Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21880869C>A | CA366964202 | DNAH11 | c.12363C>A (p.Tyr4121Ter) c.12384C>A (p.Tyr4128Ter) | |
7 | g.21880869C= | CA1693712842 | DNAH11 | c.12363C= (p.Tyr4121=) c.12384C= (p.Tyr4128=) | |
7 | g.21880869C>G | CA340594 | DNAH11 | c.12363C>G (p.Tyr4121Ter) c.12384C>G (p.Tyr4128Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880869C>T | CA453967958 | DNAH11 | c.12363C>T (p.Tyr4121=) c.12384C>T (p.Tyr4128=) | |
7 | g.21880870A>C | CA366964203 | DNAH11 | c.12364A>C (p.Asn4122His) c.12385A>C (p.Asn4129His) | |
7 | g.21880870A>G | CA366964204 | DNAH11 | c.12364A>G (p.Asn4122Asp) c.12385A>G (p.Asn4129Asp) | COSMIC COSMIC |
7 | g.21880870A>T | CA366964205 | DNAH11 | c.12364A>T (p.Asn4122Tyr) c.12385A>T (p.Asn4129Tyr) | |
7 | g.21880871A= | CA1693712847 | DNAH11 | c.12365A= (p.Asn4122=) c.12386A= (p.Asn4129=) | |
7 | g.21880871A>C | CA366964206 | DNAH11 | c.12365A>C (p.Asn4122Thr) c.12386A>C (p.Asn4129Thr) | dbSNP |
7 | g.21880871A>G | CA4183042 | DNAH11 | c.12365A>G (p.Asn4122Ser) c.12386A>G (p.Asn4129Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880871A>T | CA366964207 | DNAH11 | c.12365A>T (p.Asn4122Ile) c.12386A>T (p.Asn4129Ile) | |
7 | g.21880872C>A | CA366964208 | DNAH11 | c.12366C>A (p.Asn4122Lys) c.12387C>A (p.Asn4129Lys) | COSMIC COSMIC |
7 | g.21880872C>G | CA366964209 | DNAH11 | c.12366C>G (p.Asn4122Lys) c.12387C>G (p.Asn4129Lys) | |
7 | g.21880872C>T | CA453967959 | DNAH11 | c.12366C>T (p.Asn4122=) c.12387C>T (p.Asn4129=) | gnomAD v4 |
7 | g.21880872_21880873delinsCT | CA1693712850 | DNAH11 | c.12366_12367delinsCT (p.Asn4122=) c.12387_12388delinsCT (p.Asn4129=) | |
7 | g.21880873del | CA4183043 | DNAH11 | c.12367del (p.Tyr4123ThrfsTer2) c.12388del (p.Tyr4130ThrfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880873T>A | CA366964210 | DNAH11 | c.12367T>A (p.Tyr4123Asn) c.12388T>A (p.Tyr4130Asn) | |
7 | g.21880873T>C | CA366964211 | DNAH11 | c.12367T>C (p.Tyr4123His) c.12388T>C (p.Tyr4130His) | gnomAD v4 |
7 | g.21880873T>G | CA366964212 | DNAH11 | c.12367T>G (p.Tyr4123Asp) c.12388T>G (p.Tyr4130Asp) | |
7 | g.21880874A= | CA1693712854 | DNAH11 | c.12368A= (p.Tyr4123=) c.12389A= (p.Tyr4130=) | |
7 | g.21880874A>C | CA366964213 | DNAH11 | c.12368A>C (p.Tyr4123Ser) c.12389A>C (p.Tyr4130Ser) | |
7 | g.21880874A>G | CA4183044 | DNAH11 | c.12368A>G (p.Tyr4123Cys) c.12389A>G (p.Tyr4130Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880874A>T | CA366964214 | DNAH11 | c.12368A>T (p.Tyr4123Phe) c.12389A>T (p.Tyr4130Phe) | |
7 | g.21880875C>A | CA366964215 | DNAH11 | c.12369C>A (p.Tyr4123Ter) c.12390C>A (p.Tyr4130Ter) | |
7 | g.21880875C>G | CA366964216 | DNAH11 | c.12369C>G (p.Tyr4123Ter) c.12390C>G (p.Tyr4130Ter) | |
7 | g.21880875C>T | CA453967960 | DNAH11 | c.12369C>T (p.Tyr4123=) c.12390C>T (p.Tyr4130=) | gnomAD v4 |
7 | g.21880876T>A | CA366964217 | DNAH11 | c.12370T>A (p.Leu4124Ile) c.12391T>A (p.Leu4131Ile) | |
7 | g.21880876T>C | CA453967961 | DNAH11 | c.12370T>C (p.Leu4124=) c.12391T>C (p.Leu4131=) | |
7 | g.21880876T>G | CA4183045 | DNAH11 | c.12370T>G (p.Leu4124Val) c.12391T>G (p.Leu4131Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880876T= | CA1693712856 | DNAH11 | c.12370T= (p.Leu4124=) c.12391T= (p.Leu4131=) | |
7 | g.21880877T>A | CA366964218 | DNAH11 | c.12371T>A (p.Leu4124Ter) c.12392T>A (p.Leu4131Ter) | |
7 | g.21880877T>C | CA366964219 | DNAH11 | c.12371T>C (p.Leu4124Ser) c.12392T>C (p.Leu4131Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880877T>G | CA366964220 | DNAH11 | c.12371T>G (p.Leu4124Ter) c.12392T>G (p.Leu4131Ter) | |
7 | g.21880877T= | CA1693712858 | DNAH11 | c.12371T= (p.Leu4124=) c.12392T= (p.Leu4131=) | |
7 | g.21880878A>C | CA366964222 | DNAH11 | c.12372A>C (p.Leu4124Phe) c.12393A>C (p.Leu4131Phe) | |
7 | g.21880878A>G | CA453967962 | DNAH11 | c.12372A>G (p.Leu4124=) c.12393A>G (p.Leu4131=) | |
7 | g.21880878A>T | CA366964221 | DNAH11 | c.12372A>T (p.Leu4124Phe) c.12393A>T (p.Leu4131Phe) | |
7 | g.21880879G>A | CA155158848 | DNAH11 | c.12373G>A (p.Glu4125Lys) c.12394G>A (p.Glu4132Lys) | dbSNP gnomAD v4 |
7 | g.21880879G>C | CA366964223 | DNAH11 | c.12373G>C (p.Glu4125Gln) c.12394G>C (p.Glu4132Gln) | gnomAD v4 |
7 | g.21880879G= | CA1693712860 | DNAH11 | c.12373G= (p.Glu4125=) c.12394G= (p.Glu4132=) | |
7 | g.21880879G>T | CA366964224 | DNAH11 | c.12373G>T (p.Glu4125Ter) c.12394G>T (p.Glu4132Ter) | |
7 | g.21880880A>C | CA366964225 | DNAH11 | c.12374A>C (p.Glu4125Ala) c.12395A>C (p.Glu4132Ala) | |
7 | g.21880880A>G | CA366964226 | DNAH11 | c.12374A>G (p.Glu4125Gly) c.12395A>G (p.Glu4132Gly) | |
7 | g.21880880A>T | CA366964227 | DNAH11 | c.12374A>T (p.Glu4125Val) c.12395A>T (p.Glu4132Val) | |
7 | g.21880881G>A | CA453967963 | DNAH11 | c.12375G>A (p.Glu4125=) c.12396G>A (p.Glu4132=) | ClinVar |
7 | g.21880881G>C | CA10623643 | DNAH11 | c.12375G>C (p.Glu4125Asp) c.12396G>C (p.Glu4132Asp) | ClinVar dbSNP |
7 | g.21880881G= | CA1693712865 | DNAH11 | c.12375G= (p.Glu4125=) c.12396G= (p.Glu4132=) | |
7 | g.21880881G>T | CA366964228 | DNAH11 | c.12375G>T (p.Glu4125Asp) c.12396G>T (p.Glu4132Asp) | |
7 | g.21880882G>A | CA4183046 | DNAH11 | c.12376G>A (p.Ala4126Thr) c.12397G>A (p.Ala4133Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880882G>C | CA366964229 | DNAH11 | c.12376G>C (p.Ala4126Pro) c.12397G>C (p.Ala4133Pro) |