| 7 | g.21543087_21543591delinsGGCGCCCCG | CA2739266287 | DNAH11 | c.-159_346delinsGGCGCCCCG
| ClinVar |
| 7 | g.21543344_21543345del | CA2681975859 | DNAH11 | c.99_100del (p.Glu34AlafsTer?)
| ClinVar gnomAD v4 |
| 7 | g.21543345G>T | CA147201 | DNAH11 | c.100G>T (p.Glu34Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21543345_21543346delinsGA | CA1693537966 | DNAH11 | c.100_101delinsGA (p.Glu34=)
| |
| 7 | g.21543345_21543346delinsTT | CA210983 | DNAH11 | c.100_101delinsTT (p.Glu34Leu)
| ClinVar dbSNP |
| 7 | g.21543346A>T | CA147203 | DNAH11 | c.101A>T (p.Glu34Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21543349T>C | CA366931143 | DNAH11 | c.104T>C (p.Leu35Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21543349T>G | CA366931144 | DNAH11 | c.104T>G (p.Leu35Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21543349_21543367delinsTCGAGGAGGAGGAGGAGAA | CA1693537969 | DNAH11 | c.104_122delinsTCGAGGAGGAGGAGGAGAA (p.Leu35=)
| |
| 7 | g.21543350C>G | CA454138888 | DNAH11 | c.105C>G (p.Leu35=)
| dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21543350C>T | CA454138889 | DNAH11 | c.105C>T (p.Leu35=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21543350_21543353delinsCGAG | CA1693537972 | DNAH11 | c.105_108delinsCGAG (p.Leu35=)
| |
| 7 | g.21543361_21543378dup | CA573292091 | DNAH11 | c.116_133dup (p.Glu44_Ala45insGluGluAsnGluGluGlu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21543361_21543378del | CA1693537971 | DNAH11 | c.116_133del (p.Glu39_Glu44del)
| dbSNP gnomAD v4 |
| 7 | g.21543351G>A | CA366931145 | DNAH11 | c.106G>A (p.Glu36Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21543351G>C | CA155057757 | DNAH11 | c.106G>C (p.Glu36Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21543363_21543365dup | CA454138892 | DNAH11 | c.118_120dup (p.Glu40_Asn41insGlu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21543351_21543365dup | CA2681975860 | DNAH11 | c.106_120dup (p.Glu40_Asn41insGluGluGluGluGlu)
| gnomAD v4 |
| 7 | g.21543363_21543365del | CA4178616 | DNAH11 | c.118_120del (p.Glu40del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21543352A>G | CA4178617 | DNAH11 | c.107A>G (p.Glu36Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21543353G>A | CA454138894 | DNAH11 | c.108G>A (p.Glu36=)
| dbSNP gnomAD v3 gnomAD v4 |
