125C= (p.Pro2709=) | |
5 | g.13770831G>T | CA359204528 | DNAH5 | c.9523C>A (p.Pro3175Thr) c.9478C>A (p.Pro3160Thr) n.235C>A c.9631C>A (p.Pro3211Thr) c.8536C>A (p.Pro2846Thr) c.4720C>A (p.Pro1574Thr) c.4273C>A (p.Pro1425Thr) c.3610C>A (p.Pro1204Thr) c.8125C>A (p.Pro2709Thr) | gnomAD v4 |
5 | g.13770832C>A | CA443535573 | DNAH5 | c.9522G>T (p.Thr3174=) c.9477G>T (p.Thr3159=) n.234G>T c.9630G>T (p.Thr3210=) c.8535G>T (p.Thr2845=) c.4719G>T (p.Thr1573=) c.4272G>T (p.Thr1424=) c.3609G>T (p.Thr1203=) c.8124G>T (p.Thr2708=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770832C= | CA1528431203 | DNAH5 | c.9522G= (p.Thr3174=) c.9477G= (p.Thr3159=) n.234G= c.9630G= (p.Thr3210=) c.8535G= (p.Thr2845=) c.4719G= (p.Thr1573=) c.4272G= (p.Thr1424=) c.3609G= (p.Thr1203=) c.8124G= (p.Thr2708=) | |
5 | g.13770832C>G | CA443535574 | DNAH5 | c.9522G>C (p.Thr3174=) c.9477G>C (p.Thr3159=) n.234G>C c.9630G>C (p.Thr3210=) c.8535G>C (p.Thr2845=) c.4719G>C (p.Thr1573=) c.4272G>C (p.Thr1424=) c.3609G>C (p.Thr1203=) c.8124G>C (p.Thr2708=) | |
5 | g.13770832C>T | CA3202526 | DNAH5 | c.9522G>A (p.Thr3174=) c.9477G>A (p.Thr3159=) n.234G>A c.9630G>A (p.Thr3210=) c.8535G>A (p.Thr2845=) c.4719G>A (p.Thr1573=) c.4272G>A (p.Thr1424=) c.3609G>A (p.Thr1203=) c.8124G>A (p.Thr2708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770833G>A | CA3202527 | DNAH5 | c.9521C>T (p.Thr3174Met) c.9476C>T (p.Thr3159Met) n.233C>T c.9629C>T (p.Thr3210Met) c.8534C>T (p.Thr2845Met) c.4718C>T (p.Thr1573Met) c.4271C>T (p.Thr1424Met) c.3608C>T (p.Thr1203Met) c.8123C>T (p.Thr2708Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770833G>C | CA359204539 | DNAH5 | c.9521C>G (p.Thr3174Arg) c.9476C>G (p.Thr3159Arg) n.233C>G c.9629C>G (p.Thr3210Arg) c.8534C>G (p.Thr2845Arg) c.4718C>G (p.Thr1573Arg) c.4271C>G (p.Thr1424Arg) c.3608C>G (p.Thr1203Arg) c.8123C>G (p.Thr2708Arg) | |
5 | g.13770833G= | CA1528431204 | DNAH5 | c.9521C= (p.Thr3174=) c.9476C= (p.Thr3159=) n.233C= c.9629C= (p.Thr3210=) c.8534C= (p.Thr2845=) c.4718C= (p.Thr1573=) c.4271C= (p.Thr1424=) c.3608C= (p.Thr1203=) c.8123C= (p.Thr2708=) | |
5 | g.13770833G>T | CA359204541 | DNAH5 | c.9521C>A (p.Thr3174Lys) c.9476C>A (p.Thr3159Lys) n.233C>A c.9629C>A (p.Thr3210Lys) c.8534C>A (p.Thr2845Lys) c.4718C>A (p.Thr1573Lys) c.4271C>A (p.Thr1424Lys) c.3608C>A (p.Thr1203Lys) c.8123C>A (p.Thr2708Lys) | |
5 | g.13770834T>A | CA359204543 | DNAH5 | c.9520A>T (p.Thr3174Ser) c.9475A>T (p.Thr3159Ser) n.232A>T c.9628A>T (p.Thr3210Ser) c.8533A>T (p.Thr2845Ser) c.4717A>T (p.Thr1573Ser) c.4270A>T (p.Thr1424Ser) c.3607A>T (p.Thr1203Ser) c.8122A>T (p.Thr2708Ser) | |
5 | g.13770834T>C | CA359204544 | DNAH5 | c.9520A>G (p.Thr3174Ala) c.9475A>G (p.Thr3159Ala) n.232A>G c.9628A>G (p.Thr3210Ala) c.8533A>G (p.Thr2845Ala) c.4717A>G (p.Thr1573Ala) c.4270A>G (p.Thr1424Ala) c.3607A>G (p.Thr1203Ala) c.8122A>G (p.Thr2708Ala) | |
5 | g.13770834T>G | CA359204546 | DNAH5 | c.9520A>C (p.Thr3174Pro) c.9475A>C (p.Thr3159Pro) n.232A>C c.9628A>C (p.Thr3210Pro) c.8533A>C (p.Thr2845Pro) c.4717A>C (p.Thr1573Pro) c.4270A>C (p.Thr1424Pro) c.3607A>C (p.Thr1203Pro) c.8122A>C (p.Thr2708Pro) | |
5 | g.13770835del | CA2673268302 | DNAH5 | c.9519del (p.Thr3174ArgfsTer?) c.9474del (p.Thr3159ArgfsTer?) n.231del c.9627del (p.Thr3210ArgfsTer?) c.8532del (p.Thr2845ArgfsTer?) c.4716del (p.Thr1573ArgfsTer?) c.4269del (p.Thr1424ArgfsTer?) c.3606del (p.Thr1203ArgfsTer?) c.8121del (p.Thr2708ArgfsTer?) | gnomAD v4 |
5 | g.13770835C>A | CA443535575 | DNAH5 | c.9519G>T (p.Val3173=) c.9474G>T (p.Val3158=) n.231G>T c.9627G>T (p.Val3209=) c.8532G>T (p.Val2844=) c.4716G>T (p.Val1572=) c.4269G>T (p.Val1423=) c.3606G>T (p.Val1202=) c.8121G>T (p.Val2707=) | |
5 | g.13770835C>G | CA443535576 | DNAH5 | c.9519G>C (p.Val3173=) c.9474G>C (p.Val3158=) n.231G>C c.9627G>C (p.Val3209=) c.8532G>C (p.Val2844=) c.4716G>C (p.Val1572=) c.4269G>C (p.Val1423=) c.3606G>C (p.Val1202=) c.8121G>C (p.Val2707=) | |
5 | g.13770835C>T | CA443535577 | DNAH5 | c.9519G>A (p.Val3173=) c.9474G>A (p.Val3158=) n.231G>A c.9627G>A (p.Val3209=) c.8532G>A (p.Val2844=) c.4716G>A (p.Val1572=) c.4269G>A (p.Val1423=) c.3606G>A (p.Val1202=) c.8121G>A (p.Val2707=) | gnomAD v4 |
5 | g.13770836A>C | CA359204549 | DNAH5 | c.9518T>G (p.Val3173Gly) c.9473T>G (p.Val3158Gly) n.230T>G c.9626T>G (p.Val3209Gly) c.8531T>G (p.Val2844Gly) c.4715T>G (p.Val1572Gly) c.4268T>G (p.Val1423Gly) c.3605T>G (p.Val1202Gly) c.8120T>G (p.Val2707Gly) | |
5 | g.13770836A>G | CA359204551 | DNAH5 | c.9518T>C (p.Val3173Ala) c.9473T>C (p.Val3158Ala) n.230T>C c.9626T>C (p.Val3209Ala) c.8531T>C (p.Val2844Ala) c.4715T>C (p.Val1572Ala) c.4268T>C (p.Val1423Ala) c.3605T>C (p.Val1202Ala) c.8120T>C (p.Val2707Ala) | |
5 | g.13770836A>T | CA359204554 | DNAH5 | c.9518T>A (p.Val3173Glu) c.9473T>A (p.Val3158Glu) n.230T>A c.9626T>A (p.Val3209Glu) c.8531T>A (p.Val2844Glu) c.4715T>A (p.Val1572Glu) c.4268T>A (p.Val1423Glu) c.3605T>A (p.Val1202Glu) c.8120T>A (p.Val2707Glu) | gnomAD v4 |
5 | g.13770837C>A | CA113932931 | DNAH5 | c.9517G>T (p.Val3173Leu) c.9472G>T (p.Val3158Leu) n.229G>T c.9625G>T (p.Val3209Leu) c.8530G>T (p.Val2844Leu) c.4714G>T (p.Val1572Leu) c.4267G>T (p.Val1423Leu) c.3604G>T (p.Val1202Leu) c.8119G>T (p.Val2707Leu) | dbSNP gnomAD v4 |
5 | g.13770837C= | CA1528431205 | DNAH5 | c.9517G= (p.Val3173=) c.9472G= (p.Val3158=) n.229G= c.9625G= (p.Val3209=) c.8530G= (p.Val2844=) c.4714G= (p.Val1572=) c.4267G= (p.Val1423=) c.3604G= (p.Val1202=) c.8119G= (p.Val2707=) | |
5 | g.13770837C>G | CA359204560 | DNAH5 | c.9517G>C (p.Val3173Leu) c.9472G>C (p.Val3158Leu) n.229G>C c.9625G>C (p.Val3209Leu) c.8530G>C (p.Val2844Leu) c.4714G>C (p.Val1572Leu) c.4267G>C (p.Val1423Leu) c.3604G>C (p.Val1202Leu) c.8119G>C (p.Val2707Leu) | |
5 | g.13770837C>T | CA3202528 | DNAH5 | c.9517G>A (p.Val3173Met) c.9472G>A (p.Val3158Met) n.229G>A c.9625G>A (p.Val3209Met) c.8530G>A (p.Val2844Met) c.4714G>A (p.Val1572Met) c.4267G>A (p.Val1423Met) c.3604G>A (p.Val1202Met) c.8119G>A (p.Val2707Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770838G>A | CA443535579 | DNAH5 | c.9516C>T (p.His3172=) c.9471C>T (p.His3157=) n.228C>T c.9624C>T (p.His3208=) c.8529C>T (p.His2843=) c.4713C>T (p.His1571=) c.4266C>T (p.His1422=) c.3603C>T (p.His1201=) c.8118C>T (p.His2706=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770838G>C | CA359204562 | DNAH5 | c.9516C>G (p.His3172Gln) c.9471C>G (p.His3157Gln) n.228C>G c.9624C>G (p.His3208Gln) c.8529C>G (p.His2843Gln) c.4713C>G (p.His1571Gln) c.4266C>G (p.His1422Gln) c.3603C>G (p.His1201Gln) c.8118C>G (p.His2706Gln) | |
5 | g.13770838G= | CA1528431206 | DNAH5 | c.9516C= (p.His3172=) c.9471C= (p.His3157=) n.228C= c.9624C= (p.His3208=) c.8529C= (p.His2843=) c.4713C= (p.His1571=) c.4266C= (p.His1422=) c.3603C= (p.His1201=) c.8118C= (p.His2706=) | |
5 | g.13770838G>T | CA359204565 | DNAH5 | c.9516C>A (p.His3172Gln) c.9471C>A (p.His3157Gln) n.228C>A c.9624C>A (p.His3208Gln) c.8529C>A (p.His2843Gln) c.4713C>A (p.His1571Gln) c.4266C>A (p.His1422Gln) c.3603C>A (p.His1201Gln) c.8118C>A (p.His2706Gln) | |
5 | g.13770839T>A | CA359204568 | DNAH5 | c.9515A>T (p.His3172Leu) c.9470A>T (p.His3157Leu) n.227A>T c.9623A>T (p.His3208Leu) c.8528A>T (p.His2843Leu) c.4712A>T (p.His1571Leu) c.4265A>T (p.His1422Leu) c.3602A>T (p.His1201Leu) c.8117A>T (p.His2706Leu) | |
5 | g.13770839T>C | CA359204570 | DNAH5 | c.9515A>G (p.His3172Arg) c.9470A>G (p.His3157Arg) n.227A>G c.9623A>G (p.His3208Arg) c.8528A>G (p.His2843Arg) c.4712A>G (p.His1571Arg) c.4265A>G (p.His1422Arg) c.3602A>G (p.His1201Arg) c.8117A>G (p.His2706Arg) | |
5 | g.13770839T>G | CA3202529 | DNAH5 | c.9515A>C (p.His3172Pro) c.9470A>C (p.His3157Pro) n.227A>C c.9623A>C (p.His3208Pro) c.8528A>C (p.His2843Pro) c.4712A>C (p.His1571Pro) c.4265A>C (p.His1422Pro) c.3602A>C (p.His1201Pro) c.8117A>C (p.His2706Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770839T= | CA1528431207 | DNAH5 | c.9515A= (p.His3172=) c.9470A= (p.His3157=) n.227A= c.9623A= (p.His3208=) c.8528A= (p.His2843=) c.4712A= (p.His1571=) c.4265A= (p.His1422=) c.3602A= (p.His1201=) c.8117A= (p.His2706=) | |
5 | g.13770840G>A | CA359204578 | DNAH5 | c.9514C>T (p.His3172Tyr) c.9469C>T (p.His3157Tyr) n.226C>T c.9622C>T (p.His3208Tyr) c.8527C>T (p.His2843Tyr) c.4711C>T (p.His1571Tyr) c.4264C>T (p.His1422Tyr) c.3601C>T (p.His1201Tyr) c.8116C>T (p.His2706Tyr) | |
5 | g.13770840G>C | CA3202530 | DNAH5 | c.9514C>G (p.His3172Asp) c.9469C>G (p.His3157Asp) n.226C>G c.9622C>G (p.His3208Asp) c.8527C>G (p.His2843Asp) c.4711C>G (p.His1571Asp) c.4264C>G (p.His1422Asp) c.3601C>G (p.His1201Asp) c.8116C>G (p.His2706Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770840G= | CA1528431208 | DNAH5 | c.9514C= (p.His3172=) c.9469C= (p.His3157=) n.226C= c.9622C= (p.His3208=) c.8527C= (p.His2843=) c.4711C= (p.His1571=) c.4264C= (p.His1422=) c.3601C= (p.His1201=) c.8116C= (p.His2706=) | |
5 | g.13770840G>T | CA359204574 | DNAH5 | c.9514C>A (p.His3172Asn) c.9469C>A (p.His3157Asn) n.226C>A c.9622C>A (p.His3208Asn) c.8527C>A (p.His2843Asn) c.4711C>A (p.His1571Asn) c.4264C>A (p.His1422Asn) c.3601C>A (p.His1201Asn) c.8116C>A (p.His2706Asn) | |
5 | g.13770842dup | CA557876482 | DNAH5 | c.9514dup (p.His3172ProfsTer15) c.9469dup (p.His3157ProfsTer15) n.226dup c.9622dup (p.His3208ProfsTer15) c.8527dup (p.His2843ProfsTer15) c.4711dup (p.His1571ProfsTer15) c.4264dup (p.His1422ProfsTer15) c.3601dup (p.His1201ProfsTer15) c.8116dup (p.His2706ProfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770841G>A | CA443535581 | DNAH5 | c.9513C>T (p.Thr3171=) c.9468C>T (p.Thr3156=) n.225C>T c.9621C>T (p.Thr3207=) c.8526C>T (p.Thr2842=) c.4710C>T (p.Thr1570=) c.4263C>T (p.Thr1421=) c.3600C>T (p.Thr1200=) c.8115C>T (p.Thr2705=) | |
5 | g.13770841G>C | CA443535583 | DNAH5 | c.9513C>G (p.Thr3171=) c.9468C>G (p.Thr3156=) n.225C>G c.9621C>G (p.Thr3207=) c.8526C>G (p.Thr2842=) c.4710C>G (p.Thr1570=) c.4263C>G (p.Thr1421=) c.3600C>G (p.Thr1200=) c.8115C>G (p.Thr2705=) | |
5 | g.13770841G>T | CA443535582 | DNAH5 | c.9513C>A (p.Thr3171=) c.9468C>A (p.Thr3156=) n.225C>A c.9621C>A (p.Thr3207=) c.8526C>A (p.Thr2842=) c.4710C>A (p.Thr1570=) c.4263C>A (p.Thr1421=) c.3600C>A (p.Thr1200=) c.8115C>A (p.Thr2705=) | |
5 | g.13770842G>A | CA359204580 | DNAH5 | c.9512C>T (p.Thr3171Ile) c.9467C>T (p.Thr3156Ile) n.224C>T c.9620C>T (p.Thr3207Ile) c.8525C>T (p.Thr2842Ile) c.4709C>T (p.Thr1570Ile) c.4262C>T (p.Thr1421Ile) c.3599C>T (p.Thr1200Ile) c.8114C>T (p.Thr2705Ile) | gnomAD v4 |
5 | g.13770842G>C | CA359204582 | DNAH5 | c.9512C>G (p.Thr3171Ser) c.9467C>G (p.Thr3156Ser) n.224C>G c.9620C>G (p.Thr3207Ser) c.8525C>G (p.Thr2842Ser) c.4709C>G (p.Thr1570Ser) c.4262C>G (p.Thr1421Ser) c.3599C>G (p.Thr1200Ser) c.8114C>G (p.Thr2705Ser) | |
5 | g.13770842G>T | CA359204583 | DNAH5 | c.9512C>A (p.Thr3171Asn) c.9467C>A (p.Thr3156Asn) n.224C>A c.9620C>A (p.Thr3207Asn) c.8525C>A (p.Thr2842Asn) c.4709C>A (p.Thr1570Asn) c.4262C>A (p.Thr1421Asn) c.3599C>A (p.Thr1200Asn) c.8114C>A (p.Thr2705Asn) | |
5 | g.13770843T>A | CA3202531 | DNAH5 | c.9511A>T (p.Thr3171Ser) c.9466A>T (p.Thr3156Ser) n.223A>T c.9619A>T (p.Thr3207Ser) c.8524A>T (p.Thr2842Ser) c.4708A>T (p.Thr1570Ser) c.4261A>T (p.Thr1421Ser) c.3598A>T (p.Thr1200Ser) c.8113A>T (p.Thr2705Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770843T>C | CA3202532 | DNAH5 | c.9511A>G (p.Thr3171Ala) c.9466A>G (p.Thr3156Ala) n.223A>G c.9619A>G (p.Thr3207Ala) c.8524A>G (p.Thr2842Ala) c.4708A>G (p.Thr1570Ala) c.4261A>G (p.Thr1421Ala) c.3598A>G (p.Thr1200Ala) c.8113A>G (p.Thr2705Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770843T>G | CA359204589 | DNAH5 | c.9511A>C (p.Thr3171Pro) c.9466A>C (p.Thr3156Pro) n.223A>C c.9619A>C (p.Thr3207Pro) c.8524A>C (p.Thr2842Pro) c.4708A>C (p.Thr1570Pro) c.4261A>C (p.Thr1421Pro) c.3598A>C (p.Thr1200Pro) c.8113A>C (p.Thr2705Pro) | ClinVar dbSNP |
5 | g.13770843T= | CA1528431209 | DNAH5 | c.9511A= (p.Thr3171=) c.9466A= (p.Thr3156=) n.223A= c.9619A= (p.Thr3207=) c.8524A= (p.Thr2842=) c.4708A= (p.Thr1570=) c.4261A= (p.Thr1421=) c.3598A= (p.Thr1200=) c.8113A= (p.Thr2705=) | |
5 | g.13770844A>C | CA443535584 | DNAH5 | c.9510T>G (p.Ser3170=) c.9465T>G (p.Ser3155=) n.222T>G c.9618T>G (p.Ser3206=) c.8523T>G (p.Ser2841=) c.4707T>G (p.Ser1569=) c.4260T>G (p.Ser1420=) c.3597T>G (p.Ser1199=) c.8112T>G (p.Ser2704=) | |
5 | g.13770844A>G | CA443535585 | DNAH5 | c.9510T>C (p.Ser3170=) c.9465T>C (p.Ser3155=) n.222T>C c.9618T>C (p.Ser3206=) c.8523T>C (p.Ser2841=) c.4707T>C (p.Ser1569=) c.4260T>C (p.Ser1420=) c.3597T>C (p.Ser1199=) c.8112T>C (p.Ser2704=) | |
5 | g.13770844A>T | CA443535586 | DNAH5 | c.9510T>A (p.Ser3170=) c.9465T>A (p.Ser3155=) n.222T>A c.9618T>A (p.Ser3206=) c.8523T>A (p.Ser2841=) c.4707T>A (p.Ser1569=) c.4260T>A (p.Ser1420=) c.3597T>A (p.Ser1199=) c.8112T>A (p.Ser2704=) | |
5 | g.13770845G>A | CA359204592 | DNAH5 | c.9509C>T (p.Ser3170Phe) c.9464C>T (p.Ser3155Phe) n.221C>T c.9617C>T (p.Ser3206Phe) c.8522C>T (p.Ser2841Phe) c.4706C>T (p.Ser1569Phe) c.4259C>T (p.Ser1420Phe) c.3596C>T (p.Ser1199Phe) c.8111C>T (p.Ser2704Phe) | |
5 | g.13770845G>C | CA359204596 | DNAH5 | c.9509C>G (p.Ser3170Cys) c.9464C>G (p.Ser3155Cys) n.221C>G c.9617C>G (p.Ser3206Cys) c.8522C>G (p.Ser2841Cys) c.4706C>G (p.Ser1569Cys) c.4259C>G (p.Ser1420Cys) c.3596C>G (p.Ser1199Cys) c.8111C>G (p.Ser2704Cys) | |
5 | g.13770845G>T | CA359204594 | DNAH5 | c.9509C>A (p.Ser3170Tyr) c.9464C>A (p.Ser3155Tyr) n.221C>A c.9617C>A (p.Ser3206Tyr) c.8522C>A (p.Ser2841Tyr) c.4706C>A (p.Ser1569Tyr) c.4259C>A (p.Ser1420Tyr) c.3596C>A (p.Ser1199Tyr) c.8111C>A (p.Ser2704Tyr) | |
5 | g.13770846A>C | CA359204597 | DNAH5 | c.9508T>G (p.Ser3170Ala) c.9463T>G (p.Ser3155Ala) n.220T>G c.9616T>G (p.Ser3206Ala) c.8521T>G (p.Ser2841Ala) c.4705T>G (p.Ser1569Ala) c.4258T>G (p.Ser1420Ala) c.3595T>G (p.Ser1199Ala) c.8110T>G (p.Ser2704Ala) | |
5 | g.13770846A>G | CA359204600 | DNAH5 | c.9508T>C (p.Ser3170Pro) c.9463T>C (p.Ser3155Pro) n.220T>C c.9616T>C (p.Ser3206Pro) c.8521T>C (p.Ser2841Pro) c.4705T>C (p.Ser1569Pro) c.4258T>C (p.Ser1420Pro) c.3595T>C (p.Ser1199Pro) c.8110T>C (p.Ser2704Pro) | |
5 | g.13770846A>T | CA359204602 | DNAH5 | c.9508T>A (p.Ser3170Thr) c.9463T>A (p.Ser3155Thr) n.220T>A c.9616T>A (p.Ser3206Thr) c.8521T>A (p.Ser2841Thr) c.4705T>A (p.Ser1569Thr) c.4258T>A (p.Ser1420Thr) c.3595T>A (p.Ser1199Thr) c.8110T>A (p.Ser2704Thr) | |
5 | g.13770847A>C | CA443535589 | DNAH5 | c.9507T>G (p.Arg3169=) c.9462T>G (p.Arg3154=) n.219T>G c.9615T>G (p.Arg3205=) c.8520T>G (p.Arg2840=) c.4704T>G (p.Arg1568=) c.4257T>G (p.Arg1419=) c.3594T>G (p.Arg1198=) c.8109T>G (p.Arg2703=) | |
5 | g.13770847A>G | CA443535590 | DNAH5 | c.9507T>C (p.Arg3169=) c.9462T>C (p.Arg3154=) n.219T>C c.9615T>C (p.Arg3205=) c.8520T>C (p.Arg2840=) c.4704T>C (p.Arg1568=) c.4257T>C (p.Arg1419=) c.3594T>C (p.Arg1198=) c.8109T>C (p.Arg2703=) | |
5 | g.13770847A>T | CA443535591 | DNAH5 | c.9507T>A (p.Arg3169=) c.9462T>A (p.Arg3154=) n.219T>A c.9615T>A (p.Arg3205=) c.8520T>A (p.Arg2840=) c.4704T>A (p.Arg1568=) c.4257T>A (p.Arg1419=) c.3594T>A (p.Arg1198=) c.8109T>A (p.Arg2703=) | |
5 | g.13770848C>A | CA359204604 | DNAH5 | c.9506G>T (p.Arg3169Leu) c.9461G>T (p.Arg3154Leu) n.218G>T c.9614G>T (p.Arg3205Leu) c.8519G>T (p.Arg2840Leu) c.4703G>T (p.Arg1568Leu) c.4256G>T (p.Arg1419Leu) c.3593G>T (p.Arg1198Leu) c.8108G>T (p.Arg2703Leu) | |
5 | g.13770848C= | CA1528431210 | DNAH5 | c.9506G= (p.Arg3169=) c.9461G= (p.Arg3154=) n.218G= c.9614G= (p.Arg3205=) c.8519G= (p.Arg2840=) c.4703G= (p.Arg1568=) c.4256G= (p.Arg1419=) c.3593G= (p.Arg1198=) c.8108G= (p.Arg2703=) | |
5 | g.13770848C>G | CA359204606 | DNAH5 | c.9506G>C (p.Arg3169Pro) c.9461G>C (p.Arg3154Pro) n.218G>C c.9614G>C (p.Arg3205Pro) c.8519G>C (p.Arg2840Pro) c.4703G>C (p.Arg1568Pro) c.4256G>C (p.Arg1419Pro) c.3593G>C (p.Arg1198Pro) c.8108G>C (p.Arg2703Pro) | |
5 | g.13770848C>T | CA359204608 | DNAH5 | c.9506G>A (p.Arg3169His) c.9461G>A (p.Arg3154His) n.218G>A c.9614G>A (p.Arg3205His) c.8519G>A (p.Arg2840His) c.4703G>A (p.Arg1568His) c.4256G>A (p.Arg1419His) c.3593G>A (p.Arg1198His) c.8108G>A (p.Arg2703His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770849G>A | CA3202533 | DNAH5 | c.9505C>T (p.Arg3169Cys) c.9460C>T (p.Arg3154Cys) n.217C>T c.9613C>T (p.Arg3205Cys) c.8518C>T (p.Arg2840Cys) c.4702C>T (p.Arg1568Cys) c.4255C>T (p.Arg1419Cys) c.3592C>T (p.Arg1198Cys) c.8107C>T (p.Arg2703Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770849G>C | CA359204611 | DNAH5 | c.9505C>G (p.Arg3169Gly) c.9460C>G (p.Arg3154Gly) n.217C>G c.9613C>G (p.Arg3205Gly) c.8518C>G (p.Arg2840Gly) c.4702C>G (p.Arg1568Gly) c.4255C>G (p.Arg1419Gly) c.3592C>G (p.Arg1198Gly) c.8107C>G (p.Arg2703Gly) | |
5 | g.13770849G= | CA1528431211 | DNAH5 | c.9505C= (p.Arg3169=) c.9460C= (p.Arg3154=) n.217C= c.9613C= (p.Arg3205=) c.8518C= (p.Arg2840=) c.4702C= (p.Arg1568=) c.4255C= (p.Arg1419=) c.3592C= (p.Arg1198=) c.8107C= (p.Arg2703=) | |
5 | g.13770849G>T | CA3202534 | DNAH5 | c.9505C>A (p.Arg3169Ser) c.9460C>A (p.Arg3154Ser) n.217C>A c.9613C>A (p.Arg3205Ser) c.8518C>A (p.Arg2840Ser) c.4702C>A (p.Arg1568Ser) c.4255C>A (p.Arg1419Ser) c.3592C>A (p.Arg1198Ser) c.8107C>A (p.Arg2703Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770850T>A | CA443535597 | DNAH5 | c.9504A>T (p.Arg3168=) c.9459A>T (p.Arg3153=) n.216A>T c.9612A>T (p.Arg3204=) c.8517A>T (p.Arg2839=) c.4701A>T (p.Arg1567=) c.4254A>T (p.Arg1418=) c.3591A>T (p.Arg1197=) c.8106A>T (p.Arg2702=) | |
5 | g.13770850T>C | CA443535598 | DNAH5 | c.9504A>G (p.Arg3168=) c.9459A>G (p.Arg3153=) n.216A>G c.9612A>G (p.Arg3204=) c.8517A>G (p.Arg2839=) c.4701A>G (p.Arg1567=) c.4254A>G (p.Arg1418=) c.3591A>G (p.Arg1197=) c.8106A>G (p.Arg2702=) | gnomAD v4 |
5 | g.13770850T>G | CA443535599 | DNAH5 | c.9504A>C (p.Arg3168=) c.9459A>C (p.Arg3153=) n.216A>C c.9612A>C (p.Arg3204=) c.8517A>C (p.Arg2839=) c.4701A>C (p.Arg1567=) c.4254A>C (p.Arg1418=) c.3591A>C (p.Arg1197=) c.8106A>C (p.Arg2702=) | |
5 | g.13770851C>A | CA359204615 | DNAH5 | c.9503G>T (p.Arg3168Leu) c.9458G>T (p.Arg3153Leu) n.215G>T c.9611G>T (p.Arg3204Leu) c.8516G>T (p.Arg2839Leu) c.4700G>T (p.Arg1567Leu) c.4253G>T (p.Arg1418Leu) c.3590G>T (p.Arg1197Leu) c.8105G>T (p.Arg2702Leu) | |
5 | g.13770851C= | CA1528431212 | DNAH5 | c.9503G= (p.Arg3168=) c.9458G= (p.Arg3153=) n.215G= c.9611G= (p.Arg3204=) c.8516G= (p.Arg2839=) c.4700G= (p.Arg1567=) c.4253G= (p.Arg1418=) c.3590G= (p.Arg1197=) c.8105G= (p.Arg2702=) | |
5 | g.13770851C>G | CA359204617 | DNAH5 | c.9503G>C (p.Arg3168Pro) c.9458G>C (p.Arg3153Pro) n.215G>C c.9611G>C (p.Arg3204Pro) c.8516G>C (p.Arg2839Pro) c.4700G>C (p.Arg1567Pro) c.4253G>C (p.Arg1418Pro) c.3590G>C (p.Arg1197Pro) c.8105G>C (p.Arg2702Pro) | COSMIC |
5 | g.13770851C>T | CA3202535 | DNAH5 | c.9503G>A (p.Arg3168Gln) c.9458G>A (p.Arg3153Gln) n.215G>A c.9611G>A (p.Arg3204Gln) c.8516G>A (p.Arg2839Gln) c.4700G>A (p.Arg1567Gln) c.4253G>A (p.Arg1418Gln) c.3590G>A (p.Arg1197Gln) c.8105G>A (p.Arg2702Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770852G>A | CA338247 | DNAH5 | c.9502C>T (p.Arg3168Ter) c.9457C>T (p.Arg3153Ter) n.214C>T c.9610C>T (p.Arg3204Ter) c.8515C>T (p.Arg2839Ter) c.4699C>T (p.Arg1567Ter) c.4252C>T (p.Arg1418Ter) c.3589C>T (p.Arg1197Ter) c.8104C>T (p.Arg2702Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770852G>C | CA359204618 | DNAH5 | c.9502C>G (p.Arg3168Gly) c.9457C>G (p.Arg3153Gly) n.214C>G c.9610C>G (p.Arg3204Gly) c.8515C>G (p.Arg2839Gly) c.4699C>G (p.Arg1567Gly) c.4252C>G (p.Arg1418Gly) c.3589C>G (p.Arg1197Gly) c.8104C>G (p.Arg2702Gly) | |
5 | g.13770852G= | CA1528431213 | DNAH5 | c.9502C= (p.Arg3168=) c.9457C= (p.Arg3153=) n.214C= c.9610C= (p.Arg3204=) c.8515C= (p.Arg2839=) c.4699C= (p.Arg1567=) c.4252C= (p.Arg1418=) c.3589C= (p.Arg1197=) c.8104C= (p.Arg2702=) | |
5 | g.13770852G>T | CA443535601 | DNAH5 | c.9502C>A (p.Arg3168=) c.9457C>A (p.Arg3153=) n.214C>A c.9610C>A (p.Arg3204=) c.8515C>A (p.Arg2839=) c.4699C>A (p.Arg1567=) c.4252C>A (p.Arg1418=) c.3589C>A (p.Arg1197=) c.8104C>A (p.Arg2702=) | |
5 | g.13770853G>A | CA443535602 | DNAH5 | c.9501C>T (p.Phe3167=) c.9456C>T (p.Phe3152=) n.213C>T c.9609C>T (p.Phe3203=) c.8514C>T (p.Phe2838=) c.4698C>T (p.Phe1566=) c.4251C>T (p.Phe1417=) c.3588C>T (p.Phe1196=) c.8103C>T (p.Phe2701=) | |
5 | g.13770853G>C | CA359204619 | DNAH5 | c.9501C>G (p.Phe3167Leu) c.9456C>G (p.Phe3152Leu) n.213C>G c.9609C>G (p.Phe3203Leu) c.8514C>G (p.Phe2838Leu) c.4698C>G (p.Phe1566Leu) c.4251C>G (p.Phe1417Leu) c.3588C>G (p.Phe1196Leu) c.8103C>G (p.Phe2701Leu) | |
5 | g.13770853G>T | CA359204621 | DNAH5 | c.9501C>A (p.Phe3167Leu) c.9456C>A (p.Phe3152Leu) n.213C>A c.9609C>A (p.Phe3203Leu) c.8514C>A (p.Phe2838Leu) c.4698C>A (p.Phe1566Leu) c.4251C>A (p.Phe1417Leu) c.3588C>A (p.Phe1196Leu) c.8103C>A (p.Phe2701Leu) | |
5 | g.13770854A>C | CA359204622 | DNAH5 | c.9500T>G (p.Phe3167Cys) c.9455T>G (p.Phe3152Cys) n.212T>G c.9608T>G (p.Phe3203Cys) c.8513T>G (p.Phe2838Cys) c.4697T>G (p.Phe1566Cys) c.4250T>G (p.Phe1417Cys) c.3587T>G (p.Phe1196Cys) c.8102T>G (p.Phe2701Cys) | |
5 | g.13770854A>G | CA359204623 | DNAH5 | c.9500T>C (p.Phe3167Ser) c.9455T>C (p.Phe3152Ser) n.212T>C c.9608T>C (p.Phe3203Ser) c.8513T>C (p.Phe2838Ser) c.4697T>C (p.Phe1566Ser) c.4250T>C (p.Phe1417Ser) c.3587T>C (p.Phe1196Ser) c.8102T>C (p.Phe2701Ser) | |
5 | g.13770854A>T | CA359204625 | DNAH5 | c.9500T>A (p.Phe3167Tyr) c.9455T>A (p.Phe3152Tyr) n.212T>A c.9608T>A (p.Phe3203Tyr) c.8513T>A (p.Phe2838Tyr) c.4697T>A (p.Phe1566Tyr) c.4250T>A (p.Phe1417Tyr) c.3587T>A (p.Phe1196Tyr) c.8102T>A (p.Phe2701Tyr) | |
5 | g.13770855A>C | CA359204628 | DNAH5 | c.9499T>G (p.Phe3167Val) c.9454T>G (p.Phe3152Val) n.211T>G c.9607T>G (p.Phe3203Val) c.8512T>G (p.Phe2838Val) c.4696T>G (p.Phe1566Val) c.4249T>G (p.Phe1417Val) c.3586T>G (p.Phe1196Val) c.8101T>G (p.Phe2701Val) | |
5 | g.13770855A>G | CA359204629 | DNAH5 | c.9499T>C (p.Phe3167Leu) c.9454T>C (p.Phe3152Leu) n.211T>C c.9607T>C (p.Phe3203Leu) c.8512T>C (p.Phe2838Leu) c.4696T>C (p.Phe1566Leu) c.4249T>C (p.Phe1417Leu) c.3586T>C (p.Phe1196Leu) c.8101T>C (p.Phe2701Leu) | |
5 | g.13770855A>T | CA359204632 | DNAH5 | c.9499T>A (p.Phe3167Ile) c.9454T>A (p.Phe3152Ile) n.211T>A c.9607T>A (p.Phe3203Ile) c.8512T>A (p.Phe2838Ile) c.4696T>A (p.Phe1566Ile) c.4249T>A (p.Phe1417Ile) c.3586T>A (p.Phe1196Ile) c.8101T>A (p.Phe2701Ile) | |
5 | g.13770856T>A | CA359204634 | DNAH5 | c.9498A>T (p.Arg3166Ser) c.9453A>T (p.Arg3151Ser) n.210A>T c.9606A>T (p.Arg3202Ser) c.8511A>T (p.Arg2837Ser) c.4695A>T (p.Arg1565Ser) c.4248A>T (p.Arg1416Ser) c.3585A>T (p.Arg1195Ser) c.8100A>T (p.Arg2700Ser) | |
5 | g.13770856T>C | CA443535607 | DNAH5 | c.9498A>G (p.Arg3166=) c.9453A>G (p.Arg3151=) n.210A>G c.9606A>G (p.Arg3202=) c.8511A>G (p.Arg2837=) c.4695A>G (p.Arg1565=) c.4248A>G (p.Arg1416=) c.3585A>G (p.Arg1195=) c.8100A>G (p.Arg2700=) | |
5 | g.13770856T>G | CA359204636 | DNAH5 | c.9498A>C (p.Arg3166Ser) c.9453A>C (p.Arg3151Ser) n.210A>C c.9606A>C (p.Arg3202Ser) c.8511A>C (p.Arg2837Ser) c.4695A>C (p.Arg1565Ser) c.4248A>C (p.Arg1416Ser) c.3585A>C (p.Arg1195Ser) c.8100A>C (p.Arg2700Ser) | |
5 | g.13770857C>A | CA359204638 | DNAH5 | c.9497G>T (p.Arg3166Ile) c.9452G>T (p.Arg3151Ile) n.209G>T c.9605G>T (p.Arg3202Ile) c.8510G>T (p.Arg2837Ile) c.4694G>T (p.Arg1565Ile) c.4247G>T (p.Arg1416Ile) c.3584G>T (p.Arg1195Ile) c.8099G>T (p.Arg2700Ile) | |
5 | g.13770857C>G | CA359204640 | DNAH5 | c.9497G>C (p.Arg3166Thr) c.9452G>C (p.Arg3151Thr) n.209G>C c.9605G>C (p.Arg3202Thr) c.8510G>C (p.Arg2837Thr) c.4694G>C (p.Arg1565Thr) c.4247G>C (p.Arg1416Thr) c.3584G>C (p.Arg1195Thr) c.8099G>C (p.Arg2700Thr) | |
5 | g.13770857C>T | CA359204643 | DNAH5 | c.9497G>A (p.Arg3166Lys) c.9452G>A (p.Arg3151Lys) n.209G>A c.9605G>A (p.Arg3202Lys) c.8510G>A (p.Arg2837Lys) c.4694G>A (p.Arg1565Lys) c.4247G>A (p.Arg1416Lys) c.3584G>A (p.Arg1195Lys) c.8099G>A (p.Arg2700Lys) | gnomAD v4 |
5 | g.13770858T>A | CA359204645 | DNAH5 | c.9496A>T (p.Arg3166Ter) c.9451A>T (p.Arg3151Ter) n.208A>T c.9604A>T (p.Arg3202Ter) c.8509A>T (p.Arg2837Ter) c.4693A>T (p.Arg1565Ter) c.4246A>T (p.Arg1416Ter) c.3583A>T (p.Arg1195Ter) c.8098A>T (p.Arg2700Ter) | |
5 | g.13770858T>C | CA359204647 | DNAH5 | c.9496A>G (p.Arg3166Gly) c.9451A>G (p.Arg3151Gly) n.208A>G c.9604A>G (p.Arg3202Gly) c.8509A>G (p.Arg2837Gly) c.4693A>G (p.Arg1565Gly) c.4246A>G (p.Arg1416Gly) c.3583A>G (p.Arg1195Gly) c.8098A>G (p.Arg2700Gly) | COSMIC |
5 | g.13770858T>G | CA443535608 | DNAH5 | c.9496A>C (p.Arg3166=) c.9451A>C (p.Arg3151=) n.208A>C c.9604A>C (p.Arg3202=) c.8509A>C (p.Arg2837=) c.4693A>C (p.Arg1565=) c.4246A>C (p.Arg1416=) c.3583A>C (p.Arg1195=) c.8098A>C (p.Arg2700=) | |
5 | g.13770859C>A | CA359204650 | DNAH5 | c.9495G>T (p.Gln3165His) c.9450G>T (p.Gln3150His) n.207G>T c.9603G>T (p.Gln3201His) c.8508G>T (p.Gln2836His) c.4692G>T (p.Gln1564His) c.4245G>T (p.Gln1415His) c.3582G>T (p.Gln1194His) c.8097G>T (p.Gln2699His) | |
5 | g.13770859C>G | CA359204652 | DNAH5 | c.9495G>C (p.Gln3165His) c.9450G>C (p.Gln3150His) n.207G>C c.9603G>C (p.Gln3201His) c.8508G>C (p.Gln2836His) c.4692G>C (p.Gln1564His) c.4245G>C (p.Gln1415His) c.3582G>C (p.Gln1194His) c.8097G>C (p.Gln2699His) | |
5 | g.13770859C>T | CA443535612 | DNAH5 | c.9495G>A (p.Gln3165=) c.9450G>A (p.Gln3150=) n.207G>A c.9603G>A (p.Gln3201=) c.8508G>A (p.Gln2836=) c.4692G>A (p.Gln1564=) c.4245G>A (p.Gln1415=) c.3582G>A (p.Gln1194=) c.8097G>A (p.Gln2699=) | |
5 | g.13770860T>A | CA359204656 | DNAH5 | c.9494A>T (p.Gln3165Leu) c.9449A>T (p.Gln3150Leu) n.206A>T c.9602A>T (p.Gln3201Leu) c.8507A>T (p.Gln2836Leu) c.4691A>T (p.Gln1564Leu) c.4244A>T (p.Gln1415Leu) c.3581A>T (p.Gln1194Leu) c.8096A>T (p.Gln2699Leu) | COSMIC |
5 | g.13770860T>C | CA359204658 | DNAH5 | c.9494A>G (p.Gln3165Arg) c.9449A>G (p.Gln3150Arg) n.206A>G c.9602A>G (p.Gln3201Arg) c.8507A>G (p.Gln2836Arg) c.4691A>G (p.Gln1564Arg) c.4244A>G (p.Gln1415Arg) c.3581A>G (p.Gln1194Arg) c.8096A>G (p.Gln2699Arg) | |
5 | g.13770860T>G | CA359204662 | DNAH5 | c.9494A>C (p.Gln3165Pro) c.9449A>C (p.Gln3150Pro) n.206A>C c.9602A>C (p.Gln3201Pro) c.8507A>C (p.Gln2836Pro) c.4691A>C (p.Gln1564Pro) c.4244A>C (p.Gln1415Pro) c.3581A>C (p.Gln1194Pro) c.8096A>C (p.Gln2699Pro) | |
5 | g.13770861G>A | CA359204667 | DNAH5 | c.9493C>T (p.Gln3165Ter) c.9448C>T (p.Gln3150Ter) n.205C>T c.9601C>T (p.Gln3201Ter) c.8506C>T (p.Gln2836Ter) c.4690C>T (p.Gln1564Ter) c.4243C>T (p.Gln1415Ter) c.3580C>T (p.Gln1194Ter) c.8095C>T (p.Gln2699Ter) | COSMIC |
5 | g.13770861G>C | CA359204670 | DNAH5 | c.9493C>G (p.Gln3165Glu) c.9448C>G (p.Gln3150Glu) n.205C>G c.9601C>G (p.Gln3201Glu) c.8506C>G (p.Gln2836Glu) c.4690C>G (p.Gln1564Glu) c.4243C>G (p.Gln1415Glu) c.3580C>G (p.Gln1194Glu) c.8095C>G (p.Gln2699Glu) | |
5 | g.13770861G>T | CA359204673 | DNAH5 | c.9493C>A (p.Gln3165Lys) c.9448C>A (p.Gln3150Lys) n.205C>A c.9601C>A (p.Gln3201Lys) c.8506C>A (p.Gln2836Lys) c.4690C>A (p.Gln1564Lys) c.4243C>A (p.Gln1415Lys) c.3580C>A (p.Gln1194Lys) c.8095C>A (p.Gln2699Lys) | |
5 | g.13770862A>C | CA359204678 | DNAH5 | c.9492T>G (p.Phe3164Leu) c.9447T>G (p.Phe3149Leu) n.204T>G c.9600T>G (p.Phe3200Leu) c.8505T>G (p.Phe2835Leu) c.4689T>G (p.Phe1563Leu) c.4242T>G (p.Phe1414Leu) c.3579T>G (p.Phe1193Leu) c.8094T>G (p.Phe2698Leu) | |
5 | g.13770862A>G | CA443535617 | DNAH5 | c.9492T>C (p.Phe3164=) c.9447T>C (p.Phe3149=) n.204T>C c.9600T>C (p.Phe3200=) c.8505T>C (p.Phe2835=) c.4689T>C (p.Phe1563=) c.4242T>C (p.Phe1414=) c.3579T>C (p.Phe1193=) c.8094T>C (p.Phe2698=) | |
5 | g.13770862A>T | CA359204681 | DNAH5 | c.9492T>A (p.Phe3164Leu) c.9447T>A (p.Phe3149Leu) n.204T>A c.9600T>A (p.Phe3200Leu) c.8505T>A (p.Phe2835Leu) c.4689T>A (p.Phe1563Leu) c.4242T>A (p.Phe1414Leu) c.3579T>A (p.Phe1193Leu) c.8094T>A (p.Phe2698Leu) | |
5 | g.13770863A>C | CA359204682 | DNAH5 | c.9491T>G (p.Phe3164Cys) c.9446T>G (p.Phe3149Cys) n.203T>G c.9599T>G (p.Phe3200Cys) c.8504T>G (p.Phe2835Cys) c.4688T>G (p.Phe1563Cys) c.4241T>G (p.Phe1414Cys) c.3578T>G (p.Phe1193Cys) c.8093T>G (p.Phe2698Cys) | |
5 | g.13770863A>G | CA359204685 | DNAH5 | c.9491T>C (p.Phe3164Ser) c.9446T>C (p.Phe3149Ser) n.203T>C c.9599T>C (p.Phe3200Ser) c.8504T>C (p.Phe2835Ser) c.4688T>C (p.Phe1563Ser) c.4241T>C (p.Phe1414Ser) c.3578T>C (p.Phe1193Ser) c.8093T>C (p.Phe2698Ser) | |
5 | g.13770863A>T | CA359204689 | DNAH5 | c.9491T>A (p.Phe3164Tyr) c.9446T>A (p.Phe3149Tyr) n.203T>A c.9599T>A (p.Phe3200Tyr) c.8504T>A (p.Phe2835Tyr) c.4688T>A (p.Phe1563Tyr) c.4241T>A (p.Phe1414Tyr) c.3578T>A (p.Phe1193Tyr) c.8093T>A (p.Phe2698Tyr) | |
5 | g.13770864A= | CA1528431214 | DNAH5 | c.9490T= (p.Phe3164=) c.9445T= (p.Phe3149=) n.202T= c.9598T= (p.Phe3200=) c.8503T= (p.Phe2835=) c.4687T= (p.Phe1563=) c.4240T= (p.Phe1414=) c.3577T= (p.Phe1193=) c.8092T= (p.Phe2698=) | |
5 | g.13770864A>C | CA3202536 | DNAH5 | c.9490T>G (p.Phe3164Val) c.9445T>G (p.Phe3149Val) n.202T>G c.9598T>G (p.Phe3200Val) c.8503T>G (p.Phe2835Val) c.4687T>G (p.Phe1563Val) c.4240T>G (p.Phe1414Val) c.3577T>G (p.Phe1193Val) c.8092T>G (p.Phe2698Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770864A>G | CA359204699 | DNAH5 | c.9490T>C (p.Phe3164Leu) c.9445T>C (p.Phe3149Leu) n.202T>C c.9598T>C (p.Phe3200Leu) c.8503T>C (p.Phe2835Leu) c.4687T>C (p.Phe1563Leu) c.4240T>C (p.Phe1414Leu) c.3577T>C (p.Phe1193Leu) c.8092T>C (p.Phe2698Leu) | |
5 | g.13770864A>T | CA359204696 | DNAH5 | c.9490T>A (p.Phe3164Ile) c.9445T>A (p.Phe3149Ile) n.202T>A c.9598T>A (p.Phe3200Ile) c.8503T>A (p.Phe2835Ile) c.4687T>A (p.Phe1563Ile) c.4240T>A (p.Phe1414Ile) c.3577T>A (p.Phe1193Ile) c.8092T>A (p.Phe2698Ile) | |
5 | g.13770865A= | CA1528431215 | DNAH5 | c.9489T= (p.Tyr3163=) c.9444T= (p.Tyr3148=) n.201T= c.9597T= (p.Tyr3199=) c.8502T= (p.Tyr2834=) c.4686T= (p.Tyr1562=) c.4239T= (p.Tyr1413=) c.3576T= (p.Tyr1192=) c.8091T= (p.Tyr2697=) | |
5 | g.13770865A>C | CA359204700 | DNAH5 | c.9489T>G (p.Tyr3163Ter) c.9444T>G (p.Tyr3148Ter) n.201T>G c.9597T>G (p.Tyr3199Ter) c.8502T>G (p.Tyr2834Ter) c.4686T>G (p.Tyr1562Ter) c.4239T>G (p.Tyr1413Ter) c.3576T>G (p.Tyr1192Ter) c.8091T>G (p.Tyr2697Ter) | ClinVar |
5 | g.13770865A>G | CA113932995 | DNAH5 | c.9489T>C (p.Tyr3163=) c.9444T>C (p.Tyr3148=) n.201T>C c.9597T>C (p.Tyr3199=) c.8502T>C (p.Tyr2834=) c.4686T>C (p.Tyr1562=) c.4239T>C (p.Tyr1413=) c.3576T>C (p.Tyr1192=) c.8091T>C (p.Tyr2697=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770865A>T | CA359204703 | DNAH5 | c.9489T>A (p.Tyr3163Ter) c.9444T>A (p.Tyr3148Ter) n.201T>A c.9597T>A (p.Tyr3199Ter) c.8502T>A (p.Tyr2834Ter) c.4686T>A (p.Tyr1562Ter) c.4239T>A (p.Tyr1413Ter) c.3576T>A (p.Tyr1192Ter) c.8091T>A (p.Tyr2697Ter) | |
5 | g.13770866T>A | CA359204704 | DNAH5 | c.9488A>T (p.Tyr3163Phe) c.9443A>T (p.Tyr3148Phe) n.200A>T c.9596A>T (p.Tyr3199Phe) c.8501A>T (p.Tyr2834Phe) c.4685A>T (p.Tyr1562Phe) c.4238A>T (p.Tyr1413Phe) c.3575A>T (p.Tyr1192Phe) c.8090A>T (p.Tyr2697Phe) | |
5 | g.13770866T>C | CA359204705 | DNAH5 | c.9488A>G (p.Tyr3163Cys) c.9443A>G (p.Tyr3148Cys) n.200A>G c.9596A>G (p.Tyr3199Cys) c.8501A>G (p.Tyr2834Cys) c.4685A>G (p.Tyr1562Cys) c.4238A>G (p.Tyr1413Cys) c.3575A>G (p.Tyr1192Cys) c.8090A>G (p.Tyr2697Cys) | |
5 | g.13770866T>G | CA359204706 | DNAH5 | c.9488A>C (p.Tyr3163Ser) c.9443A>C (p.Tyr3148Ser) n.200A>C c.9596A>C (p.Tyr3199Ser) c.8501A>C (p.Tyr2834Ser) c.4685A>C (p.Tyr1562Ser) c.4238A>C (p.Tyr1413Ser) c.3575A>C (p.Tyr1192Ser) c.8090A>C (p.Tyr2697Ser) | |
5 | g.13770867A>C | CA359204710 | DNAH5 | c.9487T>G (p.Tyr3163Asp) c.9442T>G (p.Tyr3148Asp) n.199T>G c.9595T>G (p.Tyr3199Asp) c.8500T>G (p.Tyr2834Asp) c.4684T>G (p.Tyr1562Asp) c.4237T>G (p.Tyr1413Asp) c.3574T>G (p.Tyr1192Asp) c.8089T>G (p.Tyr2697Asp) | |
5 | g.13770867A>G | CA359204707 | DNAH5 | c.9487T>C (p.Tyr3163His) c.9442T>C (p.Tyr3148His) n.199T>C c.9595T>C (p.Tyr3199His) c.8500T>C (p.Tyr2834His) c.4684T>C (p.Tyr1562His) c.4237T>C (p.Tyr1413His) c.3574T>C (p.Tyr1192His) c.8089T>C (p.Tyr2697His) | gnomAD v4 |
5 | g.13770867A>T | CA359204708 | DNAH5 | c.9487T>A (p.Tyr3163Asn) c.9442T>A (p.Tyr3148Asn) n.199T>A c.9595T>A (p.Tyr3199Asn) c.8500T>A (p.Tyr2834Asn) c.4684T>A (p.Tyr1562Asn) c.4237T>A (p.Tyr1413Asn) c.3574T>A (p.Tyr1192Asn) c.8089T>A (p.Tyr2697Asn) | |
5 | g.13770869_13770872del | CA2695204135 | DNAH5 | c.9484_9487del (p.Asp3162IlefsTer11) c.9439_9442del (p.Asp3147IlefsTer11) n.196_199del c.9592_9595del (p.Asp3198IlefsTer11) c.8497_8500del (p.Asp2833IlefsTer11) c.4681_4684del (p.Asp1561IlefsTer11) c.4234_4237del (p.Asp1412IlefsTer11) c.3571_3574del (p.Asp1191IlefsTer11) c.8086_8089del (p.Asp2696IlefsTer11) | |
5 | g.13770868A>C | CA359204713 | DNAH5 | c.9486T>G (p.Asp3162Glu) c.9441T>G (p.Asp3147Glu) n.198T>G c.9594T>G (p.Asp3198Glu) c.8499T>G (p.Asp2833Glu) c.4683T>G (p.Asp1561Glu) c.4236T>G (p.Asp1412Glu) c.3573T>G (p.Asp1191Glu) c.8088T>G (p.Asp2696Glu) | |
5 | g.13770868A>G | CA443535623 | DNAH5 | c.9486T>C (p.Asp3162=) c.9441T>C (p.Asp3147=) n.198T>C c.9594T>C (p.Asp3198=) c.8499T>C (p.Asp2833=) c.4683T>C (p.Asp1561=) c.4236T>C (p.Asp1412=) c.3573T>C (p.Asp1191=) c.8088T>C (p.Asp2696=) | gnomAD v4 |
5 | g.13770868A>T | CA359204715 | DNAH5 | c.9486T>A (p.Asp3162Glu) c.9441T>A (p.Asp3147Glu) n.198T>A c.9594T>A (p.Asp3198Glu) c.8499T>A (p.Asp2833Glu) c.4683T>A (p.Asp1561Glu) c.4236T>A (p.Asp1412Glu) c.3573T>A (p.Asp1191Glu) c.8088T>A (p.Asp2696Glu) | |
5 | g.13770869T>A | CA359204718 | DNAH5 | c.9485A>T (p.Asp3162Val) c.9440A>T (p.Asp3147Val) n.197A>T c.9593A>T (p.Asp3198Val) c.8498A>T (p.Asp2833Val) c.4682A>T (p.Asp1561Val) c.4235A>T (p.Asp1412Val) c.3572A>T (p.Asp1191Val) c.8087A>T (p.Asp2696Val) | |
5 | g.13770869T>C | CA359204722 | DNAH5 | c.9485A>G (p.Asp3162Gly) c.9440A>G (p.Asp3147Gly) n.197A>G c.9593A>G (p.Asp3198Gly) c.8498A>G (p.Asp2833Gly) c.4682A>G (p.Asp1561Gly) c.4235A>G (p.Asp1412Gly) c.3572A>G (p.Asp1191Gly) c.8087A>G (p.Asp2696Gly) | |
5 | g.13770869T>G | CA359204724 | DNAH5 | c.9485A>C (p.Asp3162Ala) c.9440A>C (p.Asp3147Ala) n.197A>C c.9593A>C (p.Asp3198Ala) c.8498A>C (p.Asp2833Ala) c.4682A>C (p.Asp1561Ala) c.4235A>C (p.Asp1412Ala) c.3572A>C (p.Asp1191Ala) c.8087A>C (p.Asp2696Ala) | |
5 | g.13770870C>A | CA359204728 | DNAH5 | c.9484G>T (p.Asp3162Tyr) c.9439G>T (p.Asp3147Tyr) n.196G>T c.9592G>T (p.Asp3198Tyr) c.8497G>T (p.Asp2833Tyr) c.4681G>T (p.Asp1561Tyr) c.4234G>T (p.Asp1412Tyr) c.3571G>T (p.Asp1191Tyr) c.8086G>T (p.Asp2696Tyr) | |
5 | g.13770870C= | CA1528431216 | DNAH5 | c.9484G= (p.Asp3162=) c.9439G= (p.Asp3147=) n.196G= c.9592G= (p.Asp3198=) c.8497G= (p.Asp2833=) c.4681G= (p.Asp1561=) c.4234G= (p.Asp1412=) c.3571G= (p.Asp1191=) c.8086G= (p.Asp2696=) | |
5 | g.13770870C>G | CA359204732 | DNAH5 | c.9484G>C (p.Asp3162His) c.9439G>C (p.Asp3147His) n.196G>C c.9592G>C (p.Asp3198His) c.8497G>C (p.Asp2833His) c.4681G>C (p.Asp1561His) c.4234G>C (p.Asp1412His) c.3571G>C (p.Asp1191His) c.8086G>C (p.Asp2696His) | dbSNP gnomAD v4 |
5 | g.13770870C>T | CA359204729 | DNAH5 | c.9484G>A (p.Asp3162Asn) c.9439G>A (p.Asp3147Asn) n.196G>A c.9592G>A (p.Asp3198Asn) c.8497G>A (p.Asp2833Asn) c.4681G>A (p.Asp1561Asn) c.4234G>A (p.Asp1412Asn) c.3571G>A (p.Asp1191Asn) c.8086G>A (p.Asp2696Asn) | |
5 | g.13770871A>C | CA443535625 | DNAH5 | c.9483T>G (p.Val3161=) c.9438T>G (p.Val3146=) n.195T>G c.9591T>G (p.Val3197=) c.8496T>G (p.Val2832=) c.4680T>G (p.Val1560=) c.4233T>G (p.Val1411=) c.3570T>G (p.Val1190=) c.8085T>G (p.Val2695=) | |
5 | g.13770871A>G | CA443535627 | DNAH5 | c.9483T>C (p.Val3161=) c.9438T>C (p.Val3146=) n.195T>C c.9591T>C (p.Val3197=) c.8496T>C (p.Val2832=) c.4680T>C (p.Val1560=) c.4233T>C (p.Val1411=) c.3570T>C (p.Val1190=) c.8085T>C (p.Val2695=) | |
5 | g.13770871A>T | CA443535628 | DNAH5 | c.9483T>A (p.Val3161=) c.9438T>A (p.Val3146=) n.195T>A c.9591T>A (p.Val3197=) c.8496T>A (p.Val2832=) c.4680T>A (p.Val1560=) c.4233T>A (p.Val1411=) c.3570T>A (p.Val1190=) c.8085T>A (p.Val2695=) | |
5 | g.13770872A= | CA1528431217 | DNAH5 | c.9482T= (p.Val3161=) c.9437T= (p.Val3146=) n.194T= c.9590T= (p.Val3197=) c.8495T= (p.Val2832=) c.4679T= (p.Val1560=) c.4232T= (p.Val1411=) c.3569T= (p.Val1190=) c.8084T= (p.Val2695=) | |
5 | g.13770872A>C | CA359204736 | DNAH5 | c.9482T>G (p.Val3161Gly) c.9437T>G (p.Val3146Gly) n.194T>G c.9590T>G (p.Val3197Gly) c.8495T>G (p.Val2832Gly) c.4679T>G (p.Val1560Gly) c.4232T>G (p.Val1411Gly) c.3569T>G (p.Val1190Gly) c.8084T>G (p.Val2695Gly) | |
5 | g.13770872A>G | CA359204738 | DNAH5 | c.9482T>C (p.Val3161Ala) c.9437T>C (p.Val3146Ala) n.194T>C c.9590T>C (p.Val3197Ala) c.8495T>C (p.Val2832Ala) c.4679T>C (p.Val1560Ala) c.4232T>C (p.Val1411Ala) c.3569T>C (p.Val1190Ala) c.8084T>C (p.Val2695Ala) | dbSNP |
5 | g.13770872A>T | CA113933001 | DNAH5 | c.9482T>A (p.Val3161Asp) c.9437T>A (p.Val3146Asp) n.194T>A c.9590T>A (p.Val3197Asp) c.8495T>A (p.Val2832Asp) c.4679T>A (p.Val1560Asp) c.4232T>A (p.Val1411Asp) c.3569T>A (p.Val1190Asp) c.8084T>A (p.Val2695Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770873C>A | CA3202537 | DNAH5 | c.9481G>T (p.Val3161Phe) c.9436G>T (p.Val3146Phe) n.193G>T c.9589G>T (p.Val3197Phe) c.8494G>T (p.Val2832Phe) c.4678G>T (p.Val1560Phe) c.4231G>T (p.Val1411Phe) c.3568G>T (p.Val1190Phe) c.8083G>T (p.Val2695Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770873C= | CA1528431218 | DNAH5 | c.9481G= (p.Val3161=) c.9436G= (p.Val3146=) n.193G= c.9589G= (p.Val3197=) c.8494G= (p.Val2832=) c.4678G= (p.Val1560=) c.4231G= (p.Val1411=) c.3568G= (p.Val1190=) c.8083G= (p.Val2695=) | |
5 | g.13770873C>G | CA359204742 | DNAH5 | c.9481G>C (p.Val3161Leu) c.9436G>C (p.Val3146Leu) n.193G>C c.9589G>C (p.Val3197Leu) c.8494G>C (p.Val2832Leu) c.4678G>C (p.Val1560Leu) c.4231G>C (p.Val1411Leu) c.3568G>C (p.Val1190Leu) c.8083G>C (p.Val2695Leu) | |
5 | g.13770873C>T | CA359204744 | DNAH5 | c.9481G>A (p.Val3161Ile) c.9436G>A (p.Val3146Ile) n.193G>A c.9589G>A (p.Val3197Ile) c.8494G>A (p.Val2832Ile) c.4678G>A (p.Val1560Ile) c.4231G>A (p.Val1411Ile) c.3568G>A (p.Val1190Ile) c.8083G>A (p.Val2695Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770874A= | CA1528431219 | DNAH5 | c.9480T= (p.Cys3160=) c.9435T= (p.Cys3145=) n.192T= c.9588T= (p.Cys3196=) c.8493T= (p.Cys2831=) c.4677T= (p.Cys1559=) c.4230T= (p.Cys1410=) c.3567T= (p.Cys1189=) c.8082T= (p.Cys2694=) | |
5 | g.13770874A>C | CA359204749 | DNAH5 | c.9480T>G (p.Cys3160Trp) c.9435T>G (p.Cys3145Trp) n.192T>G c.9588T>G (p.Cys3196Trp) c.8493T>G (p.Cys2831Trp) c.4677T>G (p.Cys1559Trp) c.4230T>G (p.Cys1410Trp) c.3567T>G (p.Cys1189Trp) c.8082T>G (p.Cys2694Trp) | |
5 | g.13770874A>G | CA443535630 | DNAH5 | c.9480T>C (p.Cys3160=) c.9435T>C (p.Cys3145=) n.192T>C c.9588T>C (p.Cys3196=) c.8493T>C (p.Cys2831=) c.4677T>C (p.Cys1559=) c.4230T>C (p.Cys1410=) c.3567T>C (p.Cys1189=) c.8082T>C (p.Cys2694=) | gnomAD v4 |
5 | g.13770874A>T | CA3202538 | DNAH5 | c.9480T>A (p.Cys3160Ter) c.9435T>A (p.Cys3145Ter) n.192T>A c.9588T>A (p.Cys3196Ter) c.8493T>A (p.Cys2831Ter) c.4677T>A (p.Cys1559Ter) c.4230T>A (p.Cys1410Ter) c.3567T>A (p.Cys1189Ter) c.8082T>A (p.Cys2694Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770875C>A | CA359204755 | DNAH5 | c.9479G>T (p.Cys3160Phe) c.9434G>T (p.Cys3145Phe) n.191G>T c.9587G>T (p.Cys3196Phe) c.8492G>T (p.Cys2831Phe) c.4676G>T (p.Cys1559Phe) c.4229G>T (p.Cys1410Phe) c.3566G>T (p.Cys1189Phe) c.8081G>T (p.Cys2694Phe) | |
5 | g.13770875C>G | CA359204760 | DNAH5 | c.9479G>C (p.Cys3160Ser) c.9434G>C (p.Cys3145Ser) n.191G>C c.9587G>C (p.Cys3196Ser) c.8492G>C (p.Cys2831Ser) c.4676G>C (p.Cys1559Ser) c.4229G>C (p.Cys1410Ser) c.3566G>C (p.Cys1189Ser) c.8081G>C (p.Cys2694Ser) | |
5 | g.13770875C>T | CA359204764 | DNAH5 | c.9479G>A (p.Cys3160Tyr) c.9434G>A (p.Cys3145Tyr) n.191G>A c.9587G>A (p.Cys3196Tyr) c.8492G>A (p.Cys2831Tyr) c.4676G>A (p.Cys1559Tyr) c.4229G>A (p.Cys1410Tyr) c.3566G>A (p.Cys1189Tyr) c.8081G>A (p.Cys2694Tyr) | |
5 | g.13770876A= | CA1528431220 | DNAH5 | c.9478T= (p.Cys3160=) c.9433T= (p.Cys3145=) n.190T= c.9586T= (p.Cys3196=) c.8491T= (p.Cys2831=) c.4675T= (p.Cys1559=) c.4228T= (p.Cys1410=) c.3565T= (p.Cys1189=) c.8080T= (p.Cys2694=) | |
5 | g.13770876A>C | CA359204772 | DNAH5 | c.9478T>G (p.Cys3160Gly) c.9433T>G (p.Cys3145Gly) n.190T>G c.9586T>G (p.Cys3196Gly) c.8491T>G (p.Cys2831Gly) c.4675T>G (p.Cys1559Gly) c.4228T>G (p.Cys1410Gly) c.3565T>G (p.Cys1189Gly) c.8080T>G (p.Cys2694Gly) | |
5 | g.13770876A>G | CA3202539 | DNAH5 | c.9478T>C (p.Cys3160Arg) c.9433T>C (p.Cys3145Arg) n.190T>C c.9586T>C (p.Cys3196Arg) c.8491T>C (p.Cys2831Arg) c.4675T>C (p.Cys1559Arg) c.4228T>C (p.Cys1410Arg) c.3565T>C (p.Cys1189Arg) c.8080T>C (p.Cys2694Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770876A>T | CA359204767 | DNAH5 | c.9478T>A (p.Cys3160Ser) c.9433T>A (p.Cys3145Ser) n.190T>A c.9586T>A (p.Cys3196Ser) c.8491T>A (p.Cys2831Ser) c.4675T>A (p.Cys1559Ser) c.4228T>A (p.Cys1410Ser) c.3565T>A (p.Cys1189Ser) c.8080T>A (p.Cys2694Ser) | |
5 | g.13770877C>A | CA359204786 | DNAH5 | c.9477G>T (p.Lys3159Asn) c.9432G>T (p.Lys3144Asn) n.189G>T c.9585G>T (p.Lys3195Asn) c.8490G>T (p.Lys2830Asn) c.4674G>T (p.Lys1558Asn) c.4227G>T (p.Lys1409Asn) c.3564G>T (p.Lys1188Asn) c.8079G>T (p.Lys2693Asn) | |
5 | g.13770877C= | CA1528431221 | DNAH5 | c.9477G= (p.Lys3159=) c.9432G= (p.Lys3144=) n.189G= c.9585G= (p.Lys3195=) c.8490G= (p.Lys2830=) c.4674G= (p.Lys1558=) c.4227G= (p.Lys1409=) c.3564G= (p.Lys1188=) c.8079G= (p.Lys2693=) | |
5 | g.13770877C>G | CA359204790 | DNAH5 | c.9477G>C (p.Lys3159Asn) c.9432G>C (p.Lys3144Asn) n.189G>C c.9585G>C (p.Lys3195Asn) c.8490G>C (p.Lys2830Asn) c.4674G>C (p.Lys1558Asn) c.4227G>C (p.Lys1409Asn) c.3564G>C (p.Lys1188Asn) c.8079G>C (p.Lys2693Asn) | |
5 | g.13770877C>T | CA443535640 | DNAH5 | c.9477G>A (p.Lys3159=) c.9432G>A (p.Lys3144=) n.189G>A c.9585G>A (p.Lys3195=) c.8490G>A (p.Lys2830=) c.4674G>A (p.Lys1558=) c.4227G>A (p.Lys1409=) c.3564G>A (p.Lys1188=) c.8079G>A (p.Lys2693=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770878T>A | CA359204794 | DNAH5 | c.9476A>T (p.Lys3159Met) c.9431A>T (p.Lys3144Met) n.188A>T c.9584A>T (p.Lys3195Met) c.8489A>T (p.Lys2830Met) c.4673A>T (p.Lys1558Met) c.4226A>T (p.Lys1409Met) c.3563A>T (p.Lys1188Met) c.8078A>T (p.Lys2693Met) | |
5 | g.13770878T>C | CA359204804 | DNAH5 | c.9476A>G (p.Lys3159Arg) c.9431A>G (p.Lys3144Arg) n.188A>G c.9584A>G (p.Lys3195Arg) c.8489A>G (p.Lys2830Arg) c.4673A>G (p.Lys1558Arg) c.4226A>G (p.Lys1409Arg) c.3563A>G (p.Lys1188Arg) c.8078A>G (p.Lys2693Arg) | |
5 | g.13770878T>G | CA359204796 | DNAH5 | c.9476A>C (p.Lys3159Thr) c.9431A>C (p.Lys3144Thr) n.188A>C c.9584A>C (p.Lys3195Thr) c.8489A>C (p.Lys2830Thr) c.4673A>C (p.Lys1558Thr) c.4226A>C (p.Lys1409Thr) c.3563A>C (p.Lys1188Thr) c.8078A>C (p.Lys2693Thr) | |
5 | g.13770879T>A | CA3202540 | DNAH5 | c.9475A>T (p.Lys3159Ter) c.9430A>T (p.Lys3144Ter) n.187A>T c.9583A>T (p.Lys3195Ter) c.8488A>T (p.Lys2830Ter) c.4672A>T (p.Lys1558Ter) c.4225A>T (p.Lys1409Ter) c.3562A>T (p.Lys1188Ter) c.8077A>T (p.Lys2693Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770879T>C | CA359204814 | DNAH5 | c.9475A>G (p.Lys3159Glu) c.9430A>G (p.Lys3144Glu) n.187A>G c.9583A>G (p.Lys3195Glu) c.8488A>G (p.Lys2830Glu) c.4672A>G (p.Lys1558Glu) c.4225A>G (p.Lys1409Glu) c.3562A>G (p.Lys1188Glu) c.8077A>G (p.Lys2693Glu) | |
5 | g.13770879T>G | CA359204811 | DNAH5 | c.9475A>C (p.Lys3159Gln) c.9430A>C (p.Lys3144Gln) n.187A>C c.9583A>C (p.Lys3195Gln) c.8488A>C (p.Lys2830Gln) c.4672A>C (p.Lys1558Gln) c.4225A>C (p.Lys1409Gln) c.3562A>C (p.Lys1188Gln) c.8077A>C (p.Lys2693Gln) | dbSNP |
5 | g.13770879T= | CA1528431222 | DNAH5 | c.9475A= (p.Lys3159=) c.9430A= (p.Lys3144=) n.187A= c.9583A= (p.Lys3195=) c.8488A= (p.Lys2830=) c.4672A= (p.Lys1558=) c.4225A= (p.Lys1409=) c.3562A= (p.Lys1188=) c.8077A= (p.Lys2693=) | |
5 | g.13770880C>A | CA359204817 | DNAH5 | c.9474G>T (p.Glu3158Asp) c.9429G>T (p.Glu3143Asp) n.186G>T c.9582G>T (p.Glu3194Asp) c.8487G>T (p.Glu2829Asp) c.4671G>T (p.Glu1557Asp) c.4224G>T (p.Glu1408Asp) c.3561G>T (p.Glu1187Asp) c.8076G>T (p.Glu2692Asp) | COSMIC |
5 | g.13770880C>G | CA359204819 | DNAH5 | c.9474G>C (p.Glu3158Asp) c.9429G>C (p.Glu3143Asp) n.186G>C c.9582G>C (p.Glu3194Asp) c.8487G>C (p.Glu2829Asp) c.4671G>C (p.Glu1557Asp) c.4224G>C (p.Glu1408Asp) c.3561G>C (p.Glu1187Asp) c.8076G>C (p.Glu2692Asp) | |
5 | g.13770880C>T | CA443535647 | DNAH5 | c.9474G>A (p.Glu3158=) c.9429G>A (p.Glu3143=) n.186G>A c.9582G>A (p.Glu3194=) c.8487G>A (p.Glu2829=) c.4671G>A (p.Glu1557=) c.4224G>A (p.Glu1408=) c.3561G>A (p.Glu1187=) c.8076G>A (p.Glu2692=) | gnomAD v4 |
5 | g.13770881T>A | CA359204822 | DNAH5 | c.9473A>T (p.Glu3158Val) c.9428A>T (p.Glu3143Val) n.185A>T c.9581A>T (p.Glu3194Val) c.8486A>T (p.Glu2829Val) c.4670A>T (p.Glu1557Val) c.4223A>T (p.Glu1408Val) c.3560A>T (p.Glu1187Val) c.8075A>T (p.Glu2692Val) | |
5 | g.13770881T>C | CA359204824 | DNAH5 | c.9473A>G (p.Glu3158Gly) c.9428A>G (p.Glu3143Gly) n.185A>G c.9581A>G (p.Glu3194Gly) c.8486A>G (p.Glu2829Gly) c.4670A>G (p.Glu1557Gly) c.4223A>G (p.Glu1408Gly) c.3560A>G (p.Glu1187Gly) c.8075A>G (p.Glu2692Gly) | |
5 | g.13770881T>G | CA359204825 | DNAH5 | c.9473A>C (p.Glu3158Ala) c.9428A>C (p.Glu3143Ala) n.185A>C c.9581A>C (p.Glu3194Ala) c.8486A>C (p.Glu2829Ala) c.4670A>C (p.Glu1557Ala) c.4223A>C (p.Glu1408Ala) c.3560A>C (p.Glu1187Ala) c.8075A>C (p.Glu2692Ala) | |
5 | g.13770882C>A | CA359204826 | DNAH5 | c.9472G>T (p.Glu3158Ter) c.9427G>T (p.Glu3143Ter) n.184G>T c.9580G>T (p.Glu3194Ter) c.8485G>T (p.Glu2829Ter) c.4669G>T (p.Glu1557Ter) c.4222G>T (p.Glu1408Ter) c.3559G>T (p.Glu1187Ter) c.8074G>T (p.Glu2692Ter) | |
5 | g.13770882C= | CA1528431223 | DNAH5 | c.9472G= (p.Glu3158=) c.9427G= (p.Glu3143=) n.184G= c.9580G= (p.Glu3194=) c.8485G= (p.Glu2829=) c.4669G= (p.Glu1557=) c.4222G= (p.Glu1408=) c.3559G= (p.Glu1187=) c.8074G= (p.Glu2692=) | |
5 | g.13770882C>G | CA359204828 | DNAH5 | c.9472G>C (p.Glu3158Gln) c.9427G>C (p.Glu3143Gln) n.184G>C c.9580G>C (p.Glu3194Gln) c.8485G>C (p.Glu2829Gln) c.4669G>C (p.Glu1557Gln) c.4222G>C (p.Glu1408Gln) c.3559G>C (p.Glu1187Gln) c.8074G>C (p.Glu2692Gln) | |
5 | g.13770882C>T | CA113933049 | DNAH5 | c.9472G>A (p.Glu3158Lys) c.9427G>A (p.Glu3143Lys) n.184G>A c.9580G>A (p.Glu3194Lys) c.8485G>A (p.Glu2829Lys) c.4669G>A (p.Glu1557Lys) c.4222G>A (p.Glu1408Lys) c.3559G>A (p.Glu1187Lys) c.8074G>A (p.Glu2692Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770883A>C | CA443535652 | DNAH5 | c.9471T>G (p.Ala3157=) c.9426T>G (p.Ala3142=) n.183T>G c.9579T>G (p.Ala3193=) c.8484T>G (p.Ala2828=) c.4668T>G (p.Ala1556=) c.4221T>G (p.Ala1407=) c.3558T>G (p.Ala1186=) c.8073T>G (p.Ala2691=) | gnomAD v4 |
5 | g.13770883A>G | CA443535653 | DNAH5 | c.9471T>C (p.Ala3157=) c.9426T>C (p.Ala3142=) n.183T>C c.9579T>C (p.Ala3193=) c.8484T>C (p.Ala2828=) c.4668T>C (p.Ala1556=) c.4221T>C (p.Ala1407=) c.3558T>C (p.Ala1186=) c.8073T>C (p.Ala2691=) | |
5 | g.13770883A>T | CA443535654 | DNAH5 | c.9471T>A (p.Ala3157=) c.9426T>A (p.Ala3142=) n.183T>A c.9579T>A (p.Ala3193=) c.8484T>A (p.Ala2828=) c.4668T>A (p.Ala1556=) c.4221T>A (p.Ala1407=) c.3558T>A (p.Ala1186=) c.8073T>A (p.Ala2691=) | |
5 | g.13770884G>A | CA3202541 | DNAH5 | c.9470C>T (p.Ala3157Val) c.9425C>T (p.Ala3142Val) n.182C>T c.9578C>T (p.Ala3193Val) c.8483C>T (p.Ala2828Val) c.4667C>T (p.Ala1556Val) c.4220C>T (p.Ala1407Val) c.3557C>T (p.Ala1186Val) c.8072C>T (p.Ala2691Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770884G>C | CA359204835 | DNAH5 | c.9470C>G (p.Ala3157Gly) c.9425C>G (p.Ala3142Gly) n.182C>G c.9578C>G (p.Ala3193Gly) c.8483C>G (p.Ala2828Gly) c.4667C>G (p.Ala1556Gly) c.4220C>G (p.Ala1407Gly) c.3557C>G (p.Ala1186Gly) c.8072C>G (p.Ala2691Gly) | |
5 | g.13770884G= | CA1528431224 | DNAH5 | c.9470C= (p.Ala3157=) c.9425C= (p.Ala3142=) n.182C= c.9578C= (p.Ala3193=) c.8483C= (p.Ala2828=) c.4667C= (p.Ala1556=) c.4220C= (p.Ala1407=) c.3557C= (p.Ala1186=) c.8072C= (p.Ala2691=) | |
5 | g.13770884G>T | CA113933058 | DNAH5 | c.9470C>A (p.Ala3157Asp) c.9425C>A (p.Ala3142Asp) n.182C>A c.9578C>A (p.Ala3193Asp) c.8483C>A (p.Ala2828Asp) c.4667C>A (p.Ala1556Asp) c.4220C>A (p.Ala1407Asp) c.3557C>A (p.Ala1186Asp) c.8072C>A (p.Ala2691Asp) | dbSNP gnomAD v4 |
5 | g.13770885C>A | CA359204836 | DNAH5 | c.9469G>T (p.Ala3157Ser) c.9424G>T (p.Ala3142Ser) n.181G>T c.9577G>T (p.Ala3193Ser) c.8482G>T (p.Ala2828Ser) c.4666G>T (p.Ala1556Ser) c.4219G>T (p.Ala1407Ser) c.3556G>T (p.Ala1186Ser) c.8071G>T (p.Ala2691Ser) | |
5 | g.13770885C>G | CA359204838 | DNAH5 | c.9469G>C (p.Ala3157Pro) c.9424G>C (p.Ala3142Pro) n.181G>C c.9577G>C (p.Ala3193Pro) c.8482G>C (p.Ala2828Pro) c.4666G>C (p.Ala1556Pro) c.4219G>C (p.Ala1407Pro) c.3556G>C (p.Ala1186Pro) c.8071G>C (p.Ala2691Pro) | |
5 | g.13770885C>T | CA359204837 | DNAH5 | c.9469G>A (p.Ala3157Thr) c.9424G>A (p.Ala3142Thr) n.181G>A c.9577G>A (p.Ala3193Thr) c.8482G>A (p.Ala2828Thr) c.4666G>A (p.Ala1556Thr) c.4219G>A (p.Ala1407Thr) c.3556G>A (p.Ala1186Thr) c.8071G>A (p.Ala2691Thr) | gnomAD v4 |
5 | g.13770886C>A | CA443535659 | DNAH5 | c.9468G>T (p.Val3156=) c.9423G>T (p.Val3141=) n.180G>T c.9576G>T (p.Val3192=) c.8481G>T (p.Val2827=) c.4665G>T (p.Val1555=) c.4218G>T (p.Val1406=) c.3555G>T (p.Val1185=) c.8070G>T (p.Val2690=) | |
5 | g.13770886C>G | CA443535660 | DNAH5 | c.9468G>C (p.Val3156=) c.9423G>C (p.Val3141=) n.180G>C c.9576G>C (p.Val3192=) c.8481G>C (p.Val2827=) c.4665G>C (p.Val1555=) c.4218G>C (p.Val1406=) c.3555G>C (p.Val1185=) c.8070G>C (p.Val2690=) | |
5 | g.13770886C>T | CA443535661 | DNAH5 | c.9468G>A (p.Val3156=) c.9423G>A (p.Val3141=) n.180G>A c.9576G>A (p.Val3192=) c.8481G>A (p.Val2827=) c.4665G>A (p.Val1555=) c.4218G>A (p.Val1406=) c.3555G>A (p.Val1185=) c.8070G>A (p.Val2690=) | gnomAD v4 |
5 | g.13770887A= | CA1528431225 | DNAH5 | c.9467T= (p.Val3156=) c.9422T= (p.Val3141=) n.179T= c.9575T= (p.Val3192=) c.8480T= (p.Val2827=) c.4664T= (p.Val1555=) c.4217T= (p.Val1406=) c.3554T= (p.Val1185=) c.8069T= (p.Val2690=) | |
5 | g.13770887A>C | CA359204841 | DNAH5 | c.9467T>G (p.Val3156Gly) c.9422T>G (p.Val3141Gly) n.179T>G c.9575T>G (p.Val3192Gly) c.8480T>G (p.Val2827Gly) c.4664T>G (p.Val1555Gly) c.4217T>G (p.Val1406Gly) c.3554T>G (p.Val1185Gly) c.8069T>G (p.Val2690Gly) | |
5 | g.13770887A>G | CA359204850 | DNAH5 | c.9467T>C (p.Val3156Ala) c.9422T>C (p.Val3141Ala) n.179T>C c.9575T>C (p.Val3192Ala) c.8480T>C (p.Val2827Ala) c.4664T>C (p.Val1555Ala) c.4217T>C (p.Val1406Ala) c.3554T>C (p.Val1185Ala) c.8069T>C (p.Val2690Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770887A>T | CA359204853 | DNAH5 | c.9467T>A (p.Val3156Glu) c.9422T>A (p.Val3141Glu) n.179T>A c.9575T>A (p.Val3192Glu) c.8480T>A (p.Val2827Glu) c.4664T>A (p.Val1555Glu) c.4217T>A (p.Val1406Glu) c.3554T>A (p.Val1185Glu) c.8069T>A (p.Val2690Glu) | |
5 | g.13770888C>A | CA359204858 | DNAH5 | c.9466G>T (p.Val3156Leu) c.9421G>T (p.Val3141Leu) n.178G>T c.9574G>T (p.Val3192Leu) c.8479G>T (p.Val2827Leu) c.4663G>T (p.Val1555Leu) c.4216G>T (p.Val1406Leu) c.3553G>T (p.Val1185Leu) c.8068G>T (p.Val2690Leu) | |
5 | g.13770888C>G | CA359204859 | DNAH5 | c.9466G>C (p.Val3156Leu) c.9421G>C (p.Val3141Leu) n.178G>C c.9574G>C (p.Val3192Leu) c.8479G>C (p.Val2827Leu) c.4663G>C (p.Val1555Leu) c.4216G>C (p.Val1406Leu) c.3553G>C (p.Val1185Leu) c.8068G>C (p.Val2690Leu) | |
5 | g.13770888C>T | CA359204861 | DNAH5 | c.9466G>A (p.Val3156Met) c.9421G>A (p.Val3141Met) n.178G>A c.9574G>A (p.Val3192Met) c.8479G>A (p.Val2827Met) c.4663G>A (p.Val1555Met) c.4216G>A (p.Val1406Met) c.3553G>A (p.Val1185Met) c.8068G>A (p.Val2690Met) | gnomAD v4 |
5 | g.13770890_13770891del | CA2580072363 | DNAH5 | c.9465_9466del (p.Val3156GlyfsTer2) c.9420_9421del (p.Val3141GlyfsTer2) n.177_178del c.9573_9574del (p.Val3192GlyfsTer2) c.8478_8479del (p.Val2827GlyfsTer2) c.4662_4663del (p.Val1555GlyfsTer2) c.4215_4216del (p.Val1406GlyfsTer2) c.3552_3553del (p.Val1185GlyfsTer2) c.8067_8068del (p.Val2690GlyfsTer2) | ClinVar |
5 | g.13770889C>A | CA443535671 | DNAH5 | c.9465G>T (p.Gly3155=) c.9420G>T (p.Gly3140=) n.177G>T c.9573G>T (p.Gly3191=) c.8478G>T (p.Gly2826=) c.4662G>T (p.Gly1554=) c.4215G>T (p.Gly1405=) c.3552G>T (p.Gly1184=) c.8067G>T (p.Gly2689=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770889C= | CA1528431226 | DNAH5 | c.9465G= (p.Gly3155=) c.9420G= (p.Gly3140=) n.177G= c.9573G= (p.Gly3191=) c.8478G= (p.Gly2826=) c.4662G= (p.Gly1554=) c.4215G= (p.Gly1405=) c.3552G= (p.Gly1184=) c.8067G= (p.Gly2689=) | |
5 | g.13770889C>G | CA443535669 | DNAH5 | c.9465G>C (p.Gly3155=) c.9420G>C (p.Gly3140=) n.177G>C c.9573G>C (p.Gly3191=) c.8478G>C (p.Gly2826=) c.4662G>C (p.Gly1554=) c.4215G>C (p.Gly1405=) c.3552G>C (p.Gly1184=) c.8067G>C (p.Gly2689=) | gnomAD v4 |
5 | g.13770889C>T | CA443535668 | DNAH5 | c.9465G>A (p.Gly3155=) c.9420G>A (p.Gly3140=) n.177G>A c.9573G>A (p.Gly3191=) c.8478G>A (p.Gly2826=) c.4662G>A (p.Gly1554=) c.4215G>A (p.Gly1405=) c.3552G>A (p.Gly1184=) c.8067G>A (p.Gly2689=) | ClinVar gnomAD v4 |
5 | g.13770890C>A | CA359204863 | DNAH5 | c.9464G>T (p.Gly3155Val) c.9419G>T (p.Gly3140Val) n.176G>T c.9572G>T (p.Gly3191Val) c.8477G>T (p.Gly2826Val) c.4661G>T (p.Gly1554Val) c.4214G>T (p.Gly1405Val) c.3551G>T (p.Gly1184Val) c.8066G>T (p.Gly2689Val) | gnomAD v3 gnomAD v4 |
5 | g.13770890C>G | CA359204865 | DNAH5 | c.9464G>C (p.Gly3155Ala) c.9419G>C (p.Gly3140Ala) n.176G>C c.9572G>C (p.Gly3191Ala) c.8477G>C (p.Gly2826Ala) c.4661G>C (p.Gly1554Ala) c.4214G>C (p.Gly1405Ala) c.3551G>C (p.Gly1184Ala) c.8066G>C (p.Gly2689Ala) | |
5 | g.13770890C>T | CA359204870 | DNAH5 | c.9464G>A (p.Gly3155Glu) c.9419G>A (p.Gly3140Glu) n.176G>A c.9572G>A (p.Gly3191Glu) c.8477G>A (p.Gly2826Glu) c.4661G>A (p.Gly1554Glu) c.4214G>A (p.Gly1405Glu) c.3551G>A (p.Gly1184Glu) c.8066G>A (p.Gly2689Glu) | |
5 | g.13770891C>A | CA359204873 | DNAH5 | c.9463G>T (p.Gly3155Trp) c.9418G>T (p.Gly3140Trp) n.175G>T c.9571G>T (p.Gly3191Trp) c.8476G>T (p.Gly2826Trp) c.4660G>T (p.Gly1554Trp) c.4213G>T (p.Gly1405Trp) c.3550G>T (p.Gly1184Trp) c.8065G>T (p.Gly2689Trp) | COSMIC |
5 | g.13770891C= | CA1528431227 | DNAH5 | c.9463G= (p.Gly3155=) c.9418G= (p.Gly3140=) n.175G= c.9571G= (p.Gly3191=) c.8476G= (p.Gly2826=) c.4660G= (p.Gly1554=) c.4213G= (p.Gly1405=) c.3550G= (p.Gly1184=) c.8065G= (p.Gly2689=) | |
5 | g.13770891C>G | CA359204877 | DNAH5 | c.9463G>C (p.Gly3155Arg) c.9418G>C (p.Gly3140Arg) n.175G>C c.9571G>C (p.Gly3191Arg) c.8476G>C (p.Gly2826Arg) c.4660G>C (p.Gly1554Arg) c.4213G>C (p.Gly1405Arg) c.3550G>C (p.Gly1184Arg) c.8065G>C (p.Gly2689Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770891C>T | CA359204872 | DNAH5 | c.9463G>A (p.Gly3155Arg) c.9418G>A (p.Gly3140Arg) n.175G>A c.9571G>A (p.Gly3191Arg) c.8476G>A (p.Gly2826Arg) c.4660G>A (p.Gly1554Arg) c.4213G>A (p.Gly1405Arg) c.3550G>A (p.Gly1184Arg) c.8065G>A (p.Gly2689Arg) | |
5 | g.13770892A>C | CA359204879 | DNAH5 | c.9462T>G (p.Asp3154Glu) c.9417T>G (p.Asp3139Glu) n.174T>G c.9570T>G (p.Asp3190Glu) c.8475T>G (p.Asp2825Glu) c.4659T>G (p.Asp1553Glu) c.4212T>G (p.Asp1404Glu) c.3549T>G (p.Asp1183Glu) c.8064T>G (p.Asp2688Glu) | |
5 | g.13770892A>G | CA443535678 | DNAH5 | c.9462T>C (p.Asp3154=) c.9417T>C (p.Asp3139=) n.174T>C c.9570T>C (p.Asp3190=) c.8475T>C (p.Asp2825=) c.4659T>C (p.Asp1553=) c.4212T>C (p.Asp1404=) c.3549T>C (p.Asp1183=) c.8064T>C (p.Asp2688=) | |
5 | g.13770892A>T | CA359204880 | DNAH5 | c.9462T>A (p.Asp3154Glu) c.9417T>A (p.Asp3139Glu) n.174T>A c.9570T>A (p.Asp3190Glu) c.8475T>A (p.Asp2825Glu) c.4659T>A (p.Asp1553Glu) c.4212T>A (p.Asp1404Glu) c.3549T>A (p.Asp1183Glu) c.8064T>A (p.Asp2688Glu) | |
5 | g.13770893T>A | CA359204881 | DNAH5 | c.9461A>T (p.Asp3154Val) c.9416A>T (p.Asp3139Val) n.173A>T c.9569A>T (p.Asp3190Val) c.8474A>T (p.Asp2825Val) c.4658A>T (p.Asp1553Val) c.4211A>T (p.Asp1404Val) c.3548A>T (p.Asp1183Val) c.8063A>T (p.Asp2688Val) | |
5 | g.13770893T>C | CA359204882 | DNAH5 | c.9461A>G (p.Asp3154Gly) c.9416A>G (p.Asp3139Gly) n.173A>G c.9569A>G (p.Asp3190Gly) c.8474A>G (p.Asp2825Gly) c.4658A>G (p.Asp1553Gly) c.4211A>G (p.Asp1404Gly) c.3548A>G (p.Asp1183Gly) c.8063A>G (p.Asp2688Gly) | |
5 | g.13770893T>G | CA3202542 | DNAH5 | c.9461A>C (p.Asp3154Ala) c.9416A>C (p.Asp3139Ala) n.173A>C c.9569A>C (p.Asp3190Ala) c.8474A>C (p.Asp2825Ala) c.4658A>C (p.Asp1553Ala) c.4211A>C (p.Asp1404Ala) c.3548A>C (p.Asp1183Ala) c.8063A>C (p.Asp2688Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770893T= | CA1528431228 | DNAH5 | c.9461A= (p.Asp3154=) c.9416A= (p.Asp3139=) n.173A= c.9569A= (p.Asp3190=) c.8474A= (p.Asp2825=) c.4658A= (p.Asp1553=) c.4211A= (p.Asp1404=) c.3548A= (p.Asp1183=) c.8063A= (p.Asp2688=) | |
5 | g.13770893_13770894insAGAAAAAC | CA2695204136 | DNAH5 | c.9460_9461insGTTTTTCT (p.Asp3154GlyfsTer23) c.9415_9416insGTTTTTCT (p.Asp3139GlyfsTer23) n.172_173insGTTTTTCT c.9568_9569insGTTTTTCT (p.Asp3190GlyfsTer23) c.8473_8474insGTTTTTCT (p.Asp2825GlyfsTer23) c.4657_4658insGTTTTTCT (p.Asp1553GlyfsTer23) c.4210_4211insGTTTTTCT (p.Asp1404GlyfsTer23) c.3547_3548insGTTTTTCT (p.Asp1183GlyfsTer23) c.8062_8063insGTTTTTCT (p.Asp2688GlyfsTer23) | |
5 | g.13770894C>A | CA359204884 | DNAH5 | c.9460G>T (p.Asp3154Tyr) c.9415G>T (p.Asp3139Tyr) n.172G>T c.9568G>T (p.Asp3190Tyr) c.8473G>T (p.Asp2825Tyr) c.4657G>T (p.Asp1553Tyr) c.4210G>T (p.Asp1404Tyr) c.3547G>T (p.Asp1183Tyr) c.8062G>T (p.Asp2688Tyr) | |
5 | g.13770894C>G | CA359204893 | DNAH5 | c.9460G>C (p.Asp3154His) c.9415G>C (p.Asp3139His) n.172G>C c.9568G>C (p.Asp3190His) c.8473G>C (p.Asp2825His) c.4657G>C (p.Asp1553His) c.4210G>C (p.Asp1404His) c.3547G>C (p.Asp1183His) c.8062G>C (p.Asp2688His) | |
5 | g.13770894C>T | CA359204895 | DNAH5 | c.9460G>A (p.Asp3154Asn) c.9415G>A (p.Asp3139Asn) n.172G>A c.9568G>A (p.Asp3190Asn) c.8473G>A (p.Asp2825Asn) c.4657G>A (p.Asp1553Asn) c.4210G>A (p.Asp1404Asn) c.3547G>A (p.Asp1183Asn) c.8062G>A (p.Asp2688Asn) | COSMIC |
5 | g.13770895C>A | CA359204899 | DNAH5 | c.9459G>T (p.Gln3153His) c.9414G>T (p.Gln3138His) n.171G>T c.9567G>T (p.Gln3189His) c.8472G>T (p.Gln2824His) c.4656G>T (p.Gln1552His) c.4209G>T (p.Gln1403His) c.3546G>T (p.Gln1182His) c.8061G>T (p.Gln2687His) | |
5 | g.13770895C= | CA1528431229 | DNAH5 | c.9459G= (p.Gln3153=) c.9414G= (p.Gln3138=) n.171G= c.9567G= (p.Gln3189=) c.8472G= (p.Gln2824=) c.4656G= (p.Gln1552=) c.4209G= (p.Gln1403=) c.3546G= (p.Gln1182=) c.8061G= (p.Gln2687=) | |
5 | g.13770895C>G | CA359204902 | DNAH5 | c.9459G>C (p.Gln3153His) c.9414G>C (p.Gln3138His) n.171G>C c.9567G>C (p.Gln3189His) c.8472G>C (p.Gln2824His) c.4656G>C (p.Gln1552His) c.4209G>C (p.Gln1403His) c.3546G>C (p.Gln1182His) c.8061G>C (p.Gln2687His) | |
5 | g.13770895C>T | CA113933064 | DNAH5 | c.9459G>A (p.Gln3153=) c.9414G>A (p.Gln3138=) n.171G>A c.9567G>A (p.Gln3189=) c.8472G>A (p.Gln2824=) c.4656G>A (p.Gln1552=) c.4209G>A (p.Gln1403=) c.3546G>A (p.Gln1182=) c.8061G>A (p.Gln2687=) | dbSNP |
5 | g.13770896T>A | CA359204907 | DNAH5 | c.9458A>T (p.Gln3153Leu) c.9413A>T (p.Gln3138Leu) n.170A>T c.9566A>T (p.Gln3189Leu) c.8471A>T (p.Gln2824Leu) c.4655A>T (p.Gln1552Leu) c.4208A>T (p.Gln1403Leu) c.3545A>T (p.Gln1182Leu) c.8060A>T (p.Gln2687Leu) | |
5 | g.13770896T>C | CA359204908 | DNAH5 | c.9458A>G (p.Gln3153Arg) c.9413A>G (p.Gln3138Arg) n.170A>G c.9566A>G (p.Gln3189Arg) c.8471A>G (p.Gln2824Arg) c.4655A>G (p.Gln1552Arg) c.4208A>G (p.Gln1403Arg) c.3545A>G (p.Gln1182Arg) c.8060A>G (p.Gln2687Arg) | |
5 | g.13770896T>G | CA359204906 | DNAH5 | c.9458A>C (p.Gln3153Pro) c.9413A>C (p.Gln3138Pro) n.170A>C c.9566A>C (p.Gln3189Pro) c.8471A>C (p.Gln2824Pro) c.4655A>C (p.Gln1552Pro) c.4208A>C (p.Gln1403Pro) c.3545A>C (p.Gln1182Pro) c.8060A>C (p.Gln2687Pro) | |
5 | g.13770897G>A | CA359204909 | DNAH5 | c.9457C>T (p.Gln3153Ter) c.9412C>T (p.Gln3138Ter) n.169C>T c.9565C>T (p.Gln3189Ter) c.8470C>T (p.Gln2824Ter) c.4654C>T (p.Gln1552Ter) c.4207C>T (p.Gln1403Ter) c.3544C>T (p.Gln1182Ter) c.8059C>T (p.Gln2687Ter) | |
5 | g.13770897G>C | CA359204911 | DNAH5 | c.9457C>G (p.Gln3153Glu) c.9412C>G (p.Gln3138Glu) n.169C>G c.9565C>G (p.Gln3189Glu) c.8470C>G (p.Gln2824Glu) c.4654C>G (p.Gln1552Glu) c.4207C>G (p.Gln1403Glu) c.3544C>G (p.Gln1182Glu) c.8059C>G (p.Gln2687Glu) | |
5 | g.13770897G>T | CA359204912 | DNAH5 | c.9457C>A (p.Gln3153Lys) c.9412C>A (p.Gln3138Lys) n.169C>A c.9565C>A (p.Gln3189Lys) c.8470C>A (p.Gln2824Lys) c.4654C>A (p.Gln1552Lys) c.4207C>A (p.Gln1403Lys) c.3544C>A (p.Gln1182Lys) c.8059C>A (p.Gln2687Lys) | |
5 | g.13770898G>A | CA443535682 | DNAH5 | c.9456C>T (p.Phe3152=) c.9411C>T (p.Phe3137=) n.168C>T c.9564C>T (p.Phe3188=) c.8469C>T (p.Phe2823=) c.4653C>T (p.Phe1551=) c.4206C>T (p.Phe1402=) c.3543C>T (p.Phe1181=) c.8058C>T (p.Phe2686=) | |
5 | g.13770898G>C | CA359204915 | DNAH5 | c.9456C>G (p.Phe3152Leu) c.9411C>G (p.Phe3137Leu) n.168C>G c.9564C>G (p.Phe3188Leu) c.8469C>G (p.Phe2823Leu) c.4653C>G (p.Phe1551Leu) c.4206C>G (p.Phe1402Leu) c.3543C>G (p.Phe1181Leu) c.8058C>G (p.Phe2686Leu) | |
5 | g.13770898G>T | CA359204918 | DNAH5 | c.9456C>A (p.Phe3152Leu) c.9411C>A (p.Phe3137Leu) n.168C>A c.9564C>A (p.Phe3188Leu) c.8469C>A (p.Phe2823Leu) c.4653C>A (p.Phe1551Leu) c.4206C>A (p.Phe1402Leu) c.3543C>A (p.Phe1181Leu) c.8058C>A (p.Phe2686Leu) | |
5 | g.13770899A>C | CA359204931 | DNAH5 | c.9455T>G (p.Phe3152Cys) c.9410T>G (p.Phe3137Cys) n.167T>G c.9563T>G (p.Phe3188Cys) c.8468T>G (p.Phe2823Cys) c.4652T>G (p.Phe1551Cys) c.4205T>G (p.Phe1402Cys) c.3542T>G (p.Phe1181Cys) c.8057T>G (p.Phe2686Cys) | |
5 | g.13770899A>G | CA359204926 | DNAH5 | c.9455T>C (p.Phe3152Ser) c.9410T>C (p.Phe3137Ser) n.167T>C c.9563T>C (p.Phe3188Ser) c.8468T>C (p.Phe2823Ser) c.4652T>C (p.Phe1551Ser) c.4205T>C (p.Phe1402Ser) c.3542T>C (p.Phe1181Ser) c.8057T>C (p.Phe2686Ser) | |
5 | g.13770899A>T | CA359204928 | DNAH5 | c.9455T>A (p.Phe3152Tyr) c.9410T>A (p.Phe3137Tyr) n.167T>A c.9563T>A (p.Phe3188Tyr) c.8468T>A (p.Phe2823Tyr) c.4652T>A (p.Phe1551Tyr) c.4205T>A (p.Phe1402Tyr) c.3542T>A (p.Phe1181Tyr) c.8057T>A (p.Phe2686Tyr) | |
5 | g.13770900A>C | CA359204934 | DNAH5 | c.9454T>G (p.Phe3152Val) c.9409T>G (p.Phe3137Val) n.166T>G c.9562T>G (p.Phe3188Val) c.8467T>G (p.Phe2823Val) c.4651T>G (p.Phe1551Val) c.4204T>G (p.Phe1402Val) c.3541T>G (p.Phe1181Val) c.8056T>G (p.Phe2686Val) | |
5 | g.13770900A>G | CA359204937 | DNAH5 | c.9454T>C (p.Phe3152Leu) c.9409T>C (p.Phe3137Leu) n.166T>C c.9562T>C (p.Phe3188Leu) c.8467T>C (p.Phe2823Leu) c.4651T>C (p.Phe1551Leu) c.4204T>C (p.Phe1402Leu) c.3541T>C (p.Phe1181Leu) c.8056T>C (p.Phe2686Leu) | |
5 | g.13770900A>T | CA359204938 | DNAH5 | c.9454T>A (p.Phe3152Ile) c.9409T>A (p.Phe3137Ile) n.166T>A c.9562T>A (p.Phe3188Ile) c.8467T>A (p.Phe2823Ile) c.4651T>A (p.Phe1551Ile) c.4204T>A (p.Phe1402Ile) c.3541T>A (p.Phe1181Ile) c.8056T>A (p.Phe2686Ile) | |
5 | g.13770901G>A | CA443535687 | DNAH5 | c.9453C>T (p.Ser3151=) c.9408C>T (p.Ser3136=) n.165C>T c.9561C>T (p.Ser3187=) c.8466C>T (p.Ser2822=) c.4650C>T (p.Ser1550=) c.4203C>T (p.Ser1401=) c.3540C>T (p.Ser1180=) c.8055C>T (p.Ser2685=) | dbSNP COSMIC |
5 | g.13770901G>C | CA443535689 | DNAH5 | c.9453C>G (p.Ser3151=) c.9408C>G (p.Ser3136=) n.165C>G c.9561C>G (p.Ser3187=) c.8466C>G (p.Ser2822=) c.4650C>G (p.Ser1550=) c.4203C>G (p.Ser1401=) c.3540C>G (p.Ser1180=) c.8055C>G (p.Ser2685=) | |
5 | g.13770901G= | CA1528431230 | DNAH5 | c.9453C= (p.Ser3151=) c.9408C= (p.Ser3136=) n.165C= c.9561C= (p.Ser3187=) c.8466C= (p.Ser2822=) c.4650C= (p.Ser1550=) c.4203C= (p.Ser1401=) c.3540C= (p.Ser1180=) c.8055C= (p.Ser2685=) | |
5 | g.13770901G>T | CA443535690 | DNAH5 | c.9453C>A (p.Ser3151=) c.9408C>A (p.Ser3136=) n.165C>A c.9561C>A (p.Ser3187=) c.8466C>A (p.Ser2822=) c.4650C>A (p.Ser1550=) c.4203C>A (p.Ser1401=) c.3540C>A (p.Ser1180=) c.8055C>A (p.Ser2685=) | |
5 | g.13770902G>A | CA359204942 | DNAH5 | c.9452C>T (p.Ser3151Phe) c.9407C>T (p.Ser3136Phe) n.164C>T c.9560C>T (p.Ser3187Phe) c.8465C>T (p.Ser2822Phe) c.4649C>T (p.Ser1550Phe) c.4202C>T (p.Ser1401Phe) c.3539C>T (p.Ser1180Phe) c.8054C>T (p.Ser2685Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770902G>C | CA359204944 | DNAH5 | c.9452C>G (p.Ser3151Cys) c.9407C>G (p.Ser3136Cys) n.164C>G c.9560C>G (p.Ser3187Cys) c.8465C>G (p.Ser2822Cys) c.4649C>G (p.Ser1550Cys) c.4202C>G (p.Ser1401Cys) c.3539C>G (p.Ser1180Cys) c.8054C>G (p.Ser2685Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770902G= | CA1528431231 | DNAH5 | c.9452C= (p.Ser3151=) c.9407C= (p.Ser3136=) n.164C= c.9560C= (p.Ser3187=) c.8465C= (p.Ser2822=) c.4649C= (p.Ser1550=) c.4202C= (p.Ser1401=) c.3539C= (p.Ser1180=) c.8054C= (p.Ser2685=) | |
5 | g.13770902G>T | CA359204951 | DNAH5 | c.9452C>A (p.Ser3151Tyr) c.9407C>A (p.Ser3136Tyr) n.164C>A c.9560C>A (p.Ser3187Tyr) c.8465C>A (p.Ser2822Tyr) c.4649C>A (p.Ser1550Tyr) c.4202C>A (p.Ser1401Tyr) c.3539C>A (p.Ser1180Tyr) c.8054C>A (p.Ser2685Tyr) | |
5 | g.13770903A= | CA1528431232 | DNAH5 | c.9451T= (p.Ser3151=) c.9406T= (p.Ser3136=) n.163T= c.9559T= (p.Ser3187=) c.8464T= (p.Ser2822=) c.4648T= (p.Ser1550=) c.4201T= (p.Ser1401=) c.3538T= (p.Ser1180=) c.8053T= (p.Ser2685=) | |
5 | g.13770903A>C | CA359204959 | DNAH5 | c.9451T>G (p.Ser3151Ala) c.9406T>G (p.Ser3136Ala) n.163T>G c.9559T>G (p.Ser3187Ala) c.8464T>G (p.Ser2822Ala) c.4648T>G (p.Ser1550Ala) c.4201T>G (p.Ser1401Ala) c.3538T>G (p.Ser1180Ala) c.8053T>G (p.Ser2685Ala) | |
5 | g.13770903A>G | CA359204960 | DNAH5 | c.9451T>C (p.Ser3151Pro) c.9406T>C (p.Ser3136Pro) n.163T>C c.9559T>C (p.Ser3187Pro) c.8464T>C (p.Ser2822Pro) c.4648T>C (p.Ser1550Pro) c.4201T>C (p.Ser1401Pro) c.3538T>C (p.Ser1180Pro) c.8053T>C (p.Ser2685Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770903A>T | CA359204953 | DNAH5 | c.9451T>A (p.Ser3151Thr) c.9406T>A (p.Ser3136Thr) n.163T>A c.9559T>A (p.Ser3187Thr) c.8464T>A (p.Ser2822Thr) c.4648T>A (p.Ser1550Thr) c.4201T>A (p.Ser1401Thr) c.3538T>A (p.Ser1180Thr) c.8053T>A (p.Ser2685Thr) | |
5 | g.13770904G>A | CA443535692 | DNAH5 | c.9450C>T (p.Gly3150=) c.9405C>T (p.Gly3135=) n.162C>T c.9558C>T (p.Gly3186=) c.8463C>T (p.Gly2821=) c.4647C>T (p.Gly1549=) c.4200C>T (p.Gly1400=) c.3537C>T (p.Gly1179=) c.8052C>T (p.Gly2684=) | ClinVar |
5 | g.13770904G>C | CA443535693 | DNAH5 | c.9450C>G (p.Gly3150=) c.9405C>G (p.Gly3135=) n.162C>G c.9558C>G (p.Gly3186=) c.8463C>G (p.Gly2821=) c.4647C>G (p.Gly1549=) c.4200C>G (p.Gly1400=) c.3537C>G (p.Gly1179=) c.8052C>G (p.Gly2684=) | |
5 | g.13770904G>T | CA443535694 | DNAH5 | c.9450C>A (p.Gly3150=) c.9405C>A (p.Gly3135=) n.162C>A c.9558C>A (p.Gly3186=) c.8463C>A (p.Gly2821=) c.4647C>A (p.Gly1549=) c.4200C>A (p.Gly1400=) c.3537C>A (p.Gly1179=) c.8052C>A (p.Gly2684=) | gnomAD v4 |
5 | g.13770904_13770905delinsGC | CA1528431233 | DNAH5 | c.9449_9450delinsGC (p.Gly3150=) c.9404_9405delinsGC (p.Gly3135=) n.161_162delinsGC c.9557_9558delinsGC (p.Gly3186=) c.8462_8463delinsGC (p.Gly2821=) c.4646_4647delinsGC (p.Gly1549=) c.4199_4200delinsGC (p.Gly1400=) c.3536_3537delinsGC (p.Gly1179=) c.8051_8052delinsGC (p.Gly2684=) | |
5 | g.13770905C>A | CA359204962 | DNAH5 | c.9449G>T (p.Gly3150Val) c.9404G>T (p.Gly3135Val) n.161G>T c.9557G>T (p.Gly3186Val) c.8462G>T (p.Gly2821Val) c.4646G>T (p.Gly1549Val) c.4199G>T (p.Gly1400Val) c.3536G>T (p.Gly1179Val) c.8051G>T (p.Gly2684Val) | |
5 | g.13770905C>G | CA359204965 | DNAH5 | c.9449G>C (p.Gly3150Ala) c.9404G>C (p.Gly3135Ala) n.161G>C c.9557G>C (p.Gly3186Ala) c.8462G>C (p.Gly2821Ala) c.4646G>C (p.Gly1549Ala) c.4199G>C (p.Gly1400Ala) c.3536G>C (p.Gly1179Ala) c.8051G>C (p.Gly2684Ala) | |
5 | g.13770905C>T | CA359204970 | DNAH5 | c.9449G>A (p.Gly3150Asp) c.9404G>A (p.Gly3135Asp) n.161G>A c.9557G>A (p.Gly3186Asp) c.8462G>A (p.Gly2821Asp) c.4646G>A (p.Gly1549Asp) c.4199G>A (p.Gly1400Asp) c.3536G>A (p.Gly1179Asp) c.8051G>A (p.Gly2684Asp) | |
5 | g.13770907del | CA273615 | DNAH5 | c.9449del (p.Gly3150AlafsTer24) c.9404del (p.Gly3135AlafsTer24) n.161del c.9557del (p.Gly3186AlafsTer24) c.8462del (p.Gly2821AlafsTer24) c.4646del (p.Gly1549AlafsTer24) c.4199del (p.Gly1400AlafsTer24) c.3536del (p.Gly1179AlafsTer24) c.8051del (p.Gly2684AlafsTer24) | ClinVar dbSNP |
5 | g.13770906C>A | CA359204974 | DNAH5 | c.9448G>T (p.Gly3150Cys) c.9403G>T (p.Gly3135Cys) n.160G>T c.9556G>T (p.Gly3186Cys) c.8461G>T (p.Gly2821Cys) c.4645G>T (p.Gly1549Cys) c.4198G>T (p.Gly1400Cys) c.3535G>T (p.Gly1179Cys) c.8050G>T (p.Gly2684Cys) | |
5 | g.13770906C>G | CA359204977 | DNAH5 | c.9448G>C (p.Gly3150Arg) c.9403G>C (p.Gly3135Arg) n.160G>C c.9556G>C (p.Gly3186Arg) c.8461G>C (p.Gly2821Arg) c.4645G>C (p.Gly1549Arg) c.4198G>C (p.Gly1400Arg) c.3535G>C (p.Gly1179Arg) c.8050G>C (p.Gly2684Arg) | |
5 | g.13770906C>T | CA359204980 | DNAH5 | c.9448G>A (p.Gly3150Ser) c.9403G>A (p.Gly3135Ser) n.160G>A c.9556G>A (p.Gly3186Ser) c.8461G>A (p.Gly2821Ser) c.4645G>A (p.Gly1549Ser) c.4198G>A (p.Gly1400Ser) c.3535G>A (p.Gly1179Ser) c.8050G>A (p.Gly2684Ser) | |
5 | g.13770907C>A | CA359204981 | DNAH5 | c.9447G>T (p.Met3149Ile) c.9402G>T (p.Met3134Ile) n.159G>T c.9555G>T (p.Met3185Ile) c.8460G>T (p.Met2820Ile) c.4644G>T (p.Met1548Ile) c.4197G>T (p.Met1399Ile) c.3534G>T (p.Met1178Ile) c.8049G>T (p.Met2683Ile) | |
5 | g.13770907C>G | CA359204983 | DNAH5 | c.9447G>C (p.Met3149Ile) c.9402G>C (p.Met3134Ile) n.159G>C c.9555G>C (p.Met3185Ile) c.8460G>C (p.Met2820Ile) c.4644G>C (p.Met1548Ile) c.4197G>C (p.Met1399Ile) c.3534G>C (p.Met1178Ile) c.8049G>C (p.Met2683Ile) | |
5 | g.13770907C>T | CA359204985 | DNAH5 | c.9447G>A (p.Met3149Ile) c.9402G>A (p.Met3134Ile) n.159G>A c.9555G>A (p.Met3185Ile) c.8460G>A (p.Met2820Ile) c.4644G>A (p.Met1548Ile) c.4197G>A (p.Met1399Ile) c.3534G>A (p.Met1178Ile) c.8049G>A (p.Met2683Ile) | gnomAD v4 |
5 | g.13770908A>C | CA359204988 | DNAH5 | c.9446T>G (p.Met3149Arg) c.9401T>G (p.Met3134Arg) n.158T>G c.9554T>G (p.Met3185Arg) c.8459T>G (p.Met2820Arg) c.4643T>G (p.Met1548Arg) c.4196T>G (p.Met1399Arg) c.3533T>G (p.Met1178Arg) c.8048T>G (p.Met2683Arg) | |
5 | g.13770908A>G | CA359204990 | DNAH5 | c.9446T>C (p.Met3149Thr) c.9401T>C (p.Met3134Thr) n.158T>C c.9554T>C (p.Met3185Thr) c.8459T>C (p.Met2820Thr) c.4643T>C (p.Met1548Thr) c.4196T>C (p.Met1399Thr) c.3533T>C (p.Met1178Thr) c.8048T>C (p.Met2683Thr) | |
5 | g.13770908A>T | CA359204999 | DNAH5 | c.9446T>A (p.Met3149Lys) c.9401T>A (p.Met3134Lys) n.158T>A c.9554T>A (p.Met3185Lys) c.8459T>A (p.Met2820Lys) c.4643T>A (p.Met1548Lys) c.4196T>A (p.Met1399Lys) c.3533T>A (p.Met1178Lys) c.8048T>A (p.Met2683Lys) | |
5 | g.13770909T>A | CA359205007 | DNAH5 | c.9445A>T (p.Met3149Leu) c.9400A>T (p.Met3134Leu) n.157A>T c.9553A>T (p.Met3185Leu) c.8458A>T (p.Met2820Leu) c.4642A>T (p.Met1548Leu) c.4195A>T (p.Met1399Leu) c.3532A>T (p.Met1178Leu) c.8047A>T (p.Met2683Leu) | gnomAD v4 |
5 | g.13770909T>C | CA359205005 | DNAH5 | c.9445A>G (p.Met3149Val) c.9400A>G (p.Met3134Val) n.157A>G c.9553A>G (p.Met3185Val) c.8458A>G (p.Met2820Val) c.4642A>G (p.Met1548Val) c.4195A>G (p.Met1399Val) c.3532A>G (p.Met1178Val) c.8047A>G (p.Met2683Val) | |
5 | g.13770909T>G | CA359205002 | DNAH5 | c.9445A>C (p.Met3149Leu) c.9400A>C (p.Met3134Leu) n.157A>C c.9553A>C (p.Met3185Leu) c.8458A>C (p.Met2820Leu) c.4642A>C (p.Met1548Leu) c.4195A>C (p.Met1399Leu) c.3532A>C (p.Met1178Leu) c.8047A>C (p.Met2683Leu) | |
5 | g.13770910G>A | CA3202543 | DNAH5 | c.9444C>T (p.Cys3148=) c.9399C>T (p.Cys3133=) n.156C>T c.9552C>T (p.Cys3184=) c.8457C>T (p.Cys2819=) c.4641C>T (p.Cys1547=) c.4194C>T (p.Cys1398=) c.3531C>T (p.Cys1177=) c.8046C>T (p.Cys2682=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770910G>C | CA359205015 | DNAH5 | c.9444C>G (p.Cys3148Trp) c.9399C>G (p.Cys3133Trp) n.156C>G c.9552C>G (p.Cys3184Trp) c.8457C>G (p.Cys2819Trp) c.4641C>G (p.Cys1547Trp) c.4194C>G (p.Cys1398Trp) c.3531C>G (p.Cys1177Trp) c.8046C>G (p.Cys2682Trp) | gnomAD v4 |
5 | g.13770910G= | CA1528431234 | DNAH5 | c.9444C= (p.Cys3148=) c.9399C= (p.Cys3133=) n.156C= c.9552C= (p.Cys3184=) c.8457C= (p.Cys2819=) c.4641C= (p.Cys1547=) c.4194C= (p.Cys1398=) c.3531C= (p.Cys1177=) c.8046C= (p.Cys2682=) | |
5 | g.13770910G>T | CA359205019 | DNAH5 | c.9444C>A (p.Cys3148Ter) c.9399C>A (p.Cys3133Ter) n.156C>A c.9552C>A (p.Cys3184Ter) c.8457C>A (p.Cys2819Ter) c.4641C>A (p.Cys1547Ter) c.4194C>A (p.Cys1398Ter) c.3531C>A (p.Cys1177Ter) c.8046C>A (p.Cys2682Ter) | |
5 | g.13770911C>A | CA359205020 | DNAH5 | c.9443G>T (p.Cys3148Phe) c.9398G>T (p.Cys3133Phe) n.155G>T c.9551G>T (p.Cys3184Phe) c.8456G>T (p.Cys2819Phe) c.4640G>T (p.Cys1547Phe) c.4193G>T (p.Cys1398Phe) c.3530G>T (p.Cys1177Phe) c.8045G>T (p.Cys2682Phe) | gnomAD v4 |
5 | g.13770911C>G | CA359205023 | DNAH5 | c.9443G>C (p.Cys3148Ser) c.9398G>C (p.Cys3133Ser) n.155G>C c.9551G>C (p.Cys3184Ser) c.8456G>C (p.Cys2819Ser) c.4640G>C (p.Cys1547Ser) c.4193G>C (p.Cys1398Ser) c.3530G>C (p.Cys1177Ser) c.8045G>C (p.Cys2682Ser) | |
5 | g.13770911C>T | CA359205026 | DNAH5 | c.9443G>A (p.Cys3148Tyr) c.9398G>A (p.Cys3133Tyr) n.155G>A c.9551G>A (p.Cys3184Tyr) c.8456G>A (p.Cys2819Tyr) c.4640G>A (p.Cys1547Tyr) c.4193G>A (p.Cys1398Tyr) c.3530G>A (p.Cys1177Tyr) c.8045G>A (p.Cys2682Tyr) | |
5 | g.13770912A>C | CA359205027 | DNAH5 | c.9442T>G (p.Cys3148Gly) c.9397T>G (p.Cys3133Gly) n.154T>G c.9550T>G (p.Cys3184Gly) c.8455T>G (p.Cys2819Gly) c.4639T>G (p.Cys1547Gly) c.4192T>G (p.Cys1398Gly) c.3529T>G (p.Cys1177Gly) c.8044T>G (p.Cys2682Gly) | |
5 | g.13770912A>G | CA359205028 | DNAH5 | c.9442T>C (p.Cys3148Arg) c.9397T>C (p.Cys3133Arg) n.154T>C c.9550T>C (p.Cys3184Arg) c.8455T>C (p.Cys2819Arg) c.4639T>C (p.Cys1547Arg) c.4192T>C (p.Cys1398Arg) c.3529T>C (p.Cys1177Arg) c.8044T>C (p.Cys2682Arg) | |
5 | g.13770912A>T | CA359205030 | DNAH5 | c.9442T>A (p.Cys3148Ser) c.9397T>A (p.Cys3133Ser) n.154T>A c.9550T>A (p.Cys3184Ser) c.8455T>A (p.Cys2819Ser) c.4639T>A (p.Cys1547Ser) c.4192T>A (p.Cys1398Ser) c.3529T>A (p.Cys1177Ser) c.8044T>A (p.Cys2682Ser) | |
5 | g.13770913T>A | CA359205032 | DNAH5 | c.9441A>T (p.Gln3147His) c.9396A>T (p.Gln3132His) n.153A>T c.9549A>T (p.Gln3183His) c.8454A>T (p.Gln2818His) c.4638A>T (p.Gln1546His) c.4191A>T (p.Gln1397His) c.3528A>T (p.Gln1176His) c.8043A>T (p.Gln2681His) | |
5 | g.13770913T>C | CA443535710 | DNAH5 | c.9441A>G (p.Gln3147=) c.9396A>G (p.Gln3132=) n.153A>G c.9549A>G (p.Gln3183=) c.8454A>G (p.Gln2818=) c.4638A>G (p.Gln1546=) c.4191A>G (p.Gln1397=) c.3528A>G (p.Gln1176=) c.8043A>G (p.Gln2681=) | gnomAD v4 |
5 | g.13770913T>G | CA359205034 | DNAH5 | c.9441A>C (p.Gln3147His) c.9396A>C (p.Gln3132His) n.153A>C c.9549A>C (p.Gln3183His) c.8454A>C (p.Gln2818His) c.4638A>C (p.Gln1546His) c.4191A>C (p.Gln1397His) c.3528A>C (p.Gln1176His) c.8043A>C (p.Gln2681His) | |
5 | g.13770914T>A | CA359205037 | DNAH5 | c.9440A>T (p.Gln3147Leu) c.9395A>T (p.Gln3132Leu) n.152A>T c.9548A>T (p.Gln3183Leu) c.8453A>T (p.Gln2818Leu) c.4637A>T (p.Gln1546Leu) c.4190A>T (p.Gln1397Leu) c.3527A>T (p.Gln1176Leu) c.8042A>T (p.Gln2681Leu) | |
5 | g.13770914T>C | CA359205038 | DNAH5 | c.9440A>G (p.Gln3147Arg) c.9395A>G (p.Gln3132Arg) n.152A>G c.9548A>G (p.Gln3183Arg) c.8453A>G (p.Gln2818Arg) c.4637A>G (p.Gln1546Arg) c.4190A>G (p.Gln1397Arg) c.3527A>G (p.Gln1176Arg) c.8042A>G (p.Gln2681Arg) | |
5 | g.13770914T>G | CA359205041 | DNAH5 | c.9440A>C (p.Gln3147Pro) c.9395A>C (p.Gln3132Pro) n.152A>C c.9548A>C (p.Gln3183Pro) c.8453A>C (p.Gln2818Pro) c.4637A>C (p.Gln1546Pro) c.4190A>C (p.Gln1397Pro) c.3527A>C (p.Gln1176Pro) c.8042A>C (p.Gln2681Pro) | |
5 | g.13770915G>A | CA359205047 | DNAH5 | c.9439C>T (p.Gln3147Ter) c.9394C>T (p.Gln3132Ter) n.151C>T c.9547C>T (p.Gln3183Ter) c.8452C>T (p.Gln2818Ter) c.4636C>T (p.Gln1546Ter) c.4189C>T (p.Gln1397Ter) c.3526C>T (p.Gln1176Ter) c.8041C>T (p.Gln2681Ter) | COSMIC |
5 | g.13770915G>C | CA359205054 | DNAH5 | c.9439C>G (p.Gln3147Glu) c.9394C>G (p.Gln3132Glu) n.151C>G c.9547C>G (p.Gln3183Glu) c.8452C>G (p.Gln2818Glu) c.4636C>G (p.Gln1546Glu) c.4189C>G (p.Gln1397Glu) c.3526C>G (p.Gln1176Glu) c.8041C>G (p.Gln2681Glu) | |
5 | g.13770915G>T | CA359205044 | DNAH5 | c.9439C>A (p.Gln3147Lys) c.9394C>A (p.Gln3132Lys) n.151C>A c.9547C>A (p.Gln3183Lys) c.8452C>A (p.Gln2818Lys) c.4636C>A (p.Gln1546Lys) c.4189C>A (p.Gln1397Lys) c.3526C>A (p.Gln1176Lys) c.8041C>A (p.Gln2681Lys) | |
5 | g.13770916G>A | CA443535719 | DNAH5 | c.9438C>T (p.Val3146=) c.9393C>T (p.Val3131=) n.150C>T c.9546C>T (p.Val3182=) c.8451C>T (p.Val2817=) c.4635C>T (p.Val1545=) c.4188C>T (p.Val1396=) c.3525C>T (p.Val1175=) c.8040C>T (p.Val2680=) | |
5 | g.13770916G>C | CA443535720 | DNAH5 | c.9438C>G (p.Val3146=) c.9393C>G (p.Val3131=) n.150C>G c.9546C>G (p.Val3182=) c.8451C>G (p.Val2817=) c.4635C>G (p.Val1545=) c.4188C>G (p.Val1396=) c.3525C>G (p.Val1175=) c.8040C>G (p.Val2680=) | |
5 | g.13770916G>T | CA443535721 | DNAH5 | c.9438C>A (p.Val3146=) c.9393C>A (p.Val3131=) n.150C>A c.9546C>A (p.Val3182=) c.8451C>A (p.Val2817=) c.4635C>A (p.Val1545=) c.4188C>A (p.Val1396=) c.3525C>A (p.Val1175=) c.8040C>A (p.Val2680=) |