| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13776561A>C | CA359208766 | DNAH5 | c.9251T>G (p.Ile3084Ser) c.9206T>G (p.Ile3069Ser) c.9359T>G (p.Ile3120Ser) c.8264T>G (p.Ile2755Ser) c.4448T>G (p.Ile1483Ser) c.4001T>G (p.Ile1334Ser) c.3338T>G (p.Ile1113Ser) c.7853T>G (p.Ile2618Ser) | |
| 5 | g.13776561A>G | CA359208769 | DNAH5 | c.9251T>C (p.Ile3084Thr) c.9206T>C (p.Ile3069Thr) c.9359T>C (p.Ile3120Thr) c.8264T>C (p.Ile2755Thr) c.4448T>C (p.Ile1483Thr) c.4001T>C (p.Ile1334Thr) c.3338T>C (p.Ile1113Thr) c.7853T>C (p.Ile2618Thr) | |
| 5 | g.13776561A>T | CA359208772 | DNAH5 | c.9251T>A (p.Ile3084Asn) c.9206T>A (p.Ile3069Asn) c.9359T>A (p.Ile3120Asn) c.8264T>A (p.Ile2755Asn) c.4448T>A (p.Ile1483Asn) c.4001T>A (p.Ile1334Asn) c.3338T>A (p.Ile1113Asn) c.7853T>A (p.Ile2618Asn) | |
| 5 | g.13776562T>A | CA359208774 | DNAH5 | c.9250A>T (p.Ile3084Phe) c.9205A>T (p.Ile3069Phe) c.9358A>T (p.Ile3120Phe) c.8263A>T (p.Ile2755Phe) c.4447A>T (p.Ile1483Phe) c.4000A>T (p.Ile1334Phe) c.3337A>T (p.Ile1113Phe) c.7852A>T (p.Ile2618Phe) | |
| 5 | g.13776562T>C | CA113937673 | DNAH5 | c.9250A>G (p.Ile3084Val) c.9205A>G (p.Ile3069Val) c.9358A>G (p.Ile3120Val) c.8263A>G (p.Ile2755Val) c.4447A>G (p.Ile1483Val) c.4000A>G (p.Ile1334Val) c.3337A>G (p.Ile1113Val) c.7852A>G (p.Ile2618Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776562T>G | CA359208780 | DNAH5 | c.9250A>C (p.Ile3084Leu) c.9205A>C (p.Ile3069Leu) c.9358A>C (p.Ile3120Leu) c.8263A>C (p.Ile2755Leu) c.4447A>C (p.Ile1483Leu) c.4000A>C (p.Ile1334Leu) c.3337A>C (p.Ile1113Leu) c.7852A>C (p.Ile2618Leu) | gnomAD v4 |
| 5 | g.13776562T= | CA1528435165 | DNAH5 | c.9250A= (p.Ile3084=) c.9205A= (p.Ile3069=) c.9358A= (p.Ile3120=) c.8263A= (p.Ile2755=) c.4447A= (p.Ile1483=) c.4000A= (p.Ile1334=) c.3337A= (p.Ile1113=) c.7852A= (p.Ile2618=) | |
| 5 | g.13776563A>C | CA359208784 | DNAH5 | c.9249T>G (p.His3083Gln) c.9204T>G (p.His3068Gln) c.9357T>G (p.His3119Gln) c.8262T>G (p.His2754Gln) c.4446T>G (p.His1482Gln) c.3999T>G (p.His1333Gln) c.3336T>G (p.His1112Gln) c.7851T>G (p.His2617Gln) | |
| 5 | g.13776563A>G | CA443535600 | DNAH5 | c.9249T>C (p.His3083=) c.9204T>C (p.His3068=) c.9357T>C (p.His3119=) c.8262T>C (p.His2754=) c.4446T>C (p.His1482=) c.3999T>C (p.His1333=) c.3336T>C (p.His1112=) c.7851T>C (p.His2617=) | |
| 5 | g.13776563A>T | CA359208788 | DNAH5 | c.9249T>A (p.His3083Gln) c.9204T>A (p.His3068Gln) c.9357T>A (p.His3119Gln) c.8262T>A (p.His2754Gln) c.4446T>A (p.His1482Gln) c.3999T>A (p.His1333Gln) c.3336T>A (p.His1112Gln) c.7851T>A (p.His2617Gln) | |
| 5 | g.13776564T>A | CA359208827 | DNAH5 | c.9248A>T (p.His3083Leu) c.9203A>T (p.His3068Leu) c.9356A>T (p.His3119Leu) c.8261A>T (p.His2754Leu) c.4445A>T (p.His1482Leu) c.3998A>T (p.His1333Leu) c.3335A>T (p.His1112Leu) c.7850A>T (p.His2617Leu) | |
| 5 | g.13776564T>C | CA359208791 | DNAH5 | c.9248A>G (p.His3083Arg) c.9203A>G (p.His3068Arg) c.9356A>G (p.His3119Arg) c.8261A>G (p.His2754Arg) c.4445A>G (p.His1482Arg) c.3998A>G (p.His1333Arg) c.3335A>G (p.His1112Arg) c.7850A>G (p.His2617Arg) | dbSNP gnomAD v2 |
| 5 | g.13776564T>G | CA359208796 | DNAH5 | c.9248A>C (p.His3083Pro) c.9203A>C (p.His3068Pro) c.9356A>C (p.His3119Pro) c.8261A>C (p.His2754Pro) c.4445A>C (p.His1482Pro) c.3998A>C (p.His1333Pro) c.3335A>C (p.His1112Pro) c.7850A>C (p.His2617Pro) | |
| 5 | g.13776564T= | CA1528435167 | DNAH5 | c.9248A= (p.His3083=) c.9203A= (p.His3068=) c.9356A= (p.His3119=) c.8261A= (p.His2754=) c.4445A= (p.His1482=) c.3998A= (p.His1333=) c.3335A= (p.His1112=) c.7850A= (p.His2617=) | |
| 5 | g.13776565G>A | CA359208829 | DNAH5 | c.9247C>T (p.His3083Tyr) c.9202C>T (p.His3068Tyr) c.9355C>T (p.His3119Tyr) c.8260C>T (p.His2754Tyr) c.4444C>T (p.His1482Tyr) c.3997C>T (p.His1333Tyr) c.3334C>T (p.His1112Tyr) c.7849C>T (p.His2617Tyr) | gnomAD v4 |
| 5 | g.13776565G>C | CA359208830 | DNAH5 | c.9247C>G (p.His3083Asp) c.9202C>G (p.His3068Asp) c.9355C>G (p.His3119Asp) c.8260C>G (p.His2754Asp) c.4444C>G (p.His1482Asp) c.3997C>G (p.His1333Asp) c.3334C>G (p.His1112Asp) c.7849C>G (p.His2617Asp) | |
| 5 | g.13776565G= | CA1528435171 | DNAH5 | c.9247C= (p.His3083=) c.9202C= (p.His3068=) c.9355C= (p.His3119=) c.8260C= (p.His2754=) c.4444C= (p.His1482=) c.3997C= (p.His1333=) c.3334C= (p.His1112=) c.7849C= (p.His2617=) | |
| 5 | g.13776565G>T | CA359208831 | DNAH5 | c.9247C>A (p.His3083Asn) c.9202C>A (p.His3068Asn) c.9355C>A (p.His3119Asn) c.8260C>A (p.His2754Asn) c.4444C>A (p.His1482Asn) c.3997C>A (p.His1333Asn) c.3334C>A (p.His1112Asn) c.7849C>A (p.His2617Asn) | dbSNP gnomAD v2 |
| 5 | g.13776566A>C | CA443535603 | DNAH5 | c.9246T>G (p.Leu3082=) c.9201T>G (p.Leu3067=) c.9354T>G (p.Leu3118=) c.8259T>G (p.Leu2753=) c.4443T>G (p.Leu1481=) c.3996T>G (p.Leu1332=) c.3333T>G (p.Leu1111=) c.7848T>G (p.Leu2616=) | |
| 5 | g.13776566A>G | CA443535604 | DNAH5 | c.9246T>C (p.Leu3082=) c.9201T>C (p.Leu3067=) c.9354T>C (p.Leu3118=) c.8259T>C (p.Leu2753=) c.4443T>C (p.Leu1481=) c.3996T>C (p.Leu1332=) c.3333T>C (p.Leu1111=) c.7848T>C (p.Leu2616=) | |
| 5 | g.13776566A>T | CA443535605 | DNAH5 | c.9246T>A (p.Leu3082=) c.9201T>A (p.Leu3067=) c.9354T>A (p.Leu3118=) c.8259T>A (p.Leu2753=) c.4443T>A (p.Leu1481=) c.3996T>A (p.Leu1332=) c.3333T>A (p.Leu1111=) c.7848T>A (p.Leu2616=) | |
| 5 | g.13776567A= | CA1528435172 | DNAH5 | c.9245T= (p.Leu3082=) c.9200T= (p.Leu3067=) c.9353T= (p.Leu3118=) c.8258T= (p.Leu2753=) c.4442T= (p.Leu1481=) c.3995T= (p.Leu1332=) c.3332T= (p.Leu1111=) c.7847T= (p.Leu2616=) | |
| 5 | g.13776567A>C | CA359208833 | DNAH5 | c.9245T>G (p.Leu3082Arg) c.9200T>G (p.Leu3067Arg) c.9353T>G (p.Leu3118Arg) c.8258T>G (p.Leu2753Arg) c.4442T>G (p.Leu1481Arg) c.3995T>G (p.Leu1332Arg) c.3332T>G (p.Leu1111Arg) c.7847T>G (p.Leu2616Arg) | |
| 5 | g.13776567A>G | CA359208835 | DNAH5 | c.9245T>C (p.Leu3082Pro) c.9200T>C (p.Leu3067Pro) c.9353T>C (p.Leu3118Pro) c.8258T>C (p.Leu2753Pro) c.4442T>C (p.Leu1481Pro) c.3995T>C (p.Leu1332Pro) c.3332T>C (p.Leu1111Pro) c.7847T>C (p.Leu2616Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776567A>T | CA359208837 | DNAH5 | c.9245T>A (p.Leu3082His) c.9200T>A (p.Leu3067His) c.9353T>A (p.Leu3118His) c.8258T>A (p.Leu2753His) c.4442T>A (p.Leu1481His) c.3995T>A (p.Leu1332His) c.3332T>A (p.Leu1111His) c.7847T>A (p.Leu2616His) | |
| 5 | g.13776568G>A | CA359208844 | DNAH5 | c.9244C>T (p.Leu3082Phe) c.9199C>T (p.Leu3067Phe) c.9352C>T (p.Leu3118Phe) c.8257C>T (p.Leu2753Phe) c.4441C>T (p.Leu1481Phe) c.3994C>T (p.Leu1332Phe) c.3331C>T (p.Leu1111Phe) c.7846C>T (p.Leu2616Phe) | |
| 5 | g.13776568G>C | CA359208847 | DNAH5 | c.9244C>G (p.Leu3082Val) c.9199C>G (p.Leu3067Val) c.9352C>G (p.Leu3118Val) c.8257C>G (p.Leu2753Val) c.4441C>G (p.Leu1481Val) c.3994C>G (p.Leu1332Val) c.3331C>G (p.Leu1111Val) c.7846C>G (p.Leu2616Val) | |
| 5 | g.13776568G= | CA1528435175 | DNAH5 | c.9244C= (p.Leu3082=) c.9199C= (p.Leu3067=) c.9352C= (p.Leu3118=) c.8257C= (p.Leu2753=) c.4441C= (p.Leu1481=) c.3994C= (p.Leu1332=) c.3331C= (p.Leu1111=) c.7846C= (p.Leu2616=) | |
| 5 | g.13776568G>T | CA3202588 | DNAH5 | c.9244C>A (p.Leu3082Ile) c.9199C>A (p.Leu3067Ile) c.9352C>A (p.Leu3118Ile) c.8257C>A (p.Leu2753Ile) c.4441C>A (p.Leu1481Ile) c.3994C>A (p.Leu1332Ile) c.3331C>A (p.Leu1111Ile) c.7846C>A (p.Leu2616Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776569G>A | CA443535606 | DNAH5 | c.9243C>T (p.Asn3081=) c.9198C>T (p.Asn3066=) c.9351C>T (p.Asn3117=) c.8256C>T (p.Asn2752=) c.4440C>T (p.Asn1480=) c.3993C>T (p.Asn1331=) c.3330C>T (p.Asn1110=) c.7845C>T (p.Asn2615=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776569G>C | CA359208853 | DNAH5 | c.9243C>G (p.Asn3081Lys) c.9198C>G (p.Asn3066Lys) c.9351C>G (p.Asn3117Lys) c.8256C>G (p.Asn2752Lys) c.4440C>G (p.Asn1480Lys) c.3993C>G (p.Asn1331Lys) c.3330C>G (p.Asn1110Lys) c.7845C>G (p.Asn2615Lys) | |
| 5 | g.13776569G= | CA1528435180 | DNAH5 | c.9243C= (p.Asn3081=) c.9198C= (p.Asn3066=) c.9351C= (p.Asn3117=) c.8256C= (p.Asn2752=) c.4440C= (p.Asn1480=) c.3993C= (p.Asn1331=) c.3330C= (p.Asn1110=) c.7845C= (p.Asn2615=) | |
| 5 | g.13776569G>T | CA359208855 | DNAH5 | c.9243C>A (p.Asn3081Lys) c.9198C>A (p.Asn3066Lys) c.9351C>A (p.Asn3117Lys) c.8256C>A (p.Asn2752Lys) c.4440C>A (p.Asn1480Lys) c.3993C>A (p.Asn1331Lys) c.3330C>A (p.Asn1110Lys) c.7845C>A (p.Asn2615Lys) | |
| 5 | g.13776570T>A | CA359208867 | DNAH5 | c.9242A>T (p.Asn3081Ile) c.9197A>T (p.Asn3066Ile) c.9350A>T (p.Asn3117Ile) c.8255A>T (p.Asn2752Ile) c.4439A>T (p.Asn1480Ile) c.3992A>T (p.Asn1331Ile) c.3329A>T (p.Asn1110Ile) c.7844A>T (p.Asn2615Ile) | |
| 5 | g.13776570T>C | CA359208873 | DNAH5 | c.9242A>G (p.Asn3081Ser) c.9197A>G (p.Asn3066Ser) c.9350A>G (p.Asn3117Ser) c.8255A>G (p.Asn2752Ser) c.4439A>G (p.Asn1480Ser) c.3992A>G (p.Asn1331Ser) c.3329A>G (p.Asn1110Ser) c.7844A>G (p.Asn2615Ser) | gnomAD v4 |
| 5 | g.13776570T>G | CA359208864 | DNAH5 | c.9242A>C (p.Asn3081Thr) c.9197A>C (p.Asn3066Thr) c.9350A>C (p.Asn3117Thr) c.8255A>C (p.Asn2752Thr) c.4439A>C (p.Asn1480Thr) c.3992A>C (p.Asn1331Thr) c.3329A>C (p.Asn1110Thr) c.7844A>C (p.Asn2615Thr) | |
| 5 | g.13776571T>A | CA359208875 | DNAH5 | c.9241A>T (p.Asn3081Tyr) c.9196A>T (p.Asn3066Tyr) c.9349A>T (p.Asn3117Tyr) c.8254A>T (p.Asn2752Tyr) c.4438A>T (p.Asn1480Tyr) c.3991A>T (p.Asn1331Tyr) c.3328A>T (p.Asn1110Tyr) c.7843A>T (p.Asn2615Tyr) | |
| 5 | g.13776571T>C | CA359208876 | DNAH5 | c.9241A>G (p.Asn3081Asp) c.9196A>G (p.Asn3066Asp) c.9349A>G (p.Asn3117Asp) c.8254A>G (p.Asn2752Asp) c.4438A>G (p.Asn1480Asp) c.3991A>G (p.Asn1331Asp) c.3328A>G (p.Asn1110Asp) c.7843A>G (p.Asn2615Asp) | |
| 5 | g.13776571T>G | CA359208880 | DNAH5 | c.9241A>C (p.Asn3081His) c.9196A>C (p.Asn3066His) c.9349A>C (p.Asn3117His) c.8254A>C (p.Asn2752His) c.4438A>C (p.Asn1480His) c.3991A>C (p.Asn1331His) c.3328A>C (p.Asn1110His) c.7843A>C (p.Asn2615His) | |
| 5 | g.13776572C>A | CA359208896 | DNAH5 | c.9240G>T (p.Gln3080His) c.9195G>T (p.Gln3065His) c.9348G>T (p.Gln3116His) c.8253G>T (p.Gln2751His) c.4437G>T (p.Gln1479His) c.3990G>T (p.Gln1330His) c.3327G>T (p.Gln1109His) c.7842G>T (p.Gln2614His) | |
| 5 | g.13776572C= | CA1528435183 | DNAH5 | c.9240G= (p.Gln3080=) c.9195G= (p.Gln3065=) c.9348G= (p.Gln3116=) c.8253G= (p.Gln2751=) c.4437G= (p.Gln1479=) c.3990G= (p.Gln1330=) c.3327G= (p.Gln1109=) c.7842G= (p.Gln2614=) | |
| 5 | g.13776572C>G | CA359208910 | DNAH5 | c.9240G>C (p.Gln3080His) c.9195G>C (p.Gln3065His) c.9348G>C (p.Gln3116His) c.8253G>C (p.Gln2751His) c.4437G>C (p.Gln1479His) c.3990G>C (p.Gln1330His) c.3327G>C (p.Gln1109His) c.7842G>C (p.Gln2614His) | |
| 5 | g.13776572C>T | CA113937675 | DNAH5 | c.9240G>A (p.Gln3080=) c.9195G>A (p.Gln3065=) c.9348G>A (p.Gln3116=) c.8253G>A (p.Gln2751=) c.4437G>A (p.Gln1479=) c.3990G>A (p.Gln1330=) c.3327G>A (p.Gln1109=) c.7842G>A (p.Gln2614=) | dbSNP COSMIC |
| 5 | g.13776573T>A | CA359208913 | DNAH5 | c.9239A>T (p.Gln3080Leu) c.9194A>T (p.Gln3065Leu) c.9347A>T (p.Gln3116Leu) c.8252A>T (p.Gln2751Leu) c.4436A>T (p.Gln1479Leu) c.3989A>T (p.Gln1330Leu) c.3326A>T (p.Gln1109Leu) c.7841A>T (p.Gln2614Leu) | |
| 5 | g.13776573T>C | CA359208914 | DNAH5 | c.9239A>G (p.Gln3080Arg) c.9194A>G (p.Gln3065Arg) c.9347A>G (p.Gln3116Arg) c.8252A>G (p.Gln2751Arg) c.4436A>G (p.Gln1479Arg) c.3989A>G (p.Gln1330Arg) c.3326A>G (p.Gln1109Arg) c.7841A>G (p.Gln2614Arg) | |
| 5 | g.13776573T>G | CA359208915 | DNAH5 | c.9239A>C (p.Gln3080Pro) c.9194A>C (p.Gln3065Pro) c.9347A>C (p.Gln3116Pro) c.8252A>C (p.Gln2751Pro) c.4436A>C (p.Gln1479Pro) c.3989A>C (p.Gln1330Pro) c.3326A>C (p.Gln1109Pro) c.7841A>C (p.Gln2614Pro) | |
| 5 | g.13776574G>A | CA359208919 | DNAH5 | c.9238C>T (p.Gln3080Ter) c.9193C>T (p.Gln3065Ter) c.9346C>T (p.Gln3116Ter) c.8251C>T (p.Gln2751Ter) c.4435C>T (p.Gln1479Ter) c.3988C>T (p.Gln1330Ter) c.3325C>T (p.Gln1109Ter) c.7840C>T (p.Gln2614Ter) | |
| 5 | g.13776574G>C | CA359208921 | DNAH5 | c.9238C>G (p.Gln3080Glu) c.9193C>G (p.Gln3065Glu) c.9346C>G (p.Gln3116Glu) c.8251C>G (p.Gln2751Glu) c.4435C>G (p.Gln1479Glu) c.3988C>G (p.Gln1330Glu) c.3325C>G (p.Gln1109Glu) c.7840C>G (p.Gln2614Glu) | |
| 5 | g.13776574G>T | CA359208922 | DNAH5 | c.9238C>A (p.Gln3080Lys) c.9193C>A (p.Gln3065Lys) c.9346C>A (p.Gln3116Lys) c.8251C>A (p.Gln2751Lys) c.4435C>A (p.Gln1479Lys) c.3988C>A (p.Gln1330Lys) c.3325C>A (p.Gln1109Lys) c.7840C>A (p.Gln2614Lys) | |
| 5 | g.13776575T>A | CA443535609 | DNAH5 | c.9237A>T (p.Arg3079=) c.9192A>T (p.Arg3064=) c.9345A>T (p.Arg3115=) c.8250A>T (p.Arg2750=) c.4434A>T (p.Arg1478=) c.3987A>T (p.Arg1329=) c.3324A>T (p.Arg1108=) c.7839A>T (p.Arg2613=) | |
| 5 | g.13776575T>C | CA443535611 | DNAH5 | c.9237A>G (p.Arg3079=) c.9192A>G (p.Arg3064=) c.9345A>G (p.Arg3115=) c.8250A>G (p.Arg2750=) c.4434A>G (p.Arg1478=) c.3987A>G (p.Arg1329=) c.3324A>G (p.Arg1108=) c.7839A>G (p.Arg2613=) | |
| 5 | g.13776575T>G | CA443535610 | DNAH5 | c.9237A>C (p.Arg3079=) c.9192A>C (p.Arg3064=) c.9345A>C (p.Arg3115=) c.8250A>C (p.Arg2750=) c.4434A>C (p.Arg1478=) c.3987A>C (p.Arg1329=) c.3324A>C (p.Arg1108=) c.7839A>C (p.Arg2613=) | |
| 5 | g.13776576C>A | CA359208923 | DNAH5 | c.9236G>T (p.Arg3079Leu) c.9191G>T (p.Arg3064Leu) c.9344G>T (p.Arg3115Leu) c.8249G>T (p.Arg2750Leu) c.4433G>T (p.Arg1478Leu) c.3986G>T (p.Arg1329Leu) c.3323G>T (p.Arg1108Leu) c.7838G>T (p.Arg2613Leu) | |
| 5 | g.13776576C= | CA1528435188 | DNAH5 | c.9236G= (p.Arg3079=) c.9191G= (p.Arg3064=) c.9344G= (p.Arg3115=) c.8249G= (p.Arg2750=) c.4433G= (p.Arg1478=) c.3986G= (p.Arg1329=) c.3323G= (p.Arg1108=) c.7838G= (p.Arg2613=) | |
| 5 | g.13776576C>G | CA359208924 | DNAH5 | c.9236G>C (p.Arg3079Pro) c.9191G>C (p.Arg3064Pro) c.9344G>C (p.Arg3115Pro) c.8249G>C (p.Arg2750Pro) c.4433G>C (p.Arg1478Pro) c.3986G>C (p.Arg1329Pro) c.3323G>C (p.Arg1108Pro) c.7838G>C (p.Arg2613Pro) | gnomAD v4 |
| 5 | g.13776576C>T | CA3202589 | DNAH5 | c.9236G>A (p.Arg3079Gln) c.9191G>A (p.Arg3064Gln) c.9344G>A (p.Arg3115Gln) c.8249G>A (p.Arg2750Gln) c.4433G>A (p.Arg1478Gln) c.3986G>A (p.Arg1329Gln) c.3323G>A (p.Arg1108Gln) c.7838G>A (p.Arg2613Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776577G>A | CA359208925 | DNAH5 | c.9235C>T (p.Arg3079Ter) c.9190C>T (p.Arg3064Ter) c.9343C>T (p.Arg3115Ter) c.8248C>T (p.Arg2750Ter) c.4432C>T (p.Arg1478Ter) c.3985C>T (p.Arg1329Ter) c.3322C>T (p.Arg1108Ter) c.7837C>T (p.Arg2613Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776577G>C | CA359208927 | DNAH5 | c.9235C>G (p.Arg3079Gly) c.9190C>G (p.Arg3064Gly) c.9343C>G (p.Arg3115Gly) c.8248C>G (p.Arg2750Gly) c.4432C>G (p.Arg1478Gly) c.3985C>G (p.Arg1329Gly) c.3322C>G (p.Arg1108Gly) c.7837C>G (p.Arg2613Gly) | |
| 5 | g.13776577G= | CA1528435197 | DNAH5 | c.9235C= (p.Arg3079=) c.9190C= (p.Arg3064=) c.9343C= (p.Arg3115=) c.8248C= (p.Arg2750=) c.4432C= (p.Arg1478=) c.3985C= (p.Arg1329=) c.3322C= (p.Arg1108=) c.7837C= (p.Arg2613=) | |
| 5 | g.13776577G>T | CA443535613 | DNAH5 | c.9235C>A (p.Arg3079=) c.9190C>A (p.Arg3064=) c.9343C>A (p.Arg3115=) c.8248C>A (p.Arg2750=) c.4432C>A (p.Arg1478=) c.3985C>A (p.Arg1329=) c.3322C>A (p.Arg1108=) c.7837C>A (p.Arg2613=) | |
| 5 | g.13776578G>A | CA443535614 | DNAH5 | c.9234C>T (p.Val3078=) c.9189C>T (p.Val3063=) c.9342C>T (p.Val3114=) c.8247C>T (p.Val2749=) c.4431C>T (p.Val1477=) c.3984C>T (p.Val1328=) c.3321C>T (p.Val1107=) c.7836C>T (p.Val2612=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776578G>C | CA443535615 | DNAH5 | c.9234C>G (p.Val3078=) c.9189C>G (p.Val3063=) c.9342C>G (p.Val3114=) c.8247C>G (p.Val2749=) c.4431C>G (p.Val1477=) c.3984C>G (p.Val1328=) c.3321C>G (p.Val1107=) c.7836C>G (p.Val2612=) | gnomAD v4 |
| 5 | g.13776578G= | CA1528435202 | DNAH5 | c.9234C= (p.Val3078=) c.9189C= (p.Val3063=) c.9342C= (p.Val3114=) c.8247C= (p.Val2749=) c.4431C= (p.Val1477=) c.3984C= (p.Val1328=) c.3321C= (p.Val1107=) c.7836C= (p.Val2612=) | |
| 5 | g.13776578G>T | CA443535616 | DNAH5 | c.9234C>A (p.Val3078=) c.9189C>A (p.Val3063=) c.9342C>A (p.Val3114=) c.8247C>A (p.Val2749=) c.4431C>A (p.Val1477=) c.3984C>A (p.Val1328=) c.3321C>A (p.Val1107=) c.7836C>A (p.Val2612=) | |
| 5 | g.13776579A>C | CA359208935 | DNAH5 | c.9233T>G (p.Val3078Gly) c.9188T>G (p.Val3063Gly) c.9341T>G (p.Val3114Gly) c.8246T>G (p.Val2749Gly) c.4430T>G (p.Val1477Gly) c.3983T>G (p.Val1328Gly) c.3320T>G (p.Val1107Gly) c.7835T>G (p.Val2612Gly) | |
| 5 | g.13776579A>G | CA359208942 | DNAH5 | c.9233T>C (p.Val3078Ala) c.9188T>C (p.Val3063Ala) c.9341T>C (p.Val3114Ala) c.8246T>C (p.Val2749Ala) c.4430T>C (p.Val1477Ala) c.3983T>C (p.Val1328Ala) c.3320T>C (p.Val1107Ala) c.7835T>C (p.Val2612Ala) | |
| 5 | g.13776579A>T | CA359208951 | DNAH5 | c.9233T>A (p.Val3078Asp) c.9188T>A (p.Val3063Asp) c.9341T>A (p.Val3114Asp) c.8246T>A (p.Val2749Asp) c.4430T>A (p.Val1477Asp) c.3983T>A (p.Val1328Asp) c.3320T>A (p.Val1107Asp) c.7835T>A (p.Val2612Asp) | |
| 5 | g.13776580C>A | CA359208966 | DNAH5 | c.9232G>T (p.Val3078Phe) c.9187G>T (p.Val3063Phe) c.9340G>T (p.Val3114Phe) c.8245G>T (p.Val2749Phe) c.4429G>T (p.Val1477Phe) c.3982G>T (p.Val1328Phe) c.3319G>T (p.Val1107Phe) c.7834G>T (p.Val2612Phe) | |
| 5 | g.13776580C>G | CA359208963 | DNAH5 | c.9232G>C (p.Val3078Leu) c.9187G>C (p.Val3063Leu) c.9340G>C (p.Val3114Leu) c.8245G>C (p.Val2749Leu) c.4429G>C (p.Val1477Leu) c.3982G>C (p.Val1328Leu) c.3319G>C (p.Val1107Leu) c.7834G>C (p.Val2612Leu) | |
| 5 | g.13776580C>T | CA359208957 | DNAH5 | c.9232G>A (p.Val3078Ile) c.9187G>A (p.Val3063Ile) c.9340G>A (p.Val3114Ile) c.8245G>A (p.Val2749Ile) c.4429G>A (p.Val1477Ile) c.3982G>A (p.Val1328Ile) c.3319G>A (p.Val1107Ile) c.7834G>A (p.Val2612Ile) | |
| 5 | g.13776581C>A | CA443535618 | DNAH5 | c.9231G>T (p.Arg3077=) c.9186G>T (p.Arg3062=) c.9339G>T (p.Arg3113=) c.8244G>T (p.Arg2748=) c.4428G>T (p.Arg1476=) c.3981G>T (p.Arg1327=) c.3318G>T (p.Arg1106=) c.7833G>T (p.Arg2611=) | gnomAD v4 |
| 5 | g.13776581C>G | CA443535619 | DNAH5 | c.9231G>C (p.Arg3077=) c.9186G>C (p.Arg3062=) c.9339G>C (p.Arg3113=) c.8244G>C (p.Arg2748=) c.4428G>C (p.Arg1476=) c.3981G>C (p.Arg1327=) c.3318G>C (p.Arg1106=) c.7833G>C (p.Arg2611=) | ClinVar dbSNP |
| 5 | g.13776581C>T | CA443535620 | DNAH5 | c.9231G>A (p.Arg3077=) c.9186G>A (p.Arg3062=) c.9339G>A (p.Arg3113=) c.8244G>A (p.Arg2748=) c.4428G>A (p.Arg1476=) c.3981G>A (p.Arg1327=) c.3318G>A (p.Arg1106=) c.7833G>A (p.Arg2611=) | |
| 5 | g.13776582C>A | CA3202590 | DNAH5 | c.9230G>T (p.Arg3077Leu) c.9185G>T (p.Arg3062Leu) c.9338G>T (p.Arg3113Leu) c.8243G>T (p.Arg2748Leu) c.4427G>T (p.Arg1476Leu) c.3980G>T (p.Arg1327Leu) c.3317G>T (p.Arg1106Leu) c.7832G>T (p.Arg2611Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776582C= | CA1528435214 | DNAH5 | c.9230G= (p.Arg3077=) c.9185G= (p.Arg3062=) c.9338G= (p.Arg3113=) c.8243G= (p.Arg2748=) c.4427G= (p.Arg1476=) c.3980G= (p.Arg1327=) c.3317G= (p.Arg1106=) c.7832G= (p.Arg2611=) | |
| 5 | g.13776582C>G | CA359208968 | DNAH5 | c.9230G>C (p.Arg3077Pro) c.9185G>C (p.Arg3062Pro) c.9338G>C (p.Arg3113Pro) c.8243G>C (p.Arg2748Pro) c.4427G>C (p.Arg1476Pro) c.3980G>C (p.Arg1327Pro) c.3317G>C (p.Arg1106Pro) c.7832G>C (p.Arg2611Pro) | |
| 5 | g.13776582C>T | CA3202591 | DNAH5 | c.9230G>A (p.Arg3077Gln) c.9185G>A (p.Arg3062Gln) c.9338G>A (p.Arg3113Gln) c.8243G>A (p.Arg2748Gln) c.4427G>A (p.Arg1476Gln) c.3980G>A (p.Arg1327Gln) c.3317G>A (p.Arg1106Gln) c.7832G>A (p.Arg2611Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776583G>A | CA359208969 | DNAH5 | c.9229C>T (p.Arg3077Trp) c.9184C>T (p.Arg3062Trp) c.9337C>T (p.Arg3113Trp) c.8242C>T (p.Arg2748Trp) c.4426C>T (p.Arg1476Trp) c.3979C>T (p.Arg1327Trp) c.3316C>T (p.Arg1106Trp) c.7831C>T (p.Arg2611Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776583G>C | CA359208970 | DNAH5 | c.9229C>G (p.Arg3077Gly) c.9184C>G (p.Arg3062Gly) c.9337C>G (p.Arg3113Gly) c.8242C>G (p.Arg2748Gly) c.4426C>G (p.Arg1476Gly) c.3979C>G (p.Arg1327Gly) c.3316C>G (p.Arg1106Gly) c.7831C>G (p.Arg2611Gly) | |
| 5 | g.13776583G= | CA1528435221 | DNAH5 | c.9229C= (p.Arg3077=) c.9184C= (p.Arg3062=) c.9337C= (p.Arg3113=) c.8242C= (p.Arg2748=) c.4426C= (p.Arg1476=) c.3979C= (p.Arg1327=) c.3316C= (p.Arg1106=) c.7831C= (p.Arg2611=) | |
| 5 | g.13776583G>T | CA443535621 | DNAH5 | c.9229C>A (p.Arg3077=) c.9184C>A (p.Arg3062=) c.9337C>A (p.Arg3113=) c.8242C>A (p.Arg2748=) c.4426C>A (p.Arg1476=) c.3979C>A (p.Arg1327=) c.3316C>A (p.Arg1106=) c.7831C>A (p.Arg2611=) | |
| 5 | g.13776584A>C | CA359208972 | DNAH5 | c.9228T>G (p.Ser3076Arg) c.9183T>G (p.Ser3061Arg) c.9336T>G (p.Ser3112Arg) c.8241T>G (p.Ser2747Arg) c.4425T>G (p.Ser1475Arg) c.3978T>G (p.Ser1326Arg) c.3315T>G (p.Ser1105Arg) c.7830T>G (p.Ser2610Arg) | |
| 5 | g.13776584A>G | CA443535622 | DNAH5 | c.9228T>C (p.Ser3076=) c.9183T>C (p.Ser3061=) c.9336T>C (p.Ser3112=) c.8241T>C (p.Ser2747=) c.4425T>C (p.Ser1475=) c.3978T>C (p.Ser1326=) c.3315T>C (p.Ser1105=) c.7830T>C (p.Ser2610=) | |
| 5 | g.13776584A>T | CA359208973 | DNAH5 | c.9228T>A (p.Ser3076Arg) c.9183T>A (p.Ser3061Arg) c.9336T>A (p.Ser3112Arg) c.8241T>A (p.Ser2747Arg) c.4425T>A (p.Ser1475Arg) c.3978T>A (p.Ser1326Arg) c.3315T>A (p.Ser1105Arg) c.7830T>A (p.Ser2610Arg) | |
| 5 | g.13776585C>A | CA359208984 | DNAH5 | c.9227G>T (p.Ser3076Ile) c.9182G>T (p.Ser3061Ile) c.9335G>T (p.Ser3112Ile) c.8240G>T (p.Ser2747Ile) c.4424G>T (p.Ser1475Ile) c.3977G>T (p.Ser1326Ile) c.3314G>T (p.Ser1105Ile) c.7829G>T (p.Ser2610Ile) | COSMIC |
| 5 | g.13776585C>G | CA359208983 | DNAH5 | c.9227G>C (p.Ser3076Thr) c.9182G>C (p.Ser3061Thr) c.9335G>C (p.Ser3112Thr) c.8240G>C (p.Ser2747Thr) c.4424G>C (p.Ser1475Thr) c.3977G>C (p.Ser1326Thr) c.3314G>C (p.Ser1105Thr) c.7829G>C (p.Ser2610Thr) | |
| 5 | g.13776585C>T | CA359208979 | DNAH5 | c.9227G>A (p.Ser3076Asn) c.9182G>A (p.Ser3061Asn) c.9335G>A (p.Ser3112Asn) c.8240G>A (p.Ser2747Asn) c.4424G>A (p.Ser1475Asn) c.3977G>A (p.Ser1326Asn) c.3314G>A (p.Ser1105Asn) c.7829G>A (p.Ser2610Asn) | |
| 5 | g.13776586T>A | CA359208986 | DNAH5 | c.9226A>T (p.Ser3076Cys) c.9181A>T (p.Ser3061Cys) c.9334A>T (p.Ser3112Cys) c.8239A>T (p.Ser2747Cys) c.4423A>T (p.Ser1475Cys) c.3976A>T (p.Ser1326Cys) c.3313A>T (p.Ser1105Cys) c.7828A>T (p.Ser2610Cys) | |
| 5 | g.13776586T>C | CA359208990 | DNAH5 | c.9226A>G (p.Ser3076Gly) c.9181A>G (p.Ser3061Gly) c.9334A>G (p.Ser3112Gly) c.8239A>G (p.Ser2747Gly) c.4423A>G (p.Ser1475Gly) c.3976A>G (p.Ser1326Gly) c.3313A>G (p.Ser1105Gly) c.7828A>G (p.Ser2610Gly) | |
| 5 | g.13776586T>G | CA359208988 | DNAH5 | c.9226A>C (p.Ser3076Arg) c.9181A>C (p.Ser3061Arg) c.9334A>C (p.Ser3112Arg) c.8239A>C (p.Ser2747Arg) c.4423A>C (p.Ser1475Arg) c.3976A>C (p.Ser1326Arg) c.3313A>C (p.Ser1105Arg) c.7828A>C (p.Ser2610Arg) | |
| 5 | g.13776587C>A | CA359208992 | DNAH5 | c.9225G>T (p.Met3075Ile) c.9180G>T (p.Met3060Ile) c.9333G>T (p.Met3111Ile) c.8238G>T (p.Met2746Ile) c.4422G>T (p.Met1474Ile) c.3975G>T (p.Met1325Ile) c.3312G>T (p.Met1104Ile) c.7827G>T (p.Met2609Ile) | |
| 5 | g.13776587C= | CA1528435226 | DNAH5 | c.9225G= (p.Met3075=) c.9180G= (p.Met3060=) c.9333G= (p.Met3111=) c.8238G= (p.Met2746=) c.4422G= (p.Met1474=) c.3975G= (p.Met1325=) c.3312G= (p.Met1104=) c.7827G= (p.Met2609=) | |
| 5 | g.13776587C>G | CA359208998 | DNAH5 | c.9225G>C (p.Met3075Ile) c.9180G>C (p.Met3060Ile) c.9333G>C (p.Met3111Ile) c.8238G>C (p.Met2746Ile) c.4422G>C (p.Met1474Ile) c.3975G>C (p.Met1325Ile) c.3312G>C (p.Met1104Ile) c.7827G>C (p.Met2609Ile) | |
| 5 | g.13776587C>T | CA359208995 | DNAH5 | c.9225G>A (p.Met3075Ile) c.9180G>A (p.Met3060Ile) c.9333G>A (p.Met3111Ile) c.8238G>A (p.Met2746Ile) c.4422G>A (p.Met1474Ile) c.3975G>A (p.Met1325Ile) c.3312G>A (p.Met1104Ile) c.7827G>A (p.Met2609Ile) | dbSNP gnomAD v4 |
| 5 | g.13776588A>C | CA359209002 | DNAH5 | c.9224T>G (p.Met3075Arg) c.9179T>G (p.Met3060Arg) c.9332T>G (p.Met3111Arg) c.8237T>G (p.Met2746Arg) c.4421T>G (p.Met1474Arg) c.3974T>G (p.Met1325Arg) c.3311T>G (p.Met1104Arg) c.7826T>G (p.Met2609Arg) | |
| 5 | g.13776588A>G | CA359209005 | DNAH5 | c.9224T>C (p.Met3075Thr) c.9179T>C (p.Met3060Thr) c.9332T>C (p.Met3111Thr) c.8237T>C (p.Met2746Thr) c.4421T>C (p.Met1474Thr) c.3974T>C (p.Met1325Thr) c.3311T>C (p.Met1104Thr) c.7826T>C (p.Met2609Thr) | COSMIC |
| 5 | g.13776588A>T | CA359209006 | DNAH5 | c.9224T>A (p.Met3075Lys) c.9179T>A (p.Met3060Lys) c.9332T>A (p.Met3111Lys) c.8237T>A (p.Met2746Lys) c.4421T>A (p.Met1474Lys) c.3974T>A (p.Met1325Lys) c.3311T>A (p.Met1104Lys) c.7826T>A (p.Met2609Lys) | |
| 5 | g.13776589T>A | CA359209008 | DNAH5 | c.9223A>T (p.Met3075Leu) c.9178A>T (p.Met3060Leu) c.9331A>T (p.Met3111Leu) c.8236A>T (p.Met2746Leu) c.4420A>T (p.Met1474Leu) c.3973A>T (p.Met1325Leu) c.3310A>T (p.Met1104Leu) c.7825A>T (p.Met2609Leu) | |
| 5 | g.13776589T>C | CA359209022 | DNAH5 | c.9223A>G (p.Met3075Val) c.9178A>G (p.Met3060Val) c.9331A>G (p.Met3111Val) c.8236A>G (p.Met2746Val) c.4420A>G (p.Met1474Val) c.3973A>G (p.Met1325Val) c.3310A>G (p.Met1104Val) c.7825A>G (p.Met2609Val) | gnomAD v4 |
| 5 | g.13776589T>G | CA3202592 | DNAH5 | c.9223A>C (p.Met3075Leu) c.9178A>C (p.Met3060Leu) c.9331A>C (p.Met3111Leu) c.8236A>C (p.Met2746Leu) c.4420A>C (p.Met1474Leu) c.3973A>C (p.Met1325Leu) c.3310A>C (p.Met1104Leu) c.7825A>C (p.Met2609Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776589T= | CA1528435230 | DNAH5 | c.9223A= (p.Met3075=) c.9178A= (p.Met3060=) c.9331A= (p.Met3111=) c.8236A= (p.Met2746=) c.4420A= (p.Met1474=) c.3973A= (p.Met1325=) c.3310A= (p.Met1104=) c.7825A= (p.Met2609=) | |
| 5 | g.13776590G>A | CA443535624 | DNAH5 | c.9222C>T (p.Phe3074=) c.9177C>T (p.Phe3059=) c.9330C>T (p.Phe3110=) c.8235C>T (p.Phe2745=) c.4419C>T (p.Phe1473=) c.3972C>T (p.Phe1324=) c.3309C>T (p.Phe1103=) c.7824C>T (p.Phe2608=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776590G>C | CA359209030 | DNAH5 | c.9222C>G (p.Phe3074Leu) c.9177C>G (p.Phe3059Leu) c.9330C>G (p.Phe3110Leu) c.8235C>G (p.Phe2745Leu) c.4419C>G (p.Phe1473Leu) c.3972C>G (p.Phe1324Leu) c.3309C>G (p.Phe1103Leu) c.7824C>G (p.Phe2608Leu) | |
| 5 | g.13776590G= | CA1528435234 | DNAH5 | c.9222C= (p.Phe3074=) c.9177C= (p.Phe3059=) c.9330C= (p.Phe3110=) c.8235C= (p.Phe2745=) c.4419C= (p.Phe1473=) c.3972C= (p.Phe1324=) c.3309C= (p.Phe1103=) c.7824C= (p.Phe2608=) | |
| 5 | g.13776590G>T | CA359209031 | DNAH5 | c.9222C>A (p.Phe3074Leu) c.9177C>A (p.Phe3059Leu) c.9330C>A (p.Phe3110Leu) c.8235C>A (p.Phe2745Leu) c.4419C>A (p.Phe1473Leu) c.3972C>A (p.Phe1324Leu) c.3309C>A (p.Phe1103Leu) c.7824C>A (p.Phe2608Leu) | |
| 5 | g.13776591A>C | CA359209032 | DNAH5 | c.9221T>G (p.Phe3074Cys) c.9176T>G (p.Phe3059Cys) c.9329T>G (p.Phe3110Cys) c.8234T>G (p.Phe2745Cys) c.4418T>G (p.Phe1473Cys) c.3971T>G (p.Phe1324Cys) c.3308T>G (p.Phe1103Cys) c.7823T>G (p.Phe2608Cys) | |
| 5 | g.13776591A>G | CA359209039 | DNAH5 | c.9221T>C (p.Phe3074Ser) c.9176T>C (p.Phe3059Ser) c.9329T>C (p.Phe3110Ser) c.8234T>C (p.Phe2745Ser) c.4418T>C (p.Phe1473Ser) c.3971T>C (p.Phe1324Ser) c.3308T>C (p.Phe1103Ser) c.7823T>C (p.Phe2608Ser) | |
| 5 | g.13776591A>T | CA359209041 | DNAH5 | c.9221T>A (p.Phe3074Tyr) c.9176T>A (p.Phe3059Tyr) c.9329T>A (p.Phe3110Tyr) c.8234T>A (p.Phe2745Tyr) c.4418T>A (p.Phe1473Tyr) c.3971T>A (p.Phe1324Tyr) c.3308T>A (p.Phe1103Tyr) c.7823T>A (p.Phe2608Tyr) | |
| 5 | g.13776592A>C | CA359209062 | DNAH5 | c.9220T>G (p.Phe3074Val) c.9175T>G (p.Phe3059Val) c.9328T>G (p.Phe3110Val) c.8233T>G (p.Phe2745Val) c.4417T>G (p.Phe1473Val) c.3970T>G (p.Phe1324Val) c.3307T>G (p.Phe1103Val) c.7822T>G (p.Phe2608Val) | |
| 5 | g.13776592A>G | CA359209044 | DNAH5 | c.9220T>C (p.Phe3074Leu) c.9175T>C (p.Phe3059Leu) c.9328T>C (p.Phe3110Leu) c.8233T>C (p.Phe2745Leu) c.4417T>C (p.Phe1473Leu) c.3970T>C (p.Phe1324Leu) c.3307T>C (p.Phe1103Leu) c.7822T>C (p.Phe2608Leu) | |
| 5 | g.13776592A>T | CA359209057 | DNAH5 | c.9220T>A (p.Phe3074Ile) c.9175T>A (p.Phe3059Ile) c.9328T>A (p.Phe3110Ile) c.8233T>A (p.Phe2745Ile) c.4417T>A (p.Phe1473Ile) c.3970T>A (p.Phe1324Ile) c.3307T>A (p.Phe1103Ile) c.7822T>A (p.Phe2608Ile) | ClinVar gnomAD v4 |
| 5 | g.13776593G>A | CA443535626 | DNAH5 | c.9219C>T (p.Tyr3073=) c.9174C>T (p.Tyr3058=) c.9327C>T (p.Tyr3109=) c.8232C>T (p.Tyr2744=) c.4416C>T (p.Tyr1472=) c.3969C>T (p.Tyr1323=) c.3306C>T (p.Tyr1102=) c.7821C>T (p.Tyr2607=) | |
| 5 | g.13776593G>C | CA359209063 | DNAH5 | c.9219C>G (p.Tyr3073Ter) c.9174C>G (p.Tyr3058Ter) c.9327C>G (p.Tyr3109Ter) c.8232C>G (p.Tyr2744Ter) c.4416C>G (p.Tyr1472Ter) c.3969C>G (p.Tyr1323Ter) c.3306C>G (p.Tyr1102Ter) c.7821C>G (p.Tyr2607Ter) | |
| 5 | g.13776593G>T | CA359209064 | DNAH5 | c.9219C>A (p.Tyr3073Ter) c.9174C>A (p.Tyr3058Ter) c.9327C>A (p.Tyr3109Ter) c.8232C>A (p.Tyr2744Ter) c.4416C>A (p.Tyr1472Ter) c.3969C>A (p.Tyr1323Ter) c.3306C>A (p.Tyr1102Ter) c.7821C>A (p.Tyr2607Ter) | |
| 5 | g.13776594T>A | CA359209068 | DNAH5 | c.9218A>T (p.Tyr3073Phe) c.9173A>T (p.Tyr3058Phe) c.9326A>T (p.Tyr3109Phe) c.8231A>T (p.Tyr2744Phe) c.4415A>T (p.Tyr1472Phe) c.3968A>T (p.Tyr1323Phe) c.3305A>T (p.Tyr1102Phe) c.7820A>T (p.Tyr2607Phe) | |
| 5 | g.13776594T>C | CA334731 | DNAH5 | c.9218A>G (p.Tyr3073Cys) c.9173A>G (p.Tyr3058Cys) c.9326A>G (p.Tyr3109Cys) c.8231A>G (p.Tyr2744Cys) c.4415A>G (p.Tyr1472Cys) c.3968A>G (p.Tyr1323Cys) c.3305A>G (p.Tyr1102Cys) c.7820A>G (p.Tyr2607Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776594T>G | CA359209070 | DNAH5 | c.9218A>C (p.Tyr3073Ser) c.9173A>C (p.Tyr3058Ser) c.9326A>C (p.Tyr3109Ser) c.8231A>C (p.Tyr2744Ser) c.4415A>C (p.Tyr1472Ser) c.3968A>C (p.Tyr1323Ser) c.3305A>C (p.Tyr1102Ser) c.7820A>C (p.Tyr2607Ser) | |
| 5 | g.13776594T= | CA1528435238 | DNAH5 | c.9218A= (p.Tyr3073=) c.9173A= (p.Tyr3058=) c.9326A= (p.Tyr3109=) c.8231A= (p.Tyr2744=) c.4415A= (p.Tyr1472=) c.3968A= (p.Tyr1323=) c.3305A= (p.Tyr1102=) c.7820A= (p.Tyr2607=) | |
| 5 | g.13776595A>C | CA359209071 | DNAH5 | c.9217T>G (p.Tyr3073Asp) c.9172T>G (p.Tyr3058Asp) c.9325T>G (p.Tyr3109Asp) c.8230T>G (p.Tyr2744Asp) c.4414T>G (p.Tyr1472Asp) c.3967T>G (p.Tyr1323Asp) c.3304T>G (p.Tyr1102Asp) c.7819T>G (p.Tyr2607Asp) | |
| 5 | g.13776595A>G | CA359209073 | DNAH5 | c.9217T>C (p.Tyr3073His) c.9172T>C (p.Tyr3058His) c.9325T>C (p.Tyr3109His) c.8230T>C (p.Tyr2744His) c.4414T>C (p.Tyr1472His) c.3967T>C (p.Tyr1323His) c.3304T>C (p.Tyr1102His) c.7819T>C (p.Tyr2607His) | |
| 5 | g.13776595A>T | CA359209076 | DNAH5 | c.9217T>A (p.Tyr3073Asn) c.9172T>A (p.Tyr3058Asn) c.9325T>A (p.Tyr3109Asn) c.8230T>A (p.Tyr2744Asn) c.4414T>A (p.Tyr1472Asn) c.3967T>A (p.Tyr1323Asn) c.3304T>A (p.Tyr1102Asn) c.7819T>A (p.Tyr2607Asn) | |
| 5 | g.13776596G>A | CA443535629 | DNAH5 | c.9216C>T (p.Asp3072=) c.9171C>T (p.Asp3057=) c.9324C>T (p.Asp3108=) c.8229C>T (p.Asp2743=) c.4413C>T (p.Asp1471=) c.3966C>T (p.Asp1322=) c.3303C>T (p.Asp1101=) c.7818C>T (p.Asp2606=) | ClinVar dbSNP |
| 5 | g.13776596G>C | CA3202593 | DNAH5 | c.9216C>G (p.Asp3072Glu) c.9171C>G (p.Asp3057Glu) c.9324C>G (p.Asp3108Glu) c.8229C>G (p.Asp2743Glu) c.4413C>G (p.Asp1471Glu) c.3966C>G (p.Asp1322Glu) c.3303C>G (p.Asp1101Glu) c.7818C>G (p.Asp2606Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776596G= | CA1528435244 | DNAH5 | c.9216C= (p.Asp3072=) c.9171C= (p.Asp3057=) c.9324C= (p.Asp3108=) c.8229C= (p.Asp2743=) c.4413C= (p.Asp1471=) c.3966C= (p.Asp1322=) c.3303C= (p.Asp1101=) c.7818C= (p.Asp2606=) | |
| 5 | g.13776596G>T | CA359209079 | DNAH5 | c.9216C>A (p.Asp3072Glu) c.9171C>A (p.Asp3057Glu) c.9324C>A (p.Asp3108Glu) c.8229C>A (p.Asp2743Glu) c.4413C>A (p.Asp1471Glu) c.3966C>A (p.Asp1322Glu) c.3303C>A (p.Asp1101Glu) c.7818C>A (p.Asp2606Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776597T>A | CA359209088 | DNAH5 | c.9215A>T (p.Asp3072Val) c.9170A>T (p.Asp3057Val) c.9323A>T (p.Asp3108Val) c.8228A>T (p.Asp2743Val) c.4412A>T (p.Asp1471Val) c.3965A>T (p.Asp1322Val) c.3302A>T (p.Asp1101Val) c.7817A>T (p.Asp2606Val) | |
| 5 | g.13776597T>C | CA359209087 | DNAH5 | c.9215A>G (p.Asp3072Gly) c.9170A>G (p.Asp3057Gly) c.9323A>G (p.Asp3108Gly) c.8228A>G (p.Asp2743Gly) c.4412A>G (p.Asp1471Gly) c.3965A>G (p.Asp1322Gly) c.3302A>G (p.Asp1101Gly) c.7817A>G (p.Asp2606Gly) | |
| 5 | g.13776597T>G | CA359209083 | DNAH5 | c.9215A>C (p.Asp3072Ala) c.9170A>C (p.Asp3057Ala) c.9323A>C (p.Asp3108Ala) c.8228A>C (p.Asp2743Ala) c.4412A>C (p.Asp1471Ala) c.3965A>C (p.Asp1322Ala) c.3302A>C (p.Asp1101Ala) c.7817A>C (p.Asp2606Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776597T= | CA1528435250 | DNAH5 | c.9215A= (p.Asp3072=) c.9170A= (p.Asp3057=) c.9323A= (p.Asp3108=) c.8228A= (p.Asp2743=) c.4412A= (p.Asp1471=) c.3965A= (p.Asp1322=) c.3302A= (p.Asp1101=) c.7817A= (p.Asp2606=) | |
| 5 | g.13776598C>A | CA359209089 | DNAH5 | c.9214G>T (p.Asp3072Tyr) c.9169G>T (p.Asp3057Tyr) c.9322G>T (p.Asp3108Tyr) c.8227G>T (p.Asp2743Tyr) c.4411G>T (p.Asp1471Tyr) c.3964G>T (p.Asp1322Tyr) c.3301G>T (p.Asp1101Tyr) c.7816G>T (p.Asp2606Tyr) | gnomAD v4 |
| 5 | g.13776598C= | CA1528435254 | DNAH5 | c.9214G= (p.Asp3072=) c.9169G= (p.Asp3057=) c.9322G= (p.Asp3108=) c.8227G= (p.Asp2743=) c.4411G= (p.Asp1471=) c.3964G= (p.Asp1322=) c.3301G= (p.Asp1101=) c.7816G= (p.Asp2606=) | |
| 5 | g.13776598C>G | CA359209100 | DNAH5 | c.9214G>C (p.Asp3072His) c.9169G>C (p.Asp3057His) c.9322G>C (p.Asp3108His) c.8227G>C (p.Asp2743His) c.4411G>C (p.Asp1471His) c.3964G>C (p.Asp1322His) c.3301G>C (p.Asp1101His) c.7816G>C (p.Asp2606His) | |
| 5 | g.13776598C>T | CA3202594 | DNAH5 | c.9214G>A (p.Asp3072Asn) c.9169G>A (p.Asp3057Asn) c.9322G>A (p.Asp3108Asn) c.8227G>A (p.Asp2743Asn) c.4411G>A (p.Asp1471Asn) c.3964G>A (p.Asp1322Asn) c.3301G>A (p.Asp1101Asn) c.7816G>A (p.Asp2606Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776599G>A | CA3202595 | DNAH5 | c.9213C>T (p.His3071=) c.9168C>T (p.His3056=) c.9321C>T (p.His3107=) c.8226C>T (p.His2742=) c.4410C>T (p.His1470=) c.3963C>T (p.His1321=) c.3300C>T (p.His1100=) c.7815C>T (p.His2605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776599G>C | CA359209108 | DNAH5 | c.9213C>G (p.His3071Gln) c.9168C>G (p.His3056Gln) c.9321C>G (p.His3107Gln) c.8226C>G (p.His2742Gln) c.4410C>G (p.His1470Gln) c.3963C>G (p.His1321Gln) c.3300C>G (p.His1100Gln) c.7815C>G (p.His2605Gln) | |
| 5 | g.13776599G= | CA1528435260 | DNAH5 | c.9213C= (p.His3071=) c.9168C= (p.His3056=) c.9321C= (p.His3107=) c.8226C= (p.His2742=) c.4410C= (p.His1470=) c.3963C= (p.His1321=) c.3300C= (p.His1100=) c.7815C= (p.His2605=) | |
| 5 | g.13776599G>T | CA359209113 | DNAH5 | c.9213C>A (p.His3071Gln) c.9168C>A (p.His3056Gln) c.9321C>A (p.His3107Gln) c.8226C>A (p.His2742Gln) c.4410C>A (p.His1470Gln) c.3963C>A (p.His1321Gln) c.3300C>A (p.His1100Gln) c.7815C>A (p.His2605Gln) | |
| 5 | g.13776600T>A | CA359209116 | DNAH5 | c.9212A>T (p.His3071Leu) c.9167A>T (p.His3056Leu) c.9320A>T (p.His3107Leu) c.8225A>T (p.His2742Leu) c.4409A>T (p.His1470Leu) c.3962A>T (p.His1321Leu) c.3299A>T (p.His1100Leu) c.7814A>T (p.His2605Leu) | |
| 5 | g.13776600T>C | CA359209117 | DNAH5 | c.9212A>G (p.His3071Arg) c.9167A>G (p.His3056Arg) c.9320A>G (p.His3107Arg) c.8225A>G (p.His2742Arg) c.4409A>G (p.His1470Arg) c.3962A>G (p.His1321Arg) c.3299A>G (p.His1100Arg) c.7814A>G (p.His2605Arg) | |
| 5 | g.13776600T>G | CA359209119 | DNAH5 | c.9212A>C (p.His3071Pro) c.9167A>C (p.His3056Pro) c.9320A>C (p.His3107Pro) c.8225A>C (p.His2742Pro) c.4409A>C (p.His1470Pro) c.3962A>C (p.His1321Pro) c.3299A>C (p.His1100Pro) c.7814A>C (p.His2605Pro) | |
| 5 | g.13776601G>A | CA359209124 | DNAH5 | c.9211C>T (p.His3071Tyr) c.9166C>T (p.His3056Tyr) c.9319C>T (p.His3107Tyr) c.8224C>T (p.His2742Tyr) c.4408C>T (p.His1470Tyr) c.3961C>T (p.His1321Tyr) c.3298C>T (p.His1100Tyr) c.7813C>T (p.His2605Tyr) | |
| 5 | g.13776601G>C | CA359209130 | DNAH5 | c.9211C>G (p.His3071Asp) c.9166C>G (p.His3056Asp) c.9319C>G (p.His3107Asp) c.8224C>G (p.His2742Asp) c.4408C>G (p.His1470Asp) c.3961C>G (p.His1321Asp) c.3298C>G (p.His1100Asp) c.7813C>G (p.His2605Asp) | |
| 5 | g.13776601G>T | CA359209133 | DNAH5 | c.9211C>A (p.His3071Asn) c.9166C>A (p.His3056Asn) c.9319C>A (p.His3107Asn) c.8224C>A (p.His2742Asn) c.4408C>A (p.His1470Asn) c.3961C>A (p.His1321Asn) c.3298C>A (p.His1100Asn) c.7813C>A (p.His2605Asn) | gnomAD v4 COSMIC |
| 5 | g.13776602C>A | CA443535637 | DNAH5 | c.9210G>T (p.Leu3070=) c.9165G>T (p.Leu3055=) c.9318G>T (p.Leu3106=) c.8223G>T (p.Leu2741=) c.4407G>T (p.Leu1469=) c.3960G>T (p.Leu1320=) c.3297G>T (p.Leu1099=) c.7812G>T (p.Leu2604=) | ClinVar dbSNP |
| 5 | g.13776602C= | CA1528435270 | DNAH5 | c.9210G= (p.Leu3070=) c.9165G= (p.Leu3055=) c.9318G= (p.Leu3106=) c.8223G= (p.Leu2741=) c.4407G= (p.Leu1469=) c.3960G= (p.Leu1320=) c.3297G= (p.Leu1099=) c.7812G= (p.Leu2604=) | |
| 5 | g.13776602C>G | CA443535638 | DNAH5 | c.9210G>C (p.Leu3070=) c.9165G>C (p.Leu3055=) c.9318G>C (p.Leu3106=) c.8223G>C (p.Leu2741=) c.4407G>C (p.Leu1469=) c.3960G>C (p.Leu1320=) c.3297G>C (p.Leu1099=) c.7812G>C (p.Leu2604=) | ClinVar dbSNP |
| 5 | g.13776602C>T | CA443535639 | DNAH5 | c.9210G>A (p.Leu3070=) c.9165G>A (p.Leu3055=) c.9318G>A (p.Leu3106=) c.8223G>A (p.Leu2741=) c.4407G>A (p.Leu1469=) c.3960G>A (p.Leu1320=) c.3297G>A (p.Leu1099=) c.7812G>A (p.Leu2604=) | |
| 5 | g.13776602_13776615delinsCAGGTTCTCATTGG | CA1528435272 | DNAH5 | c.9197_9210delinsCCAATGAGAACCTG (p.Thr3066=) c.9152_9165delinsCCAATGAGAACCTG (p.Thr3051=) c.9305_9318delinsCCAATGAGAACCTG (p.Thr3102=) c.8210_8223delinsCCAATGAGAACCTG (p.Thr2737=) c.4394_4407delinsCCAATGAGAACCTG (p.Thr1465=) c.3947_3960delinsCCAATGAGAACCTG (p.Thr1316=) c.3284_3297delinsCCAATGAGAACCTG (p.Thr1095=) c.7799_7812delinsCCAATGAGAACCTG (p.Thr2600=) | |
| 5 | g.13776603A>C | CA359209139 | DNAH5 | c.9209T>G (p.Leu3070Arg) c.9164T>G (p.Leu3055Arg) c.9317T>G (p.Leu3106Arg) c.8222T>G (p.Leu2741Arg) c.4406T>G (p.Leu1469Arg) c.3959T>G (p.Leu1320Arg) c.3296T>G (p.Leu1099Arg) c.7811T>G (p.Leu2604Arg) | |
| 5 | g.13776603A>G | CA359209136 | DNAH5 | c.9209T>C (p.Leu3070Pro) c.9164T>C (p.Leu3055Pro) c.9317T>C (p.Leu3106Pro) c.8222T>C (p.Leu2741Pro) c.4406T>C (p.Leu1469Pro) c.3959T>C (p.Leu1320Pro) c.3296T>C (p.Leu1099Pro) c.7811T>C (p.Leu2604Pro) | |
| 5 | g.13776603A>T | CA359209137 | DNAH5 | c.9209T>A (p.Leu3070Gln) c.9164T>A (p.Leu3055Gln) c.9317T>A (p.Leu3106Gln) c.8222T>A (p.Leu2741Gln) c.4406T>A (p.Leu1469Gln) c.3959T>A (p.Leu1320Gln) c.3296T>A (p.Leu1099Gln) c.7811T>A (p.Leu2604Gln) | |
| 5 | g.13776603_13776615del | CA1528435275 | DNAH5 | c.9197_9209del (p.Thr3066SerfsTer6) c.9152_9164del (p.Thr3051SerfsTer6) c.9305_9317del (p.Thr3102SerfsTer6) c.8210_8222del (p.Thr2737SerfsTer6) c.4394_4406del (p.Thr1465SerfsTer6) c.3947_3959del (p.Thr1316SerfsTer6) c.3284_3296del (p.Thr1095SerfsTer6) c.7799_7811del (p.Thr2600SerfsTer6) | dbSNP |
| 5 | g.13776604G>A | CA443535641 | DNAH5 | c.9208C>T (p.Leu3070=) c.9163C>T (p.Leu3055=) c.9316C>T (p.Leu3106=) c.8221C>T (p.Leu2741=) c.4405C>T (p.Leu1469=) c.3958C>T (p.Leu1320=) c.3295C>T (p.Leu1099=) c.7810C>T (p.Leu2604=) | |
| 5 | g.13776604G>C | CA359209140 | DNAH5 | c.9208C>G (p.Leu3070Val) c.9163C>G (p.Leu3055Val) c.9316C>G (p.Leu3106Val) c.8221C>G (p.Leu2741Val) c.4405C>G (p.Leu1469Val) c.3958C>G (p.Leu1320Val) c.3295C>G (p.Leu1099Val) c.7810C>G (p.Leu2604Val) | |
| 5 | g.13776604G>T | CA359209144 | DNAH5 | c.9208C>A (p.Leu3070Met) c.9163C>A (p.Leu3055Met) c.9316C>A (p.Leu3106Met) c.8221C>A (p.Leu2741Met) c.4405C>A (p.Leu1469Met) c.3958C>A (p.Leu1320Met) c.3295C>A (p.Leu1099Met) c.7810C>A (p.Leu2604Met) | |
| 5 | g.13776605G>A | CA443535643 | DNAH5 | c.9207C>T (p.Asn3069=) c.9162C>T (p.Asn3054=) c.9315C>T (p.Asn3105=) c.8220C>T (p.Asn2740=) c.4404C>T (p.Asn1468=) c.3957C>T (p.Asn1319=) c.3294C>T (p.Asn1098=) c.7809C>T (p.Asn2603=) | gnomAD v4 |
| 5 | g.13776605G>C | CA359209147 | DNAH5 | c.9207C>G (p.Asn3069Lys) c.9162C>G (p.Asn3054Lys) c.9315C>G (p.Asn3105Lys) c.8220C>G (p.Asn2740Lys) c.4404C>G (p.Asn1468Lys) c.3957C>G (p.Asn1319Lys) c.3294C>G (p.Asn1098Lys) c.7809C>G (p.Asn2603Lys) | |
| 5 | g.13776605G>T | CA359209148 | DNAH5 | c.9207C>A (p.Asn3069Lys) c.9162C>A (p.Asn3054Lys) c.9315C>A (p.Asn3105Lys) c.8220C>A (p.Asn2740Lys) c.4404C>A (p.Asn1468Lys) c.3957C>A (p.Asn1319Lys) c.3294C>A (p.Asn1098Lys) c.7809C>A (p.Asn2603Lys) | gnomAD v4 COSMIC |
| 5 | g.13776606T>A | CA359209154 | DNAH5 | c.9206A>T (p.Asn3069Ile) c.9161A>T (p.Asn3054Ile) c.9314A>T (p.Asn3105Ile) c.8219A>T (p.Asn2740Ile) c.4403A>T (p.Asn1468Ile) c.3956A>T (p.Asn1319Ile) c.3293A>T (p.Asn1098Ile) c.7808A>T (p.Asn2603Ile) | |
| 5 | g.13776606T>C | CA359209156 | DNAH5 | c.9206A>G (p.Asn3069Ser) c.9161A>G (p.Asn3054Ser) c.9314A>G (p.Asn3105Ser) c.8219A>G (p.Asn2740Ser) c.4403A>G (p.Asn1468Ser) c.3956A>G (p.Asn1319Ser) c.3293A>G (p.Asn1098Ser) c.7808A>G (p.Asn2603Ser) | gnomAD v4 COSMIC |
| 5 | g.13776606T>G | CA359209160 | DNAH5 | c.9206A>C (p.Asn3069Thr) c.9161A>C (p.Asn3054Thr) c.9314A>C (p.Asn3105Thr) c.8219A>C (p.Asn2740Thr) c.4403A>C (p.Asn1468Thr) c.3956A>C (p.Asn1319Thr) c.3293A>C (p.Asn1098Thr) c.7808A>C (p.Asn2603Thr) | |
| 5 | g.13776607T>A | CA359209163 | DNAH5 | c.9205A>T (p.Asn3069Tyr) c.9160A>T (p.Asn3054Tyr) c.9313A>T (p.Asn3105Tyr) c.8218A>T (p.Asn2740Tyr) c.4402A>T (p.Asn1468Tyr) c.3955A>T (p.Asn1319Tyr) c.3292A>T (p.Asn1098Tyr) c.7807A>T (p.Asn2603Tyr) | |
| 5 | g.13776607T>C | CA359209167 | DNAH5 | c.9205A>G (p.Asn3069Asp) c.9160A>G (p.Asn3054Asp) c.9313A>G (p.Asn3105Asp) c.8218A>G (p.Asn2740Asp) c.4402A>G (p.Asn1468Asp) c.3955A>G (p.Asn1319Asp) c.3292A>G (p.Asn1098Asp) c.7807A>G (p.Asn2603Asp) | |
| 5 | g.13776607T>G | CA359209169 | DNAH5 | c.9205A>C (p.Asn3069His) c.9160A>C (p.Asn3054His) c.9313A>C (p.Asn3105His) c.8218A>C (p.Asn2740His) c.4402A>C (p.Asn1468His) c.3955A>C (p.Asn1319His) c.3292A>C (p.Asn1098His) c.7807A>C (p.Asn2603His) | |
| 5 | g.13776608C>A | CA359209172 | DNAH5 | c.9204G>T (p.Glu3068Asp) c.9159G>T (p.Glu3053Asp) c.9312G>T (p.Glu3104Asp) c.8217G>T (p.Glu2739Asp) c.4401G>T (p.Glu1467Asp) c.3954G>T (p.Glu1318Asp) c.3291G>T (p.Glu1097Asp) c.7806G>T (p.Glu2602Asp) | |
| 5 | g.13776608C>G | CA359209173 | DNAH5 | c.9204G>C (p.Glu3068Asp) c.9159G>C (p.Glu3053Asp) c.9312G>C (p.Glu3104Asp) c.8217G>C (p.Glu2739Asp) c.4401G>C (p.Glu1467Asp) c.3954G>C (p.Glu1318Asp) c.3291G>C (p.Glu1097Asp) c.7806G>C (p.Glu2602Asp) | |
| 5 | g.13776608C>T | CA443535649 | DNAH5 | c.9204G>A (p.Glu3068=) c.9159G>A (p.Glu3053=) c.9312G>A (p.Glu3104=) c.8217G>A (p.Glu2739=) c.4401G>A (p.Glu1467=) c.3954G>A (p.Glu1318=) c.3291G>A (p.Glu1097=) c.7806G>A (p.Glu2602=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776609T>A | CA359209182 | DNAH5 | c.9203A>T (p.Glu3068Val) c.9158A>T (p.Glu3053Val) c.9311A>T (p.Glu3104Val) c.8216A>T (p.Glu2739Val) c.4400A>T (p.Glu1467Val) c.3953A>T (p.Glu1318Val) c.3290A>T (p.Glu1097Val) c.7805A>T (p.Glu2602Val) | |
| 5 | g.13776609T>C | CA3202596 | DNAH5 | c.9203A>G (p.Glu3068Gly) c.9158A>G (p.Glu3053Gly) c.9311A>G (p.Glu3104Gly) c.8216A>G (p.Glu2739Gly) c.4400A>G (p.Glu1467Gly) c.3953A>G (p.Glu1318Gly) c.3290A>G (p.Glu1097Gly) c.7805A>G (p.Glu2602Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776609T>G | CA359209176 | DNAH5 | c.9203A>C (p.Glu3068Ala) c.9158A>C (p.Glu3053Ala) c.9311A>C (p.Glu3104Ala) c.8216A>C (p.Glu2739Ala) c.4400A>C (p.Glu1467Ala) c.3953A>C (p.Glu1318Ala) c.3290A>C (p.Glu1097Ala) c.7805A>C (p.Glu2602Ala) | |
| 5 | g.13776609T= | CA1528435279 | DNAH5 | c.9203A= (p.Glu3068=) c.9158A= (p.Glu3053=) c.9311A= (p.Glu3104=) c.8216A= (p.Glu2739=) c.4400A= (p.Glu1467=) c.3953A= (p.Glu1318=) c.3290A= (p.Glu1097=) c.7805A= (p.Glu2602=) | |
| 5 | g.13776610C>A | CA359209185 | DNAH5 | c.9202G>T (p.Glu3068Ter) c.9157G>T (p.Glu3053Ter) c.9310G>T (p.Glu3104Ter) c.8215G>T (p.Glu2739Ter) c.4399G>T (p.Glu1467Ter) c.3952G>T (p.Glu1318Ter) c.3289G>T (p.Glu1097Ter) c.7804G>T (p.Glu2602Ter) | |
| 5 | g.13776610C>G | CA359209183 | DNAH5 | c.9202G>C (p.Glu3068Gln) c.9157G>C (p.Glu3053Gln) c.9310G>C (p.Glu3104Gln) c.8215G>C (p.Glu2739Gln) c.4399G>C (p.Glu1467Gln) c.3952G>C (p.Glu1318Gln) c.3289G>C (p.Glu1097Gln) c.7804G>C (p.Glu2602Gln) | |
| 5 | g.13776610C>T | CA359209184 | DNAH5 | c.9202G>A (p.Glu3068Lys) c.9157G>A (p.Glu3053Lys) c.9310G>A (p.Glu3104Lys) c.8215G>A (p.Glu2739Lys) c.4399G>A (p.Glu1467Lys) c.3952G>A (p.Glu1318Lys) c.3289G>A (p.Glu1097Lys) c.7804G>A (p.Glu2602Lys) | |
| 5 | g.13776611A>C | CA359209186 | DNAH5 | c.9201T>G (p.Asn3067Lys) c.9156T>G (p.Asn3052Lys) c.9309T>G (p.Asn3103Lys) c.8214T>G (p.Asn2738Lys) c.4398T>G (p.Asn1466Lys) c.3951T>G (p.Asn1317Lys) c.3288T>G (p.Asn1096Lys) c.7803T>G (p.Asn2601Lys) | gnomAD v4 |
| 5 | g.13776611A>G | CA443535651 | DNAH5 | c.9201T>C (p.Asn3067=) c.9156T>C (p.Asn3052=) c.9309T>C (p.Asn3103=) c.8214T>C (p.Asn2738=) c.4398T>C (p.Asn1466=) c.3951T>C (p.Asn1317=) c.3288T>C (p.Asn1096=) c.7803T>C (p.Asn2601=) | ClinVar |
| 5 | g.13776611A>T | CA359209187 | DNAH5 | c.9201T>A (p.Asn3067Lys) c.9156T>A (p.Asn3052Lys) c.9309T>A (p.Asn3103Lys) c.8214T>A (p.Asn2738Lys) c.4398T>A (p.Asn1466Lys) c.3951T>A (p.Asn1317Lys) c.3288T>A (p.Asn1096Lys) c.7803T>A (p.Asn2601Lys) | gnomAD v4 |
| 5 | g.13776612T>A | CA359209190 | DNAH5 | c.9200A>T (p.Asn3067Ile) c.9155A>T (p.Asn3052Ile) c.9308A>T (p.Asn3103Ile) c.8213A>T (p.Asn2738Ile) c.4397A>T (p.Asn1466Ile) c.3950A>T (p.Asn1317Ile) c.3287A>T (p.Asn1096Ile) c.7802A>T (p.Asn2601Ile) | |
| 5 | g.13776612T>C | CA113937736 | DNAH5 | c.9200A>G (p.Asn3067Ser) c.9155A>G (p.Asn3052Ser) c.9308A>G (p.Asn3103Ser) c.8213A>G (p.Asn2738Ser) c.4397A>G (p.Asn1466Ser) c.3950A>G (p.Asn1317Ser) c.3287A>G (p.Asn1096Ser) c.7802A>G (p.Asn2601Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776612T>G | CA359209192 | DNAH5 | c.9200A>C (p.Asn3067Thr) c.9155A>C (p.Asn3052Thr) c.9308A>C (p.Asn3103Thr) c.8213A>C (p.Asn2738Thr) c.4397A>C (p.Asn1466Thr) c.3950A>C (p.Asn1317Thr) c.3287A>C (p.Asn1096Thr) c.7802A>C (p.Asn2601Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776612T= | CA1528435287 | DNAH5 | c.9200A= (p.Asn3067=) c.9155A= (p.Asn3052=) c.9308A= (p.Asn3103=) c.8213A= (p.Asn2738=) c.4397A= (p.Asn1466=) c.3950A= (p.Asn1317=) c.3287A= (p.Asn1096=) c.7802A= (p.Asn2601=) | |
| 5 | g.13776613T>A | CA359209193 | DNAH5 | c.9199A>T (p.Asn3067Tyr) c.9154A>T (p.Asn3052Tyr) c.9307A>T (p.Asn3103Tyr) c.8212A>T (p.Asn2738Tyr) c.4396A>T (p.Asn1466Tyr) c.3949A>T (p.Asn1317Tyr) c.3286A>T (p.Asn1096Tyr) c.7801A>T (p.Asn2601Tyr) | |
| 5 | g.13776613T>C | CA359209195 | DNAH5 | c.9199A>G (p.Asn3067Asp) c.9154A>G (p.Asn3052Asp) c.9307A>G (p.Asn3103Asp) c.8212A>G (p.Asn2738Asp) c.4396A>G (p.Asn1466Asp) c.3949A>G (p.Asn1317Asp) c.3286A>G (p.Asn1096Asp) c.7801A>G (p.Asn2601Asp) | |
| 5 | g.13776613T>G | CA359209197 | DNAH5 | c.9199A>C (p.Asn3067His) c.9154A>C (p.Asn3052His) c.9307A>C (p.Asn3103His) c.8212A>C (p.Asn2738His) c.4396A>C (p.Asn1466His) c.3949A>C (p.Asn1317His) c.3286A>C (p.Asn1096His) c.7801A>C (p.Asn2601His) | |
| 5 | g.13776613_13776614delinsTG | CA1528435290 | DNAH5 | c.9198_9199delinsCA (p.Thr3066=) c.9153_9154delinsCA (p.Thr3051=) c.9306_9307delinsCA (p.Thr3102=) c.8211_8212delinsCA (p.Thr2737=) c.4395_4396delinsCA (p.Thr1465=) c.3948_3949delinsCA (p.Thr1316=) c.3285_3286delinsCA (p.Thr1095=) c.7800_7801delinsCA (p.Thr2600=) | |
| 5 | g.13776614G>A | CA443535658 | DNAH5 | c.9198C>T (p.Thr3066=) c.9153C>T (p.Thr3051=) c.9306C>T (p.Thr3102=) c.8211C>T (p.Thr2737=) c.4395C>T (p.Thr1465=) c.3948C>T (p.Thr1316=) c.3285C>T (p.Thr1095=) c.7800C>T (p.Thr2600=) | |
| 5 | g.13776614G>C | CA443535657 | DNAH5 | c.9198C>G (p.Thr3066=) c.9153C>G (p.Thr3051=) c.9306C>G (p.Thr3102=) c.8211C>G (p.Thr2737=) c.4395C>G (p.Thr1465=) c.3948C>G (p.Thr1316=) c.3285C>G (p.Thr1095=) c.7800C>G (p.Thr2600=) | |
| 5 | g.13776614G>T | CA443535656 | DNAH5 | c.9198C>A (p.Thr3066=) c.9153C>A (p.Thr3051=) c.9306C>A (p.Thr3102=) c.8211C>A (p.Thr2737=) c.4395C>A (p.Thr1465=) c.3948C>A (p.Thr1316=) c.3285C>A (p.Thr1095=) c.7800C>A (p.Thr2600=) | gnomAD v4 |
| 5 | g.13776615del | CA1528435292 | DNAH5 | c.9198del (p.Asn3067MetfsTer9) c.9153del (p.Asn3052MetfsTer9) c.9306del (p.Asn3103MetfsTer9) c.8211del (p.Asn2738MetfsTer9) c.4395del (p.Asn1466MetfsTer9) c.3948del (p.Asn1317MetfsTer9) c.3285del (p.Asn1096MetfsTer9) c.7800del (p.Asn2601MetfsTer9) | dbSNP |
| 5 | g.13776615G>A | CA359209199 | DNAH5 | c.9197C>T (p.Thr3066Ile) c.9152C>T (p.Thr3051Ile) c.9305C>T (p.Thr3102Ile) c.8210C>T (p.Thr2737Ile) c.4394C>T (p.Thr1465Ile) c.3947C>T (p.Thr1316Ile) c.3284C>T (p.Thr1095Ile) c.7799C>T (p.Thr2600Ile) | |
| 5 | g.13776615G>C | CA359209202 | DNAH5 | c.9197C>G (p.Thr3066Ser) c.9152C>G (p.Thr3051Ser) c.9305C>G (p.Thr3102Ser) c.8210C>G (p.Thr2737Ser) c.4394C>G (p.Thr1465Ser) c.3947C>G (p.Thr1316Ser) c.3284C>G (p.Thr1095Ser) c.7799C>G (p.Thr2600Ser) | |
| 5 | g.13776615G>T | CA359209207 | DNAH5 | c.9197C>A (p.Thr3066Asn) c.9152C>A (p.Thr3051Asn) c.9305C>A (p.Thr3102Asn) c.8210C>A (p.Thr2737Asn) c.4394C>A (p.Thr1465Asn) c.3947C>A (p.Thr1316Asn) c.3284C>A (p.Thr1095Asn) c.7799C>A (p.Thr2600Asn) | |
| 5 | g.13776616T>A | CA359209224 | DNAH5 | c.9196A>T (p.Thr3066Ser) c.9151A>T (p.Thr3051Ser) c.9304A>T (p.Thr3102Ser) c.8209A>T (p.Thr2737Ser) c.4393A>T (p.Thr1465Ser) c.3946A>T (p.Thr1316Ser) c.3283A>T (p.Thr1095Ser) c.7798A>T (p.Thr2600Ser) | |
| 5 | g.13776616T>C | CA359209211 | DNAH5 | c.9196A>G (p.Thr3066Ala) c.9151A>G (p.Thr3051Ala) c.9304A>G (p.Thr3102Ala) c.8209A>G (p.Thr2737Ala) c.4393A>G (p.Thr1465Ala) c.3946A>G (p.Thr1316Ala) c.3283A>G (p.Thr1095Ala) c.7798A>G (p.Thr2600Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776616T>G | CA359209210 | DNAH5 | c.9196A>C (p.Thr3066Pro) c.9151A>C (p.Thr3051Pro) c.9304A>C (p.Thr3102Pro) c.8209A>C (p.Thr2737Pro) c.4393A>C (p.Thr1465Pro) c.3946A>C (p.Thr1316Pro) c.3283A>C (p.Thr1095Pro) c.7798A>C (p.Thr2600Pro) | |
| 5 | g.13776616T= | CA1528435295 | DNAH5 | c.9196A= (p.Thr3066=) c.9151A= (p.Thr3051=) c.9304A= (p.Thr3102=) c.8209A= (p.Thr2737=) c.4393A= (p.Thr1465=) c.3946A= (p.Thr1316=) c.3283A= (p.Thr1095=) c.7798A= (p.Thr2600=) | |
| 5 | g.13776617A>C | CA443535662 | DNAH5 | c.9195T>G (p.Pro3065=) c.9150T>G (p.Pro3050=) c.9303T>G (p.Pro3101=) c.8208T>G (p.Pro2736=) c.4392T>G (p.Pro1464=) c.3945T>G (p.Pro1315=) c.3282T>G (p.Pro1094=) c.7797T>G (p.Pro2599=) | |
| 5 | g.13776617A>G | CA443535665 | DNAH5 | c.9195T>C (p.Pro3065=) c.9150T>C (p.Pro3050=) c.9303T>C (p.Pro3101=) c.8208T>C (p.Pro2736=) c.4392T>C (p.Pro1464=) c.3945T>C (p.Pro1315=) c.3282T>C (p.Pro1094=) c.7797T>C (p.Pro2599=) | |
| 5 | g.13776617A>T | CA443535663 | DNAH5 | c.9195T>A (p.Pro3065=) c.9150T>A (p.Pro3050=) c.9303T>A (p.Pro3101=) c.8208T>A (p.Pro2736=) c.4392T>A (p.Pro1464=) c.3945T>A (p.Pro1315=) c.3282T>A (p.Pro1094=) c.7797T>A (p.Pro2599=) | |
| 5 | g.13776618G>A | CA359209225 | DNAH5 | c.9194C>T (p.Pro3065Leu) c.9149C>T (p.Pro3050Leu) c.9302C>T (p.Pro3101Leu) c.8207C>T (p.Pro2736Leu) c.4391C>T (p.Pro1464Leu) c.3944C>T (p.Pro1315Leu) c.3281C>T (p.Pro1094Leu) c.7796C>T (p.Pro2599Leu) | gnomAD v4 |
| 5 | g.13776618G>C | CA359209227 | DNAH5 | c.9194C>G (p.Pro3065Arg) c.9149C>G (p.Pro3050Arg) c.9302C>G (p.Pro3101Arg) c.8207C>G (p.Pro2736Arg) c.4391C>G (p.Pro1464Arg) c.3944C>G (p.Pro1315Arg) c.3281C>G (p.Pro1094Arg) c.7796C>G (p.Pro2599Arg) | |
| 5 | g.13776618G>T | CA359209232 | DNAH5 | c.9194C>A (p.Pro3065His) c.9149C>A (p.Pro3050His) c.9302C>A (p.Pro3101His) c.8207C>A (p.Pro2736His) c.4391C>A (p.Pro1464His) c.3944C>A (p.Pro1315His) c.3281C>A (p.Pro1094His) c.7796C>A (p.Pro2599His) | |
| 5 | g.13776619G>A | CA359209234 | DNAH5 | c.9193C>T (p.Pro3065Ser) c.9148C>T (p.Pro3050Ser) c.9301C>T (p.Pro3101Ser) c.8206C>T (p.Pro2736Ser) c.4390C>T (p.Pro1464Ser) c.3943C>T (p.Pro1315Ser) c.3280C>T (p.Pro1094Ser) c.7795C>T (p.Pro2599Ser) | COSMIC |
| 5 | g.13776619G>C | CA359209236 | DNAH5 | c.9193C>G (p.Pro3065Ala) c.9148C>G (p.Pro3050Ala) c.9301C>G (p.Pro3101Ala) c.8206C>G (p.Pro2736Ala) c.4390C>G (p.Pro1464Ala) c.3943C>G (p.Pro1315Ala) c.3280C>G (p.Pro1094Ala) c.7795C>G (p.Pro2599Ala) | |
| 5 | g.13776619G>T | CA359209238 | DNAH5 | c.9193C>A (p.Pro3065Thr) c.9148C>A (p.Pro3050Thr) c.9301C>A (p.Pro3101Thr) c.8206C>A (p.Pro2736Thr) c.4390C>A (p.Pro1464Thr) c.3943C>A (p.Pro1315Thr) c.3280C>A (p.Pro1094Thr) c.7795C>A (p.Pro2599Thr) | |
| 5 | g.13776620A= | CA1528435296 | DNAH5 | c.9192T= (p.Leu3064=) c.9147T= (p.Leu3049=) c.9300T= (p.Leu3100=) c.8205T= (p.Leu2735=) c.4389T= (p.Leu1463=) c.3942T= (p.Leu1314=) c.3279T= (p.Leu1093=) c.7794T= (p.Leu2598=) n.9186T= | |
| 5 | g.13776620A>C | CA443535670 | DNAH5 | c.9192T>G (p.Leu3064=) c.9147T>G (p.Leu3049=) c.9300T>G (p.Leu3100=) c.8205T>G (p.Leu2735=) c.4389T>G (p.Leu1463=) c.3942T>G (p.Leu1314=) c.3279T>G (p.Leu1093=) c.7794T>G (p.Leu2598=) n.9186T>G | gnomAD v4 |
| 5 | g.13776620A>G | CA443535672 | DNAH5 | c.9192T>C (p.Leu3064=) c.9147T>C (p.Leu3049=) c.9300T>C (p.Leu3100=) c.8205T>C (p.Leu2735=) c.4389T>C (p.Leu1463=) c.3942T>C (p.Leu1314=) c.3279T>C (p.Leu1093=) c.7794T>C (p.Leu2598=) n.9186T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776620A>T | CA443535673 | DNAH5 | c.9192T>A (p.Leu3064=) c.9147T>A (p.Leu3049=) c.9300T>A (p.Leu3100=) c.8205T>A (p.Leu2735=) c.4389T>A (p.Leu1463=) c.3942T>A (p.Leu1314=) c.3279T>A (p.Leu1093=) c.7794T>A (p.Leu2598=) n.9186T>A | |
| 5 | g.13776621A= | CA1528435299 | DNAH5 | c.9191T= (p.Leu3064=) c.9146T= (p.Leu3049=) c.9299T= (p.Leu3100=) c.8204T= (p.Leu2735=) c.4388T= (p.Leu1463=) c.3941T= (p.Leu1314=) c.3278T= (p.Leu1093=) c.7793T= (p.Leu2598=) n.9185T= | |
| 5 | g.13776621A>C | CA359209239 | DNAH5 | c.9191T>G (p.Leu3064Arg) c.9146T>G (p.Leu3049Arg) c.9299T>G (p.Leu3100Arg) c.8204T>G (p.Leu2735Arg) c.4388T>G (p.Leu1463Arg) c.3941T>G (p.Leu1314Arg) c.3278T>G (p.Leu1093Arg) c.7793T>G (p.Leu2598Arg) n.9185T>G | |
| 5 | g.13776621A>G | CA359209240 | DNAH5 | c.9191T>C (p.Leu3064Pro) c.9146T>C (p.Leu3049Pro) c.9299T>C (p.Leu3100Pro) c.8204T>C (p.Leu2735Pro) c.4388T>C (p.Leu1463Pro) c.3941T>C (p.Leu1314Pro) c.3278T>C (p.Leu1093Pro) c.7793T>C (p.Leu2598Pro) n.9185T>C | |
| 5 | g.13776621A>T | CA359209244 | DNAH5 | c.9191T>A (p.Leu3064His) c.9146T>A (p.Leu3049His) c.9299T>A (p.Leu3100His) c.8204T>A (p.Leu2735His) c.4388T>A (p.Leu1463His) c.3941T>A (p.Leu1314His) c.3278T>A (p.Leu1093His) c.7793T>A (p.Leu2598His) n.9185T>A | dbSNP |
| 5 | g.13776622G>A | CA359209250 | DNAH5 | c.9190C>T (p.Leu3064Phe) c.9145C>T (p.Leu3049Phe) c.9298C>T (p.Leu3100Phe) c.8203C>T (p.Leu2735Phe) c.4387C>T (p.Leu1463Phe) c.3940C>T (p.Leu1314Phe) c.3277C>T (p.Leu1093Phe) c.7792C>T (p.Leu2598Phe) n.9184C>T | gnomAD v4 |
| 5 | g.13776622G>C | CA359209252 | DNAH5 | c.9190C>G (p.Leu3064Val) c.9145C>G (p.Leu3049Val) c.9298C>G (p.Leu3100Val) c.8203C>G (p.Leu2735Val) c.4387C>G (p.Leu1463Val) c.3940C>G (p.Leu1314Val) c.3277C>G (p.Leu1093Val) c.7792C>G (p.Leu2598Val) n.9184C>G | |
| 5 | g.13776622G>T | CA359209255 | DNAH5 | c.9190C>A (p.Leu3064Ile) c.9145C>A (p.Leu3049Ile) c.9298C>A (p.Leu3100Ile) c.8203C>A (p.Leu2735Ile) c.4387C>A (p.Leu1463Ile) c.3940C>A (p.Leu1314Ile) c.3277C>A (p.Leu1093Ile) c.7792C>A (p.Leu2598Ile) n.9184C>A | |
| 5 | g.13776623G>A | CA443535674 | DNAH5 | c.9189C>T (p.Cys3063=) c.9144C>T (p.Cys3048=) c.9297C>T (p.Cys3099=) c.8202C>T (p.Cys2734=) c.4386C>T (p.Cys1462=) c.3939C>T (p.Cys1313=) c.3276C>T (p.Cys1092=) c.7791C>T (p.Cys2597=) n.9183C>T | |
| 5 | g.13776623G>C | CA359209261 | DNAH5 | c.9189C>G (p.Cys3063Trp) c.9144C>G (p.Cys3048Trp) c.9297C>G (p.Cys3099Trp) c.8202C>G (p.Cys2734Trp) c.4386C>G (p.Cys1462Trp) c.3939C>G (p.Cys1313Trp) c.3276C>G (p.Cys1092Trp) c.7791C>G (p.Cys2597Trp) n.9183C>G | gnomAD v4 |
| 5 | g.13776623G>T | CA359209263 | DNAH5 | c.9189C>A (p.Cys3063Ter) c.9144C>A (p.Cys3048Ter) c.9297C>A (p.Cys3099Ter) c.8202C>A (p.Cys2734Ter) c.4386C>A (p.Cys1462Ter) c.3939C>A (p.Cys1313Ter) c.3276C>A (p.Cys1092Ter) c.7791C>A (p.Cys2597Ter) n.9183C>A | |
| 5 | g.13776624C>A | CA359209266 | DNAH5 | c.9188G>T (p.Cys3063Phe) c.9143G>T (p.Cys3048Phe) c.9296G>T (p.Cys3099Phe) c.8201G>T (p.Cys2734Phe) c.*75G>T (n.*75G>T) c.4385G>T (p.Cys1462Phe) c.3938G>T (p.Cys1313Phe) c.3275G>T (p.Cys1092Phe) c.7790G>T (p.Cys2597Phe) n.9182G>T n.9177G>T | |
| 5 | g.13776624C>G | CA359209267 | DNAH5 | c.9188G>C (p.Cys3063Ser) c.9143G>C (p.Cys3048Ser) c.9296G>C (p.Cys3099Ser) c.8201G>C (p.Cys2734Ser) c.*75G>C (n.*75G>C) c.4385G>C (p.Cys1462Ser) c.3938G>C (p.Cys1313Ser) c.3275G>C (p.Cys1092Ser) c.7790G>C (p.Cys2597Ser) n.9182G>C n.9177G>C | |
| 5 | g.13776624C>T | CA359209265 | DNAH5 | c.9188G>A (p.Cys3063Tyr) c.9143G>A (p.Cys3048Tyr) c.9296G>A (p.Cys3099Tyr) c.8201G>A (p.Cys2734Tyr) c.*75G>A (n.*75G>A) c.4385G>A (p.Cys1462Tyr) c.3938G>A (p.Cys1313Tyr) c.3275G>A (p.Cys1092Tyr) c.7790G>A (p.Cys2597Tyr) n.9182G>A n.9177G>A | |
| 5 | g.13776625A>C | CA359209268 | DNAH5 | c.9187T>G (p.Cys3063Gly) c.9142T>G (p.Cys3048Gly) c.9295T>G (p.Cys3099Gly) c.8200T>G (p.Cys2734Gly) c.*74T>G (n.*74T>G) c.4384T>G (p.Cys1462Gly) c.3937T>G (p.Cys1313Gly) c.3274T>G (p.Cys1092Gly) c.7789T>G (p.Cys2597Gly) n.9181T>G n.9176T>G | |
| 5 | g.13776625A>G | CA359209272 | DNAH5 | c.9187T>C (p.Cys3063Arg) c.9142T>C (p.Cys3048Arg) c.9295T>C (p.Cys3099Arg) c.8200T>C (p.Cys2734Arg) c.*74T>C (n.*74T>C) c.4384T>C (p.Cys1462Arg) c.3937T>C (p.Cys1313Arg) c.3274T>C (p.Cys1092Arg) c.7789T>C (p.Cys2597Arg) n.9181T>C n.9176T>C | gnomAD v4 |
| 5 | g.13776625A>T | CA359209274 | DNAH5 | c.9187T>A (p.Cys3063Ser) c.9142T>A (p.Cys3048Ser) c.9295T>A (p.Cys3099Ser) c.8200T>A (p.Cys2734Ser) c.*74T>A (n.*74T>A) c.4384T>A (p.Cys1462Ser) c.3937T>A (p.Cys1313Ser) c.3274T>A (p.Cys1092Ser) c.7789T>A (p.Cys2597Ser) n.9181T>A n.9176T>A | |
| 5 | g.13776626C>A | CA359209275 | DNAH5 | c.9186G>T (p.Arg3062Ser) c.9141G>T (p.Arg3047Ser) c.9294G>T (p.Arg3098Ser) c.8199G>T (p.Arg2733Ser) c.*73G>T (n.*73G>T) c.4383G>T (p.Arg1461Ser) c.3936G>T (p.Arg1312Ser) c.3273G>T (p.Arg1091Ser) c.7788G>T (p.Arg2596Ser) n.9180G>T n.9175G>T | gnomAD v4 |
| 5 | g.13776626C>G | CA359209276 | DNAH5 | c.9186G>C (p.Arg3062Ser) c.9141G>C (p.Arg3047Ser) c.9294G>C (p.Arg3098Ser) c.8199G>C (p.Arg2733Ser) c.*73G>C (n.*73G>C) c.4383G>C (p.Arg1461Ser) c.3936G>C (p.Arg1312Ser) c.3273G>C (p.Arg1091Ser) c.7788G>C (p.Arg2596Ser) n.9180G>C n.9175G>C | |
| 5 | g.13776626C>T | CA443535680 | DNAH5 | c.9186G>A (p.Arg3062=) c.9141G>A (p.Arg3047=) c.9294G>A (p.Arg3098=) c.8199G>A (p.Arg2733=) c.*73G>A (n.*73G>A) c.4383G>A (p.Arg1461=) c.3936G>A (p.Arg1312=) c.3273G>A (p.Arg1091=) c.7788G>A (p.Arg2596=) n.9180G>A n.9175G>A | ClinVar |
| 5 | g.13776627del | CA2697547083 | DNAH5 | c.9186del (p.Arg3062SerfsTer14) c.9141del (p.Arg3047SerfsTer14) c.9294del (p.Arg3098SerfsTer14) c.8199del (p.Arg2733SerfsTer14) c.*73del (n.*73del) c.4383del (p.Arg1461SerfsTer14) c.3936del (p.Arg1312SerfsTer14) c.3273del (p.Arg1091SerfsTer14) c.7788del (p.Arg2596SerfsTer14) n.9180del n.9175del | ClinVar |
| 5 | g.13776627C>A | CA359209277 | DNAH5 | c.9185G>T (p.Arg3062Met) c.9140G>T (p.Arg3047Met) c.9293G>T (p.Arg3098Met) c.8198G>T (p.Arg2733Met) c.*72G>T (n.*72G>T) c.4382G>T (p.Arg1461Met) c.3935G>T (p.Arg1312Met) c.3272G>T (p.Arg1091Met) c.7787G>T (p.Arg2596Met) n.9179G>T n.9174G>T | |
| 5 | g.13776627C>G | CA359209278 | DNAH5 | c.9185G>C (p.Arg3062Thr) c.9140G>C (p.Arg3047Thr) c.9293G>C (p.Arg3098Thr) c.8198G>C (p.Arg2733Thr) c.*72G>C (n.*72G>C) c.4382G>C (p.Arg1461Thr) c.3935G>C (p.Arg1312Thr) c.3272G>C (p.Arg1091Thr) c.7787G>C (p.Arg2596Thr) n.9179G>C n.9174G>C | |
| 5 | g.13776627C>T | CA359209279 | DNAH5 | c.9185G>A (p.Arg3062Lys) c.9140G>A (p.Arg3047Lys) c.9293G>A (p.Arg3098Lys) c.8198G>A (p.Arg2733Lys) c.*72G>A (n.*72G>A) c.4382G>A (p.Arg1461Lys) c.3935G>A (p.Arg1312Lys) c.3272G>A (p.Arg1091Lys) c.7787G>A (p.Arg2596Lys) n.9179G>A n.9174G>A | |
| 5 | g.13776628T>A | CA359209280 | DNAH5 | c.9184A>T (p.Arg3062Trp) c.9139A>T (p.Arg3047Trp) c.9292A>T (p.Arg3098Trp) c.8197A>T (p.Arg2733Trp) c.*71A>T (n.*71A>T) c.4381A>T (p.Arg1461Trp) c.3934A>T (p.Arg1312Trp) c.3271A>T (p.Arg1091Trp) c.7786A>T (p.Arg2596Trp) n.9178A>T n.9173A>T | |
| 5 | g.13776628T>C | CA113937742 | DNAH5 | c.9184A>G (p.Arg3062Gly) c.9139A>G (p.Arg3047Gly) c.9292A>G (p.Arg3098Gly) c.8197A>G (p.Arg2733Gly) c.*71A>G (n.*71A>G) c.4381A>G (p.Arg1461Gly) c.3934A>G (p.Arg1312Gly) c.3271A>G (p.Arg1091Gly) c.7786A>G (p.Arg2596Gly) n.9178A>G n.9173A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776628T>G | CA443535683 | DNAH5 | c.9184A>C (p.Arg3062=) c.9139A>C (p.Arg3047=) c.9292A>C (p.Arg3098=) c.8197A>C (p.Arg2733=) c.*71A>C (n.*71A>C) c.4381A>C (p.Arg1461=) c.3934A>C (p.Arg1312=) c.3271A>C (p.Arg1091=) c.7786A>C (p.Arg2596=) n.9178A>C n.9173A>C | |
| 5 | g.13776628T= | CA1528435303 | DNAH5 | c.9184A= (p.Arg3062=) c.9139A= (p.Arg3047=) c.9292A= (p.Arg3098=) c.8197A= (p.Arg2733=) c.*71A= (n.*71A=) c.4381A= (p.Arg1461=) c.3934A= (p.Arg1312=) c.3271A= (p.Arg1091=) c.7786A= (p.Arg2596=) n.9178A= n.9173A= | |
| 5 | g.13776629G>A | CA3202597 | DNAH5 | c.9183C>T (p.Pro3061=) c.9138C>T (p.Pro3046=) c.9291C>T (p.Pro3097=) c.8196C>T (p.Pro2732=) c.*70C>T (n.*70C>T) c.4380C>T (p.Pro1460=) c.3933C>T (p.Pro1311=) c.3270C>T (p.Pro1090=) c.7785C>T (p.Pro2595=) n.9177C>T n.9172C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.13776629G>C | CA443535685 | DNAH5 | c.9183C>G (p.Pro3061=) c.9138C>G (p.Pro3046=) c.9291C>G (p.Pro3097=) c.8196C>G (p.Pro2732=) c.*70C>G (n.*70C>G) c.4380C>G (p.Pro1460=) c.3933C>G (p.Pro1311=) c.3270C>G (p.Pro1090=) c.7785C>G (p.Pro2595=) n.9177C>G n.9172C>G | |
| 5 | g.13776629G= | CA1528435306 | DNAH5 | c.9183C= (p.Pro3061=) c.9138C= (p.Pro3046=) c.9291C= (p.Pro3097=) c.8196C= (p.Pro2732=) c.*70C= (n.*70C=) c.4380C= (p.Pro1460=) c.3933C= (p.Pro1311=) c.3270C= (p.Pro1090=) c.7785C= (p.Pro2595=) n.9177C= n.9172C= | |
| 5 | g.13776629G>T | CA443535686 | DNAH5 | c.9183C>A (p.Pro3061=) c.9138C>A (p.Pro3046=) c.9291C>A (p.Pro3097=) c.8196C>A (p.Pro2732=) c.*70C>A (n.*70C>A) c.4380C>A (p.Pro1460=) c.3933C>A (p.Pro1311=) c.3270C>A (p.Pro1090=) c.7785C>A (p.Pro2595=) n.9177C>A n.9172C>A | |
| 5 | g.13776630G>A | CA359209292 | DNAH5 | c.9182C>T (p.Pro3061Leu) c.9137C>T (p.Pro3046Leu) c.9290C>T (p.Pro3097Leu) c.8195C>T (p.Pro2732Leu) c.*69C>T (n.*69C>T) c.4379C>T (p.Pro1460Leu) c.3932C>T (p.Pro1311Leu) c.3269C>T (p.Pro1090Leu) c.7784C>T (p.Pro2595Leu) n.9176C>T n.9171C>T | dbSNP gnomAD v4 |
| 5 | g.13776630G>C | CA359209289 | DNAH5 | c.9182C>G (p.Pro3061Arg) c.9137C>G (p.Pro3046Arg) c.9290C>G (p.Pro3097Arg) c.8195C>G (p.Pro2732Arg) c.*69C>G (n.*69C>G) c.4379C>G (p.Pro1460Arg) c.3932C>G (p.Pro1311Arg) c.3269C>G (p.Pro1090Arg) c.7784C>G (p.Pro2595Arg) n.9176C>G n.9171C>G | |
| 5 | g.13776630G= | CA1528435311 | DNAH5 | c.9182C= (p.Pro3061=) c.9137C= (p.Pro3046=) c.9290C= (p.Pro3097=) c.8195C= (p.Pro2732=) c.*69C= (n.*69C=) c.4379C= (p.Pro1460=) c.3932C= (p.Pro1311=) c.3269C= (p.Pro1090=) c.7784C= (p.Pro2595=) n.9176C= n.9171C= | |
| 5 | g.13776630G>T | CA359209286 | DNAH5 | c.9182C>A (p.Pro3061His) c.9137C>A (p.Pro3046His) c.9290C>A (p.Pro3097His) c.8195C>A (p.Pro2732His) c.*69C>A (n.*69C>A) c.4379C>A (p.Pro1460His) c.3932C>A (p.Pro1311His) c.3269C>A (p.Pro1090His) c.7784C>A (p.Pro2595His) n.9176C>A n.9171C>A | gnomAD v4 |
| 5 | g.13776631G>A | CA359209298 | DNAH5 | c.9181C>T (p.Pro3061Ser) c.9136C>T (p.Pro3046Ser) c.9289C>T (p.Pro3097Ser) c.8194C>T (p.Pro2732Ser) c.*68C>T (n.*68C>T) c.4378C>T (p.Pro1460Ser) c.3931C>T (p.Pro1311Ser) c.3268C>T (p.Pro1090Ser) c.7783C>T (p.Pro2595Ser) n.9175C>T n.9170C>T | |
| 5 | g.13776631G>C | CA359209301 | DNAH5 | c.9181C>G (p.Pro3061Ala) c.9136C>G (p.Pro3046Ala) c.9289C>G (p.Pro3097Ala) c.8194C>G (p.Pro2732Ala) c.*68C>G (n.*68C>G) c.4378C>G (p.Pro1460Ala) c.3931C>G (p.Pro1311Ala) c.3268C>G (p.Pro1090Ala) c.7783C>G (p.Pro2595Ala) n.9175C>G n.9170C>G | |
| 5 | g.13776631G>T | CA359209304 | DNAH5 | c.9181C>A (p.Pro3061Thr) c.9136C>A (p.Pro3046Thr) c.9289C>A (p.Pro3097Thr) c.8194C>A (p.Pro2732Thr) c.*68C>A (n.*68C>A) c.4378C>A (p.Pro1460Thr) c.3931C>A (p.Pro1311Thr) c.3268C>A (p.Pro1090Thr) c.7783C>A (p.Pro2595Thr) n.9175C>A n.9170C>A | |
| 5 | g.13776632G>A | CA443535691 | DNAH5 | c.9180C>T (p.Phe3060=) c.9135C>T (p.Phe3045=) c.9288C>T (p.Phe3096=) c.8193C>T (p.Phe2731=) c.*67C>T (n.*67C>T) c.4377C>T (p.Phe1459=) c.3930C>T (p.Phe1310=) c.3267C>T (p.Phe1089=) c.7782C>T (p.Phe2594=) n.9174C>T n.9169C>T | COSMIC |
| 5 | g.13776632G>C | CA359209307 | DNAH5 | c.9180C>G (p.Phe3060Leu) c.9135C>G (p.Phe3045Leu) c.9288C>G (p.Phe3096Leu) c.8193C>G (p.Phe2731Leu) c.*67C>G (n.*67C>G) c.4377C>G (p.Phe1459Leu) c.3930C>G (p.Phe1310Leu) c.3267C>G (p.Phe1089Leu) c.7782C>G (p.Phe2594Leu) n.9174C>G n.9169C>G | gnomAD v4 |
| 5 | g.13776632G>T | CA359209314 | DNAH5 | c.9180C>A (p.Phe3060Leu) c.9135C>A (p.Phe3045Leu) c.9288C>A (p.Phe3096Leu) c.8193C>A (p.Phe2731Leu) c.*67C>A (n.*67C>A) c.4377C>A (p.Phe1459Leu) c.3930C>A (p.Phe1310Leu) c.3267C>A (p.Phe1089Leu) c.7782C>A (p.Phe2594Leu) n.9174C>A n.9169C>A | |
| 5 | g.13776633A>C | CA359209317 | DNAH5 | c.9179T>G (p.Phe3060Cys) c.9134T>G (p.Phe3045Cys) c.9287T>G (p.Phe3096Cys) c.8192T>G (p.Phe2731Cys) c.*66T>G (n.*66T>G) c.4376T>G (p.Phe1459Cys) c.3929T>G (p.Phe1310Cys) c.3266T>G (p.Phe1089Cys) c.7781T>G (p.Phe2594Cys) n.9173T>G n.9168T>G | |
| 5 | g.13776633A>G | CA359209319 | DNAH5 | c.9179T>C (p.Phe3060Ser) c.9134T>C (p.Phe3045Ser) c.9287T>C (p.Phe3096Ser) c.8192T>C (p.Phe2731Ser) c.*66T>C (n.*66T>C) c.4376T>C (p.Phe1459Ser) c.3929T>C (p.Phe1310Ser) c.3266T>C (p.Phe1089Ser) c.7781T>C (p.Phe2594Ser) n.9173T>C n.9168T>C | |
| 5 | g.13776633A>T | CA359209320 | DNAH5 | c.9179T>A (p.Phe3060Tyr) c.9134T>A (p.Phe3045Tyr) c.9287T>A (p.Phe3096Tyr) c.8192T>A (p.Phe2731Tyr) c.*66T>A (n.*66T>A) c.4376T>A (p.Phe1459Tyr) c.3929T>A (p.Phe1310Tyr) c.3266T>A (p.Phe1089Tyr) c.7781T>A (p.Phe2594Tyr) n.9173T>A n.9168T>A | |
| 5 | g.13776634A>C | CA359209321 | DNAH5 | c.9178T>G (p.Phe3060Val) c.9133T>G (p.Phe3045Val) c.9286T>G (p.Phe3096Val) c.8191T>G (p.Phe2731Val) c.*65T>G (n.*65T>G) c.4375T>G (p.Phe1459Val) c.3928T>G (p.Phe1310Val) c.3265T>G (p.Phe1089Val) c.7780T>G (p.Phe2594Val) n.9172T>G n.9167T>G | |
| 5 | g.13776634A>G | CA359209322 | DNAH5 | c.9178T>C (p.Phe3060Leu) c.9133T>C (p.Phe3045Leu) c.9286T>C (p.Phe3096Leu) c.8191T>C (p.Phe2731Leu) c.*65T>C (n.*65T>C) c.4375T>C (p.Phe1459Leu) c.3928T>C (p.Phe1310Leu) c.3265T>C (p.Phe1089Leu) c.7780T>C (p.Phe2594Leu) n.9172T>C n.9167T>C | |
| 5 | g.13776634A>T | CA359209323 | DNAH5 | c.9178T>A (p.Phe3060Ile) c.9133T>A (p.Phe3045Ile) c.9286T>A (p.Phe3096Ile) c.8191T>A (p.Phe2731Ile) c.*65T>A (n.*65T>A) c.4375T>A (p.Phe1459Ile) c.3928T>A (p.Phe1310Ile) c.3265T>A (p.Phe1089Ile) c.7780T>A (p.Phe2594Ile) n.9172T>A n.9167T>A | |
| 5 | g.13776635T>A | CA359209324 | DNAH5 | c.9177A>T (p.Glu3059Asp) c.9132A>T (p.Glu3044Asp) c.9285A>T (p.Glu3095Asp) c.8190A>T (p.Glu2730Asp) c.*64A>T (n.*64A>T) c.4374A>T (p.Glu1458Asp) c.3927A>T (p.Glu1309Asp) c.3264A>T (p.Glu1088Asp) c.7779A>T (p.Glu2593Asp) n.9171A>T n.9166A>T | |
| 5 | g.13776635T>C | CA443535696 | DNAH5 | c.9177A>G (p.Glu3059=) c.9132A>G (p.Glu3044=) c.9285A>G (p.Glu3095=) c.8190A>G (p.Glu2730=) c.*64A>G (n.*64A>G) c.4374A>G (p.Glu1458=) c.3927A>G (p.Glu1309=) c.3264A>G (p.Glu1088=) c.7779A>G (p.Glu2593=) n.9171A>G n.9166A>G | |
| 5 | g.13776635T>G | CA359209326 | DNAH5 | c.9177A>C (p.Glu3059Asp) c.9132A>C (p.Glu3044Asp) c.9285A>C (p.Glu3095Asp) c.8190A>C (p.Glu2730Asp) c.*64A>C (n.*64A>C) c.4374A>C (p.Glu1458Asp) c.3927A>C (p.Glu1309Asp) c.3264A>C (p.Glu1088Asp) c.7779A>C (p.Glu2593Asp) n.9171A>C n.9166A>C | |
| 5 | g.13776636T>A | CA359209335 | DNAH5 | c.9176A>T (p.Glu3059Val) c.9131A>T (p.Glu3044Val) c.9284A>T (p.Glu3095Val) c.8189A>T (p.Glu2730Val) c.*63A>T (n.*63A>T) c.4373A>T (p.Glu1458Val) c.3926A>T (p.Glu1309Val) c.3263A>T (p.Glu1088Val) c.7778A>T (p.Glu2593Val) n.9170A>T n.9165A>T | |
| 5 | g.13776636T>C | CA359209338 | DNAH5 | c.9176A>G (p.Glu3059Gly) c.9131A>G (p.Glu3044Gly) c.9284A>G (p.Glu3095Gly) c.8189A>G (p.Glu2730Gly) c.*63A>G (n.*63A>G) c.4373A>G (p.Glu1458Gly) c.3926A>G (p.Glu1309Gly) c.3263A>G (p.Glu1088Gly) c.7778A>G (p.Glu2593Gly) n.9170A>G n.9165A>G | COSMIC |
| 5 | g.13776636T>G | CA359209329 | DNAH5 | c.9176A>C (p.Glu3059Ala) c.9131A>C (p.Glu3044Ala) c.9284A>C (p.Glu3095Ala) c.8189A>C (p.Glu2730Ala) c.*63A>C (n.*63A>C) c.4373A>C (p.Glu1458Ala) c.3926A>C (p.Glu1309Ala) c.3263A>C (p.Glu1088Ala) c.7778A>C (p.Glu2593Ala) n.9170A>C n.9165A>C | |
| 5 | g.13776637C>A | CA359209350 | DNAH5 | c.9175G>T (p.Glu3059Ter) c.9130G>T (p.Glu3044Ter) c.9283G>T (p.Glu3095Ter) c.8188G>T (p.Glu2730Ter) c.*62G>T (n.*62G>T) c.4372G>T (p.Glu1458Ter) c.3925G>T (p.Glu1309Ter) c.3262G>T (p.Glu1088Ter) c.7777G>T (p.Glu2593Ter) n.9169G>T n.9164G>T | |
| 5 | g.13776637C= | CA1528435315 | DNAH5 | c.9175G= (p.Glu3059=) c.9130G= (p.Glu3044=) c.9283G= (p.Glu3095=) c.8188G= (p.Glu2730=) c.*62G= (n.*62G=) c.4372G= (p.Glu1458=) c.3925G= (p.Glu1309=) c.3262G= (p.Glu1088=) c.7777G= (p.Glu2593=) n.9169G= n.9164G= | |
| 5 | g.13776637C>G | CA359209356 | DNAH5 | c.9175G>C (p.Glu3059Gln) c.9130G>C (p.Glu3044Gln) c.9283G>C (p.Glu3095Gln) c.8188G>C (p.Glu2730Gln) c.*62G>C (n.*62G>C) c.4372G>C (p.Glu1458Gln) c.3925G>C (p.Glu1309Gln) c.3262G>C (p.Glu1088Gln) c.7777G>C (p.Glu2593Gln) n.9169G>C n.9164G>C | |
| 5 | g.13776637C>T | CA359209359 | DNAH5 | c.9175G>A (p.Glu3059Lys) c.9130G>A (p.Glu3044Lys) c.9283G>A (p.Glu3095Lys) c.8188G>A (p.Glu2730Lys) c.*62G>A (n.*62G>A) c.4372G>A (p.Glu1458Lys) c.3925G>A (p.Glu1309Lys) c.3262G>A (p.Glu1088Lys) c.7777G>A (p.Glu2593Lys) n.9169G>A n.9164G>A | |
| 5 | g.13776638T>A | CA359209363 | DNAH5 | c.9174A>T (p.Lys3058Asn) c.9129A>T (p.Lys3043Asn) c.9282A>T (p.Lys3094Asn) c.8187A>T (p.Lys2729Asn) c.*61A>T (n.*61A>T) c.4371A>T (p.Lys1457Asn) c.3924A>T (p.Lys1308Asn) c.3261A>T (p.Lys1087Asn) c.7776A>T (p.Lys2592Asn) n.9168A>T n.9163A>T | |
| 5 | g.13776638T>C | CA443535703 | DNAH5 | c.9174A>G (p.Lys3058=) c.9129A>G (p.Lys3043=) c.9282A>G (p.Lys3094=) c.8187A>G (p.Lys2729=) c.*61A>G (n.*61A>G) c.4371A>G (p.Lys1457=) c.3924A>G (p.Lys1308=) c.3261A>G (p.Lys1087=) c.7776A>G (p.Lys2592=) n.9168A>G n.9163A>G | |
| 5 | g.13776638T>G | CA359209368 | DNAH5 | c.9174A>C (p.Lys3058Asn) c.9129A>C (p.Lys3043Asn) c.9282A>C (p.Lys3094Asn) c.8187A>C (p.Lys2729Asn) c.*61A>C (n.*61A>C) c.4371A>C (p.Lys1457Asn) c.3924A>C (p.Lys1308Asn) c.3261A>C (p.Lys1087Asn) c.7776A>C (p.Lys2592Asn) n.9168A>C n.9163A>C | |
| 5 | g.13776643dup | CA1073394401 | DNAH5 | c.9174dup (p.Glu3059ArgfsTer10) c.9129dup (p.Glu3044ArgfsTer10) c.9282dup (p.Glu3095ArgfsTer10) c.8187dup (p.Glu2730ArgfsTer10) c.*61dup (n.*61dup) c.4371dup (p.Glu1458ArgfsTer10) c.3924dup (p.Glu1309ArgfsTer10) c.3261dup (p.Glu1088ArgfsTer10) c.7776dup (p.Glu2593ArgfsTer10) n.9168dup n.9163dup | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776639T>A | CA359209370 | DNAH5 | c.9173A>T (p.Lys3058Ile) c.9128A>T (p.Lys3043Ile) c.9281A>T (p.Lys3094Ile) c.8186A>T (p.Lys2729Ile) c.*60A>T (n.*60A>T) c.4370A>T (p.Lys1457Ile) c.3923A>T (p.Lys1308Ile) c.3260A>T (p.Lys1087Ile) c.7775A>T (p.Lys2592Ile) n.9167A>T n.9162A>T | |
| 5 | g.13776639T>C | CA359209373 | DNAH5 | c.9173A>G (p.Lys3058Arg) c.9128A>G (p.Lys3043Arg) c.9281A>G (p.Lys3094Arg) c.8186A>G (p.Lys2729Arg) c.*60A>G (n.*60A>G) c.4370A>G (p.Lys1457Arg) c.3923A>G (p.Lys1308Arg) c.3260A>G (p.Lys1087Arg) c.7775A>G (p.Lys2592Arg) n.9167A>G n.9162A>G | |
| 5 | g.13776639T>G | CA359209375 | DNAH5 | c.9173A>C (p.Lys3058Thr) c.9128A>C (p.Lys3043Thr) c.9281A>C (p.Lys3094Thr) c.8186A>C (p.Lys2729Thr) c.*60A>C (n.*60A>C) c.4370A>C (p.Lys1457Thr) c.3923A>C (p.Lys1308Thr) c.3260A>C (p.Lys1087Thr) c.7775A>C (p.Lys2592Thr) n.9167A>C n.9162A>C | |
| 5 | g.13776640T>A | CA359209379 | DNAH5 | c.9172A>T (p.Lys3058Ter) c.9127A>T (p.Lys3043Ter) c.9280A>T (p.Lys3094Ter) c.8185A>T (p.Lys2729Ter) c.*59A>T (n.*59A>T) c.4369A>T (p.Lys1457Ter) c.3922A>T (p.Lys1308Ter) c.3259A>T (p.Lys1087Ter) c.7774A>T (p.Lys2592Ter) n.9166A>T n.9161A>T | |
| 5 | g.13776640T>C | CA359209384 | DNAH5 | c.9172A>G (p.Lys3058Glu) c.9127A>G (p.Lys3043Glu) c.9280A>G (p.Lys3094Glu) c.8185A>G (p.Lys2729Glu) c.*59A>G (n.*59A>G) c.4369A>G (p.Lys1457Glu) c.3922A>G (p.Lys1308Glu) c.3259A>G (p.Lys1087Glu) c.7774A>G (p.Lys2592Glu) n.9166A>G n.9161A>G | |
| 5 | g.13776640T>G | CA359209395 | DNAH5 | c.9172A>C (p.Lys3058Gln) c.9127A>C (p.Lys3043Gln) c.9280A>C (p.Lys3094Gln) c.8185A>C (p.Lys2729Gln) c.*59A>C (n.*59A>C) c.4369A>C (p.Lys1457Gln) c.3922A>C (p.Lys1308Gln) c.3259A>C (p.Lys1087Gln) c.7774A>C (p.Lys2592Gln) n.9166A>C n.9161A>C | |
| 5 | g.13776641T>A | CA359209402 | DNAH5 | c.9171A>T (p.Lys3057Asn) c.9126A>T (p.Lys3042Asn) c.9279A>T (p.Lys3093Asn) c.8184A>T (p.Lys2728Asn) c.*58A>T (n.*58A>T) c.4368A>T (p.Lys1456Asn) c.3921A>T (p.Lys1307Asn) c.3258A>T (p.Lys1086Asn) c.7773A>T (p.Lys2591Asn) n.9165A>T n.9160A>T | |
| 5 | g.13776641T>C | CA3202598 | DNAH5 | c.9171A>G (p.Lys3057=) c.9126A>G (p.Lys3042=) c.9279A>G (p.Lys3093=) c.8184A>G (p.Lys2728=) c.*58A>G (n.*58A>G) c.4368A>G (p.Lys1456=) c.3921A>G (p.Lys1307=) c.3258A>G (p.Lys1086=) c.7773A>G (p.Lys2591=) n.9165A>G n.9160A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776641T>G | CA359209408 | DNAH5 | c.9171A>C (p.Lys3057Asn) c.9126A>C (p.Lys3042Asn) c.9279A>C (p.Lys3093Asn) c.8184A>C (p.Lys2728Asn) c.*58A>C (n.*58A>C) c.4368A>C (p.Lys1456Asn) c.3921A>C (p.Lys1307Asn) c.3258A>C (p.Lys1086Asn) c.7773A>C (p.Lys2591Asn) n.9165A>C n.9160A>C | |
| 5 | g.13776641T= | CA1528435320 | DNAH5 | c.9171A= (p.Lys3057=) c.9126A= (p.Lys3042=) c.9279A= (p.Lys3093=) c.8184A= (p.Lys2728=) c.*58A= (n.*58A=) c.4368A= (p.Lys1456=) c.3921A= (p.Lys1307=) c.3258A= (p.Lys1086=) c.7773A= (p.Lys2591=) n.9165A= n.9160A= | |
| 5 | g.13776642T>A | CA359209414 | DNAH5 | c.9170A>T (p.Lys3057Ile) c.9125A>T (p.Lys3042Ile) c.9278A>T (p.Lys3093Ile) c.8183A>T (p.Lys2728Ile) c.*57A>T (n.*57A>T) c.4367A>T (p.Lys1456Ile) c.3920A>T (p.Lys1307Ile) c.3257A>T (p.Lys1086Ile) c.7772A>T (p.Lys2591Ile) n.9164A>T n.9159A>T | |
| 5 | g.13776642T>C | CA359209413 | DNAH5 | c.9170A>G (p.Lys3057Arg) c.9125A>G (p.Lys3042Arg) c.9278A>G (p.Lys3093Arg) c.8183A>G (p.Lys2728Arg) c.*57A>G (n.*57A>G) c.4367A>G (p.Lys1456Arg) c.3920A>G (p.Lys1307Arg) c.3257A>G (p.Lys1086Arg) c.7772A>G (p.Lys2591Arg) n.9164A>G n.9159A>G | gnomAD v4 COSMIC |
| 5 | g.13776642T>G | CA359209412 | DNAH5 | c.9170A>C (p.Lys3057Thr) c.9125A>C (p.Lys3042Thr) c.9278A>C (p.Lys3093Thr) c.8183A>C (p.Lys2728Thr) c.*57A>C (n.*57A>C) c.4367A>C (p.Lys1456Thr) c.3920A>C (p.Lys1307Thr) c.3257A>C (p.Lys1086Thr) c.7772A>C (p.Lys2591Thr) n.9164A>C n.9159A>C | |
| 5 | g.13776643T>A | CA359209415 | DNAH5 | c.9169A>T (p.Lys3057Ter) c.9124A>T (p.Lys3042Ter) c.9277A>T (p.Lys3093Ter) c.8182A>T (p.Lys2728Ter) c.*56A>T (n.*56A>T) c.4366A>T (p.Lys1456Ter) c.3919A>T (p.Lys1307Ter) c.3256A>T (p.Lys1086Ter) c.7771A>T (p.Lys2591Ter) n.9163A>T n.9158A>T | |
| 5 | g.13776643T>C | CA359209416 | DNAH5 | c.9169A>G (p.Lys3057Glu) c.9124A>G (p.Lys3042Glu) c.9277A>G (p.Lys3093Glu) c.8182A>G (p.Lys2728Glu) c.*56A>G (n.*56A>G) c.4366A>G (p.Lys1456Glu) c.3919A>G (p.Lys1307Glu) c.3256A>G (p.Lys1086Glu) c.7771A>G (p.Lys2591Glu) n.9163A>G n.9158A>G | |
| 5 | g.13776643T>G | CA359209419 | DNAH5 | c.9169A>C (p.Lys3057Gln) c.9124A>C (p.Lys3042Gln) c.9277A>C (p.Lys3093Gln) c.8182A>C (p.Lys2728Gln) c.*56A>C (n.*56A>C) c.4366A>C (p.Lys1456Gln) c.3919A>C (p.Lys1307Gln) c.3256A>C (p.Lys1086Gln) c.7771A>C (p.Lys2591Gln) n.9163A>C n.9158A>C | |
| 5 | g.13776644C>A | CA359209420 | DNAH5 | c.9168G>T (p.Met3056Ile) c.9123G>T (p.Met3041Ile) c.*55G>T (n.*55G>T) n.9239G>T c.9276G>T (p.Met3092Ile) c.8181G>T (p.Met2727Ile) c.4365G>T (p.Met1455Ile) c.3918G>T (p.Met1306Ile) c.3255G>T (p.Met1085Ile) c.7770G>T (p.Met2590Ile) n.9162G>T n.9157G>T | |
| 5 | g.13776644C>G | CA359209422 | DNAH5 | c.9168G>C (p.Met3056Ile) c.9123G>C (p.Met3041Ile) c.*55G>C (n.*55G>C) n.9239G>C c.9276G>C (p.Met3092Ile) c.8181G>C (p.Met2727Ile) c.4365G>C (p.Met1455Ile) c.3918G>C (p.Met1306Ile) c.3255G>C (p.Met1085Ile) c.7770G>C (p.Met2590Ile) n.9162G>C n.9157G>C | |
| 5 | g.13776644C>T | CA359209423 | DNAH5 | c.9168G>A (p.Met3056Ile) c.9123G>A (p.Met3041Ile) c.*55G>A (n.*55G>A) n.9239G>A c.9276G>A (p.Met3092Ile) c.8181G>A (p.Met2727Ile) c.4365G>A (p.Met1455Ile) c.3918G>A (p.Met1306Ile) c.3255G>A (p.Met1085Ile) c.7770G>A (p.Met2590Ile) n.9162G>A n.9157G>A | |
| 5 | g.13776645A>C | CA359209429 | DNAH5 | c.9167T>G (p.Met3056Arg) c.9122T>G (p.Met3041Arg) c.*54T>G (n.*54T>G) n.9238T>G c.9275T>G (p.Met3092Arg) c.8180T>G (p.Met2727Arg) c.4364T>G (p.Met1455Arg) c.3917T>G (p.Met1306Arg) c.3254T>G (p.Met1085Arg) c.7769T>G (p.Met2590Arg) n.9161T>G n.9156T>G | |
| 5 | g.13776645A>G | CA359209436 | DNAH5 | c.9167T>C (p.Met3056Thr) c.9122T>C (p.Met3041Thr) c.*54T>C (n.*54T>C) n.9238T>C c.9275T>C (p.Met3092Thr) c.8180T>C (p.Met2727Thr) c.4364T>C (p.Met1455Thr) c.3917T>C (p.Met1306Thr) c.3254T>C (p.Met1085Thr) c.7769T>C (p.Met2590Thr) n.9161T>C n.9156T>C | |
| 5 | g.13776645A>T | CA359209437 | DNAH5 | c.9167T>A (p.Met3056Lys) c.9122T>A (p.Met3041Lys) c.*54T>A (n.*54T>A) n.9238T>A c.9275T>A (p.Met3092Lys) c.8180T>A (p.Met2727Lys) c.4364T>A (p.Met1455Lys) c.3917T>A (p.Met1306Lys) c.3254T>A (p.Met1085Lys) c.7769T>A (p.Met2590Lys) n.9161T>A n.9156T>A | |
| 5 | g.13776646T>A | CA359209440 | DNAH5 | c.9166A>T (p.Met3056Leu) c.9121A>T (p.Met3041Leu) c.*53A>T (n.*53A>T) n.9237A>T c.9274A>T (p.Met3092Leu) c.8179A>T (p.Met2727Leu) c.4363A>T (p.Met1455Leu) c.3916A>T (p.Met1306Leu) c.3253A>T (p.Met1085Leu) c.7768A>T (p.Met2590Leu) n.9160A>T n.9155A>T | |
| 5 | g.13776646T>C | CA113937749 | DNAH5 | c.9166A>G (p.Met3056Val) c.9121A>G (p.Met3041Val) c.*53A>G (n.*53A>G) n.9237A>G c.9274A>G (p.Met3092Val) c.8179A>G (p.Met2727Val) c.4363A>G (p.Met1455Val) c.3916A>G (p.Met1306Val) c.3253A>G (p.Met1085Val) c.7768A>G (p.Met2590Val) n.9160A>G n.9155A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776646T>G | CA359209443 | DNAH5 | c.9166A>C (p.Met3056Leu) c.9121A>C (p.Met3041Leu) c.*53A>C (n.*53A>C) n.9237A>C c.9274A>C (p.Met3092Leu) c.8179A>C (p.Met2727Leu) c.4363A>C (p.Met1455Leu) c.3916A>C (p.Met1306Leu) c.3253A>C (p.Met1085Leu) c.7768A>C (p.Met2590Leu) n.9160A>C n.9155A>C | |
| 5 | g.13776646T= | CA1528435325 | DNAH5 | c.9166A= (p.Met3056=) c.9121A= (p.Met3041=) c.*53A= (n.*53A=) n.9237A= c.9274A= (p.Met3092=) c.8179A= (p.Met2727=) c.4363A= (p.Met1455=) c.3916A= (p.Met1306=) c.3253A= (p.Met1085=) c.7768A= (p.Met2590=) n.9160A= n.9155A= | |
| 5 | g.13776647G>A | CA443535713 | DNAH5 | c.9165C>T (p.Val3055=) c.9120C>T (p.Val3040=) c.*52C>T (n.*52C>T) n.9236C>T c.9273C>T (p.Val3091=) c.8178C>T (p.Val2726=) c.4362C>T (p.Val1454=) c.3915C>T (p.Val1305=) c.3252C>T (p.Val1084=) c.7767C>T (p.Val2589=) n.9159C>T n.9154C>T | ClinVar dbSNP |
| 5 | g.13776647G>C | CA443535716 | DNAH5 | c.9165C>G (p.Val3055=) c.9120C>G (p.Val3040=) c.*52C>G (n.*52C>G) n.9236C>G c.9273C>G (p.Val3091=) c.8178C>G (p.Val2726=) c.4362C>G (p.Val1454=) c.3915C>G (p.Val1305=) c.3252C>G (p.Val1084=) c.7767C>G (p.Val2589=) n.9159C>G n.9154C>G | |
| 5 | g.13776647G= | CA1528435330 | DNAH5 | c.9165C= (p.Val3055=) c.9120C= (p.Val3040=) c.*52C= (n.*52C=) n.9236C= c.9273C= (p.Val3091=) c.8178C= (p.Val2726=) c.4362C= (p.Val1454=) c.3915C= (p.Val1305=) c.3252C= (p.Val1084=) c.7767C= (p.Val2589=) n.9159C= n.9154C= | |
| 5 | g.13776647G>T | CA443535718 | DNAH5 | c.9165C>A (p.Val3055=) c.9120C>A (p.Val3040=) c.*52C>A (n.*52C>A) n.9236C>A c.9273C>A (p.Val3091=) c.8178C>A (p.Val2726=) c.4362C>A (p.Val1454=) c.3915C>A (p.Val1305=) c.3252C>A (p.Val1084=) c.7767C>A (p.Val2589=) n.9159C>A n.9154C>A | |
| 5 | g.13776648A>C | CA359209446 | DNAH5 | c.9164T>G (p.Val3055Gly) c.9119T>G (p.Val3040Gly) c.*51T>G (n.*51T>G) n.9235T>G c.9272T>G (p.Val3091Gly) c.8177T>G (p.Val2726Gly) c.4361T>G (p.Val1454Gly) c.3914T>G (p.Val1305Gly) c.3251T>G (p.Val1084Gly) c.7766T>G (p.Val2589Gly) n.9158T>G n.9153T>G | |
| 5 | g.13776648A>G | CA359209448 | DNAH5 | c.9164T>C (p.Val3055Ala) c.9119T>C (p.Val3040Ala) c.*51T>C (n.*51T>C) n.9235T>C c.9272T>C (p.Val3091Ala) c.8177T>C (p.Val2726Ala) c.4361T>C (p.Val1454Ala) c.3914T>C (p.Val1305Ala) c.3251T>C (p.Val1084Ala) c.7766T>C (p.Val2589Ala) n.9158T>C n.9153T>C | |
| 5 | g.13776648A>T | CA359209449 | DNAH5 | c.9164T>A (p.Val3055Asp) c.9119T>A (p.Val3040Asp) c.*51T>A (n.*51T>A) n.9235T>A c.9272T>A (p.Val3091Asp) c.8177T>A (p.Val2726Asp) c.4361T>A (p.Val1454Asp) c.3914T>A (p.Val1305Asp) c.3251T>A (p.Val1084Asp) c.7766T>A (p.Val2589Asp) n.9158T>A n.9153T>A | |
| 5 | g.13776649C>A | CA359209452 | DNAH5 | c.9163G>T (p.Val3055Phe) c.9118G>T (p.Val3040Phe) c.*50G>T (n.*50G>T) n.9234G>T c.9271G>T (p.Val3091Phe) c.8176G>T (p.Val2726Phe) c.4360G>T (p.Val1454Phe) c.3913G>T (p.Val1305Phe) c.3250G>T (p.Val1084Phe) c.7765G>T (p.Val2589Phe) n.9157G>T n.9152G>T | dbSNP |
| 5 | g.13776649C= | CA1528435332 | DNAH5 | c.9163G= (p.Val3055=) c.9118G= (p.Val3040=) c.*50G= (n.*50G=) n.9234G= c.9271G= (p.Val3091=) c.8176G= (p.Val2726=) c.4360G= (p.Val1454=) c.3913G= (p.Val1305=) c.3250G= (p.Val1084=) c.7765G= (p.Val2589=) n.9157G= n.9152G= | |
| 5 | g.13776649C>G | CA359209454 | DNAH5 | c.9163G>C (p.Val3055Leu) c.9118G>C (p.Val3040Leu) c.*50G>C (n.*50G>C) n.9234G>C c.9271G>C (p.Val3091Leu) c.8176G>C (p.Val2726Leu) c.4360G>C (p.Val1454Leu) c.3913G>C (p.Val1305Leu) c.3250G>C (p.Val1084Leu) c.7765G>C (p.Val2589Leu) n.9157G>C n.9152G>C | |
| 5 | g.13776649C>T | CA359209450 | DNAH5 | c.9163G>A (p.Val3055Ile) c.9118G>A (p.Val3040Ile) c.*50G>A (n.*50G>A) n.9234G>A c.9271G>A (p.Val3091Ile) c.8176G>A (p.Val2726Ile) c.4360G>A (p.Val1454Ile) c.3913G>A (p.Val1305Ile) c.3250G>A (p.Val1084Ile) c.7765G>A (p.Val2589Ile) n.9157G>A n.9152G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776650T>A | CA443535726 | DNAH5 | c.9162A>T (p.Ser3054=) c.9117A>T (p.Ser3039=) c.*49A>T (n.*49A>T) n.9233A>T c.9270A>T (p.Ser3090=) c.8175A>T (p.Ser2725=) c.4359A>T (p.Ser1453=) c.3912A>T (p.Ser1304=) c.3249A>T (p.Ser1083=) c.7764A>T (p.Ser2588=) n.9156A>T n.9151A>T | gnomAD v4 |
| 5 | g.13776650T>C | CA443535727 | DNAH5 | c.9162A>G (p.Ser3054=) c.9117A>G (p.Ser3039=) c.*49A>G (n.*49A>G) n.9233A>G c.9270A>G (p.Ser3090=) c.8175A>G (p.Ser2725=) c.4359A>G (p.Ser1453=) c.3912A>G (p.Ser1304=) c.3249A>G (p.Ser1083=) c.7764A>G (p.Ser2588=) n.9156A>G n.9151A>G | dbSNP |
| 5 | g.13776650T>G | CA443535728 | DNAH5 | c.9162A>C (p.Ser3054=) c.9117A>C (p.Ser3039=) c.*49A>C (n.*49A>C) n.9233A>C c.9270A>C (p.Ser3090=) c.8175A>C (p.Ser2725=) c.4359A>C (p.Ser1453=) c.3912A>C (p.Ser1304=) c.3249A>C (p.Ser1083=) c.7764A>C (p.Ser2588=) n.9156A>C n.9151A>C | |
| 5 | g.13776650T= | CA1528435334 | DNAH5 | c.9162A= (p.Ser3054=) c.9117A= (p.Ser3039=) c.*49A= (n.*49A=) n.9233A= c.9270A= (p.Ser3090=) c.8175A= (p.Ser2725=) c.4359A= (p.Ser1453=) c.3912A= (p.Ser1304=) c.3249A= (p.Ser1083=) c.7764A= (p.Ser2588=) n.9156A= n.9151A= | |
| 5 | g.13776651G>A | CA359209463 | DNAH5 | c.9161C>T (p.Ser3054Leu) c.9116C>T (p.Ser3039Leu) c.*48C>T (n.*48C>T) n.9232C>T c.9269C>T (p.Ser3090Leu) c.8174C>T (p.Ser2725Leu) c.4358C>T (p.Ser1453Leu) c.3911C>T (p.Ser1304Leu) c.3248C>T (p.Ser1083Leu) c.7763C>T (p.Ser2588Leu) n.9155C>T n.9150C>T | gnomAD v4 |
| 5 | g.13776651G>C | CA359209465 | DNAH5 | c.9161C>G (p.Ser3054Ter) c.9116C>G (p.Ser3039Ter) c.*48C>G (n.*48C>G) n.9232C>G c.9269C>G (p.Ser3090Ter) c.8174C>G (p.Ser2725Ter) c.4358C>G (p.Ser1453Ter) c.3911C>G (p.Ser1304Ter) c.3248C>G (p.Ser1083Ter) c.7763C>G (p.Ser2588Ter) n.9155C>G n.9150C>G | COSMIC |
| 5 | g.13776651G>T | CA359209467 | DNAH5 | c.9161C>A (p.Ser3054Ter) c.9116C>A (p.Ser3039Ter) c.*48C>A (n.*48C>A) n.9232C>A c.9269C>A (p.Ser3090Ter) c.8174C>A (p.Ser2725Ter) c.4358C>A (p.Ser1453Ter) c.3911C>A (p.Ser1304Ter) c.3248C>A (p.Ser1083Ter) c.7763C>A (p.Ser2588Ter) n.9155C>A n.9150C>A | |
| 5 | g.13776652A= | CA1528435338 | DNAH5 | c.9160T= (p.Ser3054=) c.9115T= (p.Ser3039=) c.*47T= (n.*47T=) n.9231T= c.9268T= (p.Ser3090=) c.8173T= (p.Ser2725=) c.4357T= (p.Ser1453=) c.3910T= (p.Ser1304=) c.3247T= (p.Ser1083=) c.7762T= (p.Ser2588=) n.9154T= n.9149T= | |
| 5 | g.13776652A>C | CA359209471 | DNAH5 | c.9160T>G (p.Ser3054Ala) c.9115T>G (p.Ser3039Ala) c.*47T>G (n.*47T>G) n.9231T>G c.9268T>G (p.Ser3090Ala) c.8173T>G (p.Ser2725Ala) c.4357T>G (p.Ser1453Ala) c.3910T>G (p.Ser1304Ala) c.3247T>G (p.Ser1083Ala) c.7762T>G (p.Ser2588Ala) n.9154T>G n.9149T>G | |
| 5 | g.13776652A>G | CA359209479 | DNAH5 | c.9160T>C (p.Ser3054Pro) c.9115T>C (p.Ser3039Pro) c.*47T>C (n.*47T>C) n.9231T>C c.9268T>C (p.Ser3090Pro) c.8173T>C (p.Ser2725Pro) c.4357T>C (p.Ser1453Pro) c.3910T>C (p.Ser1304Pro) c.3247T>C (p.Ser1083Pro) c.7762T>C (p.Ser2588Pro) n.9154T>C n.9149T>C | |
| 5 | g.13776652A>T | CA359209481 | DNAH5 | c.9160T>A (p.Ser3054Thr) c.9115T>A (p.Ser3039Thr) c.*47T>A (n.*47T>A) n.9231T>A c.9268T>A (p.Ser3090Thr) c.8173T>A (p.Ser2725Thr) c.4357T>A (p.Ser1453Thr) c.3910T>A (p.Ser1304Thr) c.3247T>A (p.Ser1083Thr) c.7762T>A (p.Ser2588Thr) n.9154T>A n.9149T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776653T>A | CA443535730 | DNAH5 | c.9159A>T (p.Ala3053=) c.9114A>T (p.Ala3038=) c.*46A>T (n.*46A>T) n.9230A>T c.9267A>T (p.Ala3089=) c.8172A>T (p.Ala2724=) c.4356A>T (p.Ala1452=) c.3909A>T (p.Ala1303=) c.3246A>T (p.Ala1082=) c.7761A>T (p.Ala2587=) n.9153A>T n.9148A>T | |
| 5 | g.13776653T>C | CA443535732 | DNAH5 | c.9159A>G (p.Ala3053=) c.9114A>G (p.Ala3038=) c.*46A>G (n.*46A>G) n.9230A>G c.9267A>G (p.Ala3089=) c.8172A>G (p.Ala2724=) c.4356A>G (p.Ala1452=) c.3909A>G (p.Ala1303=) c.3246A>G (p.Ala1082=) c.7761A>G (p.Ala2587=) n.9153A>G n.9148A>G | ClinVar gnomAD v4 COSMIC |
| 5 | g.13776653T>G | CA443535735 | DNAH5 | c.9159A>C (p.Ala3053=) c.9114A>C (p.Ala3038=) c.*46A>C (n.*46A>C) n.9230A>C c.9267A>C (p.Ala3089=) c.8172A>C (p.Ala2724=) c.4356A>C (p.Ala1452=) c.3909A>C (p.Ala1303=) c.3246A>C (p.Ala1082=) c.7761A>C (p.Ala2587=) n.9153A>C n.9148A>C | ClinVar |
| 5 | g.13776654G>A | CA359209482 | DNAH5 | c.9158C>T (p.Ala3053Val) c.9113C>T (p.Ala3038Val) c.*45C>T (n.*45C>T) n.9229C>T c.9266C>T (p.Ala3089Val) c.8171C>T (p.Ala2724Val) c.4355C>T (p.Ala1452Val) c.3908C>T (p.Ala1303Val) c.3245C>T (p.Ala1082Val) c.7760C>T (p.Ala2587Val) n.9152C>T n.9147C>T | |
| 5 | g.13776654G>C | CA359209484 | DNAH5 | c.9158C>G (p.Ala3053Gly) c.9113C>G (p.Ala3038Gly) c.*45C>G (n.*45C>G) n.9229C>G c.9266C>G (p.Ala3089Gly) c.8171C>G (p.Ala2724Gly) c.4355C>G (p.Ala1452Gly) c.3908C>G (p.Ala1303Gly) c.3245C>G (p.Ala1082Gly) c.7760C>G (p.Ala2587Gly) n.9152C>G n.9147C>G | |
| 5 | g.13776654G>T | CA359209490 | DNAH5 | c.9158C>A (p.Ala3053Glu) c.9113C>A (p.Ala3038Glu) c.*45C>A (n.*45C>A) n.9229C>A c.9266C>A (p.Ala3089Glu) c.8171C>A (p.Ala2724Glu) c.4355C>A (p.Ala1452Glu) c.3908C>A (p.Ala1303Glu) c.3245C>A (p.Ala1082Glu) c.7760C>A (p.Ala2587Glu) n.9152C>A n.9147C>A | |
| 5 | g.13776655C>A | CA359209492 | DNAH5 | c.9157G>T (p.Ala3053Ser) c.9112G>T (p.Ala3038Ser) c.*44G>T (n.*44G>T) n.9228G>T c.9265G>T (p.Ala3089Ser) c.8170G>T (p.Ala2724Ser) c.4354G>T (p.Ala1452Ser) c.3907G>T (p.Ala1303Ser) c.3244G>T (p.Ala1082Ser) c.7759G>T (p.Ala2587Ser) n.9151G>T n.9146G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776655C= | CA1528435342 | DNAH5 | c.9157G= (p.Ala3053=) c.9112G= (p.Ala3038=) c.*44G= (n.*44G=) n.9228G= c.9265G= (p.Ala3089=) c.8170G= (p.Ala2724=) c.4354G= (p.Ala1452=) c.3907G= (p.Ala1303=) c.3244G= (p.Ala1082=) c.7759G= (p.Ala2587=) n.9151G= n.9146G= | |
| 5 | g.13776655C>G | CA359209493 | DNAH5 | c.9157G>C (p.Ala3053Pro) c.9112G>C (p.Ala3038Pro) c.*44G>C (n.*44G>C) n.9228G>C c.9265G>C (p.Ala3089Pro) c.8170G>C (p.Ala2724Pro) c.4354G>C (p.Ala1452Pro) c.3907G>C (p.Ala1303Pro) c.3244G>C (p.Ala1082Pro) c.7759G>C (p.Ala2587Pro) n.9151G>C n.9146G>C | |
| 5 | g.13776655C>T | CA359209495 | DNAH5 | c.9157G>A (p.Ala3053Thr) c.9112G>A (p.Ala3038Thr) c.*44G>A (n.*44G>A) n.9228G>A c.9265G>A (p.Ala3089Thr) c.8170G>A (p.Ala2724Thr) c.4354G>A (p.Ala1452Thr) c.3907G>A (p.Ala1303Thr) c.3244G>A (p.Ala1082Thr) c.7759G>A (p.Ala2587Thr) n.9151G>A n.9146G>A | ClinVar |
| 5 | g.13776656C>A | CA443535744 | DNAH5 | c.9156G>T (p.Leu3052=) c.9111G>T (p.Leu3037=) c.*43G>T (n.*43G>T) n.9227G>T c.9264G>T (p.Leu3088=) c.8169G>T (p.Leu2723=) c.4353G>T (p.Leu1451=) c.3906G>T (p.Leu1302=) c.3243G>T (p.Leu1081=) c.7758G>T (p.Leu2586=) n.9150G>T n.9145G>T | |
| 5 | g.13776656C= | CA1528435344 | DNAH5 | c.9156G= (p.Leu3052=) c.9111G= (p.Leu3037=) c.*43G= (n.*43G=) n.9227G= c.9264G= (p.Leu3088=) c.8169G= (p.Leu2723=) c.4353G= (p.Leu1451=) c.3906G= (p.Leu1302=) c.3243G= (p.Leu1081=) c.7758G= (p.Leu2586=) n.9150G= n.9145G= | |
| 5 | g.13776656C>G | CA443535745 | DNAH5 | c.9156G>C (p.Leu3052=) c.9111G>C (p.Leu3037=) c.*43G>C (n.*43G>C) n.9227G>C c.9264G>C (p.Leu3088=) c.8169G>C (p.Leu2723=) c.4353G>C (p.Leu1451=) c.3906G>C (p.Leu1302=) c.3243G>C (p.Leu1081=) c.7758G>C (p.Leu2586=) n.9150G>C n.9145G>C | |
| 5 | g.13776656C>T | CA443535746 | DNAH5 | c.9156G>A (p.Leu3052=) c.9111G>A (p.Leu3037=) c.*43G>A (n.*43G>A) n.9227G>A c.9264G>A (p.Leu3088=) c.8169G>A (p.Leu2723=) c.4353G>A (p.Leu1451=) c.3906G>A (p.Leu1302=) c.3243G>A (p.Leu1081=) c.7758G>A (p.Leu2586=) n.9150G>A n.9145G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776657A>C | CA359209503 | DNAH5 | c.9155T>G (p.Leu3052Arg) c.9110T>G (p.Leu3037Arg) c.*42T>G (n.*42T>G) n.9226T>G c.9263T>G (p.Leu3088Arg) c.8168T>G (p.Leu2723Arg) c.4352T>G (p.Leu1451Arg) c.3905T>G (p.Leu1302Arg) c.3242T>G (p.Leu1081Arg) c.7757T>G (p.Leu2586Arg) n.9149T>G n.9144T>G | |
| 5 | g.13776657A>G | CA359209505 | DNAH5 | c.9155T>C (p.Leu3052Pro) c.9110T>C (p.Leu3037Pro) c.*42T>C (n.*42T>C) n.9226T>C c.9263T>C (p.Leu3088Pro) c.8168T>C (p.Leu2723Pro) c.4352T>C (p.Leu1451Pro) c.3905T>C (p.Leu1302Pro) c.3242T>C (p.Leu1081Pro) c.7757T>C (p.Leu2586Pro) n.9149T>C n.9144T>C | |
| 5 | g.13776657A>T | CA359209501 | DNAH5 | c.9155T>A (p.Leu3052Gln) c.9110T>A (p.Leu3037Gln) c.*42T>A (n.*42T>A) n.9226T>A c.9263T>A (p.Leu3088Gln) c.8168T>A (p.Leu2723Gln) c.4352T>A (p.Leu1451Gln) c.3905T>A (p.Leu1302Gln) c.3242T>A (p.Leu1081Gln) c.7757T>A (p.Leu2586Gln) n.9149T>A n.9144T>A | |
| 5 | g.13776658G>A | CA443535750 | DNAH5 | c.9154C>T (p.Leu3052=) c.9109C>T (p.Leu3037=) c.*41C>T (n.*41C>T) n.9225C>T c.9262C>T (p.Leu3088=) c.8167C>T (p.Leu2723=) c.4351C>T (p.Leu1451=) c.3904C>T (p.Leu1302=) c.3241C>T (p.Leu1081=) c.7756C>T (p.Leu2586=) n.9148C>T n.9143C>T | dbSNP COSMIC |
| 5 | g.13776658G>C | CA359209510 | DNAH5 | c.9154C>G (p.Leu3052Val) c.9109C>G (p.Leu3037Val) c.*41C>G (n.*41C>G) n.9225C>G c.9262C>G (p.Leu3088Val) c.8167C>G (p.Leu2723Val) c.4351C>G (p.Leu1451Val) c.3904C>G (p.Leu1302Val) c.3241C>G (p.Leu1081Val) c.7756C>G (p.Leu2586Val) n.9148C>G n.9143C>G | |
| 5 | g.13776658G= | CA1528435347 | DNAH5 | c.9154C= (p.Leu3052=) c.9109C= (p.Leu3037=) c.*41C= (n.*41C=) n.9225C= c.9262C= (p.Leu3088=) c.8167C= (p.Leu2723=) c.4351C= (p.Leu1451=) c.3904C= (p.Leu1302=) c.3241C= (p.Leu1081=) c.7756C= (p.Leu2586=) n.9148C= n.9143C= | |
| 5 | g.13776658G>T | CA359209511 | DNAH5 | c.9154C>A (p.Leu3052Met) c.9109C>A (p.Leu3037Met) c.*41C>A (n.*41C>A) n.9225C>A c.9262C>A (p.Leu3088Met) c.8167C>A (p.Leu2723Met) c.4351C>A (p.Leu1451Met) c.3904C>A (p.Leu1302Met) c.3241C>A (p.Leu1081Met) c.7756C>A (p.Leu2586Met) n.9148C>A n.9143C>A | |
| 5 | g.13776659G>A | CA443535751 | DNAH5 | c.9153C>T (p.Asp3051=) c.9108C>T (p.Asp3036=) c.*40C>T (n.*40C>T) n.9224C>T c.9261C>T (p.Asp3087=) c.8166C>T (p.Asp2722=) c.4350C>T (p.Asp1450=) c.3903C>T (p.Asp1301=) c.3240C>T (p.Asp1080=) c.7755C>T (p.Asp2585=) n.9147C>T n.9142C>T | |
| 5 | g.13776659G>C | CA3202600 | DNAH5 | c.9153C>G (p.Asp3051Glu) c.9108C>G (p.Asp3036Glu) c.*40C>G (n.*40C>G) n.9224C>G c.9261C>G (p.Asp3087Glu) c.8166C>G (p.Asp2722Glu) c.4350C>G (p.Asp1450Glu) c.3903C>G (p.Asp1301Glu) c.3240C>G (p.Asp1080Glu) c.7755C>G (p.Asp2585Glu) n.9147C>G n.9142C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776659G= | CA1528435349 | DNAH5 | c.9153C= (p.Asp3051=) c.9108C= (p.Asp3036=) c.*40C= (n.*40C=) n.9224C= c.9261C= (p.Asp3087=) c.8166C= (p.Asp2722=) c.4350C= (p.Asp1450=) c.3903C= (p.Asp1301=) c.3240C= (p.Asp1080=) c.7755C= (p.Asp2585=) n.9147C= n.9142C= | |
| 5 | g.13776659G>T | CA3202599 | DNAH5 | c.9153C>A (p.Asp3051Glu) c.9108C>A (p.Asp3036Glu) c.*40C>A (n.*40C>A) n.9224C>A c.9261C>A (p.Asp3087Glu) c.8166C>A (p.Asp2722Glu) c.4350C>A (p.Asp1450Glu) c.3903C>A (p.Asp1301Glu) c.3240C>A (p.Asp1080Glu) c.7755C>A (p.Asp2585Glu) n.9147C>A n.9142C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776660T>A | CA359209517 | DNAH5 | c.9152A>T (p.Asp3051Val) c.9107A>T (p.Asp3036Val) c.*39A>T (n.*39A>T) n.9223A>T c.9260A>T (p.Asp3087Val) c.8165A>T (p.Asp2722Val) c.4349A>T (p.Asp1450Val) c.3902A>T (p.Asp1301Val) c.3239A>T (p.Asp1080Val) c.7754A>T (p.Asp2585Val) n.9146A>T n.9141A>T | gnomAD v4 |
| 5 | g.13776660T>C | CA359209516 | DNAH5 | c.9152A>G (p.Asp3051Gly) c.9107A>G (p.Asp3036Gly) c.*39A>G (n.*39A>G) n.9223A>G c.9260A>G (p.Asp3087Gly) c.8165A>G (p.Asp2722Gly) c.4349A>G (p.Asp1450Gly) c.3902A>G (p.Asp1301Gly) c.3239A>G (p.Asp1080Gly) c.7754A>G (p.Asp2585Gly) n.9146A>G n.9141A>G | |
| 5 | g.13776660T>G | CA359209514 | DNAH5 | c.9152A>C (p.Asp3051Ala) c.9107A>C (p.Asp3036Ala) c.*39A>C (n.*39A>C) n.9223A>C c.9260A>C (p.Asp3087Ala) c.8165A>C (p.Asp2722Ala) c.4349A>C (p.Asp1450Ala) c.3902A>C (p.Asp1301Ala) c.3239A>C (p.Asp1080Ala) c.7754A>C (p.Asp2585Ala) n.9146A>C n.9141A>C | |
| 5 | g.13776661C>A | CA359209522 | DNAH5 | c.9151G>T (p.Asp3051Tyr) c.9106G>T (p.Asp3036Tyr) c.*38G>T (n.*38G>T) n.9222G>T c.9259G>T (p.Asp3087Tyr) c.8164G>T (p.Asp2722Tyr) c.4348G>T (p.Asp1450Tyr) c.3901G>T (p.Asp1301Tyr) c.3238G>T (p.Asp1080Tyr) c.7753G>T (p.Asp2585Tyr) n.9145G>T n.9140G>T | gnomAD v4 |
| 5 | g.13776661C= | CA1528435353 | DNAH5 | c.9151G= (p.Asp3051=) c.9106G= (p.Asp3036=) c.*38G= (n.*38G=) n.9222G= c.9259G= (p.Asp3087=) c.8164G= (p.Asp2722=) c.4348G= (p.Asp1450=) c.3901G= (p.Asp1301=) c.3238G= (p.Asp1080=) c.7753G= (p.Asp2585=) n.9145G= n.9140G= | |
| 5 | g.13776661C>G | CA359209525 | DNAH5 | c.9151G>C (p.Asp3051His) c.9106G>C (p.Asp3036His) c.*38G>C (n.*38G>C) n.9222G>C c.9259G>C (p.Asp3087His) c.8164G>C (p.Asp2722His) c.4348G>C (p.Asp1450His) c.3901G>C (p.Asp1301His) c.3238G>C (p.Asp1080His) c.7753G>C (p.Asp2585His) n.9145G>C n.9140G>C | |
| 5 | g.13776661C>T | CA359209528 | DNAH5 | c.9151G>A (p.Asp3051Asn) c.9106G>A (p.Asp3036Asn) c.*38G>A (n.*38G>A) n.9222G>A c.9259G>A (p.Asp3087Asn) c.8164G>A (p.Asp2722Asn) c.4348G>A (p.Asp1450Asn) c.3901G>A (p.Asp1301Asn) c.3238G>A (p.Asp1080Asn) c.7753G>A (p.Asp2585Asn) n.9145G>A n.9140G>A | ClinVar dbSNP gnomAD v4 |