| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13793931_13793933del | CA2697547090 | DNAH5 | c.8010+8_8010+10del (n.8010+8_8010+10del) c.7965+8_7965+10del (n.7965+8_7965+10del) n.8217+8_8217+10del c.8118+8_8118+10del (n.8118+8_8118+10del) c.7023+8_7023+10del (n.7023+8_7023+10del) c.3207+8_3207+10del (n.3207+8_3207+10del) c.2760+8_2760+10del (n.2760+8_2760+10del) c.2097+8_2097+10del (n.2097+8_2097+10del) c.6612+8_6612+10del (n.6612+8_6612+10del) n.8135+8_8135+10del | ClinVar |
| 5 | g.13793933T>C | CA3202936 | DNAH5 | c.8010+3A>G (n.8010+3A>G) c.7965+3A>G (n.7965+3A>G) n.8217+3A>G c.8118+3A>G (n.8118+3A>G) c.7023+3A>G (n.7023+3A>G) c.3207+3A>G (n.3207+3A>G) c.2760+3A>G (n.2760+3A>G) c.2097+3A>G (n.2097+3A>G) c.6612+3A>G (n.6612+3A>G) n.8135+3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793933T= | CA1528441825 | DNAH5 | c.8010+3A= (n.8010+3A=) c.7965+3A= (n.7965+3A=) n.8217+3A= c.8118+3A= (n.8118+3A=) c.7023+3A= (n.7023+3A=) c.3207+3A= (n.3207+3A=) c.2760+3A= (n.2760+3A=) c.2097+3A= (n.2097+3A=) c.6612+3A= (n.6612+3A=) n.8135+3A= | |
| 5 | g.13793934A>C | CA359221737 | DNAH5 | c.8010+2T>G (n.8010+2T>G) c.7965+2T>G (n.7965+2T>G) n.8217+2T>G c.8118+2T>G (n.8118+2T>G) c.7023+2T>G (n.7023+2T>G) c.3207+2T>G (n.3207+2T>G) c.2760+2T>G (n.2760+2T>G) c.2097+2T>G (n.2097+2T>G) c.6612+2T>G (n.6612+2T>G) n.8135+2T>G | |
| 5 | g.13793934A>G | CA359221739 | DNAH5 | c.8010+2T>C (n.8010+2T>C) c.7965+2T>C (n.7965+2T>C) n.8217+2T>C c.8118+2T>C (n.8118+2T>C) c.7023+2T>C (n.7023+2T>C) c.3207+2T>C (n.3207+2T>C) c.2760+2T>C (n.2760+2T>C) c.2097+2T>C (n.2097+2T>C) c.6612+2T>C (n.6612+2T>C) n.8135+2T>C | ClinVar |
| 5 | g.13793934A>T | CA359221740 | DNAH5 | c.8010+2T>A (n.8010+2T>A) c.7965+2T>A (n.7965+2T>A) n.8217+2T>A c.8118+2T>A (n.8118+2T>A) c.7023+2T>A (n.7023+2T>A) c.3207+2T>A (n.3207+2T>A) c.2760+2T>A (n.2760+2T>A) c.2097+2T>A (n.2097+2T>A) c.6612+2T>A (n.6612+2T>A) n.8135+2T>A | |
| 5 | g.13793935C>A | CA359221742 | DNAH5 | c.8010+1G>T (n.8010+1G>T) c.7965+1G>T (n.7965+1G>T) n.8217+1G>T c.8118+1G>T (n.8118+1G>T) c.7023+1G>T (n.7023+1G>T) c.3207+1G>T (n.3207+1G>T) c.2760+1G>T (n.2760+1G>T) c.2097+1G>T (n.2097+1G>T) c.6612+1G>T (n.6612+1G>T) n.8135+1G>T | |
| 5 | g.13793935C>G | CA359221744 | DNAH5 | c.8010+1G>C (n.8010+1G>C) c.7965+1G>C (n.7965+1G>C) n.8217+1G>C c.8118+1G>C (n.8118+1G>C) c.7023+1G>C (n.7023+1G>C) c.3207+1G>C (n.3207+1G>C) c.2760+1G>C (n.2760+1G>C) c.2097+1G>C (n.2097+1G>C) c.6612+1G>C (n.6612+1G>C) n.8135+1G>C | gnomAD v4 |
| 5 | g.13793935C>T | CA359221746 | DNAH5 | c.8010+1G>A (n.8010+1G>A) c.7965+1G>A (n.7965+1G>A) n.8217+1G>A c.8118+1G>A (n.8118+1G>A) c.7023+1G>A (n.7023+1G>A) c.3207+1G>A (n.3207+1G>A) c.2760+1G>A (n.2760+1G>A) c.2097+1G>A (n.2097+1G>A) c.6612+1G>A (n.6612+1G>A) n.8135+1G>A | ClinVar |
| 5 | g.13793936C>A | CA359221748 | DNAH5 | c.8010G>T (p.Gln2670His) c.7965G>T (p.Gln2655His) n.8217G>T c.8118G>T (p.Gln2706His) c.7023G>T (p.Gln2341His) c.3207G>T (p.Gln1069His) c.2760G>T (p.Gln920His) c.2097G>T (p.Gln699His) c.6612G>T (p.Gln2204His) n.8135G>T | |
| 5 | g.13793936C>G | CA359221750 | DNAH5 | c.8010G>C (p.Gln2670His) c.7965G>C (p.Gln2655His) n.8217G>C c.8118G>C (p.Gln2706His) c.7023G>C (p.Gln2341His) c.3207G>C (p.Gln1069His) c.2760G>C (p.Gln920His) c.2097G>C (p.Gln699His) c.6612G>C (p.Gln2204His) n.8135G>C | |
| 5 | g.13793936C>T | CA443267318 | DNAH5 | c.8010G>A (p.Gln2670=) c.7965G>A (p.Gln2655=) n.8217G>A c.8118G>A (p.Gln2706=) c.7023G>A (p.Gln2341=) c.3207G>A (p.Gln1069=) c.2760G>A (p.Gln920=) c.2097G>A (p.Gln699=) c.6612G>A (p.Gln2204=) n.8135G>A | |
| 5 | g.13793937T>A | CA359221752 | DNAH5 | c.8009A>T (p.Gln2670Leu) c.7964A>T (p.Gln2655Leu) n.8216A>T c.8117A>T (p.Gln2706Leu) c.7022A>T (p.Gln2341Leu) c.3206A>T (p.Gln1069Leu) c.2759A>T (p.Gln920Leu) c.2096A>T (p.Gln699Leu) c.6611A>T (p.Gln2204Leu) n.8134A>T | |
| 5 | g.13793937T>C | CA359221753 | DNAH5 | c.8009A>G (p.Gln2670Arg) c.7964A>G (p.Gln2655Arg) n.8216A>G c.8117A>G (p.Gln2706Arg) c.7022A>G (p.Gln2341Arg) c.3206A>G (p.Gln1069Arg) c.2759A>G (p.Gln920Arg) c.2096A>G (p.Gln699Arg) c.6611A>G (p.Gln2204Arg) n.8134A>G | |
| 5 | g.13793937T>G | CA359221755 | DNAH5 | c.8009A>C (p.Gln2670Pro) c.7964A>C (p.Gln2655Pro) n.8216A>C c.8117A>C (p.Gln2706Pro) c.7022A>C (p.Gln2341Pro) c.3206A>C (p.Gln1069Pro) c.2759A>C (p.Gln920Pro) c.2096A>C (p.Gln699Pro) c.6611A>C (p.Gln2204Pro) n.8134A>C | |
| 5 | g.13793938G>A | CA359221758 | DNAH5 | c.8008C>T (p.Gln2670Ter) c.7963C>T (p.Gln2655Ter) n.8215C>T c.8116C>T (p.Gln2706Ter) c.7021C>T (p.Gln2341Ter) c.3205C>T (p.Gln1069Ter) c.2758C>T (p.Gln920Ter) c.2095C>T (p.Gln699Ter) c.6610C>T (p.Gln2204Ter) n.8133C>T | gnomAD v4 |
| 5 | g.13793938G>C | CA359221759 | DNAH5 | c.8008C>G (p.Gln2670Glu) c.7963C>G (p.Gln2655Glu) n.8215C>G c.8116C>G (p.Gln2706Glu) c.7021C>G (p.Gln2341Glu) c.3205C>G (p.Gln1069Glu) c.2758C>G (p.Gln920Glu) c.2095C>G (p.Gln699Glu) c.6610C>G (p.Gln2204Glu) n.8133C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793938G= | CA1528441826 | DNAH5 | c.8008C= (p.Gln2670=) c.7963C= (p.Gln2655=) n.8215C= c.8116C= (p.Gln2706=) c.7021C= (p.Gln2341=) c.3205C= (p.Gln1069=) c.2758C= (p.Gln920=) c.2095C= (p.Gln699=) c.6610C= (p.Gln2204=) n.8133C= | |
| 5 | g.13793938G>T | CA359221756 | DNAH5 | c.8008C>A (p.Gln2670Lys) c.7963C>A (p.Gln2655Lys) n.8215C>A c.8116C>A (p.Gln2706Lys) c.7021C>A (p.Gln2341Lys) c.3205C>A (p.Gln1069Lys) c.2758C>A (p.Gln920Lys) c.2095C>A (p.Gln699Lys) c.6610C>A (p.Gln2204Lys) n.8133C>A | |
| 5 | g.13793939del | CA2673271340 | DNAH5 | c.8007del (p.Gln2670ArgfsTer6) c.7962del (p.Gln2655ArgfsTer6) n.8214del c.8115del (p.Gln2706ArgfsTer6) c.7020del (p.Gln2341ArgfsTer6) c.3204del (p.Gln1069ArgfsTer6) c.2757del (p.Gln920ArgfsTer6) c.2094del (p.Gln699ArgfsTer6) c.6609del (p.Gln2204ArgfsTer6) n.8132del | gnomAD v4 |
| 5 | g.13793939A>C | CA359221761 | DNAH5 | c.8007T>G (p.Asp2669Glu) c.7962T>G (p.Asp2654Glu) n.8214T>G c.8115T>G (p.Asp2705Glu) c.7020T>G (p.Asp2340Glu) c.3204T>G (p.Asp1068Glu) c.2757T>G (p.Asp919Glu) c.2094T>G (p.Asp698Glu) c.6609T>G (p.Asp2203Glu) n.8132T>G | |
| 5 | g.13793939A>G | CA443267322 | DNAH5 | c.8007T>C (p.Asp2669=) c.7962T>C (p.Asp2654=) n.8214T>C c.8115T>C (p.Asp2705=) c.7020T>C (p.Asp2340=) c.3204T>C (p.Asp1068=) c.2757T>C (p.Asp919=) c.2094T>C (p.Asp698=) c.6609T>C (p.Asp2203=) n.8132T>C | |
| 5 | g.13793939A>T | CA359221763 | DNAH5 | c.8007T>A (p.Asp2669Glu) c.7962T>A (p.Asp2654Glu) n.8214T>A c.8115T>A (p.Asp2705Glu) c.7020T>A (p.Asp2340Glu) c.3204T>A (p.Asp1068Glu) c.2757T>A (p.Asp919Glu) c.2094T>A (p.Asp698Glu) c.6609T>A (p.Asp2203Glu) n.8132T>A | |
| 5 | g.13793940T>A | CA3202937 | DNAH5 | c.8006A>T (p.Asp2669Val) c.7961A>T (p.Asp2654Val) n.8213A>T c.8114A>T (p.Asp2705Val) c.7019A>T (p.Asp2340Val) c.3203A>T (p.Asp1068Val) c.2756A>T (p.Asp919Val) c.2093A>T (p.Asp698Val) c.6608A>T (p.Asp2203Val) n.8131A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793940T>C | CA359221766 | DNAH5 | c.8006A>G (p.Asp2669Gly) c.7961A>G (p.Asp2654Gly) n.8213A>G c.8114A>G (p.Asp2705Gly) c.7019A>G (p.Asp2340Gly) c.3203A>G (p.Asp1068Gly) c.2756A>G (p.Asp919Gly) c.2093A>G (p.Asp698Gly) c.6608A>G (p.Asp2203Gly) n.8131A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13793940T>G | CA359221768 | DNAH5 | c.8006A>C (p.Asp2669Ala) c.7961A>C (p.Asp2654Ala) n.8213A>C c.8114A>C (p.Asp2705Ala) c.7019A>C (p.Asp2340Ala) c.3203A>C (p.Asp1068Ala) c.2756A>C (p.Asp919Ala) c.2093A>C (p.Asp698Ala) c.6608A>C (p.Asp2203Ala) n.8131A>C | |
| 5 | g.13793940T= | CA1528441827 | DNAH5 | c.8006A= (p.Asp2669=) c.7961A= (p.Asp2654=) n.8213A= c.8114A= (p.Asp2705=) c.7019A= (p.Asp2340=) c.3203A= (p.Asp1068=) c.2756A= (p.Asp919=) c.2093A= (p.Asp698=) c.6608A= (p.Asp2203=) n.8131A= | |
| 5 | g.13793941C>A | CA3202938 | DNAH5 | c.8005G>T (p.Asp2669Tyr) c.7960G>T (p.Asp2654Tyr) n.8212G>T c.8113G>T (p.Asp2705Tyr) c.7018G>T (p.Asp2340Tyr) c.3202G>T (p.Asp1068Tyr) c.2755G>T (p.Asp919Tyr) c.2092G>T (p.Asp698Tyr) c.6607G>T (p.Asp2203Tyr) n.8130G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793941C= | CA1528441828 | DNAH5 | c.8005G= (p.Asp2669=) c.7960G= (p.Asp2654=) n.8212G= c.8113G= (p.Asp2705=) c.7018G= (p.Asp2340=) c.3202G= (p.Asp1068=) c.2755G= (p.Asp919=) c.2092G= (p.Asp698=) c.6607G= (p.Asp2203=) n.8130G= | |
| 5 | g.13793941C>G | CA359221773 | DNAH5 | c.8005G>C (p.Asp2669His) c.7960G>C (p.Asp2654His) n.8212G>C c.8113G>C (p.Asp2705His) c.7018G>C (p.Asp2340His) c.3202G>C (p.Asp1068His) c.2755G>C (p.Asp919His) c.2092G>C (p.Asp698His) c.6607G>C (p.Asp2203His) n.8130G>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13793941C>T | CA359221771 | DNAH5 | c.8005G>A (p.Asp2669Asn) c.7960G>A (p.Asp2654Asn) n.8212G>A c.8113G>A (p.Asp2705Asn) c.7018G>A (p.Asp2340Asn) c.3202G>A (p.Asp1068Asn) c.2755G>A (p.Asp919Asn) c.2092G>A (p.Asp698Asn) c.6607G>A (p.Asp2203Asn) n.8130G>A | |
| 5 | g.13793942T>A | CA443267323 | DNAH5 | c.8004A>T (p.Gly2668=) c.7959A>T (p.Gly2653=) n.8211A>T c.8112A>T (p.Gly2704=) c.7017A>T (p.Gly2339=) c.3201A>T (p.Gly1067=) c.2754A>T (p.Gly918=) c.2091A>T (p.Gly697=) c.6606A>T (p.Gly2202=) n.8129A>T | dbSNP |
| 5 | g.13793942T>C | CA443267324 | DNAH5 | c.8004A>G (p.Gly2668=) c.7959A>G (p.Gly2653=) n.8211A>G c.8112A>G (p.Gly2704=) c.7017A>G (p.Gly2339=) c.3201A>G (p.Gly1067=) c.2754A>G (p.Gly918=) c.2091A>G (p.Gly697=) c.6606A>G (p.Gly2202=) n.8129A>G | |
| 5 | g.13793942T>G | CA443267325 | DNAH5 | c.8004A>C (p.Gly2668=) c.7959A>C (p.Gly2653=) n.8211A>C c.8112A>C (p.Gly2704=) c.7017A>C (p.Gly2339=) c.3201A>C (p.Gly1067=) c.2754A>C (p.Gly918=) c.2091A>C (p.Gly697=) c.6606A>C (p.Gly2202=) n.8129A>C | |
| 5 | g.13793942T= | CA1528441829 | DNAH5 | c.8004A= (p.Gly2668=) c.7959A= (p.Gly2653=) n.8211A= c.8112A= (p.Gly2704=) c.7017A= (p.Gly2339=) c.3201A= (p.Gly1067=) c.2754A= (p.Gly918=) c.2091A= (p.Gly697=) c.6606A= (p.Gly2202=) n.8129A= | |
| 5 | g.13793943C>A | CA359221776 | DNAH5 | c.8003G>T (p.Gly2668Val) c.7958G>T (p.Gly2653Val) n.8210G>T c.8111G>T (p.Gly2704Val) c.7016G>T (p.Gly2339Val) c.3200G>T (p.Gly1067Val) c.2753G>T (p.Gly918Val) c.2090G>T (p.Gly697Val) c.6605G>T (p.Gly2202Val) n.8128G>T | |
| 5 | g.13793943C>G | CA359221777 | DNAH5 | c.8003G>C (p.Gly2668Ala) c.7958G>C (p.Gly2653Ala) n.8210G>C c.8111G>C (p.Gly2704Ala) c.7016G>C (p.Gly2339Ala) c.3200G>C (p.Gly1067Ala) c.2753G>C (p.Gly918Ala) c.2090G>C (p.Gly697Ala) c.6605G>C (p.Gly2202Ala) n.8128G>C | |
| 5 | g.13793943C>T | CA359221779 | DNAH5 | c.8003G>A (p.Gly2668Glu) c.7958G>A (p.Gly2653Glu) n.8210G>A c.8111G>A (p.Gly2704Glu) c.7016G>A (p.Gly2339Glu) c.3200G>A (p.Gly1067Glu) c.2753G>A (p.Gly918Glu) c.2090G>A (p.Gly697Glu) c.6605G>A (p.Gly2202Glu) n.8128G>A | gnomAD v4 |
| 5 | g.13793944C>A | CA359221781 | DNAH5 | c.8002G>T (p.Gly2668Ter) c.7957G>T (p.Gly2653Ter) n.8209G>T c.8110G>T (p.Gly2704Ter) c.7015G>T (p.Gly2339Ter) c.3199G>T (p.Gly1067Ter) c.2752G>T (p.Gly918Ter) c.2089G>T (p.Gly697Ter) c.6604G>T (p.Gly2202Ter) n.8127G>T | |
| 5 | g.13793944C= | CA1528441830 | DNAH5 | c.8002G= (p.Gly2668=) c.7957G= (p.Gly2653=) n.8209G= c.8110G= (p.Gly2704=) c.7015G= (p.Gly2339=) c.3199G= (p.Gly1067=) c.2752G= (p.Gly918=) c.2089G= (p.Gly697=) c.6604G= (p.Gly2202=) n.8127G= | |
| 5 | g.13793944C>G | CA359221782 | DNAH5 | c.8002G>C (p.Gly2668Arg) c.7957G>C (p.Gly2653Arg) n.8209G>C c.8110G>C (p.Gly2704Arg) c.7015G>C (p.Gly2339Arg) c.3199G>C (p.Gly1067Arg) c.2752G>C (p.Gly918Arg) c.2089G>C (p.Gly697Arg) c.6604G>C (p.Gly2202Arg) n.8127G>C | |
| 5 | g.13793944C>T | CA3202939 | DNAH5 | c.8002G>A (p.Gly2668Arg) c.7957G>A (p.Gly2653Arg) n.8209G>A c.8110G>A (p.Gly2704Arg) c.7015G>A (p.Gly2339Arg) c.3199G>A (p.Gly1067Arg) c.2752G>A (p.Gly918Arg) c.2089G>A (p.Gly697Arg) c.6604G>A (p.Gly2202Arg) n.8127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13793945C>A | CA359221783 | DNAH5 | c.8001G>T (p.Trp2667Cys) c.7956G>T (p.Trp2652Cys) n.8208G>T c.8109G>T (p.Trp2703Cys) c.7014G>T (p.Trp2338Cys) c.3198G>T (p.Trp1066Cys) c.2751G>T (p.Trp917Cys) c.2088G>T (p.Trp696Cys) c.6603G>T (p.Trp2201Cys) n.8126G>T | |
| 5 | g.13793945C>G | CA359221785 | DNAH5 | c.8001G>C (p.Trp2667Cys) c.7956G>C (p.Trp2652Cys) n.8208G>C c.8109G>C (p.Trp2703Cys) c.7014G>C (p.Trp2338Cys) c.3198G>C (p.Trp1066Cys) c.2751G>C (p.Trp917Cys) c.2088G>C (p.Trp696Cys) c.6603G>C (p.Trp2201Cys) n.8126G>C | |
| 5 | g.13793945C>T | CA359221784 | DNAH5 | c.8001G>A (p.Trp2667Ter) c.7956G>A (p.Trp2652Ter) n.8208G>A c.8109G>A (p.Trp2703Ter) c.7014G>A (p.Trp2338Ter) c.3198G>A (p.Trp1066Ter) c.2751G>A (p.Trp917Ter) c.2088G>A (p.Trp696Ter) c.6603G>A (p.Trp2201Ter) n.8126G>A | ClinVar |
| 5 | g.13793946C>A | CA359221786 | DNAH5 | c.8000G>T (p.Trp2667Leu) c.7955G>T (p.Trp2652Leu) n.8207G>T c.8108G>T (p.Trp2703Leu) c.7013G>T (p.Trp2338Leu) c.3197G>T (p.Trp1066Leu) c.2750G>T (p.Trp917Leu) c.2087G>T (p.Trp696Leu) c.6602G>T (p.Trp2201Leu) n.8125G>T | |
| 5 | g.13793946C= | CA1528441831 | DNAH5 | c.8000G= (p.Trp2667=) c.7955G= (p.Trp2652=) n.8207G= c.8108G= (p.Trp2703=) c.7013G= (p.Trp2338=) c.3197G= (p.Trp1066=) c.2750G= (p.Trp917=) c.2087G= (p.Trp696=) c.6602G= (p.Trp2201=) n.8125G= | |
| 5 | g.13793946C>G | CA359221787 | DNAH5 | c.8000G>C (p.Trp2667Ser) c.7955G>C (p.Trp2652Ser) n.8207G>C c.8108G>C (p.Trp2703Ser) c.7013G>C (p.Trp2338Ser) c.3197G>C (p.Trp1066Ser) c.2750G>C (p.Trp917Ser) c.2087G>C (p.Trp696Ser) c.6602G>C (p.Trp2201Ser) n.8125G>C | |
| 5 | g.13793946C>T | CA359221788 | DNAH5 | c.8000G>A (p.Trp2667Ter) c.7955G>A (p.Trp2652Ter) n.8207G>A c.8108G>A (p.Trp2703Ter) c.7013G>A (p.Trp2338Ter) c.3197G>A (p.Trp1066Ter) c.2750G>A (p.Trp917Ter) c.2087G>A (p.Trp696Ter) c.6602G>A (p.Trp2201Ter) n.8125G>A | ClinVar dbSNP |
| 5 | g.13793947A= | CA1528441832 | DNAH5 | c.7999T= (p.Trp2667=) c.7954T= (p.Trp2652=) n.8206T= c.8107T= (p.Trp2703=) c.7012T= (p.Trp2338=) c.3196T= (p.Trp1066=) c.2749T= (p.Trp917=) c.2086T= (p.Trp696=) c.6601T= (p.Trp2201=) n.8124T= |