| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13844832C= | CA1528465008 | DNAH5 | c.5271+5G= (n.5271+5G=) c.5226+5G= (n.5226+5G=) n.5478+5G= c.5379+5G= (n.5379+5G=) c.4284+5G= (n.4284+5G=) c.468+5G= (n.468+5G=) c.22-2928G= (n.22-2928G=) c.3873+5G= (n.3873+5G=) n.5396+5G= | |
| 5 | g.13844832C>G | CA1073397049 | DNAH5 | c.5271+5G>C (n.5271+5G>C) c.5226+5G>C (n.5226+5G>C) n.5478+5G>C c.5379+5G>C (n.5379+5G>C) c.4284+5G>C (n.4284+5G>C) c.468+5G>C (n.468+5G>C) c.22-2928G>C (n.22-2928G>C) c.3873+5G>C (n.3873+5G>C) n.5396+5G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13844832C>T | CA3203746 | DNAH5 | c.5271+5G>A (n.5271+5G>A) c.5226+5G>A (n.5226+5G>A) n.5478+5G>A c.5379+5G>A (n.5379+5G>A) c.4284+5G>A (n.4284+5G>A) c.468+5G>A (n.468+5G>A) c.22-2928G>A (n.22-2928G>A) c.3873+5G>A (n.3873+5G>A) n.5396+5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844833G>A | CA3203748 | DNAH5 | c.5271+4C>T (n.5271+4C>T) c.5226+4C>T (n.5226+4C>T) n.5478+4C>T c.5379+4C>T (n.5379+4C>T) c.4284+4C>T (n.4284+4C>T) c.468+4C>T (n.468+4C>T) c.22-2929C>T (n.22-2929C>T) c.3873+4C>T (n.3873+4C>T) n.5396+4C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844833G>C | CA2673274715 | DNAH5 | c.5271+4C>G (n.5271+4C>G) c.5226+4C>G (n.5226+4C>G) n.5478+4C>G c.5379+4C>G (n.5379+4C>G) c.4284+4C>G (n.4284+4C>G) c.468+4C>G (n.468+4C>G) c.22-2929C>G (n.22-2929C>G) c.3873+4C>G (n.3873+4C>G) n.5396+4C>G | gnomAD v4 |
| 5 | g.13844833G= | CA1528465009 | DNAH5 | c.5271+4C= (n.5271+4C=) c.5226+4C= (n.5226+4C=) n.5478+4C= c.5379+4C= (n.5379+4C=) c.4284+4C= (n.4284+4C=) c.468+4C= (n.468+4C=) c.22-2929C= (n.22-2929C=) c.3873+4C= (n.3873+4C=) n.5396+4C= | |
| 5 | g.13844835_13844836insGGAA | CA3203747 | DNAH5 | c.5271+4_5271+5insCTTC (n.5271+4_5271+5insCTTC) c.5226+4_5226+5insCTTC (n.5226+4_5226+5insCTTC) n.5478+4_5478+5insCTTC c.5379+4_5379+5insCTTC (n.5379+4_5379+5insCTTC) c.4284+4_4284+5insCTTC (n.4284+4_4284+5insCTTC) c.468+4_468+5insCTTC (n.468+4_468+5insCTTC) c.22-2929_22-2928insCTTC (n.22-2929_22-2928insCTTC) c.3873+4_3873+5insCTTC (n.3873+4_3873+5insCTTC) n.5396+4_5396+5insCTTC | dbSNP ExAC gnomAD v2 |
| 5 | g.13844835A>C | CA359213466 | DNAH5 | c.5271+2T>G (n.5271+2T>G) c.5226+2T>G (n.5226+2T>G) n.5478+2T>G c.5379+2T>G (n.5379+2T>G) c.4284+2T>G (n.4284+2T>G) c.468+2T>G (n.468+2T>G) c.22-2931T>G (n.22-2931T>G) c.3873+2T>G (n.3873+2T>G) n.5396+2T>G | |
| 5 | g.13844835A>G | CA359213470 | DNAH5 | c.5271+2T>C (n.5271+2T>C) c.5226+2T>C (n.5226+2T>C) n.5478+2T>C c.5379+2T>C (n.5379+2T>C) c.4284+2T>C (n.4284+2T>C) c.468+2T>C (n.468+2T>C) c.22-2931T>C (n.22-2931T>C) c.3873+2T>C (n.3873+2T>C) n.5396+2T>C | |
| 5 | g.13844835A>T | CA359213477 | DNAH5 | c.5271+2T>A (n.5271+2T>A) c.5226+2T>A (n.5226+2T>A) n.5478+2T>A c.5379+2T>A (n.5379+2T>A) c.4284+2T>A (n.4284+2T>A) c.468+2T>A (n.468+2T>A) c.22-2931T>A (n.22-2931T>A) c.3873+2T>A (n.3873+2T>A) n.5396+2T>A | |
| 5 | g.13844836C>A | CA359213481 | DNAH5 | c.5271+1G>T (n.5271+1G>T) c.5226+1G>T (n.5226+1G>T) n.5478+1G>T c.5379+1G>T (n.5379+1G>T) c.4284+1G>T (n.4284+1G>T) c.468+1G>T (n.468+1G>T) c.22-2932G>T (n.22-2932G>T) c.3873+1G>T (n.3873+1G>T) n.5396+1G>T | ClinVar |
| 5 | g.13844836C= | CA1528465010 | DNAH5 | c.5271+1G= (n.5271+1G=) c.5226+1G= (n.5226+1G=) n.5478+1G= c.5379+1G= (n.5379+1G=) c.4284+1G= (n.4284+1G=) c.468+1G= (n.468+1G=) c.22-2932G= (n.22-2932G=) c.3873+1G= (n.3873+1G=) n.5396+1G= | |
| 5 | g.13844836C>G | CA359213483 | DNAH5 | c.5271+1G>C (n.5271+1G>C) c.5226+1G>C (n.5226+1G>C) n.5478+1G>C c.5379+1G>C (n.5379+1G>C) c.4284+1G>C (n.4284+1G>C) c.468+1G>C (n.468+1G>C) c.22-2932G>C (n.22-2932G>C) c.3873+1G>C (n.3873+1G>C) n.5396+1G>C | |
| 5 | g.13844836C>T | CA359213485 | DNAH5 | c.5271+1G>A (n.5271+1G>A) c.5226+1G>A (n.5226+1G>A) n.5478+1G>A c.5379+1G>A (n.5379+1G>A) c.4284+1G>A (n.4284+1G>A) c.468+1G>A (n.468+1G>A) c.22-2932G>A (n.22-2932G>A) c.3873+1G>A (n.3873+1G>A) n.5396+1G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13844837C>A | CA359213492 | DNAH5 | c.5271G>T (p.Lys1757Asn) c.5226G>T (p.Lys1742Asn) n.5478G>T c.5379G>T (p.Lys1793Asn) c.4284G>T (p.Lys1428Asn) c.468G>T (p.Lys156Asn) c.22-2933G>T (n.22-2933G>T) c.3873G>T (p.Lys1291Asn) n.5396G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13844837C= | CA1528465011 | DNAH5 | c.5271G= (p.Lys1757=) c.5226G= (p.Lys1742=) n.5478G= c.5379G= (p.Lys1793=) c.4284G= (p.Lys1428=) c.468G= (p.Lys156=) c.22-2933G= (n.22-2933G=) c.3873G= (p.Lys1291=) n.5396G= | |
| 5 | g.13844837C>G | CA359213496 | DNAH5 | c.5271G>C (p.Lys1757Asn) c.5226G>C (p.Lys1742Asn) n.5478G>C c.5379G>C (p.Lys1793Asn) c.4284G>C (p.Lys1428Asn) c.468G>C (p.Lys156Asn) c.22-2933G>C (n.22-2933G>C) c.3873G>C (p.Lys1291Asn) n.5396G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13844837C>T | CA443257606 | DNAH5 | c.5271G>A (p.Lys1757=) c.5226G>A (p.Lys1742=) n.5478G>A c.5379G>A (p.Lys1793=) c.4284G>A (p.Lys1428=) c.468G>A (p.Lys156=) c.22-2933G>A (n.22-2933G>A) c.3873G>A (p.Lys1291=) n.5396G>A | |
| 5 | g.13844838T>A | CA113954475 | DNAH5 | c.5270A>T (p.Lys1757Met) c.5225A>T (p.Lys1742Met) n.5477A>T c.5378A>T (p.Lys1793Met) c.4283A>T (p.Lys1428Met) c.467A>T (p.Lys156Met) c.22-2934A>T (n.22-2934A>T) c.3872A>T (p.Lys1291Met) n.5395A>T | dbSNP COSMIC |
| 5 | g.13844838T>C | CA359213505 | DNAH5 | c.5270A>G (p.Lys1757Arg) c.5225A>G (p.Lys1742Arg) n.5477A>G c.5378A>G (p.Lys1793Arg) c.4283A>G (p.Lys1428Arg) c.467A>G (p.Lys156Arg) c.22-2934A>G (n.22-2934A>G) c.3872A>G (p.Lys1291Arg) n.5395A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13844838T>G | CA359213512 | DNAH5 | c.5270A>C (p.Lys1757Thr) c.5225A>C (p.Lys1742Thr) n.5477A>C c.5378A>C (p.Lys1793Thr) c.4283A>C (p.Lys1428Thr) c.467A>C (p.Lys156Thr) c.22-2934A>C (n.22-2934A>C) c.3872A>C (p.Lys1291Thr) n.5395A>C | |
| 5 | g.13844838T= | CA1528465012 | DNAH5 | c.5270A= (p.Lys1757=) c.5225A= (p.Lys1742=) n.5477A= c.5378A= (p.Lys1793=) c.4283A= (p.Lys1428=) c.467A= (p.Lys156=) c.22-2934A= (n.22-2934A=) c.3872A= (p.Lys1291=) n.5395A= | |
| 5 | g.13844839T>A | CA359213516 | DNAH5 | c.5269A>T (p.Lys1757Ter) c.5224A>T (p.Lys1742Ter) n.5476A>T c.5377A>T (p.Lys1793Ter) c.4282A>T (p.Lys1428Ter) c.466A>T (p.Lys156Ter) c.22-2935A>T (n.22-2935A>T) c.3871A>T (p.Lys1291Ter) n.5394A>T | |
| 5 | g.13844839T>C | CA359213523 | DNAH5 | c.5269A>G (p.Lys1757Glu) c.5224A>G (p.Lys1742Glu) n.5476A>G c.5377A>G (p.Lys1793Glu) c.4282A>G (p.Lys1428Glu) c.466A>G (p.Lys156Glu) c.22-2935A>G (n.22-2935A>G) c.3871A>G (p.Lys1291Glu) n.5394A>G | |
| 5 | g.13844839T>G | CA359213519 | DNAH5 | c.5269A>C (p.Lys1757Gln) c.5224A>C (p.Lys1742Gln) n.5476A>C c.5377A>C (p.Lys1793Gln) c.4282A>C (p.Lys1428Gln) c.466A>C (p.Lys156Gln) c.22-2935A>C (n.22-2935A>C) c.3871A>C (p.Lys1291Gln) n.5394A>C | |
| 5 | g.13844840T>A | CA359213525 | DNAH5 | c.5268A>T (p.Glu1756Asp) c.5223A>T (p.Glu1741Asp) n.5475A>T c.5376A>T (p.Glu1792Asp) c.4281A>T (p.Glu1427Asp) c.465A>T (p.Glu155Asp) c.22-2936A>T (n.22-2936A>T) c.3870A>T (p.Glu1290Asp) n.5393A>T | |
| 5 | g.13844840T>C | CA443257617 | DNAH5 | c.5268A>G (p.Glu1756=) c.5223A>G (p.Glu1741=) n.5475A>G c.5376A>G (p.Glu1792=) c.4281A>G (p.Glu1427=) c.465A>G (p.Glu155=) c.22-2936A>G (n.22-2936A>G) c.3870A>G (p.Glu1290=) n.5393A>G | ClinVar |
| 5 | g.13844840T>G | CA359213527 | DNAH5 | c.5268A>C (p.Glu1756Asp) c.5223A>C (p.Glu1741Asp) n.5475A>C c.5376A>C (p.Glu1792Asp) c.4281A>C (p.Glu1427Asp) c.465A>C (p.Glu155Asp) c.22-2936A>C (n.22-2936A>C) c.3870A>C (p.Glu1290Asp) n.5393A>C | |
| 5 | g.13844841T>A | CA359213530 | DNAH5 | c.5267A>T (p.Glu1756Val) c.5222A>T (p.Glu1741Val) n.5474A>T c.5375A>T (p.Glu1792Val) c.4280A>T (p.Glu1427Val) c.464A>T (p.Glu155Val) c.22-2937A>T (n.22-2937A>T) c.3869A>T (p.Glu1290Val) n.5392A>T | |
| 5 | g.13844841T>C | CA3203749 | DNAH5 | c.5267A>G (p.Glu1756Gly) c.5222A>G (p.Glu1741Gly) n.5474A>G c.5375A>G (p.Glu1792Gly) c.4280A>G (p.Glu1427Gly) c.464A>G (p.Glu155Gly) c.22-2937A>G (n.22-2937A>G) c.3869A>G (p.Glu1290Gly) n.5392A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844841T>G | CA359213539 | DNAH5 | c.5267A>C (p.Glu1756Ala) c.5222A>C (p.Glu1741Ala) n.5474A>C c.5375A>C (p.Glu1792Ala) c.4280A>C (p.Glu1427Ala) c.464A>C (p.Glu155Ala) c.22-2937A>C (n.22-2937A>C) c.3869A>C (p.Glu1290Ala) n.5392A>C | |
| 5 | g.13844841T= | CA1528465013 | DNAH5 | c.5267A= (p.Glu1756=) c.5222A= (p.Glu1741=) n.5474A= c.5375A= (p.Glu1792=) c.4280A= (p.Glu1427=) c.464A= (p.Glu155=) c.22-2937A= (n.22-2937A=) c.3869A= (p.Glu1290=) n.5392A= | |
| 5 | g.13844842C>A | CA359213557 | DNAH5 | c.5266G>T (p.Glu1756Ter) c.5221G>T (p.Glu1741Ter) n.5473G>T c.5374G>T (p.Glu1792Ter) c.4279G>T (p.Glu1427Ter) c.463G>T (p.Glu155Ter) c.22-2938G>T (n.22-2938G>T) c.3868G>T (p.Glu1290Ter) n.5391G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13844842C= | CA1528465014 | DNAH5 | c.5266G= (p.Glu1756=) c.5221G= (p.Glu1741=) n.5473G= c.5374G= (p.Glu1792=) c.4279G= (p.Glu1427=) c.463G= (p.Glu155=) c.22-2938G= (n.22-2938G=) c.3868G= (p.Glu1290=) n.5391G= | |
| 5 | g.13844842C>G | CA359213552 | DNAH5 | c.5266G>C (p.Glu1756Gln) c.5221G>C (p.Glu1741Gln) n.5473G>C c.5374G>C (p.Glu1792Gln) c.4279G>C (p.Glu1427Gln) c.463G>C (p.Glu155Gln) c.22-2938G>C (n.22-2938G>C) c.3868G>C (p.Glu1290Gln) n.5391G>C | |
| 5 | g.13844842C>T | CA3203750 | DNAH5 | c.5266G>A (p.Glu1756Lys) c.5221G>A (p.Glu1741Lys) n.5473G>A c.5374G>A (p.Glu1792Lys) c.4279G>A (p.Glu1427Lys) c.463G>A (p.Glu155Lys) c.22-2938G>A (n.22-2938G>A) c.3868G>A (p.Glu1290Lys) n.5391G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844843G>A | CA3203752 | DNAH5 | c.5265C>T (p.His1755=) c.5220C>T (p.His1740=) n.5472C>T c.5373C>T (p.His1791=) c.4278C>T (p.His1426=) c.462C>T (p.His154=) c.22-2939C>T (n.22-2939C>T) c.3867C>T (p.His1289=) n.5390C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844843G>C | CA359213561 | DNAH5 | c.5265C>G (p.His1755Gln) c.5220C>G (p.His1740Gln) n.5472C>G c.5373C>G (p.His1791Gln) c.4278C>G (p.His1426Gln) c.462C>G (p.His154Gln) c.22-2939C>G (n.22-2939C>G) c.3867C>G (p.His1289Gln) n.5390C>G | |
| 5 | g.13844843G= | CA1528465015 | DNAH5 | c.5265C= (p.His1755=) c.5220C= (p.His1740=) n.5472C= c.5373C= (p.His1791=) c.4278C= (p.His1426=) c.462C= (p.His154=) c.22-2939C= (n.22-2939C=) c.3867C= (p.His1289=) n.5390C= | |
| 5 | g.13844843G>T | CA3203751 | DNAH5 | c.5265C>A (p.His1755Gln) c.5220C>A (p.His1740Gln) n.5472C>A c.5373C>A (p.His1791Gln) c.4278C>A (p.His1426Gln) c.462C>A (p.His154Gln) c.22-2939C>A (n.22-2939C>A) c.3867C>A (p.His1289Gln) n.5390C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844844T>A | CA359213564 | DNAH5 | c.5264A>T (p.His1755Leu) c.5219A>T (p.His1740Leu) n.5471A>T c.5372A>T (p.His1791Leu) c.4277A>T (p.His1426Leu) c.461A>T (p.His154Leu) c.22-2940A>T (n.22-2940A>T) c.3866A>T (p.His1289Leu) n.5389A>T | |
| 5 | g.13844844T>C | CA359213565 | DNAH5 | c.5264A>G (p.His1755Arg) c.5219A>G (p.His1740Arg) n.5471A>G c.5372A>G (p.His1791Arg) c.4277A>G (p.His1426Arg) c.461A>G (p.His154Arg) c.22-2940A>G (n.22-2940A>G) c.3866A>G (p.His1289Arg) n.5389A>G | |
| 5 | g.13844844T>G | CA359213566 | DNAH5 | c.5264A>C (p.His1755Pro) c.5219A>C (p.His1740Pro) n.5471A>C c.5372A>C (p.His1791Pro) c.4277A>C (p.His1426Pro) c.461A>C (p.His154Pro) c.22-2940A>C (n.22-2940A>C) c.3866A>C (p.His1289Pro) n.5389A>C | |
| 5 | g.13844845G>A | CA3203753 | DNAH5 | c.5263C>T (p.His1755Tyr) c.5218C>T (p.His1740Tyr) n.5470C>T c.5371C>T (p.His1791Tyr) c.4276C>T (p.His1426Tyr) c.460C>T (p.His154Tyr) c.22-2941C>T (n.22-2941C>T) c.3865C>T (p.His1289Tyr) n.5388C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844845G>C | CA359213579 | DNAH5 | c.5263C>G (p.His1755Asp) c.5218C>G (p.His1740Asp) n.5470C>G c.5371C>G (p.His1791Asp) c.4276C>G (p.His1426Asp) c.460C>G (p.His154Asp) c.22-2941C>G (n.22-2941C>G) c.3865C>G (p.His1289Asp) n.5388C>G | |
| 5 | g.13844845G= | CA1528465016 | DNAH5 | c.5263C= (p.His1755=) c.5218C= (p.His1740=) n.5470C= c.5371C= (p.His1791=) c.4276C= (p.His1426=) c.460C= (p.His154=) c.22-2941C= (n.22-2941C=) c.3865C= (p.His1289=) n.5388C= | |
| 5 | g.13844845G>T | CA359213571 | DNAH5 | c.5263C>A (p.His1755Asn) c.5218C>A (p.His1740Asn) n.5470C>A c.5371C>A (p.His1791Asn) c.4276C>A (p.His1426Asn) c.460C>A (p.His154Asn) c.22-2941C>A (n.22-2941C>A) c.3865C>A (p.His1289Asn) n.5388C>A | |
| 5 | g.13844846G>A | CA443257637 | DNAH5 | c.5262C>T (p.Phe1754=) c.5217C>T (p.Phe1739=) n.5469C>T c.5370C>T (p.Phe1790=) c.4275C>T (p.Phe1425=) c.459C>T (p.Phe153=) c.22-2942C>T (n.22-2942C>T) c.3864C>T (p.Phe1288=) n.5387C>T | |
| 5 | g.13844846G>C | CA359213589 | DNAH5 | c.5262C>G (p.Phe1754Leu) c.5217C>G (p.Phe1739Leu) n.5469C>G c.5370C>G (p.Phe1790Leu) c.4275C>G (p.Phe1425Leu) c.459C>G (p.Phe153Leu) c.22-2942C>G (n.22-2942C>G) c.3864C>G (p.Phe1288Leu) n.5387C>G | ClinVar dbSNP |
| 5 | g.13844846G= | CA1528465017 | DNAH5 | c.5262C= (p.Phe1754=) c.5217C= (p.Phe1739=) n.5469C= c.5370C= (p.Phe1790=) c.4275C= (p.Phe1425=) c.459C= (p.Phe153=) c.22-2942C= (n.22-2942C=) c.3864C= (p.Phe1288=) n.5387C= | |
| 5 | g.13844846G>T | CA359213593 | DNAH5 | c.5262C>A (p.Phe1754Leu) c.5217C>A (p.Phe1739Leu) n.5469C>A c.5370C>A (p.Phe1790Leu) c.4275C>A (p.Phe1425Leu) c.459C>A (p.Phe153Leu) c.22-2942C>A (n.22-2942C>A) c.3864C>A (p.Phe1288Leu) n.5387C>A | |
| 5 | g.13844847A>C | CA359213595 | DNAH5 | c.5261T>G (p.Phe1754Cys) c.5216T>G (p.Phe1739Cys) n.5468T>G c.5369T>G (p.Phe1790Cys) c.4274T>G (p.Phe1425Cys) c.458T>G (p.Phe153Cys) c.22-2943T>G (n.22-2943T>G) c.3863T>G (p.Phe1288Cys) n.5386T>G | |
| 5 | g.13844847A>G | CA359213600 | DNAH5 | c.5261T>C (p.Phe1754Ser) c.5216T>C (p.Phe1739Ser) n.5468T>C c.5369T>C (p.Phe1790Ser) c.4274T>C (p.Phe1425Ser) c.458T>C (p.Phe153Ser) c.22-2943T>C (n.22-2943T>C) c.3863T>C (p.Phe1288Ser) n.5386T>C | gnomAD v4 |
| 5 | g.13844847A>T | CA359213604 | DNAH5 | c.5261T>A (p.Phe1754Tyr) c.5216T>A (p.Phe1739Tyr) n.5468T>A c.5369T>A (p.Phe1790Tyr) c.4274T>A (p.Phe1425Tyr) c.458T>A (p.Phe153Tyr) c.22-2943T>A (n.22-2943T>A) c.3863T>A (p.Phe1288Tyr) n.5386T>A | |
| 5 | g.13844848A>C | CA359213617 | DNAH5 | c.5260T>G (p.Phe1754Val) c.5215T>G (p.Phe1739Val) n.5467T>G c.5368T>G (p.Phe1790Val) c.4273T>G (p.Phe1425Val) c.457T>G (p.Phe153Val) c.22-2944T>G (n.22-2944T>G) c.3862T>G (p.Phe1288Val) n.5385T>G | |
| 5 | g.13844848A>G | CA359213628 | DNAH5 | c.5260T>C (p.Phe1754Leu) c.5215T>C (p.Phe1739Leu) n.5467T>C c.5368T>C (p.Phe1790Leu) c.4273T>C (p.Phe1425Leu) c.457T>C (p.Phe153Leu) c.22-2944T>C (n.22-2944T>C) c.3862T>C (p.Phe1288Leu) n.5385T>C | |
| 5 | g.13844848A>T | CA359213631 | DNAH5 | c.5260T>A (p.Phe1754Ile) c.5215T>A (p.Phe1739Ile) n.5467T>A c.5368T>A (p.Phe1790Ile) c.4273T>A (p.Phe1425Ile) c.457T>A (p.Phe153Ile) c.22-2944T>A (n.22-2944T>A) c.3862T>A (p.Phe1288Ile) n.5385T>A | |
| 5 | g.13844849C>A | CA359213633 | DNAH5 | c.5259G>T (p.Lys1753Asn) c.5214G>T (p.Lys1738Asn) n.5466G>T c.5367G>T (p.Lys1789Asn) c.4272G>T (p.Lys1424Asn) c.456G>T (p.Lys152Asn) c.22-2945G>T (n.22-2945G>T) c.3861G>T (p.Lys1287Asn) n.5384G>T | |
| 5 | g.13844849C>G | CA359213635 | DNAH5 | c.5259G>C (p.Lys1753Asn) c.5214G>C (p.Lys1738Asn) n.5466G>C c.5367G>C (p.Lys1789Asn) c.4272G>C (p.Lys1424Asn) c.456G>C (p.Lys152Asn) c.22-2945G>C (n.22-2945G>C) c.3861G>C (p.Lys1287Asn) n.5384G>C | |
| 5 | g.13844849C>T | CA443257649 | DNAH5 | c.5259G>A (p.Lys1753=) c.5214G>A (p.Lys1738=) n.5466G>A c.5367G>A (p.Lys1789=) c.4272G>A (p.Lys1424=) c.456G>A (p.Lys152=) c.22-2945G>A (n.22-2945G>A) c.3861G>A (p.Lys1287=) n.5384G>A | |
| 5 | g.13844850T>A | CA359213640 | DNAH5 | c.5258A>T (p.Lys1753Met) c.5213A>T (p.Lys1738Met) n.5465A>T c.5366A>T (p.Lys1789Met) c.4271A>T (p.Lys1424Met) c.455A>T (p.Lys152Met) c.22-2946A>T (n.22-2946A>T) c.3860A>T (p.Lys1287Met) n.5383A>T | |
| 5 | g.13844850T>C | CA359213654 | DNAH5 | c.5258A>G (p.Lys1753Arg) c.5213A>G (p.Lys1738Arg) n.5465A>G c.5366A>G (p.Lys1789Arg) c.4271A>G (p.Lys1424Arg) c.455A>G (p.Lys152Arg) c.22-2946A>G (n.22-2946A>G) c.3860A>G (p.Lys1287Arg) n.5383A>G | gnomAD v4 |
| 5 | g.13844850T>G | CA359213641 | DNAH5 | c.5258A>C (p.Lys1753Thr) c.5213A>C (p.Lys1738Thr) n.5465A>C c.5366A>C (p.Lys1789Thr) c.4271A>C (p.Lys1424Thr) c.455A>C (p.Lys152Thr) c.22-2946A>C (n.22-2946A>C) c.3860A>C (p.Lys1287Thr) n.5383A>C | dbSNP gnomAD v2 |
| 5 | g.13844850T= | CA1528465018 | DNAH5 | c.5258A= (p.Lys1753=) c.5213A= (p.Lys1738=) n.5465A= c.5366A= (p.Lys1789=) c.4271A= (p.Lys1424=) c.455A= (p.Lys152=) c.22-2946A= (n.22-2946A=) c.3860A= (p.Lys1287=) n.5383A= | |
| 5 | g.13844851T>A | CA359213655 | DNAH5 | c.5257A>T (p.Lys1753Ter) c.5212A>T (p.Lys1738Ter) n.5464A>T c.5365A>T (p.Lys1789Ter) c.4270A>T (p.Lys1424Ter) c.454A>T (p.Lys152Ter) c.22-2947A>T (n.22-2947A>T) c.3859A>T (p.Lys1287Ter) n.5382A>T | |
| 5 | g.13844851T>C | CA359213657 | DNAH5 | c.5257A>G (p.Lys1753Glu) c.5212A>G (p.Lys1738Glu) n.5464A>G c.5365A>G (p.Lys1789Glu) c.4270A>G (p.Lys1424Glu) c.454A>G (p.Lys152Glu) c.22-2947A>G (n.22-2947A>G) c.3859A>G (p.Lys1287Glu) n.5382A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13844851T>G | CA359213656 | DNAH5 | c.5257A>C (p.Lys1753Gln) c.5212A>C (p.Lys1738Gln) n.5464A>C c.5365A>C (p.Lys1789Gln) c.4270A>C (p.Lys1424Gln) c.454A>C (p.Lys152Gln) c.22-2947A>C (n.22-2947A>C) c.3859A>C (p.Lys1287Gln) n.5382A>C | |
| 5 | g.13844851T= | CA1528465019 | DNAH5 | c.5257A= (p.Lys1753=) c.5212A= (p.Lys1738=) n.5464A= c.5365A= (p.Lys1789=) c.4270A= (p.Lys1424=) c.454A= (p.Lys152=) c.22-2947A= (n.22-2947A=) c.3859A= (p.Lys1287=) n.5382A= | |
| 5 | g.13844852G>A | CA443257659 | DNAH5 | c.5256C>T (p.Val1752=) c.5211C>T (p.Val1737=) n.5463C>T c.5364C>T (p.Val1788=) c.4269C>T (p.Val1423=) c.453C>T (p.Val151=) c.22-2948C>T (n.22-2948C>T) c.3858C>T (p.Val1286=) n.5381C>T | |
| 5 | g.13844852G>C | CA3203754 | DNAH5 | c.5256C>G (p.Val1752=) c.5211C>G (p.Val1737=) n.5463C>G c.5364C>G (p.Val1788=) c.4269C>G (p.Val1423=) c.453C>G (p.Val151=) c.22-2948C>G (n.22-2948C>G) c.3858C>G (p.Val1286=) n.5381C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13844852G= | CA1528465020 | DNAH5 | c.5256C= (p.Val1752=) c.5211C= (p.Val1737=) n.5463C= c.5364C= (p.Val1788=) c.4269C= (p.Val1423=) c.453C= (p.Val151=) c.22-2948C= (n.22-2948C=) c.3858C= (p.Val1286=) n.5381C= | |
| 5 | g.13844852G>T | CA443257661 | DNAH5 | c.5256C>A (p.Val1752=) c.5211C>A (p.Val1737=) n.5463C>A c.5364C>A (p.Val1788=) c.4269C>A (p.Val1423=) c.453C>A (p.Val151=) c.22-2948C>A (n.22-2948C>A) c.3858C>A (p.Val1286=) n.5381C>A | gnomAD v4 |
| 5 | g.13844852_13844870dup | CA2580072029 | DNAH5 | c.5238_5256dup (p.Lys1753Ter) c.5193_5211dup (p.Lys1738Ter) n.5445_5463dup c.5346_5364dup (p.Lys1789Ter) c.4251_4269dup (p.Lys1424Ter) c.435_453dup (p.Lys152Ter) c.22-2966_22-2948dup (n.22-2966_22-2948dup) c.3840_3858dup (p.Lys1287Ter) n.5363_5381dup | ClinVar |
| 5 | g.13844853A>C | CA359213662 | DNAH5 | c.5255T>G (p.Val1752Gly) c.5210T>G (p.Val1737Gly) n.5462T>G c.5363T>G (p.Val1788Gly) c.4268T>G (p.Val1423Gly) c.452T>G (p.Val151Gly) c.22-2949T>G (n.22-2949T>G) c.3857T>G (p.Val1286Gly) n.5380T>G | |
| 5 | g.13844853A>G | CA359213658 | DNAH5 | c.5255T>C (p.Val1752Ala) c.5210T>C (p.Val1737Ala) n.5462T>C c.5363T>C (p.Val1788Ala) c.4268T>C (p.Val1423Ala) c.452T>C (p.Val151Ala) c.22-2949T>C (n.22-2949T>C) c.3857T>C (p.Val1286Ala) n.5380T>C | |
| 5 | g.13844853A>T | CA359213660 | DNAH5 | c.5255T>A (p.Val1752Asp) c.5210T>A (p.Val1737Asp) n.5462T>A c.5363T>A (p.Val1788Asp) c.4268T>A (p.Val1423Asp) c.452T>A (p.Val151Asp) c.22-2949T>A (n.22-2949T>A) c.3857T>A (p.Val1286Asp) n.5380T>A | |
| 5 | g.13844854C>A | CA359213666 | DNAH5 | c.5254G>T (p.Val1752Phe) c.5209G>T (p.Val1737Phe) n.5461G>T c.5362G>T (p.Val1788Phe) c.4267G>T (p.Val1423Phe) c.451G>T (p.Val151Phe) c.22-2950G>T (n.22-2950G>T) c.3856G>T (p.Val1286Phe) n.5379G>T | |
| 5 | g.13844854C>G | CA359213671 | DNAH5 | c.5254G>C (p.Val1752Leu) c.5209G>C (p.Val1737Leu) n.5461G>C c.5362G>C (p.Val1788Leu) c.4267G>C (p.Val1423Leu) c.451G>C (p.Val151Leu) c.22-2950G>C (n.22-2950G>C) c.3856G>C (p.Val1286Leu) n.5379G>C | gnomAD v4 |
| 5 | g.13844854C>T | CA359213672 | DNAH5 | c.5254G>A (p.Val1752Ile) c.5209G>A (p.Val1737Ile) n.5461G>A c.5362G>A (p.Val1788Ile) c.4267G>A (p.Val1423Ile) c.451G>A (p.Val151Ile) c.22-2950G>A (n.22-2950G>A) c.3856G>A (p.Val1286Ile) n.5379G>A | gnomAD v4 |
| 5 | g.13844855A>C | CA443257681 | DNAH5 | c.5253T>G (p.Ser1751=) c.5208T>G (p.Ser1736=) n.5460T>G c.5361T>G (p.Ser1787=) c.4266T>G (p.Ser1422=) c.450T>G (p.Ser150=) c.22-2951T>G (n.22-2951T>G) c.3855T>G (p.Ser1285=) n.5378T>G | |
| 5 | g.13844855A>G | CA443257683 | DNAH5 | c.5253T>C (p.Ser1751=) c.5208T>C (p.Ser1736=) n.5460T>C c.5361T>C (p.Ser1787=) c.4266T>C (p.Ser1422=) c.450T>C (p.Ser150=) c.22-2951T>C (n.22-2951T>C) c.3855T>C (p.Ser1285=) n.5378T>C | |
| 5 | g.13844855A>T | CA443257685 | DNAH5 | c.5253T>A (p.Ser1751=) c.5208T>A (p.Ser1736=) n.5460T>A c.5361T>A (p.Ser1787=) c.4266T>A (p.Ser1422=) c.450T>A (p.Ser150=) c.22-2951T>A (n.22-2951T>A) c.3855T>A (p.Ser1285=) n.5378T>A | |
| 5 | g.13844856G>A | CA359213681 | DNAH5 | c.5252C>T (p.Ser1751Phe) c.5207C>T (p.Ser1736Phe) n.5459C>T c.5360C>T (p.Ser1787Phe) c.4265C>T (p.Ser1422Phe) c.449C>T (p.Ser150Phe) c.22-2952C>T (n.22-2952C>T) c.3854C>T (p.Ser1285Phe) n.5377C>T | gnomAD v4 |
| 5 | g.13844856G>C | CA359213693 | DNAH5 | c.5252C>G (p.Ser1751Cys) c.5207C>G (p.Ser1736Cys) n.5459C>G c.5360C>G (p.Ser1787Cys) c.4265C>G (p.Ser1422Cys) c.449C>G (p.Ser150Cys) c.22-2952C>G (n.22-2952C>G) c.3854C>G (p.Ser1285Cys) n.5377C>G | |
| 5 | g.13844856G>T | CA359213722 | DNAH5 | c.5252C>A (p.Ser1751Tyr) c.5207C>A (p.Ser1736Tyr) n.5459C>A c.5360C>A (p.Ser1787Tyr) c.4265C>A (p.Ser1422Tyr) c.449C>A (p.Ser150Tyr) c.22-2952C>A (n.22-2952C>A) c.3854C>A (p.Ser1285Tyr) n.5377C>A | ClinVar dbSNP |
| 5 | g.13844857A>C | CA359213730 | DNAH5 | c.5251T>G (p.Ser1751Ala) c.5206T>G (p.Ser1736Ala) n.5458T>G c.5359T>G (p.Ser1787Ala) c.4264T>G (p.Ser1422Ala) c.448T>G (p.Ser150Ala) c.22-2953T>G (n.22-2953T>G) c.3853T>G (p.Ser1285Ala) n.5376T>G | |
| 5 | g.13844857A>G | CA359213735 | DNAH5 | c.5251T>C (p.Ser1751Pro) c.5206T>C (p.Ser1736Pro) n.5458T>C c.5359T>C (p.Ser1787Pro) c.4264T>C (p.Ser1422Pro) c.448T>C (p.Ser150Pro) c.22-2953T>C (n.22-2953T>C) c.3853T>C (p.Ser1285Pro) n.5376T>C | |
| 5 | g.13844857A>T | CA359213742 | DNAH5 | c.5251T>A (p.Ser1751Thr) c.5206T>A (p.Ser1736Thr) n.5458T>A c.5359T>A (p.Ser1787Thr) c.4264T>A (p.Ser1422Thr) c.448T>A (p.Ser150Thr) c.22-2953T>A (n.22-2953T>A) c.3853T>A (p.Ser1285Thr) n.5376T>A | |
| 5 | g.13844858T>A | CA359213746 | DNAH5 | c.5250A>T (p.Lys1750Asn) c.5205A>T (p.Lys1735Asn) n.5457A>T c.5358A>T (p.Lys1786Asn) c.4263A>T (p.Lys1421Asn) c.447A>T (p.Lys149Asn) c.22-2954A>T (n.22-2954A>T) c.3852A>T (p.Lys1284Asn) n.5375A>T | |
| 5 | g.13844858T>C | CA443257694 | DNAH5 | c.5250A>G (p.Lys1750=) c.5205A>G (p.Lys1735=) n.5457A>G c.5358A>G (p.Lys1786=) c.4263A>G (p.Lys1421=) c.447A>G (p.Lys149=) c.22-2954A>G (n.22-2954A>G) c.3852A>G (p.Lys1284=) n.5375A>G | |
| 5 | g.13844858T>G | CA359213760 | DNAH5 | c.5250A>C (p.Lys1750Asn) c.5205A>C (p.Lys1735Asn) n.5457A>C c.5358A>C (p.Lys1786Asn) c.4263A>C (p.Lys1421Asn) c.447A>C (p.Lys149Asn) c.22-2954A>C (n.22-2954A>C) c.3852A>C (p.Lys1284Asn) n.5375A>C | |
| 5 | g.13844859T>A | CA359213765 | DNAH5 | c.5249A>T (p.Lys1750Ile) c.5204A>T (p.Lys1735Ile) n.5456A>T c.5357A>T (p.Lys1786Ile) c.4262A>T (p.Lys1421Ile) c.446A>T (p.Lys149Ile) c.22-2955A>T (n.22-2955A>T) c.3851A>T (p.Lys1284Ile) n.5374A>T | gnomAD v4 |
| 5 | g.13844859T>C | CA359213775 | DNAH5 | c.5249A>G (p.Lys1750Arg) c.5204A>G (p.Lys1735Arg) n.5456A>G c.5357A>G (p.Lys1786Arg) c.4262A>G (p.Lys1421Arg) c.446A>G (p.Lys149Arg) c.22-2955A>G (n.22-2955A>G) c.3851A>G (p.Lys1284Arg) n.5374A>G | |
| 5 | g.13844859T>G | CA359213773 | DNAH5 | c.5249A>C (p.Lys1750Thr) c.5204A>C (p.Lys1735Thr) n.5456A>C c.5357A>C (p.Lys1786Thr) c.4262A>C (p.Lys1421Thr) c.446A>C (p.Lys149Thr) c.22-2955A>C (n.22-2955A>C) c.3851A>C (p.Lys1284Thr) n.5374A>C | |
| 5 | g.13844860T>A | CA359213782 | DNAH5 | c.5248A>T (p.Lys1750Ter) c.5203A>T (p.Lys1735Ter) n.5455A>T c.5356A>T (p.Lys1786Ter) c.4261A>T (p.Lys1421Ter) c.445A>T (p.Lys149Ter) c.22-2956A>T (n.22-2956A>T) c.3850A>T (p.Lys1284Ter) n.5373A>T | |
| 5 | g.13844860T>C | CA3203755 | DNAH5 | c.5248A>G (p.Lys1750Glu) c.5203A>G (p.Lys1735Glu) n.5455A>G c.5356A>G (p.Lys1786Glu) c.4261A>G (p.Lys1421Glu) c.445A>G (p.Lys149Glu) c.22-2956A>G (n.22-2956A>G) c.3850A>G (p.Lys1284Glu) n.5373A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844860T>G | CA359213789 | DNAH5 | c.5248A>C (p.Lys1750Gln) c.5203A>C (p.Lys1735Gln) n.5455A>C c.5356A>C (p.Lys1786Gln) c.4261A>C (p.Lys1421Gln) c.445A>C (p.Lys149Gln) c.22-2956A>C (n.22-2956A>C) c.3850A>C (p.Lys1284Gln) n.5373A>C | |
| 5 | g.13844860T= | CA1528465021 | DNAH5 | c.5248A= (p.Lys1750=) c.5203A= (p.Lys1735=) n.5455A= c.5356A= (p.Lys1786=) c.4261A= (p.Lys1421=) c.445A= (p.Lys149=) c.22-2956A= (n.22-2956A=) c.3850A= (p.Lys1284=) n.5373A= | |
| 5 | g.13844861A>C | CA359213792 | DNAH5 | c.5247T>G (p.Ile1749Met) c.5202T>G (p.Ile1734Met) n.5454T>G c.5355T>G (p.Ile1785Met) c.4260T>G (p.Ile1420Met) c.444T>G (p.Ile148Met) c.22-2957T>G (n.22-2957T>G) c.3849T>G (p.Ile1283Met) n.5372T>G | |
| 5 | g.13844861A>G | CA443257702 | DNAH5 | c.5247T>C (p.Ile1749=) c.5202T>C (p.Ile1734=) n.5454T>C c.5355T>C (p.Ile1785=) c.4260T>C (p.Ile1420=) c.444T>C (p.Ile148=) c.22-2957T>C (n.22-2957T>C) c.3849T>C (p.Ile1283=) n.5372T>C | |
| 5 | g.13844861A>T | CA443257704 | DNAH5 | c.5247T>A (p.Ile1749=) c.5202T>A (p.Ile1734=) n.5454T>A c.5355T>A (p.Ile1785=) c.4260T>A (p.Ile1420=) c.444T>A (p.Ile148=) c.22-2957T>A (n.22-2957T>A) c.3849T>A (p.Ile1283=) n.5372T>A | |
| 5 | g.13844862A= | CA1528465022 | DNAH5 | c.5246T= (p.Ile1749=) c.5201T= (p.Ile1734=) n.5453T= c.5354T= (p.Ile1785=) c.4259T= (p.Ile1420=) c.443T= (p.Ile148=) c.22-2958T= (n.22-2958T=) c.3848T= (p.Ile1283=) n.5371T= | |
| 5 | g.13844862A>C | CA3203756 | DNAH5 | c.5246T>G (p.Ile1749Ser) c.5201T>G (p.Ile1734Ser) n.5453T>G c.5354T>G (p.Ile1785Ser) c.4259T>G (p.Ile1420Ser) c.443T>G (p.Ile148Ser) c.22-2958T>G (n.22-2958T>G) c.3848T>G (p.Ile1283Ser) n.5371T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844862A>G | CA359213795 | DNAH5 | c.5246T>C (p.Ile1749Thr) c.5201T>C (p.Ile1734Thr) n.5453T>C c.5354T>C (p.Ile1785Thr) c.4259T>C (p.Ile1420Thr) c.443T>C (p.Ile148Thr) c.22-2958T>C (n.22-2958T>C) c.3848T>C (p.Ile1283Thr) n.5371T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13844862A>T | CA359213799 | DNAH5 | c.5246T>A (p.Ile1749Asn) c.5201T>A (p.Ile1734Asn) n.5453T>A c.5354T>A (p.Ile1785Asn) c.4259T>A (p.Ile1420Asn) c.443T>A (p.Ile148Asn) c.22-2958T>A (n.22-2958T>A) c.3848T>A (p.Ile1283Asn) n.5371T>A | |
| 5 | g.13844863T>A | CA359213804 | DNAH5 | c.5245A>T (p.Ile1749Phe) c.5200A>T (p.Ile1734Phe) n.5452A>T c.5353A>T (p.Ile1785Phe) c.4258A>T (p.Ile1420Phe) c.442A>T (p.Ile148Phe) c.22-2959A>T (n.22-2959A>T) c.3847A>T (p.Ile1283Phe) n.5370A>T | |
| 5 | g.13844863T>C | CA359213806 | DNAH5 | c.5245A>G (p.Ile1749Val) c.5200A>G (p.Ile1734Val) n.5452A>G c.5353A>G (p.Ile1785Val) c.4258A>G (p.Ile1420Val) c.442A>G (p.Ile148Val) c.22-2959A>G (n.22-2959A>G) c.3847A>G (p.Ile1283Val) n.5370A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13844863T>G | CA359213820 | DNAH5 | c.5245A>C (p.Ile1749Leu) c.5200A>C (p.Ile1734Leu) n.5452A>C c.5353A>C (p.Ile1785Leu) c.4258A>C (p.Ile1420Leu) c.442A>C (p.Ile148Leu) c.22-2959A>C (n.22-2959A>C) c.3847A>C (p.Ile1283Leu) n.5370A>C | |
| 5 | g.13844863T= | CA1528465023 | DNAH5 | c.5245A= (p.Ile1749=) c.5200A= (p.Ile1734=) n.5452A= c.5353A= (p.Ile1785=) c.4258A= (p.Ile1420=) c.442A= (p.Ile148=) c.22-2959A= (n.22-2959A=) c.3847A= (p.Ile1283=) n.5370A= | |
| 5 | g.13844863dup | CA2673274716 | DNAH5 | c.5245dup (p.Ile1749AsnfsTer2) c.5200dup (p.Ile1734AsnfsTer2) n.5452dup c.5353dup (p.Ile1785AsnfsTer2) c.4258dup (p.Ile1420AsnfsTer2) c.442dup (p.Ile148AsnfsTer2) c.22-2959dup (n.22-2959dup) c.3847dup (p.Ile1283AsnfsTer2) n.5370dup | gnomAD v4 |
| 5 | g.13844864del | CA2499217635 | DNAH5 | c.5244del (p.Asn1748LysfsTer?) c.5199del (p.Asn1733LysfsTer?) n.5451del c.5352del (p.Asn1784LysfsTer?) c.4257del (p.Asn1419LysfsTer?) c.441del (p.Asn147LysfsTer?) c.22-2960del (n.22-2960del) c.3846del (p.Asn1282LysfsTer?) n.5369del | ClinVar dbSNP |
| 5 | g.13844864G>A | CA443257713 | DNAH5 | c.5244C>T (p.Asn1748=) c.5199C>T (p.Asn1733=) n.5451C>T c.5352C>T (p.Asn1784=) c.4257C>T (p.Asn1419=) c.441C>T (p.Asn147=) c.22-2960C>T (n.22-2960C>T) c.3846C>T (p.Asn1282=) n.5369C>T | |
| 5 | g.13844864G>C | CA359213824 | DNAH5 | c.5244C>G (p.Asn1748Lys) c.5199C>G (p.Asn1733Lys) n.5451C>G c.5352C>G (p.Asn1784Lys) c.4257C>G (p.Asn1419Lys) c.441C>G (p.Asn147Lys) c.22-2960C>G (n.22-2960C>G) c.3846C>G (p.Asn1282Lys) n.5369C>G | |
| 5 | g.13844864G>T | CA359213823 | DNAH5 | c.5244C>A (p.Asn1748Lys) c.5199C>A (p.Asn1733Lys) n.5451C>A c.5352C>A (p.Asn1784Lys) c.4257C>A (p.Asn1419Lys) c.441C>A (p.Asn147Lys) c.22-2960C>A (n.22-2960C>A) c.3846C>A (p.Asn1282Lys) n.5369C>A | |
| 5 | g.13844865T>A | CA359213825 | DNAH5 | c.5243A>T (p.Asn1748Ile) c.5198A>T (p.Asn1733Ile) n.5450A>T c.5351A>T (p.Asn1784Ile) c.4256A>T (p.Asn1419Ile) c.440A>T (p.Asn147Ile) c.22-2961A>T (n.22-2961A>T) c.3845A>T (p.Asn1282Ile) n.5368A>T | |
| 5 | g.13844865T>C | CA3203757 | DNAH5 | c.5243A>G (p.Asn1748Ser) c.5198A>G (p.Asn1733Ser) n.5450A>G c.5351A>G (p.Asn1784Ser) c.4256A>G (p.Asn1419Ser) c.440A>G (p.Asn147Ser) c.22-2961A>G (n.22-2961A>G) c.3845A>G (p.Asn1282Ser) n.5368A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844865T>G | CA359213826 | DNAH5 | c.5243A>C (p.Asn1748Thr) c.5198A>C (p.Asn1733Thr) n.5450A>C c.5351A>C (p.Asn1784Thr) c.4256A>C (p.Asn1419Thr) c.440A>C (p.Asn147Thr) c.22-2961A>C (n.22-2961A>C) c.3845A>C (p.Asn1282Thr) n.5368A>C | |
| 5 | g.13844865T= | CA1528465024 | DNAH5 | c.5243A= (p.Asn1748=) c.5198A= (p.Asn1733=) n.5450A= c.5351A= (p.Asn1784=) c.4256A= (p.Asn1419=) c.440A= (p.Asn147=) c.22-2961A= (n.22-2961A=) c.3845A= (p.Asn1282=) n.5368A= | |
| 5 | g.13844866T>A | CA359213829 | DNAH5 | c.5242A>T (p.Asn1748Tyr) c.5197A>T (p.Asn1733Tyr) n.5449A>T c.5350A>T (p.Asn1784Tyr) c.4255A>T (p.Asn1419Tyr) c.439A>T (p.Asn147Tyr) c.22-2962A>T (n.22-2962A>T) c.3844A>T (p.Asn1282Tyr) n.5367A>T | |
| 5 | g.13844866T>C | CA359213843 | DNAH5 | c.5242A>G (p.Asn1748Asp) c.5197A>G (p.Asn1733Asp) n.5449A>G c.5350A>G (p.Asn1784Asp) c.4255A>G (p.Asn1419Asp) c.439A>G (p.Asn147Asp) c.22-2962A>G (n.22-2962A>G) c.3844A>G (p.Asn1282Asp) n.5367A>G | gnomAD v4 |
| 5 | g.13844866T>G | CA359213849 | DNAH5 | c.5242A>C (p.Asn1748His) c.5197A>C (p.Asn1733His) n.5449A>C c.5350A>C (p.Asn1784His) c.4255A>C (p.Asn1419His) c.439A>C (p.Asn147His) c.22-2962A>C (n.22-2962A>C) c.3844A>C (p.Asn1282His) n.5367A>C | |
| 5 | g.13844867G>A | CA443257724 | DNAH5 | c.5241C>T (p.Asp1747=) c.5196C>T (p.Asp1732=) n.5448C>T c.5349C>T (p.Asp1783=) c.4254C>T (p.Asp1418=) c.438C>T (p.Asp146=) c.22-2963C>T (n.22-2963C>T) c.3843C>T (p.Asp1281=) n.5366C>T | |
| 5 | g.13844867G>C | CA359213850 | DNAH5 | c.5241C>G (p.Asp1747Glu) c.5196C>G (p.Asp1732Glu) n.5448C>G c.5349C>G (p.Asp1783Glu) c.4254C>G (p.Asp1418Glu) c.438C>G (p.Asp146Glu) c.22-2963C>G (n.22-2963C>G) c.3843C>G (p.Asp1281Glu) n.5366C>G | |
| 5 | g.13844867G>T | CA359213851 | DNAH5 | c.5241C>A (p.Asp1747Glu) c.5196C>A (p.Asp1732Glu) n.5448C>A c.5349C>A (p.Asp1783Glu) c.4254C>A (p.Asp1418Glu) c.438C>A (p.Asp146Glu) c.22-2963C>A (n.22-2963C>A) c.3843C>A (p.Asp1281Glu) n.5366C>A | |
| 5 | g.13844868T>A | CA359213852 | DNAH5 | c.5240A>T (p.Asp1747Val) c.5195A>T (p.Asp1732Val) n.5447A>T c.5348A>T (p.Asp1783Val) c.4253A>T (p.Asp1418Val) c.437A>T (p.Asp146Val) c.22-2964A>T (n.22-2964A>T) c.3842A>T (p.Asp1281Val) n.5365A>T | |
| 5 | g.13844868T>C | CA359213854 | DNAH5 | c.5240A>G (p.Asp1747Gly) c.5195A>G (p.Asp1732Gly) n.5447A>G c.5348A>G (p.Asp1783Gly) c.4253A>G (p.Asp1418Gly) c.437A>G (p.Asp146Gly) c.22-2964A>G (n.22-2964A>G) c.3842A>G (p.Asp1281Gly) n.5365A>G | |
| 5 | g.13844868T>G | CA359213858 | DNAH5 | c.5240A>C (p.Asp1747Ala) c.5195A>C (p.Asp1732Ala) n.5447A>C c.5348A>C (p.Asp1783Ala) c.4253A>C (p.Asp1418Ala) c.437A>C (p.Asp146Ala) c.22-2964A>C (n.22-2964A>C) c.3842A>C (p.Asp1281Ala) n.5365A>C | |
| 5 | g.13844869C>A | CA359213861 | DNAH5 | c.5239G>T (p.Asp1747Tyr) c.5194G>T (p.Asp1732Tyr) n.5446G>T c.5347G>T (p.Asp1783Tyr) c.4252G>T (p.Asp1418Tyr) c.436G>T (p.Asp146Tyr) c.22-2965G>T (n.22-2965G>T) c.3841G>T (p.Asp1281Tyr) n.5364G>T | |
| 5 | g.13844869C= | CA1528465025 | DNAH5 | c.5239G= (p.Asp1747=) c.5194G= (p.Asp1732=) n.5446G= c.5347G= (p.Asp1783=) c.4252G= (p.Asp1418=) c.436G= (p.Asp146=) c.22-2965G= (n.22-2965G=) c.3841G= (p.Asp1281=) n.5364G= | |
| 5 | g.13844869C>G | CA113954553 | DNAH5 | c.5239G>C (p.Asp1747His) c.5194G>C (p.Asp1732His) n.5446G>C c.5347G>C (p.Asp1783His) c.4252G>C (p.Asp1418His) c.436G>C (p.Asp146His) c.22-2965G>C (n.22-2965G>C) c.3841G>C (p.Asp1281His) n.5364G>C | dbSNP gnomAD v4 |
| 5 | g.13844869C>T | CA359213862 | DNAH5 | c.5239G>A (p.Asp1747Asn) c.5194G>A (p.Asp1732Asn) n.5446G>A c.5347G>A (p.Asp1783Asn) c.4252G>A (p.Asp1418Asn) c.436G>A (p.Asp146Asn) c.22-2965G>A (n.22-2965G>A) c.3841G>A (p.Asp1281Asn) n.5364G>A | |
| 5 | g.13844870A>C | CA359213863 | DNAH5 | c.5238T>G (p.Phe1746Leu) c.5193T>G (p.Phe1731Leu) n.5445T>G c.5346T>G (p.Phe1782Leu) c.4251T>G (p.Phe1417Leu) c.435T>G (p.Phe145Leu) c.22-2966T>G (n.22-2966T>G) c.3840T>G (p.Phe1280Leu) n.5363T>G | |
| 5 | g.13844870A>G | CA443257730 | DNAH5 | c.5238T>C (p.Phe1746=) c.5193T>C (p.Phe1731=) n.5445T>C c.5346T>C (p.Phe1782=) c.4251T>C (p.Phe1417=) c.435T>C (p.Phe145=) c.22-2966T>C (n.22-2966T>C) c.3840T>C (p.Phe1280=) n.5363T>C | |
| 5 | g.13844870A>T | CA359213864 | DNAH5 | c.5238T>A (p.Phe1746Leu) c.5193T>A (p.Phe1731Leu) n.5445T>A c.5346T>A (p.Phe1782Leu) c.4251T>A (p.Phe1417Leu) c.435T>A (p.Phe145Leu) c.22-2966T>A (n.22-2966T>A) c.3840T>A (p.Phe1280Leu) n.5363T>A | |
| 5 | g.13844871A>C | CA359213865 | DNAH5 | c.5237T>G (p.Phe1746Cys) c.5192T>G (p.Phe1731Cys) n.5444T>G c.5345T>G (p.Phe1782Cys) c.4250T>G (p.Phe1417Cys) c.434T>G (p.Phe145Cys) c.22-2967T>G (n.22-2967T>G) c.3839T>G (p.Phe1280Cys) n.5362T>G | |
| 5 | g.13844871A>G | CA359213868 | DNAH5 | c.5237T>C (p.Phe1746Ser) c.5192T>C (p.Phe1731Ser) n.5444T>C c.5345T>C (p.Phe1782Ser) c.4250T>C (p.Phe1417Ser) c.434T>C (p.Phe145Ser) c.22-2967T>C (n.22-2967T>C) c.3839T>C (p.Phe1280Ser) n.5362T>C | |
| 5 | g.13844871A>T | CA359213869 | DNAH5 | c.5237T>A (p.Phe1746Tyr) c.5192T>A (p.Phe1731Tyr) n.5444T>A c.5345T>A (p.Phe1782Tyr) c.4250T>A (p.Phe1417Tyr) c.434T>A (p.Phe145Tyr) c.22-2967T>A (n.22-2967T>A) c.3839T>A (p.Phe1280Tyr) n.5362T>A | |
| 5 | g.13844872A>C | CA359213871 | DNAH5 | c.5236T>G (p.Phe1746Val) c.5191T>G (p.Phe1731Val) n.5443T>G c.5344T>G (p.Phe1782Val) c.4249T>G (p.Phe1417Val) c.433T>G (p.Phe145Val) c.22-2968T>G (n.22-2968T>G) c.3838T>G (p.Phe1280Val) n.5361T>G | |
| 5 | g.13844872A>G | CA359213872 | DNAH5 | c.5236T>C (p.Phe1746Leu) c.5191T>C (p.Phe1731Leu) n.5443T>C c.5344T>C (p.Phe1782Leu) c.4249T>C (p.Phe1417Leu) c.433T>C (p.Phe145Leu) c.22-2968T>C (n.22-2968T>C) c.3838T>C (p.Phe1280Leu) n.5361T>C | |
| 5 | g.13844872A>T | CA359213873 | DNAH5 | c.5236T>A (p.Phe1746Ile) c.5191T>A (p.Phe1731Ile) n.5443T>A c.5344T>A (p.Phe1782Ile) c.4249T>A (p.Phe1417Ile) c.433T>A (p.Phe145Ile) c.22-2968T>A (n.22-2968T>A) c.3838T>A (p.Phe1280Ile) n.5361T>A | |
| 5 | g.13844873C>A | CA443257737 | DNAH5 | c.5235G>T (p.Val1745=) c.5190G>T (p.Val1730=) n.5442G>T c.5343G>T (p.Val1781=) c.4248G>T (p.Val1416=) c.432G>T (p.Val144=) c.22-2969G>T (n.22-2969G>T) c.3837G>T (p.Val1279=) n.5360G>T | |
| 5 | g.13844873C>G | CA443257739 | DNAH5 | c.5235G>C (p.Val1745=) c.5190G>C (p.Val1730=) n.5442G>C c.5343G>C (p.Val1781=) c.4248G>C (p.Val1416=) c.432G>C (p.Val144=) c.22-2969G>C (n.22-2969G>C) c.3837G>C (p.Val1279=) n.5360G>C | ClinVar gnomAD v4 |
| 5 | g.13844873C>T | CA443257740 | DNAH5 | c.5235G>A (p.Val1745=) c.5190G>A (p.Val1730=) n.5442G>A c.5343G>A (p.Val1781=) c.4248G>A (p.Val1416=) c.432G>A (p.Val144=) c.22-2969G>A (n.22-2969G>A) c.3837G>A (p.Val1279=) n.5360G>A | |
| 5 | g.13844874A>C | CA359213874 | DNAH5 | c.5234T>G (p.Val1745Gly) c.5189T>G (p.Val1730Gly) n.5441T>G c.5342T>G (p.Val1781Gly) c.4247T>G (p.Val1416Gly) c.431T>G (p.Val144Gly) c.22-2970T>G (n.22-2970T>G) c.3836T>G (p.Val1279Gly) n.5359T>G | |
| 5 | g.13844874A>G | CA359213875 | DNAH5 | c.5234T>C (p.Val1745Ala) c.5189T>C (p.Val1730Ala) n.5441T>C c.5342T>C (p.Val1781Ala) c.4247T>C (p.Val1416Ala) c.431T>C (p.Val144Ala) c.22-2970T>C (n.22-2970T>C) c.3836T>C (p.Val1279Ala) n.5359T>C | |
| 5 | g.13844874A>T | CA359213877 | DNAH5 | c.5234T>A (p.Val1745Glu) c.5189T>A (p.Val1730Glu) n.5441T>A c.5342T>A (p.Val1781Glu) c.4247T>A (p.Val1416Glu) c.431T>A (p.Val144Glu) c.22-2970T>A (n.22-2970T>A) c.3836T>A (p.Val1279Glu) n.5359T>A | |
| 5 | g.13844875C>A | CA359213881 | DNAH5 | c.5233G>T (p.Val1745Leu) c.5188G>T (p.Val1730Leu) n.5440G>T c.5341G>T (p.Val1781Leu) c.4246G>T (p.Val1416Leu) c.430G>T (p.Val144Leu) c.22-2971G>T (n.22-2971G>T) c.3835G>T (p.Val1279Leu) n.5358G>T | |
| 5 | g.13844875C>G | CA359213883 | DNAH5 | c.5233G>C (p.Val1745Leu) c.5188G>C (p.Val1730Leu) n.5440G>C c.5341G>C (p.Val1781Leu) c.4246G>C (p.Val1416Leu) c.430G>C (p.Val144Leu) c.22-2971G>C (n.22-2971G>C) c.3835G>C (p.Val1279Leu) n.5358G>C | |
| 5 | g.13844875C>T | CA359213886 | DNAH5 | c.5233G>A (p.Val1745Met) c.5188G>A (p.Val1730Met) n.5440G>A c.5341G>A (p.Val1781Met) c.4246G>A (p.Val1416Met) c.430G>A (p.Val144Met) c.22-2971G>A (n.22-2971G>A) c.3835G>A (p.Val1279Met) n.5358G>A | |
| 5 | g.13844876A>C | CA359213897 | DNAH5 | c.5232T>G (p.Asn1744Lys) c.5187T>G (p.Asn1729Lys) n.5439T>G c.5340T>G (p.Asn1780Lys) c.4245T>G (p.Asn1415Lys) c.429T>G (p.Asn143Lys) c.22-2972T>G (n.22-2972T>G) c.3834T>G (p.Asn1278Lys) n.5357T>G | |
| 5 | g.13844876A>G | CA443257746 | DNAH5 | c.5232T>C (p.Asn1744=) c.5187T>C (p.Asn1729=) n.5439T>C c.5340T>C (p.Asn1780=) c.4245T>C (p.Asn1415=) c.429T>C (p.Asn143=) c.22-2972T>C (n.22-2972T>C) c.3834T>C (p.Asn1278=) n.5357T>C | dbSNP |
| 5 | g.13844876A>T | CA359213899 | DNAH5 | c.5232T>A (p.Asn1744Lys) c.5187T>A (p.Asn1729Lys) n.5439T>A c.5340T>A (p.Asn1780Lys) c.4245T>A (p.Asn1415Lys) c.429T>A (p.Asn143Lys) c.22-2972T>A (n.22-2972T>A) c.3834T>A (p.Asn1278Lys) n.5357T>A | |
| 5 | g.13844877T>A | CA359213902 | DNAH5 | c.5231A>T (p.Asn1744Ile) c.5186A>T (p.Asn1729Ile) n.5438A>T c.5339A>T (p.Asn1780Ile) c.4244A>T (p.Asn1415Ile) c.428A>T (p.Asn143Ile) c.22-2973A>T (n.22-2973A>T) c.3833A>T (p.Asn1278Ile) n.5356A>T | |
| 5 | g.13844877T>C | CA359213911 | DNAH5 | c.5231A>G (p.Asn1744Ser) c.5186A>G (p.Asn1729Ser) n.5438A>G c.5339A>G (p.Asn1780Ser) c.4244A>G (p.Asn1415Ser) c.428A>G (p.Asn143Ser) c.22-2973A>G (n.22-2973A>G) c.3833A>G (p.Asn1278Ser) n.5356A>G | dbSNP gnomAD v4 |
| 5 | g.13844877T>G | CA359213904 | DNAH5 | c.5231A>C (p.Asn1744Thr) c.5186A>C (p.Asn1729Thr) n.5438A>C c.5339A>C (p.Asn1780Thr) c.4244A>C (p.Asn1415Thr) c.428A>C (p.Asn143Thr) c.22-2973A>C (n.22-2973A>C) c.3833A>C (p.Asn1278Thr) n.5356A>C | |
| 5 | g.13844877T= | CA1528465026 | DNAH5 | c.5231A= (p.Asn1744=) c.5186A= (p.Asn1729=) n.5438A= c.5339A= (p.Asn1780=) c.4244A= (p.Asn1415=) c.428A= (p.Asn143=) c.22-2973A= (n.22-2973A=) c.3833A= (p.Asn1278=) n.5356A= | |
| 5 | g.13844878T>A | CA359213917 | DNAH5 | c.5230A>T (p.Asn1744Tyr) c.5185A>T (p.Asn1729Tyr) n.5437A>T c.5338A>T (p.Asn1780Tyr) c.4243A>T (p.Asn1415Tyr) c.427A>T (p.Asn143Tyr) c.22-2974A>T (n.22-2974A>T) c.3832A>T (p.Asn1278Tyr) n.5355A>T | |
| 5 | g.13844878T>C | CA359213920 | DNAH5 | c.5230A>G (p.Asn1744Asp) c.5185A>G (p.Asn1729Asp) n.5437A>G c.5338A>G (p.Asn1780Asp) c.4243A>G (p.Asn1415Asp) c.427A>G (p.Asn143Asp) c.22-2974A>G (n.22-2974A>G) c.3832A>G (p.Asn1278Asp) n.5355A>G | |
| 5 | g.13844878T>G | CA359213923 | DNAH5 | c.5230A>C (p.Asn1744His) c.5185A>C (p.Asn1729His) n.5437A>C c.5338A>C (p.Asn1780His) c.4243A>C (p.Asn1415His) c.427A>C (p.Asn143His) c.22-2974A>C (n.22-2974A>C) c.3832A>C (p.Asn1278His) n.5355A>C | |
| 5 | g.13844879C>A | CA443257757 | DNAH5 | c.5229G>T (p.Leu1743=) c.5184G>T (p.Leu1728=) n.5436G>T c.5337G>T (p.Leu1779=) c.4242G>T (p.Leu1414=) c.426G>T (p.Leu142=) c.22-2975G>T (n.22-2975G>T) c.3831G>T (p.Leu1277=) n.5354G>T | |
| 5 | g.13844879C>G | CA443257760 | DNAH5 | c.5229G>C (p.Leu1743=) c.5184G>C (p.Leu1728=) n.5436G>C c.5337G>C (p.Leu1779=) c.4242G>C (p.Leu1414=) c.426G>C (p.Leu142=) c.22-2975G>C (n.22-2975G>C) c.3831G>C (p.Leu1277=) n.5354G>C | |
| 5 | g.13844879C>T | CA443257763 | DNAH5 | c.5229G>A (p.Leu1743=) c.5184G>A (p.Leu1728=) n.5436G>A c.5337G>A (p.Leu1779=) c.4242G>A (p.Leu1414=) c.426G>A (p.Leu142=) c.22-2975G>A (n.22-2975G>A) c.3831G>A (p.Leu1277=) n.5354G>A | |
| 5 | g.13844880A>C | CA359213924 | DNAH5 | c.5228T>G (p.Leu1743Arg) c.5183T>G (p.Leu1728Arg) n.5435T>G c.5336T>G (p.Leu1779Arg) c.4241T>G (p.Leu1414Arg) c.425T>G (p.Leu142Arg) c.22-2976T>G (n.22-2976T>G) c.3830T>G (p.Leu1277Arg) n.5353T>G | |
| 5 | g.13844880A>G | CA359213938 | DNAH5 | c.5228T>C (p.Leu1743Pro) c.5183T>C (p.Leu1728Pro) n.5435T>C c.5336T>C (p.Leu1779Pro) c.4241T>C (p.Leu1414Pro) c.425T>C (p.Leu142Pro) c.22-2976T>C (n.22-2976T>C) c.3830T>C (p.Leu1277Pro) n.5353T>C | gnomAD v4 |
| 5 | g.13844880A>T | CA359213939 | DNAH5 | c.5228T>A (p.Leu1743Gln) c.5183T>A (p.Leu1728Gln) n.5435T>A c.5336T>A (p.Leu1779Gln) c.4241T>A (p.Leu1414Gln) c.425T>A (p.Leu142Gln) c.22-2976T>A (n.22-2976T>A) c.3830T>A (p.Leu1277Gln) n.5353T>A | |
| 5 | g.13844881G>A | CA443257767 | DNAH5 | c.5227C>T (p.Leu1743=) c.5182C>T (p.Leu1728=) n.5434C>T c.5335C>T (p.Leu1779=) c.4240C>T (p.Leu1414=) c.424C>T (p.Leu142=) c.22-2977C>T (n.22-2977C>T) c.3829C>T (p.Leu1277=) n.5352C>T | gnomAD v4 |
| 5 | g.13844881G>C | CA359213942 | DNAH5 | c.5227C>G (p.Leu1743Val) c.5182C>G (p.Leu1728Val) n.5434C>G c.5335C>G (p.Leu1779Val) c.4240C>G (p.Leu1414Val) c.424C>G (p.Leu142Val) c.22-2977C>G (n.22-2977C>G) c.3829C>G (p.Leu1277Val) n.5352C>G | |
| 5 | g.13844881G>T | CA359213944 | DNAH5 | c.5227C>A (p.Leu1743Met) c.5182C>A (p.Leu1728Met) n.5434C>A c.5335C>A (p.Leu1779Met) c.4240C>A (p.Leu1414Met) c.424C>A (p.Leu142Met) c.22-2977C>A (n.22-2977C>A) c.3829C>A (p.Leu1277Met) n.5352C>A | |
| 5 | g.13844882C>A | CA359213946 | DNAH5 | c.5226G>T (p.Leu1742Phe) c.5181G>T (p.Leu1727Phe) n.5433G>T c.5334G>T (p.Leu1778Phe) c.4239G>T (p.Leu1413Phe) c.423G>T (p.Leu141Phe) c.22-2978G>T (n.22-2978G>T) c.3828G>T (p.Leu1276Phe) n.5351G>T | |
| 5 | g.13844882C= | CA1528465027 | DNAH5 | c.5226G= (p.Leu1742=) c.5181G= (p.Leu1727=) n.5433G= c.5334G= (p.Leu1778=) c.4239G= (p.Leu1413=) c.423G= (p.Leu141=) c.22-2978G= (n.22-2978G=) c.3828G= (p.Leu1276=) n.5351G= | |
| 5 | g.13844882C>G | CA359213947 | DNAH5 | c.5226G>C (p.Leu1742Phe) c.5181G>C (p.Leu1727Phe) n.5433G>C c.5334G>C (p.Leu1778Phe) c.4239G>C (p.Leu1413Phe) c.423G>C (p.Leu141Phe) c.22-2978G>C (n.22-2978G>C) c.3828G>C (p.Leu1276Phe) n.5351G>C | |
| 5 | g.13844882C>T | CA3203758 | DNAH5 | c.5226G>A (p.Leu1742=) c.5181G>A (p.Leu1727=) n.5433G>A c.5334G>A (p.Leu1778=) c.4239G>A (p.Leu1413=) c.423G>A (p.Leu141=) c.22-2978G>A (n.22-2978G>A) c.3828G>A (p.Leu1276=) n.5351G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844883A>C | CA359213956 | DNAH5 | c.5225T>G (p.Leu1742Trp) c.5180T>G (p.Leu1727Trp) n.5432T>G c.5333T>G (p.Leu1778Trp) c.4238T>G (p.Leu1413Trp) c.422T>G (p.Leu141Trp) c.22-2979T>G (n.22-2979T>G) c.3827T>G (p.Leu1276Trp) n.5350T>G | |
| 5 | g.13844883A>G | CA359213954 | DNAH5 | c.5225T>C (p.Leu1742Ser) c.5180T>C (p.Leu1727Ser) n.5432T>C c.5333T>C (p.Leu1778Ser) c.4238T>C (p.Leu1413Ser) c.422T>C (p.Leu141Ser) c.22-2979T>C (n.22-2979T>C) c.3827T>C (p.Leu1276Ser) n.5350T>C | |
| 5 | g.13844883A>T | CA359213955 | DNAH5 | c.5225T>A (p.Leu1742Ter) c.5180T>A (p.Leu1727Ter) n.5432T>A c.5333T>A (p.Leu1778Ter) c.4238T>A (p.Leu1413Ter) c.422T>A (p.Leu141Ter) c.22-2979T>A (n.22-2979T>A) c.3827T>A (p.Leu1276Ter) n.5350T>A | |
| 5 | g.13844884A= | CA1528465028 | DNAH5 | c.5224T= (p.Leu1742=) c.5179T= (p.Leu1727=) n.5431T= c.5332T= (p.Leu1778=) c.4237T= (p.Leu1413=) c.421T= (p.Leu141=) c.22-2980T= (n.22-2980T=) c.3826T= (p.Leu1276=) n.5349T= | |
| 5 | g.13844884A>C | CA359213957 | DNAH5 | c.5224T>G (p.Leu1742Val) c.5179T>G (p.Leu1727Val) n.5431T>G c.5332T>G (p.Leu1778Val) c.4237T>G (p.Leu1413Val) c.421T>G (p.Leu141Val) c.22-2980T>G (n.22-2980T>G) c.3826T>G (p.Leu1276Val) n.5349T>G | |
| 5 | g.13844884A>G | CA3203759 | DNAH5 | c.5224T>C (p.Leu1742=) c.5179T>C (p.Leu1727=) n.5431T>C c.5332T>C (p.Leu1778=) c.4237T>C (p.Leu1413=) c.421T>C (p.Leu141=) c.22-2980T>C (n.22-2980T>C) c.3826T>C (p.Leu1276=) n.5349T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844884A>T | CA359213959 | DNAH5 | c.5224T>A (p.Leu1742Met) c.5179T>A (p.Leu1727Met) n.5431T>A c.5332T>A (p.Leu1778Met) c.4237T>A (p.Leu1413Met) c.421T>A (p.Leu141Met) c.22-2980T>A (n.22-2980T>A) c.3826T>A (p.Leu1276Met) n.5349T>A | |
| 5 | g.13844885A>C | CA359213961 | DNAH5 | c.5223T>G (p.His1741Gln) c.5178T>G (p.His1726Gln) n.5430T>G c.5331T>G (p.His1777Gln) c.4236T>G (p.His1412Gln) c.420T>G (p.His140Gln) c.22-2981T>G (n.22-2981T>G) c.3825T>G (p.His1275Gln) n.5348T>G | |
| 5 | g.13844885A>G | CA443257788 | DNAH5 | c.5223T>C (p.His1741=) c.5178T>C (p.His1726=) n.5430T>C c.5331T>C (p.His1777=) c.4236T>C (p.His1412=) c.420T>C (p.His140=) c.22-2981T>C (n.22-2981T>C) c.3825T>C (p.His1275=) n.5348T>C | ClinVar |
| 5 | g.13844885A>T | CA359213970 | DNAH5 | c.5223T>A (p.His1741Gln) c.5178T>A (p.His1726Gln) n.5430T>A c.5331T>A (p.His1777Gln) c.4236T>A (p.His1412Gln) c.420T>A (p.His140Gln) c.22-2981T>A (n.22-2981T>A) c.3825T>A (p.His1275Gln) n.5348T>A | |
| 5 | g.13844886T>A | CA359213972 | DNAH5 | c.5222A>T (p.His1741Leu) c.5177A>T (p.His1726Leu) n.5429A>T c.5330A>T (p.His1777Leu) c.4235A>T (p.His1412Leu) c.419A>T (p.His140Leu) c.22-2982A>T (n.22-2982A>T) c.3824A>T (p.His1275Leu) n.5347A>T | |
| 5 | g.13844886T>C | CA359213975 | DNAH5 | c.5222A>G (p.His1741Arg) c.5177A>G (p.His1726Arg) n.5429A>G c.5330A>G (p.His1777Arg) c.4235A>G (p.His1412Arg) c.419A>G (p.His140Arg) c.22-2982A>G (n.22-2982A>G) c.3824A>G (p.His1275Arg) n.5347A>G | gnomAD v4 |
| 5 | g.13844886T>G | CA359213981 | DNAH5 | c.5222A>C (p.His1741Pro) c.5177A>C (p.His1726Pro) n.5429A>C c.5330A>C (p.His1777Pro) c.4235A>C (p.His1412Pro) c.419A>C (p.His140Pro) c.22-2982A>C (n.22-2982A>C) c.3824A>C (p.His1275Pro) n.5347A>C | |
| 5 | g.13844887G>A | CA359213985 | DNAH5 | c.5221C>T (p.His1741Tyr) c.5176C>T (p.His1726Tyr) n.5428C>T c.5329C>T (p.His1777Tyr) c.4234C>T (p.His1412Tyr) c.418C>T (p.His140Tyr) c.22-2983C>T (n.22-2983C>T) c.3823C>T (p.His1275Tyr) n.5346C>T | gnomAD v4 |
| 5 | g.13844887G>C | CA359213987 | DNAH5 | c.5221C>G (p.His1741Asp) c.5176C>G (p.His1726Asp) n.5428C>G c.5329C>G (p.His1777Asp) c.4234C>G (p.His1412Asp) c.418C>G (p.His140Asp) c.22-2983C>G (n.22-2983C>G) c.3823C>G (p.His1275Asp) n.5346C>G | |
| 5 | g.13844887G>T | CA359213997 | DNAH5 | c.5221C>A (p.His1741Asn) c.5176C>A (p.His1726Asn) n.5428C>A c.5329C>A (p.His1777Asn) c.4234C>A (p.His1412Asn) c.418C>A (p.His140Asn) c.22-2983C>A (n.22-2983C>A) c.3823C>A (p.His1275Asn) n.5346C>A | gnomAD v4 |
| 5 | g.13844889del | CA2673274717 | DNAH5 | c.5221del (p.His1741IlefsTer3) c.5176del (p.His1726IlefsTer3) n.5428del c.5329del (p.His1777IlefsTer3) c.4234del (p.His1412IlefsTer3) c.418del (p.His140IlefsTer3) c.22-2983del (n.22-2983del) c.3823del (p.His1275IlefsTer3) n.5346del | ClinVar gnomAD v4 |
| 5 | g.13844888G>A | CA443257802 | DNAH5 | c.5220C>T (p.Ala1740=) c.5175C>T (p.Ala1725=) n.5427C>T c.5328C>T (p.Ala1776=) c.4233C>T (p.Ala1411=) c.417C>T (p.Ala139=) c.22-2984C>T (n.22-2984C>T) c.3822C>T (p.Ala1274=) n.5345C>T | |
| 5 | g.13844888G>C | CA443257800 | DNAH5 | c.5220C>G (p.Ala1740=) c.5175C>G (p.Ala1725=) n.5427C>G c.5328C>G (p.Ala1776=) c.4233C>G (p.Ala1411=) c.417C>G (p.Ala139=) c.22-2984C>G (n.22-2984C>G) c.3822C>G (p.Ala1274=) n.5345C>G | |
| 5 | g.13844888G>T | CA443257797 | DNAH5 | c.5220C>A (p.Ala1740=) c.5175C>A (p.Ala1725=) n.5427C>A c.5328C>A (p.Ala1776=) c.4233C>A (p.Ala1411=) c.417C>A (p.Ala139=) c.22-2984C>A (n.22-2984C>A) c.3822C>A (p.Ala1274=) n.5345C>A | |
| 5 | g.13844889G>A | CA359213999 | DNAH5 | c.5219C>T (p.Ala1740Val) c.5174C>T (p.Ala1725Val) n.5426C>T c.5327C>T (p.Ala1776Val) c.4232C>T (p.Ala1411Val) c.416C>T (p.Ala139Val) c.22-2985C>T (n.22-2985C>T) c.3821C>T (p.Ala1274Val) n.5344C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13844889G>C | CA359214000 | DNAH5 | c.5219C>G (p.Ala1740Gly) c.5174C>G (p.Ala1725Gly) n.5426C>G c.5327C>G (p.Ala1776Gly) c.4232C>G (p.Ala1411Gly) c.416C>G (p.Ala139Gly) c.22-2985C>G (n.22-2985C>G) c.3821C>G (p.Ala1274Gly) n.5344C>G | |
| 5 | g.13844889G= | CA1528465029 | DNAH5 | c.5219C= (p.Ala1740=) c.5174C= (p.Ala1725=) n.5426C= c.5327C= (p.Ala1776=) c.4232C= (p.Ala1411=) c.416C= (p.Ala139=) c.22-2985C= (n.22-2985C=) c.3821C= (p.Ala1274=) n.5344C= | |
| 5 | g.13844889G>T | CA359213998 | DNAH5 | c.5219C>A (p.Ala1740Asp) c.5174C>A (p.Ala1725Asp) n.5426C>A c.5327C>A (p.Ala1776Asp) c.4232C>A (p.Ala1411Asp) c.416C>A (p.Ala139Asp) c.22-2985C>A (n.22-2985C>A) c.3821C>A (p.Ala1274Asp) n.5344C>A | |
| 5 | g.13844890C>A | CA3203760 | DNAH5 | c.5218G>T (p.Ala1740Ser) c.5173G>T (p.Ala1725Ser) n.5425G>T c.5326G>T (p.Ala1776Ser) c.4231G>T (p.Ala1411Ser) c.415G>T (p.Ala139Ser) c.22-2986G>T (n.22-2986G>T) c.3820G>T (p.Ala1274Ser) n.5343G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844890C= | CA1528465030 | DNAH5 | c.5218G= (p.Ala1740=) c.5173G= (p.Ala1725=) n.5425G= c.5326G= (p.Ala1776=) c.4231G= (p.Ala1411=) c.415G= (p.Ala139=) c.22-2986G= (n.22-2986G=) c.3820G= (p.Ala1274=) n.5343G= | |
| 5 | g.13844890C>G | CA359214003 | DNAH5 | c.5218G>C (p.Ala1740Pro) c.5173G>C (p.Ala1725Pro) n.5425G>C c.5326G>C (p.Ala1776Pro) c.4231G>C (p.Ala1411Pro) c.415G>C (p.Ala139Pro) c.22-2986G>C (n.22-2986G>C) c.3820G>C (p.Ala1274Pro) n.5343G>C | gnomAD v4 |
| 5 | g.13844890C>T | CA359214006 | DNAH5 | c.5218G>A (p.Ala1740Thr) c.5173G>A (p.Ala1725Thr) n.5425G>A c.5326G>A (p.Ala1776Thr) c.4231G>A (p.Ala1411Thr) c.415G>A (p.Ala139Thr) c.22-2986G>A (n.22-2986G>A) c.3820G>A (p.Ala1274Thr) n.5343G>A | COSMIC |
| 5 | g.13844891C>A | CA359214008 | DNAH5 | c.5217G>T (p.Gln1739His) c.5172G>T (p.Gln1724His) n.5424G>T c.5325G>T (p.Gln1775His) c.4230G>T (p.Gln1410His) c.414G>T (p.Gln138His) c.22-2987G>T (n.22-2987G>T) c.3819G>T (p.Gln1273His) n.5342G>T | |
| 5 | g.13844891C>G | CA359214009 | DNAH5 | c.5217G>C (p.Gln1739His) c.5172G>C (p.Gln1724His) n.5424G>C c.5325G>C (p.Gln1775His) c.4230G>C (p.Gln1410His) c.414G>C (p.Gln138His) c.22-2987G>C (n.22-2987G>C) c.3819G>C (p.Gln1273His) n.5342G>C | |
| 5 | g.13844891C>T | CA443257809 | DNAH5 | c.5217G>A (p.Gln1739=) c.5172G>A (p.Gln1724=) n.5424G>A c.5325G>A (p.Gln1775=) c.4230G>A (p.Gln1410=) c.414G>A (p.Gln138=) c.22-2987G>A (n.22-2987G>A) c.3819G>A (p.Gln1273=) n.5342G>A | |
| 5 | g.13844892T>A | CA359214011 | DNAH5 | c.5216A>T (p.Gln1739Leu) c.5171A>T (p.Gln1724Leu) n.5423A>T c.5324A>T (p.Gln1775Leu) c.4229A>T (p.Gln1410Leu) c.413A>T (p.Gln138Leu) c.22-2988A>T (n.22-2988A>T) c.3818A>T (p.Gln1273Leu) n.5341A>T | |
| 5 | g.13844892T>C | CA359214013 | DNAH5 | c.5216A>G (p.Gln1739Arg) c.5171A>G (p.Gln1724Arg) n.5423A>G c.5324A>G (p.Gln1775Arg) c.4229A>G (p.Gln1410Arg) c.413A>G (p.Gln138Arg) c.22-2988A>G (n.22-2988A>G) c.3818A>G (p.Gln1273Arg) n.5341A>G | dbSNP gnomAD v2 |
| 5 | g.13844892T>G | CA359214016 | DNAH5 | c.5216A>C (p.Gln1739Pro) c.5171A>C (p.Gln1724Pro) n.5423A>C c.5324A>C (p.Gln1775Pro) c.4229A>C (p.Gln1410Pro) c.413A>C (p.Gln138Pro) c.22-2988A>C (n.22-2988A>C) c.3818A>C (p.Gln1273Pro) n.5341A>C | |
| 5 | g.13844892T= | CA1528465031 | DNAH5 | c.5216A= (p.Gln1739=) c.5171A= (p.Gln1724=) n.5423A= c.5324A= (p.Gln1775=) c.4229A= (p.Gln1410=) c.413A= (p.Gln138=) c.22-2988A= (n.22-2988A=) c.3818A= (p.Gln1273=) n.5341A= | |
| 5 | g.13844893G>A | CA113954563 | DNAH5 | c.5215C>T (p.Gln1739Ter) c.5170C>T (p.Gln1724Ter) n.5422C>T c.5323C>T (p.Gln1775Ter) c.4228C>T (p.Gln1410Ter) c.412C>T (p.Gln138Ter) c.22-2989C>T (n.22-2989C>T) c.3817C>T (p.Gln1273Ter) n.5340C>T | dbSNP |
| 5 | g.13844893G>C | CA359214028 | DNAH5 | c.5215C>G (p.Gln1739Glu) c.5170C>G (p.Gln1724Glu) n.5422C>G c.5323C>G (p.Gln1775Glu) c.4228C>G (p.Gln1410Glu) c.412C>G (p.Gln138Glu) c.22-2989C>G (n.22-2989C>G) c.3817C>G (p.Gln1273Glu) n.5340C>G | |
| 5 | g.13844893G= | CA1528465032 | DNAH5 | c.5215C= (p.Gln1739=) c.5170C= (p.Gln1724=) n.5422C= c.5323C= (p.Gln1775=) c.4228C= (p.Gln1410=) c.412C= (p.Gln138=) c.22-2989C= (n.22-2989C=) c.3817C= (p.Gln1273=) n.5340C= | |
| 5 | g.13844893G>T | CA359214032 | DNAH5 | c.5215C>A (p.Gln1739Lys) c.5170C>A (p.Gln1724Lys) n.5422C>A c.5323C>A (p.Gln1775Lys) c.4228C>A (p.Gln1410Lys) c.412C>A (p.Gln138Lys) c.22-2989C>A (n.22-2989C>A) c.3817C>A (p.Gln1273Lys) n.5340C>A | |
| 5 | g.13844894T>A | CA443257819 | DNAH5 | c.5214A>T (p.Ile1738=) c.5169A>T (p.Ile1723=) n.5421A>T c.5322A>T (p.Ile1774=) c.4227A>T (p.Ile1409=) c.411A>T (p.Ile137=) c.22-2990A>T (n.22-2990A>T) c.3816A>T (p.Ile1272=) n.5339A>T | gnomAD v4 |
| 5 | g.13844894T>C | CA359214034 | DNAH5 | c.5214A>G (p.Ile1738Met) c.5169A>G (p.Ile1723Met) n.5421A>G c.5322A>G (p.Ile1774Met) c.4227A>G (p.Ile1409Met) c.411A>G (p.Ile137Met) c.22-2990A>G (n.22-2990A>G) c.3816A>G (p.Ile1272Met) n.5339A>G | gnomAD v4 |
| 5 | g.13844894T>G | CA443257822 | DNAH5 | c.5214A>C (p.Ile1738=) c.5169A>C (p.Ile1723=) n.5421A>C c.5322A>C (p.Ile1774=) c.4227A>C (p.Ile1409=) c.411A>C (p.Ile137=) c.22-2990A>C (n.22-2990A>C) c.3816A>C (p.Ile1272=) n.5339A>C | |
| 5 | g.13844895A>C | CA359214037 | DNAH5 | c.5213T>G (p.Ile1738Arg) c.5168T>G (p.Ile1723Arg) n.5420T>G c.5321T>G (p.Ile1774Arg) c.4226T>G (p.Ile1409Arg) c.410T>G (p.Ile137Arg) c.22-2991T>G (n.22-2991T>G) c.3815T>G (p.Ile1272Arg) n.5338T>G | |
| 5 | g.13844895A>G | CA359214038 | DNAH5 | c.5213T>C (p.Ile1738Thr) c.5168T>C (p.Ile1723Thr) n.5420T>C c.5321T>C (p.Ile1774Thr) c.4226T>C (p.Ile1409Thr) c.410T>C (p.Ile137Thr) c.22-2991T>C (n.22-2991T>C) c.3815T>C (p.Ile1272Thr) n.5338T>C | gnomAD v4 |
| 5 | g.13844895A>T | CA359214036 | DNAH5 | c.5213T>A (p.Ile1738Lys) c.5168T>A (p.Ile1723Lys) n.5420T>A c.5321T>A (p.Ile1774Lys) c.4226T>A (p.Ile1409Lys) c.410T>A (p.Ile137Lys) c.22-2991T>A (n.22-2991T>A) c.3815T>A (p.Ile1272Lys) n.5338T>A | |
| 5 | g.13844896T>A | CA359214039 | DNAH5 | c.5212A>T (p.Ile1738Leu) c.5167A>T (p.Ile1723Leu) n.5419A>T c.5320A>T (p.Ile1774Leu) c.4225A>T (p.Ile1409Leu) c.409A>T (p.Ile137Leu) c.22-2992A>T (n.22-2992A>T) c.3814A>T (p.Ile1272Leu) n.5337A>T | |
| 5 | g.13844896T>C | CA359214040 | DNAH5 | c.5212A>G (p.Ile1738Val) c.5167A>G (p.Ile1723Val) n.5419A>G c.5320A>G (p.Ile1774Val) c.4225A>G (p.Ile1409Val) c.409A>G (p.Ile137Val) c.22-2992A>G (n.22-2992A>G) c.3814A>G (p.Ile1272Val) n.5337A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13844896T>G | CA359214041 | DNAH5 | c.5212A>C (p.Ile1738Leu) c.5167A>C (p.Ile1723Leu) n.5419A>C c.5320A>C (p.Ile1774Leu) c.4225A>C (p.Ile1409Leu) c.409A>C (p.Ile137Leu) c.22-2992A>C (n.22-2992A>C) c.3814A>C (p.Ile1272Leu) n.5337A>C | ClinVar gnomAD v4 |
| 5 | g.13844896T= | CA1528465033 | DNAH5 | c.5212A= (p.Ile1738=) c.5167A= (p.Ile1723=) n.5419A= c.5320A= (p.Ile1774=) c.4225A= (p.Ile1409=) c.409A= (p.Ile137=) c.22-2992A= (n.22-2992A=) c.3814A= (p.Ile1272=) n.5337A= | |
| 5 | g.13844897A>C | CA443257828 | DNAH5 | c.5211T>G (p.Thr1737=) c.5166T>G (p.Thr1722=) n.5418T>G c.5319T>G (p.Thr1773=) c.4224T>G (p.Thr1408=) c.408T>G (p.Thr136=) c.22-2993T>G (n.22-2993T>G) c.3813T>G (p.Thr1271=) n.5336T>G | |
| 5 | g.13844897A>G | CA443257830 | DNAH5 | c.5211T>C (p.Thr1737=) c.5166T>C (p.Thr1722=) n.5418T>C c.5319T>C (p.Thr1773=) c.4224T>C (p.Thr1408=) c.408T>C (p.Thr136=) c.22-2993T>C (n.22-2993T>C) c.3813T>C (p.Thr1271=) n.5336T>C | |
| 5 | g.13844897A>T | CA443257832 | DNAH5 | c.5211T>A (p.Thr1737=) c.5166T>A (p.Thr1722=) n.5418T>A c.5319T>A (p.Thr1773=) c.4224T>A (p.Thr1408=) c.408T>A (p.Thr136=) c.22-2993T>A (n.22-2993T>A) c.3813T>A (p.Thr1271=) n.5336T>A | |
| 5 | g.13844898G>A | CA359214042 | DNAH5 | c.5210C>T (p.Thr1737Ile) c.5165C>T (p.Thr1722Ile) n.5417C>T c.5318C>T (p.Thr1773Ile) c.4223C>T (p.Thr1408Ile) c.407C>T (p.Thr136Ile) c.22-2994C>T (n.22-2994C>T) c.3812C>T (p.Thr1271Ile) n.5335C>T | dbSNP gnomAD v4 |
| 5 | g.13844898G>C | CA359214044 | DNAH5 | c.5210C>G (p.Thr1737Ser) c.5165C>G (p.Thr1722Ser) n.5417C>G c.5318C>G (p.Thr1773Ser) c.4223C>G (p.Thr1408Ser) c.407C>G (p.Thr136Ser) c.22-2994C>G (n.22-2994C>G) c.3812C>G (p.Thr1271Ser) n.5335C>G | gnomAD v4 |
| 5 | g.13844898G= | CA1528465034 | DNAH5 | c.5210C= (p.Thr1737=) c.5165C= (p.Thr1722=) n.5417C= c.5318C= (p.Thr1773=) c.4223C= (p.Thr1408=) c.407C= (p.Thr136=) c.22-2994C= (n.22-2994C=) c.3812C= (p.Thr1271=) n.5335C= | |
| 5 | g.13844898G>T | CA359214045 | DNAH5 | c.5210C>A (p.Thr1737Asn) c.5165C>A (p.Thr1722Asn) n.5417C>A c.5318C>A (p.Thr1773Asn) c.4223C>A (p.Thr1408Asn) c.407C>A (p.Thr136Asn) c.22-2994C>A (n.22-2994C>A) c.3812C>A (p.Thr1271Asn) n.5335C>A | dbSNP gnomAD v4 |
| 5 | g.13844899T>A | CA359214050 | DNAH5 | c.5209A>T (p.Thr1737Ser) c.5164A>T (p.Thr1722Ser) n.5416A>T c.5317A>T (p.Thr1773Ser) c.4222A>T (p.Thr1408Ser) c.406A>T (p.Thr136Ser) c.22-2995A>T (n.22-2995A>T) c.3811A>T (p.Thr1271Ser) n.5334A>T | |
| 5 | g.13844899T>C | CA113954569 | DNAH5 | c.5209A>G (p.Thr1737Ala) c.5164A>G (p.Thr1722Ala) n.5416A>G c.5317A>G (p.Thr1773Ala) c.4222A>G (p.Thr1408Ala) c.406A>G (p.Thr136Ala) c.22-2995A>G (n.22-2995A>G) c.3811A>G (p.Thr1271Ala) n.5334A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844899T>G | CA359214052 | DNAH5 | c.5209A>C (p.Thr1737Pro) c.5164A>C (p.Thr1722Pro) n.5416A>C c.5317A>C (p.Thr1773Pro) c.4222A>C (p.Thr1408Pro) c.406A>C (p.Thr136Pro) c.22-2995A>C (n.22-2995A>C) c.3811A>C (p.Thr1271Pro) n.5334A>C | |
| 5 | g.13844899T= | CA1528465035 | DNAH5 | c.5209A= (p.Thr1737=) c.5164A= (p.Thr1722=) n.5416A= c.5317A= (p.Thr1773=) c.4222A= (p.Thr1408=) c.406A= (p.Thr136=) c.22-2995A= (n.22-2995A=) c.3811A= (p.Thr1271=) n.5334A= | |
| 5 | g.13844900G>A | CA443257839 | DNAH5 | c.5208C>T (p.His1736=) c.5163C>T (p.His1721=) n.5415C>T c.5316C>T (p.His1772=) c.4221C>T (p.His1407=) c.405C>T (p.His135=) c.22-2996C>T (n.22-2996C>T) c.3810C>T (p.His1270=) n.5333C>T | |
| 5 | g.13844900G>C | CA359214053 | DNAH5 | c.5208C>G (p.His1736Gln) c.5163C>G (p.His1721Gln) n.5415C>G c.5316C>G (p.His1772Gln) c.4221C>G (p.His1407Gln) c.405C>G (p.His135Gln) c.22-2996C>G (n.22-2996C>G) c.3810C>G (p.His1270Gln) n.5333C>G | |
| 5 | g.13844900G>T | CA359214055 | DNAH5 | c.5208C>A (p.His1736Gln) c.5163C>A (p.His1721Gln) n.5415C>A c.5316C>A (p.His1772Gln) c.4221C>A (p.His1407Gln) c.405C>A (p.His135Gln) c.22-2996C>A (n.22-2996C>A) c.3810C>A (p.His1270Gln) n.5333C>A | |
| 5 | g.13844901T>A | CA359214057 | DNAH5 | c.5207A>T (p.His1736Leu) c.5162A>T (p.His1721Leu) n.5414A>T c.5315A>T (p.His1772Leu) c.4220A>T (p.His1407Leu) c.404A>T (p.His135Leu) c.22-2997A>T (n.22-2997A>T) c.3809A>T (p.His1270Leu) n.5332A>T | |
| 5 | g.13844901T>C | CA359214059 | DNAH5 | c.5207A>G (p.His1736Arg) c.5162A>G (p.His1721Arg) n.5414A>G c.5315A>G (p.His1772Arg) c.4220A>G (p.His1407Arg) c.404A>G (p.His135Arg) c.22-2997A>G (n.22-2997A>G) c.3809A>G (p.His1270Arg) n.5332A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13844901T>G | CA359214066 | DNAH5 | c.5207A>C (p.His1736Pro) c.5162A>C (p.His1721Pro) n.5414A>C c.5315A>C (p.His1772Pro) c.4220A>C (p.His1407Pro) c.404A>C (p.His135Pro) c.22-2997A>C (n.22-2997A>C) c.3809A>C (p.His1270Pro) n.5332A>C | |
| 5 | g.13844901T= | CA1528465036 | DNAH5 | c.5207A= (p.His1736=) c.5162A= (p.His1721=) n.5414A= c.5315A= (p.His1772=) c.4220A= (p.His1407=) c.404A= (p.His135=) c.22-2997A= (n.22-2997A=) c.3809A= (p.His1270=) n.5332A= | |
| 5 | g.13844902G>A | CA3203761 | DNAH5 | c.5206C>T (p.His1736Tyr) c.5161C>T (p.His1721Tyr) n.5413C>T c.5314C>T (p.His1772Tyr) c.4219C>T (p.His1407Tyr) c.403C>T (p.His135Tyr) c.22-2998C>T (n.22-2998C>T) c.3808C>T (p.His1270Tyr) n.5331C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.13844902G>C | CA359214072 | DNAH5 | c.5206C>G (p.His1736Asp) c.5161C>G (p.His1721Asp) n.5413C>G c.5314C>G (p.His1772Asp) c.4219C>G (p.His1407Asp) c.403C>G (p.His135Asp) c.22-2998C>G (n.22-2998C>G) c.3808C>G (p.His1270Asp) n.5331C>G | |
| 5 | g.13844902G= | CA1528465037 | DNAH5 | c.5206C= (p.His1736=) c.5161C= (p.His1721=) n.5413C= c.5314C= (p.His1772=) c.4219C= (p.His1407=) c.403C= (p.His135=) c.22-2998C= (n.22-2998C=) c.3808C= (p.His1270=) n.5331C= | |
| 5 | g.13844902G>T | CA359214068 | DNAH5 | c.5206C>A (p.His1736Asn) c.5161C>A (p.His1721Asn) n.5413C>A c.5314C>A (p.His1772Asn) c.4219C>A (p.His1407Asn) c.403C>A (p.His135Asn) c.22-2998C>A (n.22-2998C>A) c.3808C>A (p.His1270Asn) n.5331C>A | ClinVar |
| 5 | g.13844903G>A | CA443257850 | DNAH5 | c.5205C>T (p.Ser1735=) c.5160C>T (p.Ser1720=) n.5412C>T c.5313C>T (p.Ser1771=) c.4218C>T (p.Ser1406=) c.402C>T (p.Ser134=) c.22-2999C>T (n.22-2999C>T) c.3807C>T (p.Ser1269=) n.5330C>T | |
| 5 | g.13844903G>C | CA443257851 | DNAH5 | c.5205C>G (p.Ser1735=) c.5160C>G (p.Ser1720=) n.5412C>G c.5313C>G (p.Ser1771=) c.4218C>G (p.Ser1406=) c.402C>G (p.Ser134=) c.22-2999C>G (n.22-2999C>G) c.3807C>G (p.Ser1269=) n.5330C>G | |
| 5 | g.13844903G>T | CA443257853 | DNAH5 | c.5205C>A (p.Ser1735=) c.5160C>A (p.Ser1720=) n.5412C>A c.5313C>A (p.Ser1771=) c.4218C>A (p.Ser1406=) c.402C>A (p.Ser134=) c.22-2999C>A (n.22-2999C>A) c.3807C>A (p.Ser1269=) n.5330C>A | |
| 5 | g.13844904G>A | CA359214078 | DNAH5 | c.5204C>T (p.Ser1735Phe) c.5159C>T (p.Ser1720Phe) n.5411C>T c.5312C>T (p.Ser1771Phe) c.4217C>T (p.Ser1406Phe) c.401C>T (p.Ser134Phe) c.22-3000C>T (n.22-3000C>T) c.3806C>T (p.Ser1269Phe) n.5329C>T | |
| 5 | g.13844904G>C | CA359214075 | DNAH5 | c.5204C>G (p.Ser1735Cys) c.5159C>G (p.Ser1720Cys) n.5411C>G c.5312C>G (p.Ser1771Cys) c.4217C>G (p.Ser1406Cys) c.401C>G (p.Ser134Cys) c.22-3000C>G (n.22-3000C>G) c.3806C>G (p.Ser1269Cys) n.5329C>G | |
| 5 | g.13844904G= | CA1528465038 | DNAH5 | c.5204C= (p.Ser1735=) c.5159C= (p.Ser1720=) n.5411C= c.5312C= (p.Ser1771=) c.4217C= (p.Ser1406=) c.401C= (p.Ser134=) c.22-3000C= (n.22-3000C=) c.3806C= (p.Ser1269=) n.5329C= | |
| 5 | g.13844904G>T | CA359214079 | DNAH5 | c.5204C>A (p.Ser1735Tyr) c.5159C>A (p.Ser1720Tyr) n.5411C>A c.5312C>A (p.Ser1771Tyr) c.4217C>A (p.Ser1406Tyr) c.401C>A (p.Ser134Tyr) c.22-3000C>A (n.22-3000C>A) c.3806C>A (p.Ser1269Tyr) n.5329C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13844905A>C | CA359214080 | DNAH5 | c.5203T>G (p.Ser1735Ala) c.5158T>G (p.Ser1720Ala) n.5410T>G c.5311T>G (p.Ser1771Ala) c.4216T>G (p.Ser1406Ala) c.400T>G (p.Ser134Ala) c.22-3001T>G (n.22-3001T>G) c.3805T>G (p.Ser1269Ala) n.5328T>G | |
| 5 | g.13844905A>G | CA359214083 | DNAH5 | c.5203T>C (p.Ser1735Pro) c.5158T>C (p.Ser1720Pro) n.5410T>C c.5311T>C (p.Ser1771Pro) c.4216T>C (p.Ser1406Pro) c.400T>C (p.Ser134Pro) c.22-3001T>C (n.22-3001T>C) c.3805T>C (p.Ser1269Pro) n.5328T>C | |
| 5 | g.13844905A>T | CA359214081 | DNAH5 | c.5203T>A (p.Ser1735Thr) c.5158T>A (p.Ser1720Thr) n.5410T>A c.5311T>A (p.Ser1771Thr) c.4216T>A (p.Ser1406Thr) c.400T>A (p.Ser134Thr) c.22-3001T>A (n.22-3001T>A) c.3805T>A (p.Ser1269Thr) n.5328T>A | |
| 5 | g.13844906del | CA2697547064 | DNAH5 | c.5202del (p.Ser1735ProfsTer9) c.5157del (p.Ser1720ProfsTer9) n.5409del c.5310del (p.Ser1771ProfsTer9) c.4215del (p.Ser1406ProfsTer9) c.399del (p.Ser134ProfsTer9) c.22-3002del (n.22-3002del) c.3804del (p.Ser1269ProfsTer9) n.5327del | ClinVar |
| 5 | g.13844906G>A | CA443257860 | DNAH5 | c.5202C>T (p.Asp1734=) c.5157C>T (p.Asp1719=) n.5409C>T c.5310C>T (p.Asp1770=) c.4215C>T (p.Asp1405=) c.399C>T (p.Asp133=) c.22-3002C>T (n.22-3002C>T) c.3804C>T (p.Asp1268=) n.5327C>T | |
| 5 | g.13844906G>C | CA359214087 | DNAH5 | c.5202C>G (p.Asp1734Glu) c.5157C>G (p.Asp1719Glu) n.5409C>G c.5310C>G (p.Asp1770Glu) c.4215C>G (p.Asp1405Glu) c.399C>G (p.Asp133Glu) c.22-3002C>G (n.22-3002C>G) c.3804C>G (p.Asp1268Glu) n.5327C>G | |
| 5 | g.13844906G>T | CA359214092 | DNAH5 | c.5202C>A (p.Asp1734Glu) c.5157C>A (p.Asp1719Glu) n.5409C>A c.5310C>A (p.Asp1770Glu) c.4215C>A (p.Asp1405Glu) c.399C>A (p.Asp133Glu) c.22-3002C>A (n.22-3002C>A) c.3804C>A (p.Asp1268Glu) n.5327C>A | |
| 5 | g.13844907T>A | CA359214094 | DNAH5 | c.5201A>T (p.Asp1734Val) c.5156A>T (p.Asp1719Val) n.5408A>T c.5309A>T (p.Asp1770Val) c.4214A>T (p.Asp1405Val) c.398A>T (p.Asp133Val) c.22-3003A>T (n.22-3003A>T) c.3803A>T (p.Asp1268Val) n.5326A>T | |
| 5 | g.13844907T>C | CA359214095 | DNAH5 | c.5201A>G (p.Asp1734Gly) c.5156A>G (p.Asp1719Gly) n.5408A>G c.5309A>G (p.Asp1770Gly) c.4214A>G (p.Asp1405Gly) c.398A>G (p.Asp133Gly) c.22-3003A>G (n.22-3003A>G) c.3803A>G (p.Asp1268Gly) n.5326A>G | |
| 5 | g.13844907T>G | CA359214096 | DNAH5 | c.5201A>C (p.Asp1734Ala) c.5156A>C (p.Asp1719Ala) n.5408A>C c.5309A>C (p.Asp1770Ala) c.4214A>C (p.Asp1405Ala) c.398A>C (p.Asp133Ala) c.22-3003A>C (n.22-3003A>C) c.3803A>C (p.Asp1268Ala) n.5326A>C | |
| 5 | g.13844908C>A | CA359214097 | DNAH5 | c.5200G>T (p.Asp1734Tyr) c.5155G>T (p.Asp1719Tyr) n.5407G>T c.5308G>T (p.Asp1770Tyr) c.4213G>T (p.Asp1405Tyr) c.397G>T (p.Asp133Tyr) c.22-3004G>T (n.22-3004G>T) c.3802G>T (p.Asp1268Tyr) n.5325G>T | gnomAD v4 |
| 5 | g.13844908C= | CA1528465039 | DNAH5 | c.5200G= (p.Asp1734=) c.5155G= (p.Asp1719=) n.5407G= c.5308G= (p.Asp1770=) c.4213G= (p.Asp1405=) c.397G= (p.Asp133=) c.22-3004G= (n.22-3004G=) c.3802G= (p.Asp1268=) n.5325G= | |
| 5 | g.13844908C>G | CA359214098 | DNAH5 | c.5200G>C (p.Asp1734His) c.5155G>C (p.Asp1719His) n.5407G>C c.5308G>C (p.Asp1770His) c.4213G>C (p.Asp1405His) c.397G>C (p.Asp133His) c.22-3004G>C (n.22-3004G>C) c.3802G>C (p.Asp1268His) n.5325G>C | |
| 5 | g.13844908C>T | CA359214100 | DNAH5 | c.5200G>A (p.Asp1734Asn) c.5155G>A (p.Asp1719Asn) n.5407G>A c.5308G>A (p.Asp1770Asn) c.4213G>A (p.Asp1405Asn) c.397G>A (p.Asp133Asn) c.22-3004G>A (n.22-3004G>A) c.3802G>A (p.Asp1268Asn) n.5325G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13844909C>A | CA443257867 | DNAH5 | c.5199G>T (p.Ser1733=) c.5154G>T (p.Ser1718=) n.5406G>T c.5307G>T (p.Ser1769=) c.4212G>T (p.Ser1404=) c.396G>T (p.Ser132=) c.22-3005G>T (n.22-3005G>T) c.3801G>T (p.Ser1267=) n.5324G>T | |
| 5 | g.13844909C= | CA1528465040 | DNAH5 | c.5199G= (p.Ser1733=) c.5154G= (p.Ser1718=) n.5406G= c.5307G= (p.Ser1769=) c.4212G= (p.Ser1404=) c.396G= (p.Ser132=) c.22-3005G= (n.22-3005G=) c.3801G= (p.Ser1267=) n.5324G= | |
| 5 | g.13844909C>G | CA443257871 | DNAH5 | c.5199G>C (p.Ser1733=) c.5154G>C (p.Ser1718=) n.5406G>C c.5307G>C (p.Ser1769=) c.4212G>C (p.Ser1404=) c.396G>C (p.Ser132=) c.22-3005G>C (n.22-3005G>C) c.3801G>C (p.Ser1267=) n.5324G>C | gnomAD v4 |
| 5 | g.13844909C>T | CA3203762 | DNAH5 | c.5199G>A (p.Ser1733=) c.5154G>A (p.Ser1718=) n.5406G>A c.5307G>A (p.Ser1769=) c.4212G>A (p.Ser1404=) c.396G>A (p.Ser132=) c.22-3005G>A (n.22-3005G>A) c.3801G>A (p.Ser1267=) n.5324G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844909_13844910delinsA | CA2580072033 | DNAH5 | c.5198_5199delinsT (p.Ser1733LeufsTer11) c.5153_5154delinsT (p.Ser1718LeufsTer11) n.5405_5406delinsT c.5306_5307delinsT (p.Ser1769LeufsTer11) c.4211_4212delinsT (p.Ser1404LeufsTer11) c.395_396delinsT (p.Ser132LeufsTer11) c.22-3006_22-3005delinsT (n.22-3006_22-3005delinsT) c.3800_3801delinsT (p.Ser1267LeufsTer11) n.5323_5324delinsT | ClinVar |
| 5 | g.13844910G>A | CA3203763 | DNAH5 | c.5198C>T (p.Ser1733Leu) c.5153C>T (p.Ser1718Leu) n.5405C>T c.5306C>T (p.Ser1769Leu) c.4211C>T (p.Ser1404Leu) c.395C>T (p.Ser132Leu) c.22-3006C>T (n.22-3006C>T) c.3800C>T (p.Ser1267Leu) n.5323C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844910G>C | CA359214104 | DNAH5 | c.5198C>G (p.Ser1733Trp) c.5153C>G (p.Ser1718Trp) n.5405C>G c.5306C>G (p.Ser1769Trp) c.4211C>G (p.Ser1404Trp) c.395C>G (p.Ser132Trp) c.22-3006C>G (n.22-3006C>G) c.3800C>G (p.Ser1267Trp) n.5323C>G | |
| 5 | g.13844910G= | CA1528465041 | DNAH5 | c.5198C= (p.Ser1733=) c.5153C= (p.Ser1718=) n.5405C= c.5306C= (p.Ser1769=) c.4211C= (p.Ser1404=) c.395C= (p.Ser132=) c.22-3006C= (n.22-3006C=) c.3800C= (p.Ser1267=) n.5323C= | |
| 5 | g.13844910G>T | CA359214105 | DNAH5 | c.5198C>A (p.Ser1733Ter) c.5153C>A (p.Ser1718Ter) n.5405C>A c.5306C>A (p.Ser1769Ter) c.4211C>A (p.Ser1404Ter) c.395C>A (p.Ser132Ter) c.22-3006C>A (n.22-3006C>A) c.3800C>A (p.Ser1267Ter) n.5323C>A | ClinVar dbSNP |
| 5 | g.13844911A>C | CA359214109 | DNAH5 | c.5197T>G (p.Ser1733Ala) c.5152T>G (p.Ser1718Ala) n.5404T>G c.5305T>G (p.Ser1769Ala) c.4210T>G (p.Ser1404Ala) c.394T>G (p.Ser132Ala) c.22-3007T>G (n.22-3007T>G) c.3799T>G (p.Ser1267Ala) n.5322T>G | gnomAD v4 |
| 5 | g.13844911A>G | CA359214110 | DNAH5 | c.5197T>C (p.Ser1733Pro) c.5152T>C (p.Ser1718Pro) n.5404T>C c.5305T>C (p.Ser1769Pro) c.4210T>C (p.Ser1404Pro) c.394T>C (p.Ser132Pro) c.22-3007T>C (n.22-3007T>C) c.3799T>C (p.Ser1267Pro) n.5322T>C | |
| 5 | g.13844911A>T | CA359214111 | DNAH5 | c.5197T>A (p.Ser1733Thr) c.5152T>A (p.Ser1718Thr) n.5404T>A c.5305T>A (p.Ser1769Thr) c.4210T>A (p.Ser1404Thr) c.394T>A (p.Ser132Thr) c.22-3007T>A (n.22-3007T>A) c.3799T>A (p.Ser1267Thr) n.5322T>A | |
| 5 | g.13844912C>A | CA3203765 | DNAH5 | c.5196G>T (p.Ala1732=) c.5151G>T (p.Ala1717=) n.5403G>T c.5304G>T (p.Ala1768=) c.4209G>T (p.Ala1403=) c.393G>T (p.Ala131=) c.22-3008G>T (n.22-3008G>T) c.3798G>T (p.Ala1266=) n.5321G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844912C= | CA1528465042 | DNAH5 | c.5196G= (p.Ala1732=) c.5151G= (p.Ala1717=) n.5403G= c.5304G= (p.Ala1768=) c.4209G= (p.Ala1403=) c.393G= (p.Ala131=) c.22-3008G= (n.22-3008G=) c.3798G= (p.Ala1266=) n.5321G= | |
| 5 | g.13844912C>G | CA443258061 | DNAH5 | c.5196G>C (p.Ala1732=) c.5151G>C (p.Ala1717=) n.5403G>C c.5304G>C (p.Ala1768=) c.4209G>C (p.Ala1403=) c.393G>C (p.Ala131=) c.22-3008G>C (n.22-3008G>C) c.3798G>C (p.Ala1266=) n.5321G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.13844912C>T | CA3203764 | DNAH5 | c.5196G>A (p.Ala1732=) c.5151G>A (p.Ala1717=) n.5403G>A c.5304G>A (p.Ala1768=) c.4209G>A (p.Ala1403=) c.393G>A (p.Ala131=) c.22-3008G>A (n.22-3008G>A) c.3798G>A (p.Ala1266=) n.5321G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844913G>A | CA113954606 | DNAH5 | c.5195C>T (p.Ala1732Val) c.5150C>T (p.Ala1717Val) n.5402C>T c.5303C>T (p.Ala1768Val) c.4208C>T (p.Ala1403Val) c.392C>T (p.Ala131Val) c.22-3009C>T (n.22-3009C>T) c.3797C>T (p.Ala1266Val) n.5320C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844913G>C | CA359214120 | DNAH5 | c.5195C>G (p.Ala1732Gly) c.5150C>G (p.Ala1717Gly) n.5402C>G c.5303C>G (p.Ala1768Gly) c.4208C>G (p.Ala1403Gly) c.392C>G (p.Ala131Gly) c.22-3009C>G (n.22-3009C>G) c.3797C>G (p.Ala1266Gly) n.5320C>G | |
| 5 | g.13844913G= | CA1528465043 | DNAH5 | c.5195C= (p.Ala1732=) c.5150C= (p.Ala1717=) n.5402C= c.5303C= (p.Ala1768=) c.4208C= (p.Ala1403=) c.392C= (p.Ala131=) c.22-3009C= (n.22-3009C=) c.3797C= (p.Ala1266=) n.5320C= | |
| 5 | g.13844913G>T | CA359214123 | DNAH5 | c.5195C>A (p.Ala1732Glu) c.5150C>A (p.Ala1717Glu) n.5402C>A c.5303C>A (p.Ala1768Glu) c.4208C>A (p.Ala1403Glu) c.392C>A (p.Ala131Glu) c.22-3009C>A (n.22-3009C>A) c.3797C>A (p.Ala1266Glu) n.5320C>A | |
| 5 | g.13844914C>A | CA359214127 | DNAH5 | c.5194G>T (p.Ala1732Ser) c.5149G>T (p.Ala1717Ser) n.5401G>T c.5302G>T (p.Ala1768Ser) c.4207G>T (p.Ala1403Ser) c.391G>T (p.Ala131Ser) c.22-3010G>T (n.22-3010G>T) c.3796G>T (p.Ala1266Ser) n.5319G>T | |
| 5 | g.13844914C= | CA1528465044 | DNAH5 | c.5194G= (p.Ala1732=) c.5149G= (p.Ala1717=) n.5401G= c.5302G= (p.Ala1768=) c.4207G= (p.Ala1403=) c.391G= (p.Ala131=) c.22-3010G= (n.22-3010G=) c.3796G= (p.Ala1266=) n.5319G= | |
| 5 | g.13844914C>G | CA359214129 | DNAH5 | c.5194G>C (p.Ala1732Pro) c.5149G>C (p.Ala1717Pro) n.5401G>C c.5302G>C (p.Ala1768Pro) c.4207G>C (p.Ala1403Pro) c.391G>C (p.Ala131Pro) c.22-3010G>C (n.22-3010G>C) c.3796G>C (p.Ala1266Pro) n.5319G>C | dbSNP gnomAD v4 |
| 5 | g.13844914C>T | CA359214131 | DNAH5 | c.5194G>A (p.Ala1732Thr) c.5149G>A (p.Ala1717Thr) n.5401G>A c.5302G>A (p.Ala1768Thr) c.4207G>A (p.Ala1403Thr) c.391G>A (p.Ala131Thr) c.22-3010G>A (n.22-3010G>A) c.3796G>A (p.Ala1266Thr) n.5319G>A | |
| 5 | g.13844915del | CA2499217636 | DNAH5 | c.5194del (p.Ala1732ArgfsTer12) c.5149del (p.Ala1717ArgfsTer12) n.5401del c.5302del (p.Ala1768ArgfsTer12) c.4207del (p.Ala1403ArgfsTer12) c.391del (p.Ala131ArgfsTer12) c.22-3010del (n.22-3010del) c.3796del (p.Ala1266ArgfsTer12) n.5319del | ClinVar dbSNP |
| 5 | g.13844915C>A | CA359214133 | DNAH5 | c.5193G>T (p.Gln1731His) c.5148G>T (p.Gln1716His) n.5400G>T c.5301G>T (p.Gln1767His) c.4206G>T (p.Gln1402His) c.390G>T (p.Gln130His) c.22-3011G>T (n.22-3011G>T) c.3795G>T (p.Gln1265His) n.5318G>T | |
| 5 | g.13844915C>G | CA359214134 | DNAH5 | c.5193G>C (p.Gln1731His) c.5148G>C (p.Gln1716His) n.5400G>C c.5301G>C (p.Gln1767His) c.4206G>C (p.Gln1402His) c.390G>C (p.Gln130His) c.22-3011G>C (n.22-3011G>C) c.3795G>C (p.Gln1265His) n.5318G>C | |
| 5 | g.13844915C>T | CA443258081 | DNAH5 | c.5193G>A (p.Gln1731=) c.5148G>A (p.Gln1716=) n.5400G>A c.5301G>A (p.Gln1767=) c.4206G>A (p.Gln1402=) c.390G>A (p.Gln130=) c.22-3011G>A (n.22-3011G>A) c.3795G>A (p.Gln1265=) n.5318G>A | ClinVar |
| 5 | g.13844916T>A | CA359214136 | DNAH5 | c.5192A>T (p.Gln1731Leu) c.5147A>T (p.Gln1716Leu) n.5399A>T c.5300A>T (p.Gln1767Leu) c.4205A>T (p.Gln1402Leu) c.389A>T (p.Gln130Leu) c.22-3012A>T (n.22-3012A>T) c.3794A>T (p.Gln1265Leu) n.5317A>T | |
| 5 | g.13844916T>C | CA359214138 | DNAH5 | c.5192A>G (p.Gln1731Arg) c.5147A>G (p.Gln1716Arg) n.5399A>G c.5300A>G (p.Gln1767Arg) c.4205A>G (p.Gln1402Arg) c.389A>G (p.Gln130Arg) c.22-3012A>G (n.22-3012A>G) c.3794A>G (p.Gln1265Arg) n.5317A>G | |
| 5 | g.13844916T>G | CA359214140 | DNAH5 | c.5192A>C (p.Gln1731Pro) c.5147A>C (p.Gln1716Pro) n.5399A>C c.5300A>C (p.Gln1767Pro) c.4205A>C (p.Gln1402Pro) c.389A>C (p.Gln130Pro) c.22-3012A>C (n.22-3012A>C) c.3794A>C (p.Gln1265Pro) n.5317A>C | |
| 5 | g.13844917G>A | CA359214145 | DNAH5 | c.5191C>T (p.Gln1731Ter) c.5146C>T (p.Gln1716Ter) n.5398C>T c.5299C>T (p.Gln1767Ter) c.4204C>T (p.Gln1402Ter) c.388C>T (p.Gln130Ter) c.22-3013C>T (n.22-3013C>T) c.3793C>T (p.Gln1265Ter) n.5316C>T | COSMIC |
| 5 | g.13844917G>C | CA359214143 | DNAH5 | c.5191C>G (p.Gln1731Glu) c.5146C>G (p.Gln1716Glu) n.5398C>G c.5299C>G (p.Gln1767Glu) c.4204C>G (p.Gln1402Glu) c.388C>G (p.Gln130Glu) c.22-3013C>G (n.22-3013C>G) c.3793C>G (p.Gln1265Glu) n.5316C>G | |
| 5 | g.13844917G>T | CA359214142 | DNAH5 | c.5191C>A (p.Gln1731Lys) c.5146C>A (p.Gln1716Lys) n.5398C>A c.5299C>A (p.Gln1767Lys) c.4204C>A (p.Gln1402Lys) c.388C>A (p.Gln130Lys) c.22-3013C>A (n.22-3013C>A) c.3793C>A (p.Gln1265Lys) n.5316C>A | |
| 5 | g.13844918C>A | CA3203766 | DNAH5 | c.5190G>T (p.Gly1730=) c.5145G>T (p.Gly1715=) n.5397G>T c.5298G>T (p.Gly1766=) c.4203G>T (p.Gly1401=) c.387G>T (p.Gly129=) c.22-3014G>T (n.22-3014G>T) c.3792G>T (p.Gly1264=) n.5315G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844918C= | CA1528465045 | DNAH5 | c.5190G= (p.Gly1730=) c.5145G= (p.Gly1715=) n.5397G= c.5298G= (p.Gly1766=) c.4203G= (p.Gly1401=) c.387G= (p.Gly129=) c.22-3014G= (n.22-3014G=) c.3792G= (p.Gly1264=) n.5315G= | |
| 5 | g.13844918C>G | CA443258092 | DNAH5 | c.5190G>C (p.Gly1730=) c.5145G>C (p.Gly1715=) n.5397G>C c.5298G>C (p.Gly1766=) c.4203G>C (p.Gly1401=) c.387G>C (p.Gly129=) c.22-3014G>C (n.22-3014G>C) c.3792G>C (p.Gly1264=) n.5315G>C | |
| 5 | g.13844918C>T | CA443258093 | DNAH5 | c.5190G>A (p.Gly1730=) c.5145G>A (p.Gly1715=) n.5397G>A c.5298G>A (p.Gly1766=) c.4203G>A (p.Gly1401=) c.387G>A (p.Gly129=) c.22-3014G>A (n.22-3014G>A) c.3792G>A (p.Gly1264=) n.5315G>A | |
| 5 | g.13844919C>A | CA359214147 | DNAH5 | c.5189G>T (p.Gly1730Val) c.5144G>T (p.Gly1715Val) n.5396G>T c.5297G>T (p.Gly1766Val) c.4202G>T (p.Gly1401Val) c.386G>T (p.Gly129Val) c.22-3015G>T (n.22-3015G>T) c.3791G>T (p.Gly1264Val) n.5314G>T | |
| 5 | g.13844919C>G | CA359214150 | DNAH5 | c.5189G>C (p.Gly1730Ala) c.5144G>C (p.Gly1715Ala) n.5396G>C c.5297G>C (p.Gly1766Ala) c.4202G>C (p.Gly1401Ala) c.386G>C (p.Gly129Ala) c.22-3015G>C (n.22-3015G>C) c.3791G>C (p.Gly1264Ala) n.5314G>C | |
| 5 | g.13844919C>T | CA359214153 | DNAH5 | c.5189G>A (p.Gly1730Glu) c.5144G>A (p.Gly1715Glu) n.5396G>A c.5297G>A (p.Gly1766Glu) c.4202G>A (p.Gly1401Glu) c.386G>A (p.Gly129Glu) c.22-3015G>A (n.22-3015G>A) c.3791G>A (p.Gly1264Glu) n.5314G>A | gnomAD v4 |
| 5 | g.13844920C>A | CA359214156 | DNAH5 | c.5188G>T (p.Gly1730Trp) c.5143G>T (p.Gly1715Trp) n.5395G>T c.5296G>T (p.Gly1766Trp) c.4201G>T (p.Gly1401Trp) c.385G>T (p.Gly129Trp) c.22-3016G>T (n.22-3016G>T) c.3790G>T (p.Gly1264Trp) n.5313G>T | |
| 5 | g.13844920C>G | CA359214157 | DNAH5 | c.5188G>C (p.Gly1730Arg) c.5143G>C (p.Gly1715Arg) n.5395G>C c.5296G>C (p.Gly1766Arg) c.4201G>C (p.Gly1401Arg) c.385G>C (p.Gly129Arg) c.22-3016G>C (n.22-3016G>C) c.3790G>C (p.Gly1264Arg) n.5313G>C | |
| 5 | g.13844920C>T | CA359214158 | DNAH5 | c.5188G>A (p.Gly1730Arg) c.5143G>A (p.Gly1715Arg) n.5395G>A c.5296G>A (p.Gly1766Arg) c.4201G>A (p.Gly1401Arg) c.385G>A (p.Gly129Arg) c.22-3016G>A (n.22-3016G>A) c.3790G>A (p.Gly1264Arg) n.5313G>A | |
| 5 | g.13844921C>A | CA443258103 | DNAH5 | c.5187G>T (p.Leu1729=) c.5142G>T (p.Leu1714=) n.5394G>T c.5295G>T (p.Leu1765=) c.4200G>T (p.Leu1400=) c.384G>T (p.Leu128=) c.22-3017G>T (n.22-3017G>T) c.3789G>T (p.Leu1263=) n.5312G>T | |
| 5 | g.13844921C>G | CA443258105 | DNAH5 | c.5187G>C (p.Leu1729=) c.5142G>C (p.Leu1714=) n.5394G>C c.5295G>C (p.Leu1765=) c.4200G>C (p.Leu1400=) c.384G>C (p.Leu128=) c.22-3017G>C (n.22-3017G>C) c.3789G>C (p.Leu1263=) n.5312G>C | |
| 5 | g.13844921C>T | CA443258108 | DNAH5 | c.5187G>A (p.Leu1729=) c.5142G>A (p.Leu1714=) n.5394G>A c.5295G>A (p.Leu1765=) c.4200G>A (p.Leu1400=) c.384G>A (p.Leu128=) c.22-3017G>A (n.22-3017G>A) c.3789G>A (p.Leu1263=) n.5312G>A | ClinVar dbSNP |
| 5 | g.13844922A>C | CA359214161 | DNAH5 | c.5186T>G (p.Leu1729Arg) c.5141T>G (p.Leu1714Arg) n.5393T>G c.5294T>G (p.Leu1765Arg) c.4199T>G (p.Leu1400Arg) c.383T>G (p.Leu128Arg) c.22-3018T>G (n.22-3018T>G) c.3788T>G (p.Leu1263Arg) n.5311T>G | |
| 5 | g.13844922A>G | CA359214165 | DNAH5 | c.5186T>C (p.Leu1729Pro) c.5141T>C (p.Leu1714Pro) n.5393T>C c.5294T>C (p.Leu1765Pro) c.4199T>C (p.Leu1400Pro) c.383T>C (p.Leu128Pro) c.22-3018T>C (n.22-3018T>C) c.3788T>C (p.Leu1263Pro) n.5311T>C | |
| 5 | g.13844922A>T | CA359214163 | DNAH5 | c.5186T>A (p.Leu1729Gln) c.5141T>A (p.Leu1714Gln) n.5393T>A c.5294T>A (p.Leu1765Gln) c.4199T>A (p.Leu1400Gln) c.383T>A (p.Leu128Gln) c.22-3018T>A (n.22-3018T>A) c.3788T>A (p.Leu1263Gln) n.5311T>A | |
| 5 | g.13844923G>A | CA443258113 | DNAH5 | c.5185C>T (p.Leu1729=) c.5140C>T (p.Leu1714=) n.5392C>T c.5293C>T (p.Leu1765=) c.4198C>T (p.Leu1400=) c.382C>T (p.Leu128=) c.22-3019C>T (n.22-3019C>T) c.3787C>T (p.Leu1263=) n.5310C>T | |
| 5 | g.13844923G>C | CA359214167 | DNAH5 | c.5185C>G (p.Leu1729Val) c.5140C>G (p.Leu1714Val) n.5392C>G c.5293C>G (p.Leu1765Val) c.4198C>G (p.Leu1400Val) c.382C>G (p.Leu128Val) c.22-3019C>G (n.22-3019C>G) c.3787C>G (p.Leu1263Val) n.5310C>G | |
| 5 | g.13844923G>T | CA359214169 | DNAH5 | c.5185C>A (p.Leu1729Met) c.5140C>A (p.Leu1714Met) n.5392C>A c.5293C>A (p.Leu1765Met) c.4198C>A (p.Leu1400Met) c.382C>A (p.Leu128Met) c.22-3019C>A (n.22-3019C>A) c.3787C>A (p.Leu1263Met) n.5310C>A | |
| 5 | g.13844924A= | CA1528465046 | DNAH5 | c.5184T= (p.Ile1728=) c.5139T= (p.Ile1713=) n.5391T= c.5292T= (p.Ile1764=) c.4197T= (p.Ile1399=) c.381T= (p.Ile127=) c.22-3020T= (n.22-3020T=) c.3786T= (p.Ile1262=) n.5309T= | |
| 5 | g.13844924A>C | CA359214172 | DNAH5 | c.5184T>G (p.Ile1728Met) c.5139T>G (p.Ile1713Met) n.5391T>G c.5292T>G (p.Ile1764Met) c.4197T>G (p.Ile1399Met) c.381T>G (p.Ile127Met) c.22-3020T>G (n.22-3020T>G) c.3786T>G (p.Ile1262Met) n.5309T>G | |
| 5 | g.13844924A>G | CA3203767 | DNAH5 | c.5184T>C (p.Ile1728=) c.5139T>C (p.Ile1713=) n.5391T>C c.5292T>C (p.Ile1764=) c.4197T>C (p.Ile1399=) c.381T>C (p.Ile127=) c.22-3020T>C (n.22-3020T>C) c.3786T>C (p.Ile1262=) n.5309T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844924A>T | CA443258121 | DNAH5 | c.5184T>A (p.Ile1728=) c.5139T>A (p.Ile1713=) n.5391T>A c.5292T>A (p.Ile1764=) c.4197T>A (p.Ile1399=) c.381T>A (p.Ile127=) c.22-3020T>A (n.22-3020T>A) c.3786T>A (p.Ile1262=) n.5309T>A | |
| 5 | g.13844925A>C | CA359214178 | DNAH5 | c.5183T>G (p.Ile1728Ser) c.5138T>G (p.Ile1713Ser) n.5390T>G c.5291T>G (p.Ile1764Ser) c.4196T>G (p.Ile1399Ser) c.380T>G (p.Ile127Ser) c.22-3021T>G (n.22-3021T>G) c.3785T>G (p.Ile1262Ser) n.5308T>G | |
| 5 | g.13844925A>G | CA359214185 | DNAH5 | c.5183T>C (p.Ile1728Thr) c.5138T>C (p.Ile1713Thr) n.5390T>C c.5291T>C (p.Ile1764Thr) c.4196T>C (p.Ile1399Thr) c.380T>C (p.Ile127Thr) c.22-3021T>C (n.22-3021T>C) c.3785T>C (p.Ile1262Thr) n.5308T>C | |
| 5 | g.13844925A>T | CA359214182 | DNAH5 | c.5183T>A (p.Ile1728Asn) c.5138T>A (p.Ile1713Asn) n.5390T>A c.5291T>A (p.Ile1764Asn) c.4196T>A (p.Ile1399Asn) c.380T>A (p.Ile127Asn) c.22-3021T>A (n.22-3021T>A) c.3785T>A (p.Ile1262Asn) n.5308T>A | |
| 5 | g.13844926T>A | CA359214188 | DNAH5 | c.5182A>T (p.Ile1728Phe) c.5137A>T (p.Ile1713Phe) n.5389A>T c.5290A>T (p.Ile1764Phe) c.4195A>T (p.Ile1399Phe) c.379A>T (p.Ile127Phe) c.22-3022A>T (n.22-3022A>T) c.3784A>T (p.Ile1262Phe) n.5307A>T | |
| 5 | g.13844926T>C | CA359214190 | DNAH5 | c.5182A>G (p.Ile1728Val) c.5137A>G (p.Ile1713Val) n.5389A>G c.5290A>G (p.Ile1764Val) c.4195A>G (p.Ile1399Val) c.379A>G (p.Ile127Val) c.22-3022A>G (n.22-3022A>G) c.3784A>G (p.Ile1262Val) n.5307A>G | |
| 5 | g.13844926T>G | CA359214192 | DNAH5 | c.5182A>C (p.Ile1728Leu) c.5137A>C (p.Ile1713Leu) n.5389A>C c.5290A>C (p.Ile1764Leu) c.4195A>C (p.Ile1399Leu) c.379A>C (p.Ile127Leu) c.22-3022A>C (n.22-3022A>C) c.3784A>C (p.Ile1262Leu) n.5307A>C | |
| 5 | g.13844929_13844930del | CA2580613522 | DNAH5 | c.5181_5182del (p.Glu1727AspfsTer20) c.5136_5137del (p.Glu1712AspfsTer20) n.5388_5389del c.5289_5290del (p.Glu1763AspfsTer20) c.4194_4195del (p.Glu1398AspfsTer20) c.378_379del (p.Glu126AspfsTer20) c.22-3023_22-3022del (n.22-3023_22-3022del) c.3783_3784del (p.Glu1261AspfsTer20) n.5306_5307del | ClinVar |
| 5 | g.13844927C>A | CA359214194 | DNAH5 | c.5181G>T (p.Glu1727Asp) c.5136G>T (p.Glu1712Asp) n.5388G>T c.5289G>T (p.Glu1763Asp) c.4194G>T (p.Glu1398Asp) c.378G>T (p.Glu126Asp) c.22-3023G>T (n.22-3023G>T) c.3783G>T (p.Glu1261Asp) n.5306G>T | |
| 5 | g.13844927C>G | CA359214195 | DNAH5 | c.5181G>C (p.Glu1727Asp) c.5136G>C (p.Glu1712Asp) n.5388G>C c.5289G>C (p.Glu1763Asp) c.4194G>C (p.Glu1398Asp) c.378G>C (p.Glu126Asp) c.22-3023G>C (n.22-3023G>C) c.3783G>C (p.Glu1261Asp) n.5306G>C | |
| 5 | g.13844927C>T | CA443258134 | DNAH5 | c.5181G>A (p.Glu1727=) c.5136G>A (p.Glu1712=) n.5388G>A c.5289G>A (p.Glu1763=) c.4194G>A (p.Glu1398=) c.378G>A (p.Glu126=) c.22-3023G>A (n.22-3023G>A) c.3783G>A (p.Glu1261=) n.5306G>A | |
| 5 | g.13844928T>A | CA359214197 | DNAH5 | c.5180A>T (p.Glu1727Val) c.5135A>T (p.Glu1712Val) n.5387A>T c.5288A>T (p.Glu1763Val) c.4193A>T (p.Glu1398Val) c.377A>T (p.Glu126Val) c.22-3024A>T (n.22-3024A>T) c.3782A>T (p.Glu1261Val) n.5305A>T | |
| 5 | g.13844928T>C | CA359214200 | DNAH5 | c.5180A>G (p.Glu1727Gly) c.5135A>G (p.Glu1712Gly) n.5387A>G c.5288A>G (p.Glu1763Gly) c.4193A>G (p.Glu1398Gly) c.377A>G (p.Glu126Gly) c.22-3024A>G (n.22-3024A>G) c.3782A>G (p.Glu1261Gly) n.5305A>G | gnomAD v4 |
| 5 | g.13844928T>G | CA359214203 | DNAH5 | c.5180A>C (p.Glu1727Ala) c.5135A>C (p.Glu1712Ala) n.5387A>C c.5288A>C (p.Glu1763Ala) c.4193A>C (p.Glu1398Ala) c.377A>C (p.Glu126Ala) c.22-3024A>C (n.22-3024A>C) c.3782A>C (p.Glu1261Ala) n.5305A>C | |
| 5 | g.13844929C>A | CA359214205 | DNAH5 | c.5179G>T (p.Glu1727Ter) c.5134G>T (p.Glu1712Ter) n.5386G>T c.5287G>T (p.Glu1763Ter) c.4192G>T (p.Glu1398Ter) c.376G>T (p.Glu126Ter) c.22-3025G>T (n.22-3025G>T) c.3781G>T (p.Glu1261Ter) n.5304G>T | |
| 5 | g.13844929C= | CA1528465047 | DNAH5 | c.5179G= (p.Glu1727=) c.5134G= (p.Glu1712=) n.5386G= c.5287G= (p.Glu1763=) c.4192G= (p.Glu1398=) c.376G= (p.Glu126=) c.22-3025G= (n.22-3025G=) c.3781G= (p.Glu1261=) n.5304G= | |
| 5 | g.13844929C>G | CA359214207 | DNAH5 | c.5179G>C (p.Glu1727Gln) c.5134G>C (p.Glu1712Gln) n.5386G>C c.5287G>C (p.Glu1763Gln) c.4192G>C (p.Glu1398Gln) c.376G>C (p.Glu126Gln) c.22-3025G>C (n.22-3025G>C) c.3781G>C (p.Glu1261Gln) n.5304G>C | COSMIC |
| 5 | g.13844929C>T | CA359214209 | DNAH5 | c.5179G>A (p.Glu1727Lys) c.5134G>A (p.Glu1712Lys) n.5386G>A c.5287G>A (p.Glu1763Lys) c.4192G>A (p.Glu1398Lys) c.376G>A (p.Glu126Lys) c.22-3025G>A (n.22-3025G>A) c.3781G>A (p.Glu1261Lys) n.5304G>A | dbSNP gnomAD v4 |
| 5 | g.13844930T>A | CA443258144 | DNAH5 | c.5178A>T (p.Leu1726=) c.5133A>T (p.Leu1711=) n.5385A>T c.5286A>T (p.Leu1762=) c.4191A>T (p.Leu1397=) c.375A>T (p.Leu125=) c.22-3026A>T (n.22-3026A>T) c.3780A>T (p.Leu1260=) n.5303A>T | |
| 5 | g.13844930T>C | CA3203768 | DNAH5 | c.5178A>G (p.Leu1726=) c.5133A>G (p.Leu1711=) n.5385A>G c.5286A>G (p.Leu1762=) c.4191A>G (p.Leu1397=) c.375A>G (p.Leu125=) c.22-3026A>G (n.22-3026A>G) c.3780A>G (p.Leu1260=) n.5303A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13844930T>G | CA443258148 | DNAH5 | c.5178A>C (p.Leu1726=) c.5133A>C (p.Leu1711=) n.5385A>C c.5286A>C (p.Leu1762=) c.4191A>C (p.Leu1397=) c.375A>C (p.Leu125=) c.22-3026A>C (n.22-3026A>C) c.3780A>C (p.Leu1260=) n.5303A>C | |
| 5 | g.13844930T= | CA1528465048 | DNAH5 | c.5178A= (p.Leu1726=) c.5133A= (p.Leu1711=) n.5385A= c.5286A= (p.Leu1762=) c.4191A= (p.Leu1397=) c.375A= (p.Leu125=) c.22-3026A= (n.22-3026A=) c.3780A= (p.Leu1260=) n.5303A= | |
| 5 | g.13844931A= | CA1528465049 | DNAH5 | c.5177T= (p.Leu1726=) c.5132T= (p.Leu1711=) n.5384T= c.5285T= (p.Leu1762=) c.4190T= (p.Leu1397=) c.374T= (p.Leu125=) c.22-3027T= (n.22-3027T=) c.3779T= (p.Leu1260=) n.5302T= | |
| 5 | g.13844931A>C | CA359214213 | DNAH5 | c.5177T>G (p.Leu1726Arg) c.5132T>G (p.Leu1711Arg) n.5384T>G c.5285T>G (p.Leu1762Arg) c.4190T>G (p.Leu1397Arg) c.374T>G (p.Leu125Arg) c.22-3027T>G (n.22-3027T>G) c.3779T>G (p.Leu1260Arg) n.5302T>G | |
| 5 | g.13844931A>G | CA3203769 | DNAH5 | c.5177T>C (p.Leu1726Pro) c.5132T>C (p.Leu1711Pro) n.5384T>C c.5285T>C (p.Leu1762Pro) c.4190T>C (p.Leu1397Pro) c.374T>C (p.Leu125Pro) c.22-3027T>C (n.22-3027T>C) c.3779T>C (p.Leu1260Pro) n.5302T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844931A>T | CA359214215 | DNAH5 | c.5177T>A (p.Leu1726Gln) c.5132T>A (p.Leu1711Gln) n.5384T>A c.5285T>A (p.Leu1762Gln) c.4190T>A (p.Leu1397Gln) c.374T>A (p.Leu125Gln) c.22-3027T>A (n.22-3027T>A) c.3779T>A (p.Leu1260Gln) n.5302T>A |