Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13776400A>G | CA2673268725 | DNAH5 | c.9373+39T>C (n.9373+39T>C) c.9328+39T>C (n.9328+39T>C) c.9481+39T>C (n.9481+39T>C) c.8386+39T>C (n.8386+39T>C) c.4570+39T>C (n.4570+39T>C) c.4123+39T>C (n.4123+39T>C) c.3460+39T>C (n.3460+39T>C) c.7975+39T>C (n.7975+39T>C) | gnomAD v4 |
5 | g.13776401C= | CA1528434970 | DNAH5 | c.9373+38G= (n.9373+38G=) c.9328+38G= (n.9328+38G=) c.9481+38G= (n.9481+38G=) c.8386+38G= (n.8386+38G=) c.4570+38G= (n.4570+38G=) c.4123+38G= (n.4123+38G=) c.3460+38G= (n.3460+38G=) c.7975+38G= (n.7975+38G=) | |
5 | g.13776401C>T | CA3202571 | DNAH5 | c.9373+38G>A (n.9373+38G>A) c.9328+38G>A (n.9328+38G>A) c.9481+38G>A (n.9481+38G>A) c.8386+38G>A (n.8386+38G>A) c.4570+38G>A (n.4570+38G>A) c.4123+38G>A (n.4123+38G>A) c.3460+38G>A (n.3460+38G>A) c.7975+38G>A (n.7975+38G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776403C= | CA1528434974 | DNAH5 | c.9373+36G= (n.9373+36G=) c.9328+36G= (n.9328+36G=) c.9481+36G= (n.9481+36G=) c.8386+36G= (n.8386+36G=) c.4570+36G= (n.4570+36G=) c.4123+36G= (n.4123+36G=) c.3460+36G= (n.3460+36G=) c.7975+36G= (n.7975+36G=) | |
5 | g.13776403C>G | CA2673268726 | DNAH5 | c.9373+36G>C (n.9373+36G>C) c.9328+36G>C (n.9328+36G>C) c.9481+36G>C (n.9481+36G>C) c.8386+36G>C (n.8386+36G>C) c.4570+36G>C (n.4570+36G>C) c.4123+36G>C (n.4123+36G>C) c.3460+36G>C (n.3460+36G>C) c.7975+36G>C (n.7975+36G>C) | gnomAD v4 |
5 | g.13776403C>T | CA1528434976 | DNAH5 | c.9373+36G>A (n.9373+36G>A) c.9328+36G>A (n.9328+36G>A) c.9481+36G>A (n.9481+36G>A) c.8386+36G>A (n.8386+36G>A) c.4570+36G>A (n.4570+36G>A) c.4123+36G>A (n.4123+36G>A) c.3460+36G>A (n.3460+36G>A) c.7975+36G>A (n.7975+36G>A) | dbSNP gnomAD v4 |
5 | g.13776404A= | CA1528434978 | DNAH5 | c.9373+35T= (n.9373+35T=) c.9328+35T= (n.9328+35T=) c.9481+35T= (n.9481+35T=) c.8386+35T= (n.8386+35T=) c.4570+35T= (n.4570+35T=) c.4123+35T= (n.4123+35T=) c.3460+35T= (n.3460+35T=) c.7975+35T= (n.7975+35T=) | |
5 | g.13776404A>G | CA2673268727 | DNAH5 | c.9373+35T>C (n.9373+35T>C) c.9328+35T>C (n.9328+35T>C) c.9481+35T>C (n.9481+35T>C) c.8386+35T>C (n.8386+35T>C) c.4570+35T>C (n.4570+35T>C) c.4123+35T>C (n.4123+35T>C) c.3460+35T>C (n.3460+35T>C) c.7975+35T>C (n.7975+35T>C) | gnomAD v4 |
5 | g.13776404A>T | CA113937554 | DNAH5 | c.9373+35T>A (n.9373+35T>A) c.9328+35T>A (n.9328+35T>A) c.9481+35T>A (n.9481+35T>A) c.8386+35T>A (n.8386+35T>A) c.4570+35T>A (n.4570+35T>A) c.4123+35T>A (n.4123+35T>A) c.3460+35T>A (n.3460+35T>A) c.7975+35T>A (n.7975+35T>A) | dbSNP |
5 | g.13776404_13776405del | CA2578270017 | DNAH5 | c.9373+34_9373+35del (n.9373+34_9373+35del) c.9328+34_9328+35del (n.9328+34_9328+35del) c.9481+34_9481+35del (n.9481+34_9481+35del) c.8386+34_8386+35del (n.8386+34_8386+35del) c.4570+34_4570+35del (n.4570+34_4570+35del) c.4123+34_4123+35del (n.4123+34_4123+35del) c.3460+34_3460+35del (n.3460+34_3460+35del) c.7975+34_7975+35del (n.7975+34_7975+35del) | gnomAD v4 |
5 | g.13776405T>A | CA2533692869 | DNAH5 | c.9373+34A>T (n.9373+34A>T) c.9328+34A>T (n.9328+34A>T) c.9481+34A>T (n.9481+34A>T) c.8386+34A>T (n.8386+34A>T) c.4570+34A>T (n.4570+34A>T) c.4123+34A>T (n.4123+34A>T) c.3460+34A>T (n.3460+34A>T) c.7975+34A>T (n.7975+34A>T) | gnomAD v4 |
5 | g.13776405T>C | CA557876523 | DNAH5 | c.9373+34A>G (n.9373+34A>G) c.9328+34A>G (n.9328+34A>G) c.9481+34A>G (n.9481+34A>G) c.8386+34A>G (n.8386+34A>G) c.4570+34A>G (n.4570+34A>G) c.4123+34A>G (n.4123+34A>G) c.3460+34A>G (n.3460+34A>G) c.7975+34A>G (n.7975+34A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776405T= | CA1528434983 | DNAH5 | c.9373+34A= (n.9373+34A=) c.9328+34A= (n.9328+34A=) c.9481+34A= (n.9481+34A=) c.8386+34A= (n.8386+34A=) c.4570+34A= (n.4570+34A=) c.4123+34A= (n.4123+34A=) c.3460+34A= (n.3460+34A=) c.7975+34A= (n.7975+34A=) | |
5 | g.13776405_13776406delinsTG | CA1528434981 | DNAH5 | c.9373+33_9373+34delinsCA (n.9373+33_9373+34delinsCA) c.9328+33_9328+34delinsCA (n.9328+33_9328+34delinsCA) c.9481+33_9481+34delinsCA (n.9481+33_9481+34delinsCA) c.8386+33_8386+34delinsCA (n.8386+33_8386+34delinsCA) c.4570+33_4570+34delinsCA (n.4570+33_4570+34delinsCA) c.4123+33_4123+34delinsCA (n.4123+33_4123+34delinsCA) c.3460+33_3460+34delinsCA (n.3460+33_3460+34delinsCA) c.7975+33_7975+34delinsCA (n.7975+33_7975+34delinsCA) | |
5 | g.13776406del | CA3202572 | DNAH5 | c.9373+33del (n.9373+33del) c.9328+33del (n.9328+33del) c.9481+33del (n.9481+33del) c.8386+33del (n.8386+33del) c.4570+33del (n.4570+33del) c.4123+33del (n.4123+33del) c.3460+33del (n.3460+33del) c.7975+33del (n.7975+33del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776406G= | CA1528434985 | DNAH5 | c.9373+33C= (n.9373+33C=) c.9328+33C= (n.9328+33C=) c.9481+33C= (n.9481+33C=) c.8386+33C= (n.8386+33C=) c.4570+33C= (n.4570+33C=) c.4123+33C= (n.4123+33C=) c.3460+33C= (n.3460+33C=) c.7975+33C= (n.7975+33C=) | |
5 | g.13776406G>T | CA1073394349 | DNAH5 | c.9373+33C>A (n.9373+33C>A) c.9328+33C>A (n.9328+33C>A) c.9481+33C>A (n.9481+33C>A) c.8386+33C>A (n.8386+33C>A) c.4570+33C>A (n.4570+33C>A) c.4123+33C>A (n.4123+33C>A) c.3460+33C>A (n.3460+33C>A) c.7975+33C>A (n.7975+33C>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776412C>T | CA2673268729 | DNAH5 | c.9373+27G>A (n.9373+27G>A) c.9328+27G>A (n.9328+27G>A) c.9481+27G>A (n.9481+27G>A) c.8386+27G>A (n.8386+27G>A) c.4570+27G>A (n.4570+27G>A) c.4123+27G>A (n.4123+27G>A) c.3460+27G>A (n.3460+27G>A) c.7975+27G>A (n.7975+27G>A) | gnomAD v4 |
5 | g.13776414del | CA2673268728 | DNAH5 | c.9373+27del (n.9373+27del) c.9328+27del (n.9328+27del) c.9481+27del (n.9481+27del) c.8386+27del (n.8386+27del) c.4570+27del (n.4570+27del) c.4123+27del (n.4123+27del) c.3460+27del (n.3460+27del) c.7975+27del (n.7975+27del) | gnomAD v4 |
5 | g.13776413C>T | CA2673268730 | DNAH5 | c.9373+26G>A (n.9373+26G>A) c.9328+26G>A (n.9328+26G>A) c.9481+26G>A (n.9481+26G>A) c.8386+26G>A (n.8386+26G>A) c.4570+26G>A (n.4570+26G>A) c.4123+26G>A (n.4123+26G>A) c.3460+26G>A (n.3460+26G>A) c.7975+26G>A (n.7975+26G>A) | gnomAD v4 |
5 | g.13776414C>A | CA2578270019 | DNAH5 | c.9373+25G>T (n.9373+25G>T) c.9328+25G>T (n.9328+25G>T) c.9481+25G>T (n.9481+25G>T) c.8386+25G>T (n.8386+25G>T) c.4570+25G>T (n.4570+25G>T) c.4123+25G>T (n.4123+25G>T) c.3460+25G>T (n.3460+25G>T) c.7975+25G>T (n.7975+25G>T) | gnomAD v4 |
5 | g.13776414C>T | CA2708214353 | DNAH5 | c.9373+25G>A (n.9373+25G>A) c.9328+25G>A (n.9328+25G>A) c.9481+25G>A (n.9481+25G>A) c.8386+25G>A (n.8386+25G>A) c.4570+25G>A (n.4570+25G>A) c.4123+25G>A (n.4123+25G>A) c.3460+25G>A (n.3460+25G>A) c.7975+25G>A (n.7975+25G>A) | dbSNP |
5 | g.13776414_13776415delinsCT | CA1528434987 | DNAH5 | c.9373+24_9373+25delinsAG (n.9373+24_9373+25delinsAG) c.9328+24_9328+25delinsAG (n.9328+24_9328+25delinsAG) c.9481+24_9481+25delinsAG (n.9481+24_9481+25delinsAG) c.8386+24_8386+25delinsAG (n.8386+24_8386+25delinsAG) c.4570+24_4570+25delinsAG (n.4570+24_4570+25delinsAG) c.4123+24_4123+25delinsAG (n.4123+24_4123+25delinsAG) c.3460+24_3460+25delinsAG (n.3460+24_3460+25delinsAG) c.7975+24_7975+25delinsAG (n.7975+24_7975+25delinsAG) | |
5 | g.13776415del | CA3202573 | DNAH5 | c.9373+24del (n.9373+24del) c.9328+24del (n.9328+24del) c.9481+24del (n.9481+24del) c.8386+24del (n.8386+24del) c.4570+24del (n.4570+24del) c.4123+24del (n.4123+24del) c.3460+24del (n.3460+24del) c.7975+24del (n.7975+24del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776415T>G | CA2578270021 | DNAH5 | c.9373+24A>C (n.9373+24A>C) c.9328+24A>C (n.9328+24A>C) c.9481+24A>C (n.9481+24A>C) c.8386+24A>C (n.8386+24A>C) c.4570+24A>C (n.4570+24A>C) c.4123+24A>C (n.4123+24A>C) c.3460+24A>C (n.3460+24A>C) c.7975+24A>C (n.7975+24A>C) | |
5 | g.13776416G>A | CA2765348258 | DNAH5 | c.9373+23C>T (n.9373+23C>T) c.9328+23C>T (n.9328+23C>T) c.9481+23C>T (n.9481+23C>T) c.8386+23C>T (n.8386+23C>T) c.4570+23C>T (n.4570+23C>T) c.4123+23C>T (n.4123+23C>T) c.3460+23C>T (n.3460+23C>T) c.7975+23C>T (n.7975+23C>T) | |
5 | g.13776417G>A | CA804427054 | DNAH5 | c.9373+22C>T (n.9373+22C>T) c.9328+22C>T (n.9328+22C>T) c.9481+22C>T (n.9481+22C>T) c.8386+22C>T (n.8386+22C>T) c.4570+22C>T (n.4570+22C>T) c.4123+22C>T (n.4123+22C>T) c.3460+22C>T (n.3460+22C>T) c.7975+22C>T (n.7975+22C>T) | dbSNP |
5 | g.13776417G= | CA1528434990 | DNAH5 | c.9373+22C= (n.9373+22C=) c.9328+22C= (n.9328+22C=) c.9481+22C= (n.9481+22C=) c.8386+22C= (n.8386+22C=) c.4570+22C= (n.4570+22C=) c.4123+22C= (n.4123+22C=) c.3460+22C= (n.3460+22C=) c.7975+22C= (n.7975+22C=) | |
5 | g.13776417G>T | CA649997586 | DNAH5 | c.9373+22C>A (n.9373+22C>A) c.9328+22C>A (n.9328+22C>A) c.9481+22C>A (n.9481+22C>A) c.8386+22C>A (n.8386+22C>A) c.4570+22C>A (n.4570+22C>A) c.4123+22C>A (n.4123+22C>A) c.3460+22C>A (n.3460+22C>A) c.7975+22C>A (n.7975+22C>A) | COSMIC |
5 | g.13776418C>A | CA804427058 | DNAH5 | c.9373+21G>T (n.9373+21G>T) c.9328+21G>T (n.9328+21G>T) c.9481+21G>T (n.9481+21G>T) c.8386+21G>T (n.8386+21G>T) c.4570+21G>T (n.4570+21G>T) c.4123+21G>T (n.4123+21G>T) c.3460+21G>T (n.3460+21G>T) c.7975+21G>T (n.7975+21G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13776418C= | CA1528434992 | DNAH5 | c.9373+21G= (n.9373+21G=) c.9328+21G= (n.9328+21G=) c.9481+21G= (n.9481+21G=) c.8386+21G= (n.8386+21G=) c.4570+21G= (n.4570+21G=) c.4123+21G= (n.4123+21G=) c.3460+21G= (n.3460+21G=) c.7975+21G= (n.7975+21G=) | |
5 | g.13776418C>T | CA2838307976 | DNAH5 | c.9373+21G>A (n.9373+21G>A) c.9328+21G>A (n.9328+21G>A) c.9481+21G>A (n.9481+21G>A) c.8386+21G>A (n.8386+21G>A) c.4570+21G>A (n.4570+21G>A) c.4123+21G>A (n.4123+21G>A) c.3460+21G>A (n.3460+21G>A) c.7975+21G>A (n.7975+21G>A) | |
5 | g.13776423A>T | CA2740617141 | DNAH5 | c.9373+16T>A (n.9373+16T>A) c.9328+16T>A (n.9328+16T>A) c.9481+16T>A (n.9481+16T>A) c.8386+16T>A (n.8386+16T>A) c.4570+16T>A (n.4570+16T>A) c.4123+16T>A (n.4123+16T>A) c.3460+16T>A (n.3460+16T>A) c.7975+16T>A (n.7975+16T>A) | |
5 | g.13776426T>A | CA2578270022 | DNAH5 | c.9373+13A>T (n.9373+13A>T) c.9328+13A>T (n.9328+13A>T) c.9481+13A>T (n.9481+13A>T) c.8386+13A>T (n.8386+13A>T) c.4570+13A>T (n.4570+13A>T) c.4123+13A>T (n.4123+13A>T) c.3460+13A>T (n.3460+13A>T) c.7975+13A>T (n.7975+13A>T) | |
5 | g.13776426T>C | CA2697547082 | DNAH5 | c.9373+13A>G (n.9373+13A>G) c.9328+13A>G (n.9328+13A>G) c.9481+13A>G (n.9481+13A>G) c.8386+13A>G (n.8386+13A>G) c.4570+13A>G (n.4570+13A>G) c.4123+13A>G (n.4123+13A>G) c.3460+13A>G (n.3460+13A>G) c.7975+13A>G (n.7975+13A>G) | ClinVar |
5 | g.13776429C>A | CA3202574 | DNAH5 | c.9373+10G>T (n.9373+10G>T) c.9328+10G>T (n.9328+10G>T) c.9481+10G>T (n.9481+10G>T) c.8386+10G>T (n.8386+10G>T) c.4570+10G>T (n.4570+10G>T) c.4123+10G>T (n.4123+10G>T) c.3460+10G>T (n.3460+10G>T) c.7975+10G>T (n.7975+10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776429C= | CA1528434994 | DNAH5 | c.9373+10G= (n.9373+10G=) c.9328+10G= (n.9328+10G=) c.9481+10G= (n.9481+10G=) c.8386+10G= (n.8386+10G=) c.4570+10G= (n.4570+10G=) c.4123+10G= (n.4123+10G=) c.3460+10G= (n.3460+10G=) c.7975+10G= (n.7975+10G=) | |
5 | g.13776430C>T | CA2573138466 | DNAH5 | c.9373+9G>A (n.9373+9G>A) c.9328+9G>A (n.9328+9G>A) c.9481+9G>A (n.9481+9G>A) c.8386+9G>A (n.8386+9G>A) c.4570+9G>A (n.4570+9G>A) c.4123+9G>A (n.4123+9G>A) c.3460+9G>A (n.3460+9G>A) c.7975+9G>A (n.7975+9G>A) | ClinVar dbSNP |
5 | g.13776431A= | CA1528434997 | DNAH5 | c.9373+8T= (n.9373+8T=) c.9328+8T= (n.9328+8T=) c.9481+8T= (n.9481+8T=) c.8386+8T= (n.8386+8T=) c.4570+8T= (n.4570+8T=) c.4123+8T= (n.4123+8T=) c.3460+8T= (n.3460+8T=) c.7975+8T= (n.7975+8T=) | |
5 | g.13776431A>G | CA1528434998 | DNAH5 | c.9373+8T>C (n.9373+8T>C) c.9328+8T>C (n.9328+8T>C) c.9481+8T>C (n.9481+8T>C) c.8386+8T>C (n.8386+8T>C) c.4570+8T>C (n.4570+8T>C) c.4123+8T>C (n.4123+8T>C) c.3460+8T>C (n.3460+8T>C) c.7975+8T>C (n.7975+8T>C) | dbSNP gnomAD v4 |
5 | g.13776431A>T | CA3202575 | DNAH5 | c.9373+8T>A (n.9373+8T>A) c.9328+8T>A (n.9328+8T>A) c.9481+8T>A (n.9481+8T>A) c.8386+8T>A (n.8386+8T>A) c.4570+8T>A (n.4570+8T>A) c.4123+8T>A (n.4123+8T>A) c.3460+8T>A (n.3460+8T>A) c.7975+8T>A (n.7975+8T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776432T>C | CA1528435001 | DNAH5 | c.9373+7A>G (n.9373+7A>G) c.9328+7A>G (n.9328+7A>G) c.9481+7A>G (n.9481+7A>G) c.8386+7A>G (n.8386+7A>G) c.4570+7A>G (n.4570+7A>G) c.4123+7A>G (n.4123+7A>G) c.3460+7A>G (n.3460+7A>G) c.7975+7A>G (n.7975+7A>G) | dbSNP gnomAD v4 |
5 | g.13776432T= | CA1528435000 | DNAH5 | c.9373+7A= (n.9373+7A=) c.9328+7A= (n.9328+7A=) c.9481+7A= (n.9481+7A=) c.8386+7A= (n.8386+7A=) c.4570+7A= (n.4570+7A=) c.4123+7A= (n.4123+7A=) c.3460+7A= (n.3460+7A=) c.7975+7A= (n.7975+7A=) | |
5 | g.13776433A= | CA1528435005 | DNAH5 | c.9373+6T= (n.9373+6T=) c.9328+6T= (n.9328+6T=) c.9481+6T= (n.9481+6T=) c.8386+6T= (n.8386+6T=) c.4570+6T= (n.4570+6T=) c.4123+6T= (n.4123+6T=) c.3460+6T= (n.3460+6T=) c.7975+6T= (n.7975+6T=) | |
5 | g.13776433A>G | CA3202576 | DNAH5 | c.9373+6T>C (n.9373+6T>C) c.9328+6T>C (n.9328+6T>C) c.9481+6T>C (n.9481+6T>C) c.8386+6T>C (n.8386+6T>C) c.4570+6T>C (n.4570+6T>C) c.4123+6T>C (n.4123+6T>C) c.3460+6T>C (n.3460+6T>C) c.7975+6T>C (n.7975+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776434C>G | CA2673268731 | DNAH5 | c.9373+5G>C (n.9373+5G>C) c.9328+5G>C (n.9328+5G>C) c.9481+5G>C (n.9481+5G>C) c.8386+5G>C (n.8386+5G>C) c.4570+5G>C (n.4570+5G>C) c.4123+5G>C (n.4123+5G>C) c.3460+5G>C (n.3460+5G>C) c.7975+5G>C (n.7975+5G>C) | gnomAD v4 |
5 | g.13776435T>C | CA2673268732 | DNAH5 | c.9373+4A>G (n.9373+4A>G) c.9328+4A>G (n.9328+4A>G) c.9481+4A>G (n.9481+4A>G) c.8386+4A>G (n.8386+4A>G) c.4570+4A>G (n.4570+4A>G) c.4123+4A>G (n.4123+4A>G) c.3460+4A>G (n.3460+4A>G) c.7975+4A>G (n.7975+4A>G) | gnomAD v4 |
5 | g.13776436A>T | CA2578270024 | DNAH5 | c.9373+3T>A (n.9373+3T>A) c.9328+3T>A (n.9328+3T>A) c.9481+3T>A (n.9481+3T>A) c.8386+3T>A (n.8386+3T>A) c.4570+3T>A (n.4570+3T>A) c.4123+3T>A (n.4123+3T>A) c.3460+3T>A (n.3460+3T>A) c.7975+3T>A (n.7975+3T>A) | |
5 | g.13776437A>C | CA359207655 | DNAH5 | c.9373+2T>G (n.9373+2T>G) c.9328+2T>G (n.9328+2T>G) c.9481+2T>G (n.9481+2T>G) c.8386+2T>G (n.8386+2T>G) c.4570+2T>G (n.4570+2T>G) c.4123+2T>G (n.4123+2T>G) c.3460+2T>G (n.3460+2T>G) c.7975+2T>G (n.7975+2T>G) | |
5 | g.13776437A>G | CA359207656 | DNAH5 | c.9373+2T>C (n.9373+2T>C) c.9328+2T>C (n.9328+2T>C) c.9481+2T>C (n.9481+2T>C) c.8386+2T>C (n.8386+2T>C) c.4570+2T>C (n.4570+2T>C) c.4123+2T>C (n.4123+2T>C) c.3460+2T>C (n.3460+2T>C) c.7975+2T>C (n.7975+2T>C) | |
5 | g.13776437A>T | CA359207657 | DNAH5 | c.9373+2T>A (n.9373+2T>A) c.9328+2T>A (n.9328+2T>A) c.9481+2T>A (n.9481+2T>A) c.8386+2T>A (n.8386+2T>A) c.4570+2T>A (n.4570+2T>A) c.4123+2T>A (n.4123+2T>A) c.3460+2T>A (n.3460+2T>A) c.7975+2T>A (n.7975+2T>A) | |
5 | g.13776438C>A | CA359207658 | DNAH5 | c.9373+1G>T (n.9373+1G>T) c.9328+1G>T (n.9328+1G>T) c.9481+1G>T (n.9481+1G>T) c.8386+1G>T (n.8386+1G>T) c.4570+1G>T (n.4570+1G>T) c.4123+1G>T (n.4123+1G>T) c.3460+1G>T (n.3460+1G>T) c.7975+1G>T (n.7975+1G>T) | ClinVar |
5 | g.13776438C= | CA1528435009 | DNAH5 | c.9373+1G= (n.9373+1G=) c.9328+1G= (n.9328+1G=) c.9481+1G= (n.9481+1G=) c.8386+1G= (n.8386+1G=) c.4570+1G= (n.4570+1G=) c.4123+1G= (n.4123+1G=) c.3460+1G= (n.3460+1G=) c.7975+1G= (n.7975+1G=) | |
5 | g.13776438C>G | CA359207665 | DNAH5 | c.9373+1G>C (n.9373+1G>C) c.9328+1G>C (n.9328+1G>C) c.9481+1G>C (n.9481+1G>C) c.8386+1G>C (n.8386+1G>C) c.4570+1G>C (n.4570+1G>C) c.4123+1G>C (n.4123+1G>C) c.3460+1G>C (n.3460+1G>C) c.7975+1G>C (n.7975+1G>C) | ClinVar dbSNP |
5 | g.13776438C>T | CA359207669 | DNAH5 | c.9373+1G>A (n.9373+1G>A) c.9328+1G>A (n.9328+1G>A) c.9481+1G>A (n.9481+1G>A) c.8386+1G>A (n.8386+1G>A) c.4570+1G>A (n.4570+1G>A) c.4123+1G>A (n.4123+1G>A) c.3460+1G>A (n.3460+1G>A) c.7975+1G>A (n.7975+1G>A) | |
5 | g.13776439C>A | CA359207688 | DNAH5 | c.9373G>T (p.Val3125Leu) c.9328G>T (p.Val3110Leu) c.9481G>T (p.Val3161Leu) c.8386G>T (p.Val2796Leu) c.4570G>T (p.Val1524Leu) c.4123G>T (p.Val1375Leu) c.3460G>T (p.Val1154Leu) c.7975G>T (p.Val2659Leu) | |
5 | g.13776439C>G | CA359207676 | DNAH5 | c.9373G>C (p.Val3125Leu) c.9328G>C (p.Val3110Leu) c.9481G>C (p.Val3161Leu) c.8386G>C (p.Val2796Leu) c.4570G>C (p.Val1524Leu) c.4123G>C (p.Val1375Leu) c.3460G>C (p.Val1154Leu) c.7975G>C (p.Val2659Leu) | |
5 | g.13776439C>T | CA359207681 | DNAH5 | c.9373G>A (p.Val3125Met) c.9328G>A (p.Val3110Met) c.9481G>A (p.Val3161Met) c.8386G>A (p.Val2796Met) c.4570G>A (p.Val1524Met) c.4123G>A (p.Val1375Met) c.3460G>A (p.Val1154Met) c.7975G>A (p.Val2659Met) | |
5 | g.13776440A>C | CA443535631 | DNAH5 | c.9372T>G (p.Ala3124=) c.9327T>G (p.Ala3109=) c.9480T>G (p.Ala3160=) c.8385T>G (p.Ala2795=) c.4569T>G (p.Ala1523=) c.4122T>G (p.Ala1374=) c.3459T>G (p.Ala1153=) c.7974T>G (p.Ala2658=) | |
5 | g.13776440A>G | CA443535632 | DNAH5 | c.9372T>C (p.Ala3124=) c.9327T>C (p.Ala3109=) c.9480T>C (p.Ala3160=) c.8385T>C (p.Ala2795=) c.4569T>C (p.Ala1523=) c.4122T>C (p.Ala1374=) c.3459T>C (p.Ala1153=) c.7974T>C (p.Ala2658=) | |
5 | g.13776440A>T | CA443535633 | DNAH5 | c.9372T>A (p.Ala3124=) c.9327T>A (p.Ala3109=) c.9480T>A (p.Ala3160=) c.8385T>A (p.Ala2795=) c.4569T>A (p.Ala1523=) c.4122T>A (p.Ala1374=) c.3459T>A (p.Ala1153=) c.7974T>A (p.Ala2658=) | |
5 | g.13776441G>A | CA359207700 | DNAH5 | c.9371C>T (p.Ala3124Val) c.9326C>T (p.Ala3109Val) c.9479C>T (p.Ala3160Val) c.8384C>T (p.Ala2795Val) c.4568C>T (p.Ala1523Val) c.4121C>T (p.Ala1374Val) c.3458C>T (p.Ala1153Val) c.7973C>T (p.Ala2658Val) | |
5 | g.13776441G>C | CA359207705 | DNAH5 | c.9371C>G (p.Ala3124Gly) c.9326C>G (p.Ala3109Gly) c.9479C>G (p.Ala3160Gly) c.8384C>G (p.Ala2795Gly) c.4568C>G (p.Ala1523Gly) c.4121C>G (p.Ala1374Gly) c.3458C>G (p.Ala1153Gly) c.7973C>G (p.Ala2658Gly) | |
5 | g.13776441G>T | CA359207708 | DNAH5 | c.9371C>A (p.Ala3124Asp) c.9326C>A (p.Ala3109Asp) c.9479C>A (p.Ala3160Asp) c.8384C>A (p.Ala2795Asp) c.4568C>A (p.Ala1523Asp) c.4121C>A (p.Ala1374Asp) c.3458C>A (p.Ala1153Asp) c.7973C>A (p.Ala2658Asp) | |
5 | g.13776442C>A | CA359207730 | DNAH5 | c.9370G>T (p.Ala3124Ser) c.9325G>T (p.Ala3109Ser) c.9478G>T (p.Ala3160Ser) c.8383G>T (p.Ala2795Ser) c.4567G>T (p.Ala1523Ser) c.4120G>T (p.Ala1374Ser) c.3457G>T (p.Ala1153Ser) c.7972G>T (p.Ala2658Ser) | |
5 | g.13776442C>G | CA359207733 | DNAH5 | c.9370G>C (p.Ala3124Pro) c.9325G>C (p.Ala3109Pro) c.9478G>C (p.Ala3160Pro) c.8383G>C (p.Ala2795Pro) c.4567G>C (p.Ala1523Pro) c.4120G>C (p.Ala1374Pro) c.3457G>C (p.Ala1153Pro) c.7972G>C (p.Ala2658Pro) | |
5 | g.13776442C>T | CA359207741 | DNAH5 | c.9370G>A (p.Ala3124Thr) c.9325G>A (p.Ala3109Thr) c.9478G>A (p.Ala3160Thr) c.8383G>A (p.Ala2795Thr) c.4567G>A (p.Ala1523Thr) c.4120G>A (p.Ala1374Thr) c.3457G>A (p.Ala1153Thr) c.7972G>A (p.Ala2658Thr) | |
5 | g.13776443A>C | CA443535634 | DNAH5 | c.9369T>G (p.Val3123=) c.9324T>G (p.Val3108=) c.9477T>G (p.Val3159=) c.8382T>G (p.Val2794=) c.4566T>G (p.Val1522=) c.4119T>G (p.Val1373=) c.3456T>G (p.Val1152=) c.7971T>G (p.Val2657=) | |
5 | g.13776443A>G | CA443535635 | DNAH5 | c.9369T>C (p.Val3123=) c.9324T>C (p.Val3108=) c.9477T>C (p.Val3159=) c.8382T>C (p.Val2794=) c.4566T>C (p.Val1522=) c.4119T>C (p.Val1373=) c.3456T>C (p.Val1152=) c.7971T>C (p.Val2657=) | |
5 | g.13776443A>T | CA443535636 | DNAH5 | c.9369T>A (p.Val3123=) c.9324T>A (p.Val3108=) c.9477T>A (p.Val3159=) c.8382T>A (p.Val2794=) c.4566T>A (p.Val1522=) c.4119T>A (p.Val1373=) c.3456T>A (p.Val1152=) c.7971T>A (p.Val2657=) | |
5 | g.13776444A>C | CA359207744 | DNAH5 | c.9368T>G (p.Val3123Gly) c.9323T>G (p.Val3108Gly) c.9476T>G (p.Val3159Gly) c.8381T>G (p.Val2794Gly) c.4565T>G (p.Val1522Gly) c.4118T>G (p.Val1373Gly) c.3455T>G (p.Val1152Gly) c.7970T>G (p.Val2657Gly) | |
5 | g.13776444A>G | CA359207752 | DNAH5 | c.9368T>C (p.Val3123Ala) c.9323T>C (p.Val3108Ala) c.9476T>C (p.Val3159Ala) c.8381T>C (p.Val2794Ala) c.4565T>C (p.Val1522Ala) c.4118T>C (p.Val1373Ala) c.3455T>C (p.Val1152Ala) c.7970T>C (p.Val2657Ala) | |
5 | g.13776444A>T | CA359207767 | DNAH5 | c.9368T>A (p.Val3123Asp) c.9323T>A (p.Val3108Asp) c.9476T>A (p.Val3159Asp) c.8381T>A (p.Val2794Asp) c.4565T>A (p.Val1522Asp) c.4118T>A (p.Val1373Asp) c.3455T>A (p.Val1152Asp) c.7970T>A (p.Val2657Asp) | |
5 | g.13776445C>A | CA359207773 | DNAH5 | c.9367G>T (p.Val3123Phe) c.9322G>T (p.Val3108Phe) c.9475G>T (p.Val3159Phe) c.8380G>T (p.Val2794Phe) c.4564G>T (p.Val1522Phe) c.4117G>T (p.Val1373Phe) c.3454G>T (p.Val1152Phe) c.7969G>T (p.Val2657Phe) | |
5 | g.13776445C= | CA1528435014 | DNAH5 | c.9367G= (p.Val3123=) c.9322G= (p.Val3108=) c.9475G= (p.Val3159=) c.8380G= (p.Val2794=) c.4564G= (p.Val1522=) c.4117G= (p.Val1373=) c.3454G= (p.Val1152=) c.7969G= (p.Val2657=) | |
5 | g.13776445C>G | CA359207775 | DNAH5 | c.9367G>C (p.Val3123Leu) c.9322G>C (p.Val3108Leu) c.9475G>C (p.Val3159Leu) c.8380G>C (p.Val2794Leu) c.4564G>C (p.Val1522Leu) c.4117G>C (p.Val1373Leu) c.3454G>C (p.Val1152Leu) c.7969G>C (p.Val2657Leu) | |
5 | g.13776445C>T | CA359207783 | DNAH5 | c.9367G>A (p.Val3123Ile) c.9322G>A (p.Val3108Ile) c.9475G>A (p.Val3159Ile) c.8380G>A (p.Val2794Ile) c.4564G>A (p.Val1522Ile) c.4117G>A (p.Val1373Ile) c.3454G>A (p.Val1152Ile) c.7969G>A (p.Val2657Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776446T>A | CA359207790 | DNAH5 | c.9366A>T (p.Leu3122Phe) c.9321A>T (p.Leu3107Phe) c.9474A>T (p.Leu3158Phe) c.8379A>T (p.Leu2793Phe) c.4563A>T (p.Leu1521Phe) c.4116A>T (p.Leu1372Phe) c.3453A>T (p.Leu1151Phe) c.7968A>T (p.Leu2656Phe) | |
5 | g.13776446T>C | CA443535642 | DNAH5 | c.9366A>G (p.Leu3122=) c.9321A>G (p.Leu3107=) c.9474A>G (p.Leu3158=) c.8379A>G (p.Leu2793=) c.4563A>G (p.Leu1521=) c.4116A>G (p.Leu1372=) c.3453A>G (p.Leu1151=) c.7968A>G (p.Leu2656=) | |
5 | g.13776446T>G | CA359207788 | DNAH5 | c.9366A>C (p.Leu3122Phe) c.9321A>C (p.Leu3107Phe) c.9474A>C (p.Leu3158Phe) c.8379A>C (p.Leu2793Phe) c.4563A>C (p.Leu1521Phe) c.4116A>C (p.Leu1372Phe) c.3453A>C (p.Leu1151Phe) c.7968A>C (p.Leu2656Phe) | |
5 | g.13776446_13776447delinsTA | CA1528435018 | DNAH5 | c.9365_9366delinsTA (p.Leu3122=) c.9320_9321delinsTA (p.Leu3107=) c.9473_9474delinsTA (p.Leu3158=) c.8378_8379delinsTA (p.Leu2793=) c.4562_4563delinsTA (p.Leu1521=) c.4115_4116delinsTA (p.Leu1372=) c.3452_3453delinsTA (p.Leu1151=) c.7967_7968delinsTA (p.Leu2656=) | |
5 | g.13776447A>C | CA359207791 | DNAH5 | c.9365T>G (p.Leu3122Ter) c.9320T>G (p.Leu3107Ter) c.9473T>G (p.Leu3158Ter) c.8378T>G (p.Leu2793Ter) c.4562T>G (p.Leu1521Ter) c.4115T>G (p.Leu1372Ter) c.3452T>G (p.Leu1151Ter) c.7967T>G (p.Leu2656Ter) | |
5 | g.13776447A>G | CA359207792 | DNAH5 | c.9365T>C (p.Leu3122Ser) c.9320T>C (p.Leu3107Ser) c.9473T>C (p.Leu3158Ser) c.8378T>C (p.Leu2793Ser) c.4562T>C (p.Leu1521Ser) c.4115T>C (p.Leu1372Ser) c.3452T>C (p.Leu1151Ser) c.7967T>C (p.Leu2656Ser) | gnomAD v4 |
5 | g.13776447A>T | CA359207794 | DNAH5 | c.9365T>A (p.Leu3122Ter) c.9320T>A (p.Leu3107Ter) c.9473T>A (p.Leu3158Ter) c.8378T>A (p.Leu2793Ter) c.4562T>A (p.Leu1521Ter) c.4115T>A (p.Leu1372Ter) c.3452T>A (p.Leu1151Ter) c.7967T>A (p.Leu2656Ter) | dbSNP |
5 | g.13776449del | CA16609697 | DNAH5 | c.9365del (p.Leu3122Ter) c.9320del (p.Leu3107Ter) c.9473del (p.Leu3158Ter) c.8378del (p.Leu2793Ter) c.4562del (p.Leu1521Ter) c.4115del (p.Leu1372Ter) c.3452del (p.Leu1151Ter) c.7967del (p.Leu2656Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776448A>C | CA359207802 | DNAH5 | c.9364T>G (p.Leu3122Val) c.9319T>G (p.Leu3107Val) c.9472T>G (p.Leu3158Val) c.8377T>G (p.Leu2793Val) c.4561T>G (p.Leu1521Val) c.4114T>G (p.Leu1372Val) c.3451T>G (p.Leu1151Val) c.7966T>G (p.Leu2656Val) | |
5 | g.13776448A>G | CA443535644 | DNAH5 | c.9364T>C (p.Leu3122=) c.9319T>C (p.Leu3107=) c.9472T>C (p.Leu3158=) c.8377T>C (p.Leu2793=) c.4561T>C (p.Leu1521=) c.4114T>C (p.Leu1372=) c.3451T>C (p.Leu1151=) c.7966T>C (p.Leu2656=) | |
5 | g.13776448A>T | CA359207809 | DNAH5 | c.9364T>A (p.Leu3122Ile) c.9319T>A (p.Leu3107Ile) c.9472T>A (p.Leu3158Ile) c.8377T>A (p.Leu2793Ile) c.4561T>A (p.Leu1521Ile) c.4114T>A (p.Leu1372Ile) c.3451T>A (p.Leu1151Ile) c.7966T>A (p.Leu2656Ile) | |
5 | g.13776449A>C | CA443535645 | DNAH5 | c.9363T>G (p.Ala3121=) c.9318T>G (p.Ala3106=) c.9471T>G (p.Ala3157=) c.8376T>G (p.Ala2792=) c.4560T>G (p.Ala1520=) c.4113T>G (p.Ala1371=) c.3450T>G (p.Ala1150=) c.7965T>G (p.Ala2655=) | |
5 | g.13776449A>G | CA443535646 | DNAH5 | c.9363T>C (p.Ala3121=) c.9318T>C (p.Ala3106=) c.9471T>C (p.Ala3157=) c.8376T>C (p.Ala2792=) c.4560T>C (p.Ala1520=) c.4113T>C (p.Ala1371=) c.3450T>C (p.Ala1150=) c.7965T>C (p.Ala2655=) | |
5 | g.13776449A>T | CA443535648 | DNAH5 | c.9363T>A (p.Ala3121=) c.9318T>A (p.Ala3106=) c.9471T>A (p.Ala3157=) c.8376T>A (p.Ala2792=) c.4560T>A (p.Ala1520=) c.4113T>A (p.Ala1371=) c.3450T>A (p.Ala1150=) c.7965T>A (p.Ala2655=) | |
5 | g.13776450G>A | CA359207816 | DNAH5 | c.9362C>T (p.Ala3121Val) c.9317C>T (p.Ala3106Val) c.9470C>T (p.Ala3157Val) c.8375C>T (p.Ala2792Val) c.4559C>T (p.Ala1520Val) c.4112C>T (p.Ala1371Val) c.3449C>T (p.Ala1150Val) c.7964C>T (p.Ala2655Val) | gnomAD v4 |
5 | g.13776450G>C | CA359207819 | DNAH5 | c.9362C>G (p.Ala3121Gly) c.9317C>G (p.Ala3106Gly) c.9470C>G (p.Ala3157Gly) c.8375C>G (p.Ala2792Gly) c.4559C>G (p.Ala1520Gly) c.4112C>G (p.Ala1371Gly) c.3449C>G (p.Ala1150Gly) c.7964C>G (p.Ala2655Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776450G= | CA1528435027 | DNAH5 | c.9362C= (p.Ala3121=) c.9317C= (p.Ala3106=) c.9470C= (p.Ala3157=) c.8375C= (p.Ala2792=) c.4559C= (p.Ala1520=) c.4112C= (p.Ala1371=) c.3449C= (p.Ala1150=) c.7964C= (p.Ala2655=) | |
5 | g.13776450G>T | CA359207825 | DNAH5 | c.9362C>A (p.Ala3121Asp) c.9317C>A (p.Ala3106Asp) c.9470C>A (p.Ala3157Asp) c.8375C>A (p.Ala2792Asp) c.4559C>A (p.Ala1520Asp) c.4112C>A (p.Ala1371Asp) c.3449C>A (p.Ala1150Asp) c.7964C>A (p.Ala2655Asp) | |
5 | g.13776451C>A | CA359207829 | DNAH5 | c.9361G>T (p.Ala3121Ser) c.9316G>T (p.Ala3106Ser) c.9469G>T (p.Ala3157Ser) c.8374G>T (p.Ala2792Ser) c.4558G>T (p.Ala1520Ser) c.4111G>T (p.Ala1371Ser) c.3448G>T (p.Ala1150Ser) c.7963G>T (p.Ala2655Ser) | |
5 | g.13776451C>G | CA359207833 | DNAH5 | c.9361G>C (p.Ala3121Pro) c.9316G>C (p.Ala3106Pro) c.9469G>C (p.Ala3157Pro) c.8374G>C (p.Ala2792Pro) c.4558G>C (p.Ala1520Pro) c.4111G>C (p.Ala1371Pro) c.3448G>C (p.Ala1150Pro) c.7963G>C (p.Ala2655Pro) | |
5 | g.13776451C>T | CA359207836 | DNAH5 | c.9361G>A (p.Ala3121Thr) c.9316G>A (p.Ala3106Thr) c.9469G>A (p.Ala3157Thr) c.8374G>A (p.Ala2792Thr) c.4558G>A (p.Ala1520Thr) c.4111G>A (p.Ala1371Thr) c.3448G>A (p.Ala1150Thr) c.7963G>A (p.Ala2655Thr) | gnomAD v4 |
5 | g.13776452A>C | CA359207843 | DNAH5 | c.9360T>G (p.Asp3120Glu) c.9315T>G (p.Asp3105Glu) c.9468T>G (p.Asp3156Glu) c.8373T>G (p.Asp2791Glu) c.4557T>G (p.Asp1519Glu) c.4110T>G (p.Asp1370Glu) c.3447T>G (p.Asp1149Glu) c.7962T>G (p.Asp2654Glu) | |
5 | g.13776452A>G | CA443535650 | DNAH5 | c.9360T>C (p.Asp3120=) c.9315T>C (p.Asp3105=) c.9468T>C (p.Asp3156=) c.8373T>C (p.Asp2791=) c.4557T>C (p.Asp1519=) c.4110T>C (p.Asp1370=) c.3447T>C (p.Asp1149=) c.7962T>C (p.Asp2654=) | |
5 | g.13776452A>T | CA359207847 | DNAH5 | c.9360T>A (p.Asp3120Glu) c.9315T>A (p.Asp3105Glu) c.9468T>A (p.Asp3156Glu) c.8373T>A (p.Asp2791Glu) c.4557T>A (p.Asp1519Glu) c.4110T>A (p.Asp1370Glu) c.3447T>A (p.Asp1149Glu) c.7962T>A (p.Asp2654Glu) | |
5 | g.13776453T>A | CA359207866 | DNAH5 | c.9359A>T (p.Asp3120Val) c.9314A>T (p.Asp3105Val) c.9467A>T (p.Asp3156Val) c.8372A>T (p.Asp2791Val) c.4556A>T (p.Asp1519Val) c.4109A>T (p.Asp1370Val) c.3446A>T (p.Asp1149Val) c.7961A>T (p.Asp2654Val) | |
5 | g.13776453T>C | CA359207862 | DNAH5 | c.9359A>G (p.Asp3120Gly) c.9314A>G (p.Asp3105Gly) c.9467A>G (p.Asp3156Gly) c.8372A>G (p.Asp2791Gly) c.4556A>G (p.Asp1519Gly) c.4109A>G (p.Asp1370Gly) c.3446A>G (p.Asp1149Gly) c.7961A>G (p.Asp2654Gly) | dbSNP gnomAD v4 |
5 | g.13776453T>G | CA359207856 | DNAH5 | c.9359A>C (p.Asp3120Ala) c.9314A>C (p.Asp3105Ala) c.9467A>C (p.Asp3156Ala) c.8372A>C (p.Asp2791Ala) c.4556A>C (p.Asp1519Ala) c.4109A>C (p.Asp1370Ala) c.3446A>C (p.Asp1149Ala) c.7961A>C (p.Asp2654Ala) | |
5 | g.13776454C>A | CA359207873 | DNAH5 | c.9358G>T (p.Asp3120Tyr) c.9313G>T (p.Asp3105Tyr) c.9466G>T (p.Asp3156Tyr) c.8371G>T (p.Asp2791Tyr) c.4555G>T (p.Asp1519Tyr) c.4108G>T (p.Asp1370Tyr) c.3445G>T (p.Asp1149Tyr) c.7960G>T (p.Asp2654Tyr) | |
5 | g.13776454C>G | CA359207883 | DNAH5 | c.9358G>C (p.Asp3120His) c.9313G>C (p.Asp3105His) c.9466G>C (p.Asp3156His) c.8371G>C (p.Asp2791His) c.4555G>C (p.Asp1519His) c.4108G>C (p.Asp1370His) c.3445G>C (p.Asp1149His) c.7960G>C (p.Asp2654His) | gnomAD v4 |
5 | g.13776454C>T | CA359207886 | DNAH5 | c.9358G>A (p.Asp3120Asn) c.9313G>A (p.Asp3105Asn) c.9466G>A (p.Asp3156Asn) c.8371G>A (p.Asp2791Asn) c.4555G>A (p.Asp1519Asn) c.4108G>A (p.Asp1370Asn) c.3445G>A (p.Asp1149Asn) c.7960G>A (p.Asp2654Asn) | |
5 | g.13776455T>A | CA359207890 | DNAH5 | c.9357A>T (p.Lys3119Asn) c.9312A>T (p.Lys3104Asn) c.9465A>T (p.Lys3155Asn) c.8370A>T (p.Lys2790Asn) c.4554A>T (p.Lys1518Asn) c.4107A>T (p.Lys1369Asn) c.3444A>T (p.Lys1148Asn) c.7959A>T (p.Lys2653Asn) | |
5 | g.13776455T>C | CA443535655 | DNAH5 | c.9357A>G (p.Lys3119=) c.9312A>G (p.Lys3104=) c.9465A>G (p.Lys3155=) c.8370A>G (p.Lys2790=) c.4554A>G (p.Lys1518=) c.4107A>G (p.Lys1369=) c.3444A>G (p.Lys1148=) c.7959A>G (p.Lys2653=) | gnomAD v4 |
5 | g.13776455T>G | CA359207899 | DNAH5 | c.9357A>C (p.Lys3119Asn) c.9312A>C (p.Lys3104Asn) c.9465A>C (p.Lys3155Asn) c.8370A>C (p.Lys2790Asn) c.4554A>C (p.Lys1518Asn) c.4107A>C (p.Lys1369Asn) c.3444A>C (p.Lys1148Asn) c.7959A>C (p.Lys2653Asn) | gnomAD v4 |
5 | g.13776456T>A | CA359207900 | DNAH5 | c.9356A>T (p.Lys3119Ile) c.9311A>T (p.Lys3104Ile) c.9464A>T (p.Lys3155Ile) c.8369A>T (p.Lys2790Ile) c.4553A>T (p.Lys1518Ile) c.4106A>T (p.Lys1369Ile) c.3443A>T (p.Lys1148Ile) c.7958A>T (p.Lys2653Ile) | |
5 | g.13776456T>C | CA359207901 | DNAH5 | c.9356A>G (p.Lys3119Arg) c.9311A>G (p.Lys3104Arg) c.9464A>G (p.Lys3155Arg) c.8369A>G (p.Lys2790Arg) c.4553A>G (p.Lys1518Arg) c.4106A>G (p.Lys1369Arg) c.3443A>G (p.Lys1148Arg) c.7958A>G (p.Lys2653Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776456T>G | CA359207906 | DNAH5 | c.9356A>C (p.Lys3119Thr) c.9311A>C (p.Lys3104Thr) c.9464A>C (p.Lys3155Thr) c.8369A>C (p.Lys2790Thr) c.4553A>C (p.Lys1518Thr) c.4106A>C (p.Lys1369Thr) c.3443A>C (p.Lys1148Thr) c.7958A>C (p.Lys2653Thr) | |
5 | g.13776456T= | CA1528435030 | DNAH5 | c.9356A= (p.Lys3119=) c.9311A= (p.Lys3104=) c.9464A= (p.Lys3155=) c.8369A= (p.Lys2790=) c.4553A= (p.Lys1518=) c.4106A= (p.Lys1369=) c.3443A= (p.Lys1148=) c.7958A= (p.Lys2653=) | |
5 | g.13776457T>A | CA359207908 | DNAH5 | c.9355A>T (p.Lys3119Ter) c.9310A>T (p.Lys3104Ter) c.9463A>T (p.Lys3155Ter) c.8368A>T (p.Lys2790Ter) c.4552A>T (p.Lys1518Ter) c.4105A>T (p.Lys1369Ter) c.3442A>T (p.Lys1148Ter) c.7957A>T (p.Lys2653Ter) | |
5 | g.13776457T>C | CA203173 | DNAH5 | c.9355A>G (p.Lys3119Glu) c.9310A>G (p.Lys3104Glu) c.9463A>G (p.Lys3155Glu) c.8368A>G (p.Lys2790Glu) c.4552A>G (p.Lys1518Glu) c.4105A>G (p.Lys1369Glu) c.3442A>G (p.Lys1148Glu) c.7957A>G (p.Lys2653Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776457T>G | CA359207923 | DNAH5 | c.9355A>C (p.Lys3119Gln) c.9310A>C (p.Lys3104Gln) c.9463A>C (p.Lys3155Gln) c.8368A>C (p.Lys2790Gln) c.4552A>C (p.Lys1518Gln) c.4105A>C (p.Lys1369Gln) c.3442A>C (p.Lys1148Gln) c.7957A>C (p.Lys2653Gln) | |
5 | g.13776457T= | CA1528435035 | DNAH5 | c.9355A= (p.Lys3119=) c.9310A= (p.Lys3104=) c.9463A= (p.Lys3155=) c.8368A= (p.Lys2790=) c.4552A= (p.Lys1518=) c.4105A= (p.Lys1369=) c.3442A= (p.Lys1148=) c.7957A= (p.Lys2653=) | |
5 | g.13776458G>A | CA443535664 | DNAH5 | c.9354C>T (p.Pro3118=) c.9309C>T (p.Pro3103=) c.9462C>T (p.Pro3154=) c.8367C>T (p.Pro2789=) c.4551C>T (p.Pro1517=) c.4104C>T (p.Pro1368=) c.3441C>T (p.Pro1147=) c.7956C>T (p.Pro2652=) | |
5 | g.13776458G>C | CA443535666 | DNAH5 | c.9354C>G (p.Pro3118=) c.9309C>G (p.Pro3103=) c.9462C>G (p.Pro3154=) c.8367C>G (p.Pro2789=) c.4551C>G (p.Pro1517=) c.4104C>G (p.Pro1368=) c.3441C>G (p.Pro1147=) c.7956C>G (p.Pro2652=) | |
5 | g.13776458G>T | CA443535667 | DNAH5 | c.9354C>A (p.Pro3118=) c.9309C>A (p.Pro3103=) c.9462C>A (p.Pro3154=) c.8367C>A (p.Pro2789=) c.4551C>A (p.Pro1517=) c.4104C>A (p.Pro1368=) c.3441C>A (p.Pro1147=) c.7956C>A (p.Pro2652=) | |
5 | g.13776460dup | CA2739274613 | DNAH5 | c.9354dup (p.Lys3119GlnfsTer9) c.9309dup (p.Lys3104GlnfsTer9) c.9462dup (p.Lys3155GlnfsTer9) c.8367dup (p.Lys2790GlnfsTer9) c.4551dup (p.Lys1518GlnfsTer9) c.4104dup (p.Lys1369GlnfsTer9) c.3441dup (p.Lys1148GlnfsTer9) c.7956dup (p.Lys2653GlnfsTer9) | ClinVar |
5 | g.13776459G>A | CA359207928 | DNAH5 | c.9353C>T (p.Pro3118Leu) c.9308C>T (p.Pro3103Leu) c.9461C>T (p.Pro3154Leu) c.8366C>T (p.Pro2789Leu) c.4550C>T (p.Pro1517Leu) c.4103C>T (p.Pro1368Leu) c.3440C>T (p.Pro1147Leu) c.7955C>T (p.Pro2652Leu) | COSMIC |
5 | g.13776459G>C | CA359207929 | DNAH5 | c.9353C>G (p.Pro3118Arg) c.9308C>G (p.Pro3103Arg) c.9461C>G (p.Pro3154Arg) c.8366C>G (p.Pro2789Arg) c.4550C>G (p.Pro1517Arg) c.4103C>G (p.Pro1368Arg) c.3440C>G (p.Pro1147Arg) c.7955C>G (p.Pro2652Arg) | |
5 | g.13776459G>T | CA359207930 | DNAH5 | c.9353C>A (p.Pro3118His) c.9308C>A (p.Pro3103His) c.9461C>A (p.Pro3154His) c.8366C>A (p.Pro2789His) c.4550C>A (p.Pro1517His) c.4103C>A (p.Pro1368His) c.3440C>A (p.Pro1147His) c.7955C>A (p.Pro2652His) | gnomAD v4 |
5 | g.13776460G>A | CA359207932 | DNAH5 | c.9352C>T (p.Pro3118Ser) c.9307C>T (p.Pro3103Ser) c.9460C>T (p.Pro3154Ser) c.8365C>T (p.Pro2789Ser) c.4549C>T (p.Pro1517Ser) c.4102C>T (p.Pro1368Ser) c.3439C>T (p.Pro1147Ser) c.7954C>T (p.Pro2652Ser) | gnomAD v4 |
5 | g.13776460G>C | CA359207933 | DNAH5 | c.9352C>G (p.Pro3118Ala) c.9307C>G (p.Pro3103Ala) c.9460C>G (p.Pro3154Ala) c.8365C>G (p.Pro2789Ala) c.4549C>G (p.Pro1517Ala) c.4102C>G (p.Pro1368Ala) c.3439C>G (p.Pro1147Ala) c.7954C>G (p.Pro2652Ala) | |
5 | g.13776460G>T | CA359207931 | DNAH5 | c.9352C>A (p.Pro3118Thr) c.9307C>A (p.Pro3103Thr) c.9460C>A (p.Pro3154Thr) c.8365C>A (p.Pro2789Thr) c.4549C>A (p.Pro1517Thr) c.4102C>A (p.Pro1368Thr) c.3439C>A (p.Pro1147Thr) c.7954C>A (p.Pro2652Thr) | |
5 | g.13776461C>A | CA359207934 | DNAH5 | c.9351G>T (p.Trp3117Cys) c.9306G>T (p.Trp3102Cys) c.9459G>T (p.Trp3153Cys) c.8364G>T (p.Trp2788Cys) c.4548G>T (p.Trp1516Cys) c.4101G>T (p.Trp1367Cys) c.3438G>T (p.Trp1146Cys) c.7953G>T (p.Trp2651Cys) | |
5 | g.13776461C>G | CA359207936 | DNAH5 | c.9351G>C (p.Trp3117Cys) c.9306G>C (p.Trp3102Cys) c.9459G>C (p.Trp3153Cys) c.8364G>C (p.Trp2788Cys) c.4548G>C (p.Trp1516Cys) c.4101G>C (p.Trp1367Cys) c.3438G>C (p.Trp1146Cys) c.7953G>C (p.Trp2651Cys) | |
5 | g.13776461C>T | CA359207940 | DNAH5 | c.9351G>A (p.Trp3117Ter) c.9306G>A (p.Trp3102Ter) c.9459G>A (p.Trp3153Ter) c.8364G>A (p.Trp2788Ter) c.4548G>A (p.Trp1516Ter) c.4101G>A (p.Trp1367Ter) c.3438G>A (p.Trp1146Ter) c.7953G>A (p.Trp2651Ter) | gnomAD v4 |
5 | g.13776462C>A | CA359207943 | DNAH5 | c.9350G>T (p.Trp3117Leu) c.9305G>T (p.Trp3102Leu) c.9458G>T (p.Trp3153Leu) c.8363G>T (p.Trp2788Leu) c.4547G>T (p.Trp1516Leu) c.4100G>T (p.Trp1367Leu) c.3437G>T (p.Trp1146Leu) c.7952G>T (p.Trp2651Leu) | |
5 | g.13776462C>G | CA359207946 | DNAH5 | c.9350G>C (p.Trp3117Ser) c.9305G>C (p.Trp3102Ser) c.9458G>C (p.Trp3153Ser) c.8363G>C (p.Trp2788Ser) c.4547G>C (p.Trp1516Ser) c.4100G>C (p.Trp1367Ser) c.3437G>C (p.Trp1146Ser) c.7952G>C (p.Trp2651Ser) | |
5 | g.13776462C>T | CA359207950 | DNAH5 | c.9350G>A (p.Trp3117Ter) c.9305G>A (p.Trp3102Ter) c.9458G>A (p.Trp3153Ter) c.8363G>A (p.Trp2788Ter) c.4547G>A (p.Trp1516Ter) c.4100G>A (p.Trp1367Ter) c.3437G>A (p.Trp1146Ter) c.7952G>A (p.Trp2651Ter) | |
5 | g.13776463A= | CA1528435042 | DNAH5 | c.9349T= (p.Trp3117=) c.9304T= (p.Trp3102=) c.9457T= (p.Trp3153=) c.8362T= (p.Trp2788=) c.4546T= (p.Trp1516=) c.4099T= (p.Trp1367=) c.3436T= (p.Trp1146=) c.7951T= (p.Trp2651=) | |
5 | g.13776463A>C | CA359207952 | DNAH5 | c.9349T>G (p.Trp3117Gly) c.9304T>G (p.Trp3102Gly) c.9457T>G (p.Trp3153Gly) c.8362T>G (p.Trp2788Gly) c.4546T>G (p.Trp1516Gly) c.4099T>G (p.Trp1367Gly) c.3436T>G (p.Trp1146Gly) c.7951T>G (p.Trp2651Gly) | |
5 | g.13776463A>G | CA3202577 | DNAH5 | c.9349T>C (p.Trp3117Arg) c.9304T>C (p.Trp3102Arg) c.9457T>C (p.Trp3153Arg) c.8362T>C (p.Trp2788Arg) c.4546T>C (p.Trp1516Arg) c.4099T>C (p.Trp1367Arg) c.3436T>C (p.Trp1146Arg) c.7951T>C (p.Trp2651Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776463A>T | CA359207954 | DNAH5 | c.9349T>A (p.Trp3117Arg) c.9304T>A (p.Trp3102Arg) c.9457T>A (p.Trp3153Arg) c.8362T>A (p.Trp2788Arg) c.4546T>A (p.Trp1516Arg) c.4099T>A (p.Trp1367Arg) c.3436T>A (p.Trp1146Arg) c.7951T>A (p.Trp2651Arg) | |
5 | g.13776464T>A | CA443535675 | DNAH5 | c.9348A>T (p.Arg3116=) c.9303A>T (p.Arg3101=) c.9456A>T (p.Arg3152=) c.8361A>T (p.Arg2787=) c.4545A>T (p.Arg1515=) c.4098A>T (p.Arg1366=) c.3435A>T (p.Arg1145=) c.7950A>T (p.Arg2650=) | |
5 | g.13776464T>C | CA443535677 | DNAH5 | c.9348A>G (p.Arg3116=) c.9303A>G (p.Arg3101=) c.9456A>G (p.Arg3152=) c.8361A>G (p.Arg2787=) c.4545A>G (p.Arg1515=) c.4098A>G (p.Arg1366=) c.3435A>G (p.Arg1145=) c.7950A>G (p.Arg2650=) | |
5 | g.13776464T>G | CA443535676 | DNAH5 | c.9348A>C (p.Arg3116=) c.9303A>C (p.Arg3101=) c.9456A>C (p.Arg3152=) c.8361A>C (p.Arg2787=) c.4545A>C (p.Arg1515=) c.4098A>C (p.Arg1366=) c.3435A>C (p.Arg1145=) c.7950A>C (p.Arg2650=) | |
5 | g.13776465C>A | CA359207957 | DNAH5 | c.9347G>T (p.Arg3116Leu) c.9302G>T (p.Arg3101Leu) c.9455G>T (p.Arg3152Leu) c.8360G>T (p.Arg2787Leu) c.4544G>T (p.Arg1515Leu) c.4097G>T (p.Arg1366Leu) c.3434G>T (p.Arg1145Leu) c.7949G>T (p.Arg2650Leu) | gnomAD v4 |
5 | g.13776465C= | CA1528435050 | DNAH5 | c.9347G= (p.Arg3116=) c.9302G= (p.Arg3101=) c.9455G= (p.Arg3152=) c.8360G= (p.Arg2787=) c.4544G= (p.Arg1515=) c.4097G= (p.Arg1366=) c.3434G= (p.Arg1145=) c.7949G= (p.Arg2650=) | |
5 | g.13776465C>G | CA359207959 | DNAH5 | c.9347G>C (p.Arg3116Pro) c.9302G>C (p.Arg3101Pro) c.9455G>C (p.Arg3152Pro) c.8360G>C (p.Arg2787Pro) c.4544G>C (p.Arg1515Pro) c.4097G>C (p.Arg1366Pro) c.3434G>C (p.Arg1145Pro) c.7949G>C (p.Arg2650Pro) | |
5 | g.13776465C>T | CA3202578 | DNAH5 | c.9347G>A (p.Arg3116Gln) c.9302G>A (p.Arg3101Gln) c.9455G>A (p.Arg3152Gln) c.8360G>A (p.Arg2787Gln) c.4544G>A (p.Arg1515Gln) c.4097G>A (p.Arg1366Gln) c.3434G>A (p.Arg1145Gln) c.7949G>A (p.Arg2650Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776466G>A | CA359207968 | DNAH5 | c.9346C>T (p.Arg3116Ter) c.9301C>T (p.Arg3101Ter) c.9454C>T (p.Arg3152Ter) c.8359C>T (p.Arg2787Ter) c.4543C>T (p.Arg1515Ter) c.4096C>T (p.Arg1366Ter) c.3433C>T (p.Arg1145Ter) c.7948C>T (p.Arg2650Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13776466G>C | CA359207966 | DNAH5 | c.9346C>G (p.Arg3116Gly) c.9301C>G (p.Arg3101Gly) c.9454C>G (p.Arg3152Gly) c.8359C>G (p.Arg2787Gly) c.4543C>G (p.Arg1515Gly) c.4096C>G (p.Arg1366Gly) c.3433C>G (p.Arg1145Gly) c.7948C>G (p.Arg2650Gly) | |
5 | g.13776466G= | CA1528435057 | DNAH5 | c.9346C= (p.Arg3116=) c.9301C= (p.Arg3101=) c.9454C= (p.Arg3152=) c.8359C= (p.Arg2787=) c.4543C= (p.Arg1515=) c.4096C= (p.Arg1366=) c.3433C= (p.Arg1145=) c.7948C= (p.Arg2650=) | |
5 | g.13776466G>T | CA443535679 | DNAH5 | c.9346C>A (p.Arg3116=) c.9301C>A (p.Arg3101=) c.9454C>A (p.Arg3152=) c.8359C>A (p.Arg2787=) c.4543C>A (p.Arg1515=) c.4096C>A (p.Arg1366=) c.3433C>A (p.Arg1145=) c.7948C>A (p.Arg2650=) | |
5 | g.13776467G>A | CA443535681 | DNAH5 | c.9345C>T (p.Ser3115=) c.9300C>T (p.Ser3100=) c.9453C>T (p.Ser3151=) c.8358C>T (p.Ser2786=) c.4542C>T (p.Ser1514=) c.4095C>T (p.Ser1365=) c.3432C>T (p.Ser1144=) c.7947C>T (p.Ser2649=) | dbSNP |
5 | g.13776467G>C | CA359207971 | DNAH5 | c.9345C>G (p.Ser3115Arg) c.9300C>G (p.Ser3100Arg) c.9453C>G (p.Ser3151Arg) c.8358C>G (p.Ser2786Arg) c.4542C>G (p.Ser1514Arg) c.4095C>G (p.Ser1365Arg) c.3432C>G (p.Ser1144Arg) c.7947C>G (p.Ser2649Arg) | |
5 | g.13776467G= | CA1528435063 | DNAH5 | c.9345C= (p.Ser3115=) c.9300C= (p.Ser3100=) c.9453C= (p.Ser3151=) c.8358C= (p.Ser2786=) c.4542C= (p.Ser1514=) c.4095C= (p.Ser1365=) c.3432C= (p.Ser1144=) c.7947C= (p.Ser2649=) | |
5 | g.13776467G>T | CA359207973 | DNAH5 | c.9345C>A (p.Ser3115Arg) c.9300C>A (p.Ser3100Arg) c.9453C>A (p.Ser3151Arg) c.8358C>A (p.Ser2786Arg) c.4542C>A (p.Ser1514Arg) c.4095C>A (p.Ser1365Arg) c.3432C>A (p.Ser1144Arg) c.7947C>A (p.Ser2649Arg) | |
5 | g.13776468C>A | CA359207974 | DNAH5 | c.9344G>T (p.Ser3115Ile) c.9299G>T (p.Ser3100Ile) c.9452G>T (p.Ser3151Ile) c.8357G>T (p.Ser2786Ile) c.4541G>T (p.Ser1514Ile) c.4094G>T (p.Ser1365Ile) c.3431G>T (p.Ser1144Ile) c.7946G>T (p.Ser2649Ile) | |
5 | g.13776468C>G | CA359207975 | DNAH5 | c.9344G>C (p.Ser3115Thr) c.9299G>C (p.Ser3100Thr) c.9452G>C (p.Ser3151Thr) c.8357G>C (p.Ser2786Thr) c.4541G>C (p.Ser1514Thr) c.4094G>C (p.Ser1365Thr) c.3431G>C (p.Ser1144Thr) c.7946G>C (p.Ser2649Thr) | |
5 | g.13776468C>T | CA359207976 | DNAH5 | c.9344G>A (p.Ser3115Asn) c.9299G>A (p.Ser3100Asn) c.9452G>A (p.Ser3151Asn) c.8357G>A (p.Ser2786Asn) c.4541G>A (p.Ser1514Asn) c.4094G>A (p.Ser1365Asn) c.3431G>A (p.Ser1144Asn) c.7946G>A (p.Ser2649Asn) | |
5 | g.13776469T>A | CA359207978 | DNAH5 | c.9343A>T (p.Ser3115Cys) c.9298A>T (p.Ser3100Cys) c.9451A>T (p.Ser3151Cys) c.8356A>T (p.Ser2786Cys) c.4540A>T (p.Ser1514Cys) c.4093A>T (p.Ser1365Cys) c.3430A>T (p.Ser1144Cys) c.7945A>T (p.Ser2649Cys) | |
5 | g.13776469T>C | CA359207980 | DNAH5 | c.9343A>G (p.Ser3115Gly) c.9298A>G (p.Ser3100Gly) c.9451A>G (p.Ser3151Gly) c.8356A>G (p.Ser2786Gly) c.4540A>G (p.Ser1514Gly) c.4093A>G (p.Ser1365Gly) c.3430A>G (p.Ser1144Gly) c.7945A>G (p.Ser2649Gly) | COSMIC |
5 | g.13776469T>G | CA359207983 | DNAH5 | c.9343A>C (p.Ser3115Arg) c.9298A>C (p.Ser3100Arg) c.9451A>C (p.Ser3151Arg) c.8356A>C (p.Ser2786Arg) c.4540A>C (p.Ser1514Arg) c.4093A>C (p.Ser1365Arg) c.3430A>C (p.Ser1144Arg) c.7945A>C (p.Ser2649Arg) | |
5 | g.13776470G>A | CA443535684 | DNAH5 | c.9342C>T (p.Phe3114=) c.9297C>T (p.Phe3099=) c.9450C>T (p.Phe3150=) c.8355C>T (p.Phe2785=) c.4539C>T (p.Phe1513=) c.4092C>T (p.Phe1364=) c.3429C>T (p.Phe1143=) c.7944C>T (p.Phe2648=) | gnomAD v4 COSMIC |
5 | g.13776470G>C | CA359208013 | DNAH5 | c.9342C>G (p.Phe3114Leu) c.9297C>G (p.Phe3099Leu) c.9450C>G (p.Phe3150Leu) c.8355C>G (p.Phe2785Leu) c.4539C>G (p.Phe1513Leu) c.4092C>G (p.Phe1364Leu) c.3429C>G (p.Phe1143Leu) c.7944C>G (p.Phe2648Leu) | |
5 | g.13776470G>T | CA359208016 | DNAH5 | c.9342C>A (p.Phe3114Leu) c.9297C>A (p.Phe3099Leu) c.9450C>A (p.Phe3150Leu) c.8355C>A (p.Phe2785Leu) c.4539C>A (p.Phe1513Leu) c.4092C>A (p.Phe1364Leu) c.3429C>A (p.Phe1143Leu) c.7944C>A (p.Phe2648Leu) | |
5 | g.13776471A>C | CA359208025 | DNAH5 | c.9341T>G (p.Phe3114Cys) c.9296T>G (p.Phe3099Cys) c.9449T>G (p.Phe3150Cys) c.8354T>G (p.Phe2785Cys) c.4538T>G (p.Phe1513Cys) c.4091T>G (p.Phe1364Cys) c.3428T>G (p.Phe1143Cys) c.7943T>G (p.Phe2648Cys) | |
5 | g.13776471A>G | CA359208028 | DNAH5 | c.9341T>C (p.Phe3114Ser) c.9296T>C (p.Phe3099Ser) c.9449T>C (p.Phe3150Ser) c.8354T>C (p.Phe2785Ser) c.4538T>C (p.Phe1513Ser) c.4091T>C (p.Phe1364Ser) c.3428T>C (p.Phe1143Ser) c.7943T>C (p.Phe2648Ser) | |
5 | g.13776471A>T | CA359208032 | DNAH5 | c.9341T>A (p.Phe3114Tyr) c.9296T>A (p.Phe3099Tyr) c.9449T>A (p.Phe3150Tyr) c.8354T>A (p.Phe2785Tyr) c.4538T>A (p.Phe1513Tyr) c.4091T>A (p.Phe1364Tyr) c.3428T>A (p.Phe1143Tyr) c.7943T>A (p.Phe2648Tyr) | |
5 | g.13776472A>C | CA359208051 | DNAH5 | c.9340T>G (p.Phe3114Val) c.9295T>G (p.Phe3099Val) c.9448T>G (p.Phe3150Val) c.8353T>G (p.Phe2785Val) c.4537T>G (p.Phe1513Val) c.4090T>G (p.Phe1364Val) c.3427T>G (p.Phe1143Val) c.7942T>G (p.Phe2648Val) | |
5 | g.13776472A>G | CA359208057 | DNAH5 | c.9340T>C (p.Phe3114Leu) c.9295T>C (p.Phe3099Leu) c.9448T>C (p.Phe3150Leu) c.8353T>C (p.Phe2785Leu) c.4537T>C (p.Phe1513Leu) c.4090T>C (p.Phe1364Leu) c.3427T>C (p.Phe1143Leu) c.7942T>C (p.Phe2648Leu) | |
5 | g.13776472A>T | CA359208047 | DNAH5 | c.9340T>A (p.Phe3114Ile) c.9295T>A (p.Phe3099Ile) c.9448T>A (p.Phe3150Ile) c.8353T>A (p.Phe2785Ile) c.4537T>A (p.Phe1513Ile) c.4090T>A (p.Phe1364Ile) c.3427T>A (p.Phe1143Ile) c.7942T>A (p.Phe2648Ile) | |
5 | g.13776473C>A | CA359208064 | DNAH5 | c.9339G>T (p.Trp3113Cys) c.9294G>T (p.Trp3098Cys) c.9447G>T (p.Trp3149Cys) c.8352G>T (p.Trp2784Cys) c.4536G>T (p.Trp1512Cys) c.4089G>T (p.Trp1363Cys) c.3426G>T (p.Trp1142Cys) c.7941G>T (p.Trp2647Cys) | |
5 | g.13776473C= | CA1528435067 | DNAH5 | c.9339G= (p.Trp3113=) c.9294G= (p.Trp3098=) c.9447G= (p.Trp3149=) c.8352G= (p.Trp2784=) c.4536G= (p.Trp1512=) c.4089G= (p.Trp1363=) c.3426G= (p.Trp1142=) c.7941G= (p.Trp2647=) | |
5 | g.13776473C>G | CA3202579 | DNAH5 | c.9339G>C (p.Trp3113Cys) c.9294G>C (p.Trp3098Cys) c.9447G>C (p.Trp3149Cys) c.8352G>C (p.Trp2784Cys) c.4536G>C (p.Trp1512Cys) c.4089G>C (p.Trp1363Cys) c.3426G>C (p.Trp1142Cys) c.7941G>C (p.Trp2647Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776473C>T | CA359208066 | DNAH5 | c.9339G>A (p.Trp3113Ter) c.9294G>A (p.Trp3098Ter) c.9447G>A (p.Trp3149Ter) c.8352G>A (p.Trp2784Ter) c.4536G>A (p.Trp1512Ter) c.4089G>A (p.Trp1363Ter) c.3426G>A (p.Trp1142Ter) c.7941G>A (p.Trp2647Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776474C>A | CA359208070 | DNAH5 | c.9338G>T (p.Trp3113Leu) c.9293G>T (p.Trp3098Leu) c.9446G>T (p.Trp3149Leu) c.8351G>T (p.Trp2784Leu) c.4535G>T (p.Trp1512Leu) c.4088G>T (p.Trp1363Leu) c.3425G>T (p.Trp1142Leu) c.7940G>T (p.Trp2647Leu) | |
5 | g.13776474C>G | CA359208073 | DNAH5 | c.9338G>C (p.Trp3113Ser) c.9293G>C (p.Trp3098Ser) c.9446G>C (p.Trp3149Ser) c.8351G>C (p.Trp2784Ser) c.4535G>C (p.Trp1512Ser) c.4088G>C (p.Trp1363Ser) c.3425G>C (p.Trp1142Ser) c.7940G>C (p.Trp2647Ser) | |
5 | g.13776474C>T | CA359208077 | DNAH5 | c.9338G>A (p.Trp3113Ter) c.9293G>A (p.Trp3098Ter) c.9446G>A (p.Trp3149Ter) c.8351G>A (p.Trp2784Ter) c.4535G>A (p.Trp1512Ter) c.4088G>A (p.Trp1363Ter) c.3425G>A (p.Trp1142Ter) c.7940G>A (p.Trp2647Ter) | |
5 | g.13776475A>C | CA359208078 | DNAH5 | c.9337T>G (p.Trp3113Gly) c.9292T>G (p.Trp3098Gly) c.9445T>G (p.Trp3149Gly) c.8350T>G (p.Trp2784Gly) c.4534T>G (p.Trp1512Gly) c.4087T>G (p.Trp1363Gly) c.3424T>G (p.Trp1142Gly) c.7939T>G (p.Trp2647Gly) | |
5 | g.13776475A>G | CA359208082 | DNAH5 | c.9337T>C (p.Trp3113Arg) c.9292T>C (p.Trp3098Arg) c.9445T>C (p.Trp3149Arg) c.8350T>C (p.Trp2784Arg) c.4534T>C (p.Trp1512Arg) c.4087T>C (p.Trp1363Arg) c.3424T>C (p.Trp1142Arg) c.7939T>C (p.Trp2647Arg) | |
5 | g.13776475A>T | CA359208089 | DNAH5 | c.9337T>A (p.Trp3113Arg) c.9292T>A (p.Trp3098Arg) c.9445T>A (p.Trp3149Arg) c.8350T>A (p.Trp2784Arg) c.4534T>A (p.Trp1512Arg) c.4087T>A (p.Trp1363Arg) c.3424T>A (p.Trp1142Arg) c.7939T>A (p.Trp2647Arg) | |
5 | g.13776476G>A | CA443535695 | DNAH5 | c.9336C>T (p.Asp3112=) c.9291C>T (p.Asp3097=) c.9444C>T (p.Asp3148=) c.8349C>T (p.Asp2783=) c.4533C>T (p.Asp1511=) c.4086C>T (p.Asp1362=) c.3423C>T (p.Asp1141=) c.7938C>T (p.Asp2646=) | |
5 | g.13776476G>C | CA359208094 | DNAH5 | c.9336C>G (p.Asp3112Glu) c.9291C>G (p.Asp3097Glu) c.9444C>G (p.Asp3148Glu) c.8349C>G (p.Asp2783Glu) c.4533C>G (p.Asp1511Glu) c.4086C>G (p.Asp1362Glu) c.3423C>G (p.Asp1141Glu) c.7938C>G (p.Asp2646Glu) | |
5 | g.13776476G>T | CA359208095 | DNAH5 | c.9336C>A (p.Asp3112Glu) c.9291C>A (p.Asp3097Glu) c.9444C>A (p.Asp3148Glu) c.8349C>A (p.Asp2783Glu) c.4533C>A (p.Asp1511Glu) c.4086C>A (p.Asp1362Glu) c.3423C>A (p.Asp1141Glu) c.7938C>A (p.Asp2646Glu) | |
5 | g.13776477T>A | CA359208098 | DNAH5 | c.9335A>T (p.Asp3112Val) c.9290A>T (p.Asp3097Val) c.9443A>T (p.Asp3148Val) c.8348A>T (p.Asp2783Val) c.4532A>T (p.Asp1511Val) c.4085A>T (p.Asp1362Val) c.3422A>T (p.Asp1141Val) c.7937A>T (p.Asp2646Val) | |
5 | g.13776477T>C | CA359208100 | DNAH5 | c.9335A>G (p.Asp3112Gly) c.9290A>G (p.Asp3097Gly) c.9443A>G (p.Asp3148Gly) c.8348A>G (p.Asp2783Gly) c.4532A>G (p.Asp1511Gly) c.4085A>G (p.Asp1362Gly) c.3422A>G (p.Asp1141Gly) c.7937A>G (p.Asp2646Gly) | |
5 | g.13776477T>G | CA359208101 | DNAH5 | c.9335A>C (p.Asp3112Ala) c.9290A>C (p.Asp3097Ala) c.9443A>C (p.Asp3148Ala) c.8348A>C (p.Asp2783Ala) c.4532A>C (p.Asp1511Ala) c.4085A>C (p.Asp1362Ala) c.3422A>C (p.Asp1141Ala) c.7937A>C (p.Asp2646Ala) | |
5 | g.13776478C>A | CA359208108 | DNAH5 | c.9334G>T (p.Asp3112Tyr) c.9289G>T (p.Asp3097Tyr) c.9442G>T (p.Asp3148Tyr) c.8347G>T (p.Asp2783Tyr) c.4531G>T (p.Asp1511Tyr) c.4084G>T (p.Asp1362Tyr) c.3421G>T (p.Asp1141Tyr) c.7936G>T (p.Asp2646Tyr) | gnomAD v4 |
5 | g.13776478C>G | CA359208105 | DNAH5 | c.9334G>C (p.Asp3112His) c.9289G>C (p.Asp3097His) c.9442G>C (p.Asp3148His) c.8347G>C (p.Asp2783His) c.4531G>C (p.Asp1511His) c.4084G>C (p.Asp1362His) c.3421G>C (p.Asp1141His) c.7936G>C (p.Asp2646His) | gnomAD v4 |
5 | g.13776478C>T | CA359208103 | DNAH5 | c.9334G>A (p.Asp3112Asn) c.9289G>A (p.Asp3097Asn) c.9442G>A (p.Asp3148Asn) c.8347G>A (p.Asp2783Asn) c.4531G>A (p.Asp1511Asn) c.4084G>A (p.Asp1362Asn) c.3421G>A (p.Asp1141Asn) c.7936G>A (p.Asp2646Asn) | |
5 | g.13776479A>C | CA359208111 | DNAH5 | c.9333T>G (p.Ile3111Met) c.9288T>G (p.Ile3096Met) c.9441T>G (p.Ile3147Met) c.8346T>G (p.Ile2782Met) c.4530T>G (p.Ile1510Met) c.4083T>G (p.Ile1361Met) c.3420T>G (p.Ile1140Met) c.7935T>G (p.Ile2645Met) | |
5 | g.13776479A>G | CA443535698 | DNAH5 | c.9333T>C (p.Ile3111=) c.9288T>C (p.Ile3096=) c.9441T>C (p.Ile3147=) c.8346T>C (p.Ile2782=) c.4530T>C (p.Ile1510=) c.4083T>C (p.Ile1361=) c.3420T>C (p.Ile1140=) c.7935T>C (p.Ile2645=) | |
5 | g.13776479A>T | CA443535699 | DNAH5 | c.9333T>A (p.Ile3111=) c.9288T>A (p.Ile3096=) c.9441T>A (p.Ile3147=) c.8346T>A (p.Ile2782=) c.4530T>A (p.Ile1510=) c.4083T>A (p.Ile1361=) c.3420T>A (p.Ile1140=) c.7935T>A (p.Ile2645=) | |
5 | g.13776480A= | CA1528435071 | DNAH5 | c.9332T= (p.Ile3111=) c.9287T= (p.Ile3096=) c.9440T= (p.Ile3147=) c.8345T= (p.Ile2782=) c.4529T= (p.Ile1510=) c.4082T= (p.Ile1361=) c.3419T= (p.Ile1140=) c.7934T= (p.Ile2645=) | |
5 | g.13776480A>C | CA359208117 | DNAH5 | c.9332T>G (p.Ile3111Ser) c.9287T>G (p.Ile3096Ser) c.9440T>G (p.Ile3147Ser) c.8345T>G (p.Ile2782Ser) c.4529T>G (p.Ile1510Ser) c.4082T>G (p.Ile1361Ser) c.3419T>G (p.Ile1140Ser) c.7934T>G (p.Ile2645Ser) | |
5 | g.13776480A>G | CA3202580 | DNAH5 | c.9332T>C (p.Ile3111Thr) c.9287T>C (p.Ile3096Thr) c.9440T>C (p.Ile3147Thr) c.8345T>C (p.Ile2782Thr) c.4529T>C (p.Ile1510Thr) c.4082T>C (p.Ile1361Thr) c.3419T>C (p.Ile1140Thr) c.7934T>C (p.Ile2645Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13776480A>T | CA359208129 | DNAH5 | c.9332T>A (p.Ile3111Asn) c.9287T>A (p.Ile3096Asn) c.9440T>A (p.Ile3147Asn) c.8345T>A (p.Ile2782Asn) c.4529T>A (p.Ile1510Asn) c.4082T>A (p.Ile1361Asn) c.3419T>A (p.Ile1140Asn) c.7934T>A (p.Ile2645Asn) | |
5 | g.13776481T>A | CA359208130 | DNAH5 | c.9331A>T (p.Ile3111Phe) c.9286A>T (p.Ile3096Phe) c.9439A>T (p.Ile3147Phe) c.8344A>T (p.Ile2782Phe) c.4528A>T (p.Ile1510Phe) c.4081A>T (p.Ile1361Phe) c.3418A>T (p.Ile1140Phe) c.7933A>T (p.Ile2645Phe) | |
5 | g.13776481T>C | CA359208131 | DNAH5 | c.9331A>G (p.Ile3111Val) c.9286A>G (p.Ile3096Val) c.9439A>G (p.Ile3147Val) c.8344A>G (p.Ile2782Val) c.4528A>G (p.Ile1510Val) c.4081A>G (p.Ile1361Val) c.3418A>G (p.Ile1140Val) c.7933A>G (p.Ile2645Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13776481T>G | CA359208132 | DNAH5 | c.9331A>C (p.Ile3111Leu) c.9286A>C (p.Ile3096Leu) c.9439A>C (p.Ile3147Leu) c.8344A>C (p.Ile2782Leu) c.4528A>C (p.Ile1510Leu) c.4081A>C (p.Ile1361Leu) c.3418A>C (p.Ile1140Leu) c.7933A>C (p.Ile2645Leu) | |
5 | g.13776481T= | CA1528435077 | DNAH5 | c.9331A= (p.Ile3111=) c.9286A= (p.Ile3096=) c.9439A= (p.Ile3147=) c.8344A= (p.Ile2782=) c.4528A= (p.Ile1510=) c.4081A= (p.Ile1361=) c.3418A= (p.Ile1140=) c.7933A= (p.Ile2645=) | |
5 | g.13776482T>A | CA443535704 | DNAH5 | c.9330A>T (p.Thr3110=) c.9285A>T (p.Thr3095=) c.9438A>T (p.Thr3146=) c.8343A>T (p.Thr2781=) c.4527A>T (p.Thr1509=) c.4080A>T (p.Thr1360=) c.3417A>T (p.Thr1139=) c.7932A>T (p.Thr2644=) | ClinVar |
5 | g.13776482T>C | CA443535705 | DNAH5 | c.9330A>G (p.Thr3110=) c.9285A>G (p.Thr3095=) c.9438A>G (p.Thr3146=) c.8343A>G (p.Thr2781=) c.4527A>G (p.Thr1509=) c.4080A>G (p.Thr1360=) c.3417A>G (p.Thr1139=) c.7932A>G (p.Thr2644=) | |
5 | g.13776482T>G | CA443535706 | DNAH5 | c.9330A>C (p.Thr3110=) c.9285A>C (p.Thr3095=) c.9438A>C (p.Thr3146=) c.8343A>C (p.Thr2781=) c.4527A>C (p.Thr1509=) c.4080A>C (p.Thr1360=) c.3417A>C (p.Thr1139=) c.7932A>C (p.Thr2644=) | |
5 | g.13776483G>A | CA359208133 | DNAH5 | c.9329C>T (p.Thr3110Ile) c.9284C>T (p.Thr3095Ile) c.9437C>T (p.Thr3146Ile) c.8342C>T (p.Thr2781Ile) c.4526C>T (p.Thr1509Ile) c.4079C>T (p.Thr1360Ile) c.3416C>T (p.Thr1139Ile) c.7931C>T (p.Thr2644Ile) | |
5 | g.13776483G>C | CA359208135 | DNAH5 | c.9329C>G (p.Thr3110Arg) c.9284C>G (p.Thr3095Arg) c.9437C>G (p.Thr3146Arg) c.8342C>G (p.Thr2781Arg) c.4526C>G (p.Thr1509Arg) c.4079C>G (p.Thr1360Arg) c.3416C>G (p.Thr1139Arg) c.7931C>G (p.Thr2644Arg) | |
5 | g.13776483G>T | CA359208138 | DNAH5 | c.9329C>A (p.Thr3110Lys) c.9284C>A (p.Thr3095Lys) c.9437C>A (p.Thr3146Lys) c.8342C>A (p.Thr2781Lys) c.4526C>A (p.Thr1509Lys) c.4079C>A (p.Thr1360Lys) c.3416C>A (p.Thr1139Lys) c.7931C>A (p.Thr2644Lys) | |
5 | g.13776484T>A | CA359208141 | DNAH5 | c.9328A>T (p.Thr3110Ser) c.9283A>T (p.Thr3095Ser) c.9436A>T (p.Thr3146Ser) c.8341A>T (p.Thr2781Ser) c.4525A>T (p.Thr1509Ser) c.4078A>T (p.Thr1360Ser) c.3415A>T (p.Thr1139Ser) c.7930A>T (p.Thr2644Ser) | |
5 | g.13776484T>C | CA359208145 | DNAH5 | c.9328A>G (p.Thr3110Ala) c.9283A>G (p.Thr3095Ala) c.9436A>G (p.Thr3146Ala) c.8341A>G (p.Thr2781Ala) c.4525A>G (p.Thr1509Ala) c.4078A>G (p.Thr1360Ala) c.3415A>G (p.Thr1139Ala) c.7930A>G (p.Thr2644Ala) | gnomAD v4 |
5 | g.13776484T>G | CA359208148 | DNAH5 | c.9328A>C (p.Thr3110Pro) c.9283A>C (p.Thr3095Pro) c.9436A>C (p.Thr3146Pro) c.8341A>C (p.Thr2781Pro) c.4525A>C (p.Thr1509Pro) c.4078A>C (p.Thr1360Pro) c.3415A>C (p.Thr1139Pro) c.7930A>C (p.Thr2644Pro) | |
5 | g.13776485G>A | CA443535708 | DNAH5 | c.9327C>T (p.Cys3109=) c.9282C>T (p.Cys3094=) c.9435C>T (p.Cys3145=) c.8340C>T (p.Cys2780=) c.4524C>T (p.Cys1508=) c.4077C>T (p.Cys1359=) c.3414C>T (p.Cys1138=) c.7929C>T (p.Cys2643=) | |
5 | g.13776485G>C | CA359208155 | DNAH5 | c.9327C>G (p.Cys3109Trp) c.9282C>G (p.Cys3094Trp) c.9435C>G (p.Cys3145Trp) c.8340C>G (p.Cys2780Trp) c.4524C>G (p.Cys1508Trp) c.4077C>G (p.Cys1359Trp) c.3414C>G (p.Cys1138Trp) c.7929C>G (p.Cys2643Trp) | |
5 | g.13776485G>T | CA359208152 | DNAH5 | c.9327C>A (p.Cys3109Ter) c.9282C>A (p.Cys3094Ter) c.9435C>A (p.Cys3145Ter) c.8340C>A (p.Cys2780Ter) c.4524C>A (p.Cys1508Ter) c.4077C>A (p.Cys1359Ter) c.3414C>A (p.Cys1138Ter) c.7929C>A (p.Cys2643Ter) | |
5 | g.13776486C>A | CA359208158 | DNAH5 | c.9326G>T (p.Cys3109Phe) c.9281G>T (p.Cys3094Phe) c.9434G>T (p.Cys3145Phe) c.8339G>T (p.Cys2780Phe) c.4523G>T (p.Cys1508Phe) c.4076G>T (p.Cys1359Phe) c.3413G>T (p.Cys1138Phe) c.7928G>T (p.Cys2643Phe) | |
5 | g.13776486C>G | CA359208161 | DNAH5 | c.9326G>C (p.Cys3109Ser) c.9281G>C (p.Cys3094Ser) c.9434G>C (p.Cys3145Ser) c.8339G>C (p.Cys2780Ser) c.4523G>C (p.Cys1508Ser) c.4076G>C (p.Cys1359Ser) c.3413G>C (p.Cys1138Ser) c.7928G>C (p.Cys2643Ser) | |
5 | g.13776486C>T | CA359208163 | DNAH5 | c.9326G>A (p.Cys3109Tyr) c.9281G>A (p.Cys3094Tyr) c.9434G>A (p.Cys3145Tyr) c.8339G>A (p.Cys2780Tyr) c.4523G>A (p.Cys1508Tyr) c.4076G>A (p.Cys1359Tyr) c.3413G>A (p.Cys1138Tyr) c.7928G>A (p.Cys2643Tyr) | |
5 | g.13776487A>C | CA359208166 | DNAH5 | c.9325T>G (p.Cys3109Gly) c.9280T>G (p.Cys3094Gly) c.9433T>G (p.Cys3145Gly) c.8338T>G (p.Cys2780Gly) c.4522T>G (p.Cys1508Gly) c.4075T>G (p.Cys1359Gly) c.3412T>G (p.Cys1138Gly) c.7927T>G (p.Cys2643Gly) | |
5 | g.13776487A>G | CA359208170 | DNAH5 | c.9325T>C (p.Cys3109Arg) c.9280T>C (p.Cys3094Arg) c.9433T>C (p.Cys3145Arg) c.8338T>C (p.Cys2780Arg) c.4522T>C (p.Cys1508Arg) c.4075T>C (p.Cys1359Arg) c.3412T>C (p.Cys1138Arg) c.7927T>C (p.Cys2643Arg) | |
5 | g.13776487A>T | CA359208175 | DNAH5 | c.9325T>A (p.Cys3109Ser) c.9280T>A (p.Cys3094Ser) c.9433T>A (p.Cys3145Ser) c.8338T>A (p.Cys2780Ser) c.4522T>A (p.Cys1508Ser) c.4075T>A (p.Cys1359Ser) c.3412T>A (p.Cys1138Ser) c.7927T>A (p.Cys2643Ser) | |
5 | g.13776488T>A | CA443535717 | DNAH5 | c.9324A>T (p.Gly3108=) c.9279A>T (p.Gly3093=) c.9432A>T (p.Gly3144=) c.8337A>T (p.Gly2779=) c.4521A>T (p.Gly1507=) c.4074A>T (p.Gly1358=) c.3411A>T (p.Gly1137=) c.7926A>T (p.Gly2642=) | gnomAD v4 |
5 | g.13776488T>C | CA443535714 | DNAH5 | c.9324A>G (p.Gly3108=) c.9279A>G (p.Gly3093=) c.9432A>G (p.Gly3144=) c.8337A>G (p.Gly2779=) c.4521A>G (p.Gly1507=) c.4074A>G (p.Gly1358=) c.3411A>G (p.Gly1137=) c.7926A>G (p.Gly2642=) | |
5 | g.13776488T>G | CA443535712 | DNAH5 | c.9324A>C (p.Gly3108=) c.9279A>C (p.Gly3093=) c.9432A>C (p.Gly3144=) c.8337A>C (p.Gly2779=) c.4521A>C (p.Gly1507=) c.4074A>C (p.Gly1358=) c.3411A>C (p.Gly1137=) c.7926A>C (p.Gly2642=) | |
5 | g.13776489C>A | CA359208179 | DNAH5 | c.9323G>T (p.Gly3108Val) c.9278G>T (p.Gly3093Val) c.9431G>T (p.Gly3144Val) c.8336G>T (p.Gly2779Val) c.4520G>T (p.Gly1507Val) c.4073G>T (p.Gly1358Val) c.3410G>T (p.Gly1137Val) c.7925G>T (p.Gly2642Val) | |
5 | g.13776489C= | CA1528435080 | DNAH5 | c.9323G= (p.Gly3108=) c.9278G= (p.Gly3093=) c.9431G= (p.Gly3144=) c.8336G= (p.Gly2779=) c.4520G= (p.Gly1507=) c.4073G= (p.Gly1358=) c.3410G= (p.Gly1137=) c.7925G= (p.Gly2642=) | |
5 | g.13776489C>G | CA359208183 | DNAH5 | c.9323G>C (p.Gly3108Ala) c.9278G>C (p.Gly3093Ala) c.9431G>C (p.Gly3144Ala) c.8336G>C (p.Gly2779Ala) c.4520G>C (p.Gly1507Ala) c.4073G>C (p.Gly1358Ala) c.3410G>C (p.Gly1137Ala) c.7925G>C (p.Gly2642Ala) | COSMIC |
5 | g.13776489C>T | CA113937631 | DNAH5 | c.9323G>A (p.Gly3108Glu) c.9278G>A (p.Gly3093Glu) c.9431G>A (p.Gly3144Glu) c.8336G>A (p.Gly2779Glu) c.4520G>A (p.Gly1507Glu) c.4073G>A (p.Gly1358Glu) c.3410G>A (p.Gly1137Glu) c.7925G>A (p.Gly2642Glu) | dbSNP COSMIC |
5 | g.13776490C>A | CA359208187 | DNAH5 | c.9322G>T (p.Gly3108Ter) c.9277G>T (p.Gly3093Ter) c.9430G>T (p.Gly3144Ter) c.8335G>T (p.Gly2779Ter) c.4519G>T (p.Gly1507Ter) c.4072G>T (p.Gly1358Ter) c.3409G>T (p.Gly1137Ter) c.7924G>T (p.Gly2642Ter) | |
5 | g.13776490C= | CA1528435082 | DNAH5 | c.9322G= (p.Gly3108=) c.9277G= (p.Gly3093=) c.9430G= (p.Gly3144=) c.8335G= (p.Gly2779=) c.4519G= (p.Gly1507=) c.4072G= (p.Gly1358=) c.3409G= (p.Gly1137=) c.7924G= (p.Gly2642=) | |
5 | g.13776490C>G | CA3202581 | DNAH5 | c.9322G>C (p.Gly3108Arg) c.9277G>C (p.Gly3093Arg) c.9430G>C (p.Gly3144Arg) c.8335G>C (p.Gly2779Arg) c.4519G>C (p.Gly1507Arg) c.4072G>C (p.Gly1358Arg) c.3409G>C (p.Gly1137Arg) c.7924G>C (p.Gly2642Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776490C>T | CA359208188 | DNAH5 | c.9322G>A (p.Gly3108Arg) c.9277G>A (p.Gly3093Arg) c.9430G>A (p.Gly3144Arg) c.8335G>A (p.Gly2779Arg) c.4519G>A (p.Gly1507Arg) c.4072G>A (p.Gly1358Arg) c.3409G>A (p.Gly1137Arg) c.7924G>A (p.Gly2642Arg) | COSMIC |
5 | g.13776491T>A | CA443535725 | DNAH5 | c.9321A>T (p.Ser3107=) c.9276A>T (p.Ser3092=) c.9429A>T (p.Ser3143=) c.8334A>T (p.Ser2778=) c.4518A>T (p.Ser1506=) c.4071A>T (p.Ser1357=) c.3408A>T (p.Ser1136=) c.7923A>T (p.Ser2641=) | |
5 | g.13776491T>C | CA3202582 | DNAH5 | c.9321A>G (p.Ser3107=) c.9276A>G (p.Ser3092=) c.9429A>G (p.Ser3143=) c.8334A>G (p.Ser2778=) c.4518A>G (p.Ser1506=) c.4071A>G (p.Ser1357=) c.3408A>G (p.Ser1136=) c.7923A>G (p.Ser2641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13776491T>G | CA443535729 | DNAH5 | c.9321A>C (p.Ser3107=) c.9276A>C (p.Ser3092=) c.9429A>C (p.Ser3143=) c.8334A>C (p.Ser2778=) c.4518A>C (p.Ser1506=) c.4071A>C (p.Ser1357=) c.3408A>C (p.Ser1136=) c.7923A>C (p.Ser2641=) | |
5 | g.13776491T= | CA1528435086 | DNAH5 | c.9321A= (p.Ser3107=) c.9276A= (p.Ser3092=) c.9429A= (p.Ser3143=) c.8334A= (p.Ser2778=) c.4518A= (p.Ser1506=) c.4071A= (p.Ser1357=) c.3408A= (p.Ser1136=) c.7923A= (p.Ser2641=) | |
5 | g.13776492G>A | CA359208200 | DNAH5 | c.9320C>T (p.Ser3107Leu) c.9275C>T (p.Ser3092Leu) c.9428C>T (p.Ser3143Leu) c.8333C>T (p.Ser2778Leu) c.4517C>T (p.Ser1506Leu) c.4070C>T (p.Ser1357Leu) c.3407C>T (p.Ser1136Leu) c.7922C>T (p.Ser2641Leu) | |
5 | g.13776492G>C | CA359208193 | DNAH5 | c.9320C>G (p.Ser3107Ter) c.9275C>G (p.Ser3092Ter) c.9428C>G (p.Ser3143Ter) c.8333C>G (p.Ser2778Ter) c.4517C>G (p.Ser1506Ter) c.4070C>G (p.Ser1357Ter) c.3407C>G (p.Ser1136Ter) c.7922C>G (p.Ser2641Ter) | |
5 | g.13776492G>T | CA359208197 | DNAH5 | c.9320C>A (p.Ser3107Ter) c.9275C>A (p.Ser3092Ter) c.9428C>A (p.Ser3143Ter) c.8333C>A (p.Ser2778Ter) c.4517C>A (p.Ser1506Ter) c.4070C>A (p.Ser1357Ter) c.3407C>A (p.Ser1136Ter) c.7922C>A (p.Ser2641Ter) | |
5 | g.13776493A>C | CA359208203 | DNAH5 | c.9319T>G (p.Ser3107Ala) c.9274T>G (p.Ser3092Ala) c.9427T>G (p.Ser3143Ala) c.8332T>G (p.Ser2778Ala) c.4516T>G (p.Ser1506Ala) c.4069T>G (p.Ser1357Ala) c.3406T>G (p.Ser1136Ala) c.7921T>G (p.Ser2641Ala) | |
5 | g.13776493A>G | CA359208204 | DNAH5 | c.9319T>C (p.Ser3107Pro) c.9274T>C (p.Ser3092Pro) c.9427T>C (p.Ser3143Pro) c.8332T>C (p.Ser2778Pro) c.4516T>C (p.Ser1506Pro) c.4069T>C (p.Ser1357Pro) c.3406T>C (p.Ser1136Pro) c.7921T>C (p.Ser2641Pro) | |
5 | g.13776493A>T | CA359208205 | DNAH5 | c.9319T>A (p.Ser3107Thr) c.9274T>A (p.Ser3092Thr) c.9427T>A (p.Ser3143Thr) c.8332T>A (p.Ser2778Thr) c.4516T>A (p.Ser1506Thr) c.4069T>A (p.Ser1357Thr) c.3406T>A (p.Ser1136Thr) c.7921T>A (p.Ser2641Thr) | |
5 | g.13776494A>C | CA359208206 | DNAH5 | c.9318T>G (p.Ile3106Met) c.9273T>G (p.Ile3091Met) c.9426T>G (p.Ile3142Met) c.8331T>G (p.Ile2777Met) c.4515T>G (p.Ile1505Met) c.4068T>G (p.Ile1356Met) c.3405T>G (p.Ile1135Met) c.7920T>G (p.Ile2640Met) | |
5 | g.13776494A>G | CA443535739 | DNAH5 | c.9318T>C (p.Ile3106=) c.9273T>C (p.Ile3091=) c.9426T>C (p.Ile3142=) c.8331T>C (p.Ile2777=) c.4515T>C (p.Ile1505=) c.4068T>C (p.Ile1356=) c.3405T>C (p.Ile1135=) c.7920T>C (p.Ile2640=) | gnomAD v4 |
5 | g.13776494A>T | CA443535740 | DNAH5 | c.9318T>A (p.Ile3106=) c.9273T>A (p.Ile3091=) c.9426T>A (p.Ile3142=) c.8331T>A (p.Ile2777=) c.4515T>A (p.Ile1505=) c.4068T>A (p.Ile1356=) c.3405T>A (p.Ile1135=) c.7920T>A (p.Ile2640=) | |
5 | g.13776495A= | CA1528435089 | DNAH5 | c.9317T= (p.Ile3106=) c.9272T= (p.Ile3091=) c.9425T= (p.Ile3142=) c.8330T= (p.Ile2777=) c.4514T= (p.Ile1505=) c.4067T= (p.Ile1356=) c.3404T= (p.Ile1135=) c.7919T= (p.Ile2640=) | |
5 | g.13776495A>C | CA359208207 | DNAH5 | c.9317T>G (p.Ile3106Ser) c.9272T>G (p.Ile3091Ser) c.9425T>G (p.Ile3142Ser) c.8330T>G (p.Ile2777Ser) c.4514T>G (p.Ile1505Ser) c.4067T>G (p.Ile1356Ser) c.3404T>G (p.Ile1135Ser) c.7919T>G (p.Ile2640Ser) | |
5 | g.13776495A>G | CA113937653 | DNAH5 | c.9317T>C (p.Ile3106Thr) c.9272T>C (p.Ile3091Thr) c.9425T>C (p.Ile3142Thr) c.8330T>C (p.Ile2777Thr) c.4514T>C (p.Ile1505Thr) c.4067T>C (p.Ile1356Thr) c.3404T>C (p.Ile1135Thr) c.7919T>C (p.Ile2640Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13776495A>T | CA359208208 | DNAH5 | c.9317T>A (p.Ile3106Asn) c.9272T>A (p.Ile3091Asn) c.9425T>A (p.Ile3142Asn) c.8330T>A (p.Ile2777Asn) c.4514T>A (p.Ile1505Asn) c.4067T>A (p.Ile1356Asn) c.3404T>A (p.Ile1135Asn) c.7919T>A (p.Ile2640Asn) | |
5 | g.13776496T>A | CA359208210 | DNAH5 | c.9316A>T (p.Ile3106Phe) c.9271A>T (p.Ile3091Phe) c.9424A>T (p.Ile3142Phe) c.8329A>T (p.Ile2777Phe) c.4513A>T (p.Ile1505Phe) c.4066A>T (p.Ile1356Phe) c.3403A>T (p.Ile1135Phe) c.7918A>T (p.Ile2640Phe) | |
5 | g.13776496T>C | CA359208212 | DNAH5 | c.9316A>G (p.Ile3106Val) c.9271A>G (p.Ile3091Val) c.9424A>G (p.Ile3142Val) c.8329A>G (p.Ile2777Val) c.4513A>G (p.Ile1505Val) c.4066A>G (p.Ile1356Val) c.3403A>G (p.Ile1135Val) c.7918A>G (p.Ile2640Val) | dbSNP gnomAD v4 |
5 | g.13776496T>G | CA359208214 | DNAH5 | c.9316A>C (p.Ile3106Leu) c.9271A>C (p.Ile3091Leu) c.9424A>C (p.Ile3142Leu) c.8329A>C (p.Ile2777Leu) c.4513A>C (p.Ile1505Leu) c.4066A>C (p.Ile1356Leu) c.3403A>C (p.Ile1135Leu) c.7918A>C (p.Ile2640Leu) | |
5 | g.13776496T= | CA1528435094 | DNAH5 | c.9316A= (p.Ile3106=) c.9271A= (p.Ile3091=) c.9424A= (p.Ile3142=) c.8329A= (p.Ile2777=) c.4513A= (p.Ile1505=) c.4066A= (p.Ile1356=) c.3403A= (p.Ile1135=) c.7918A= (p.Ile2640=) | |
5 | g.13776497T>A | CA443535747 | DNAH5 | c.9315A>T (p.Leu3105=) c.9270A>T (p.Leu3090=) c.9423A>T (p.Leu3141=) c.8328A>T (p.Leu2776=) c.4512A>T (p.Leu1504=) c.4065A>T (p.Leu1355=) c.3402A>T (p.Leu1134=) c.7917A>T (p.Leu2639=) | |
5 | g.13776497T>C | CA443535748 | DNAH5 | c.9315A>G (p.Leu3105=) c.9270A>G (p.Leu3090=) c.9423A>G (p.Leu3141=) c.8328A>G (p.Leu2776=) c.4512A>G (p.Leu1504=) c.4065A>G (p.Leu1355=) c.3402A>G (p.Leu1134=) c.7917A>G (p.Leu2639=) | |
5 | g.13776497T>G | CA443535749 | DNAH5 | c.9315A>C (p.Leu3105=) c.9270A>C (p.Leu3090=) c.9423A>C (p.Leu3141=) c.8328A>C (p.Leu2776=) c.4512A>C (p.Leu1504=) c.4065A>C (p.Leu1355=) c.3402A>C (p.Leu1134=) c.7917A>C (p.Leu2639=) | ClinVar |
5 | g.13776498A>C | CA359208217 | DNAH5 | c.9314T>G (p.Leu3105Arg) c.9269T>G (p.Leu3090Arg) c.9422T>G (p.Leu3141Arg) c.8327T>G (p.Leu2776Arg) c.4511T>G (p.Leu1504Arg) c.4064T>G (p.Leu1355Arg) c.3401T>G (p.Leu1134Arg) c.7916T>G (p.Leu2639Arg) | |
5 | g.13776498A>G | CA359208219 | DNAH5 | c.9314T>C (p.Leu3105Pro) c.9269T>C (p.Leu3090Pro) c.9422T>C (p.Leu3141Pro) c.8327T>C (p.Leu2776Pro) c.4511T>C (p.Leu1504Pro) c.4064T>C (p.Leu1355Pro) c.3401T>C (p.Leu1134Pro) c.7916T>C (p.Leu2639Pro) | |
5 | g.13776498A>T | CA359208222 | DNAH5 | c.9314T>A (p.Leu3105Gln) c.9269T>A (p.Leu3090Gln) c.9422T>A (p.Leu3141Gln) c.8327T>A (p.Leu2776Gln) c.4511T>A (p.Leu1504Gln) c.4064T>A (p.Leu1355Gln) c.3401T>A (p.Leu1134Gln) c.7916T>A (p.Leu2639Gln) | |
5 | g.13776499G>A | CA443535752 | DNAH5 | c.9313C>T (p.Leu3105=) c.9268C>T (p.Leu3090=) c.9421C>T (p.Leu3141=) c.8326C>T (p.Leu2776=) c.4510C>T (p.Leu1504=) c.4063C>T (p.Leu1355=) c.3400C>T (p.Leu1134=) c.7915C>T (p.Leu2639=) | |
5 | g.13776499G>C | CA359208228 | DNAH5 | c.9313C>G (p.Leu3105Val) c.9268C>G (p.Leu3090Val) c.9421C>G (p.Leu3141Val) c.8326C>G (p.Leu2776Val) c.4510C>G (p.Leu1504Val) c.4063C>G (p.Leu1355Val) c.3400C>G (p.Leu1134Val) c.7915C>G (p.Leu2639Val) | |
5 | g.13776499G>T | CA359208224 | DNAH5 | c.9313C>A (p.Leu3105Ile) c.9268C>A (p.Leu3090Ile) c.9421C>A (p.Leu3141Ile) c.8326C>A (p.Leu2776Ile) c.4510C>A (p.Leu1504Ile) c.4063C>A (p.Leu1355Ile) c.3400C>A (p.Leu1134Ile) c.7915C>A (p.Leu2639Ile) | |
5 | g.13776501del | CA2673268733 | DNAH5 | c.9313del (p.Leu3105Ter) c.9268del (p.Leu3090Ter) c.9421del (p.Leu3141Ter) c.8326del (p.Leu2776Ter) c.4510del (p.Leu1504Ter) c.4063del (p.Leu1355Ter) c.3400del (p.Leu1134Ter) c.7915del (p.Leu2639Ter) | gnomAD v4 |