Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.27183402C>ACA2579318941TEKc.1031-57C>A (n.1031-57C>A)
c.902-57C>A (n.902-57C>A)
c.461-57C>A (n.461-57C>A)
c.590-57C>A (n.590-57C>A)
9g.27183402C>TCA2689641748TEKc.1031-57C>T (n.1031-57C>T)
c.902-57C>T (n.902-57C>T)
c.461-57C>T (n.461-57C>T)
c.590-57C>T (n.590-57C>T)
 gnomAD v4
9g.27183404A=CA1842031055TEKc.1031-55A= (n.1031-55A=)
c.902-55A= (n.902-55A=)
c.461-55A= (n.461-55A=)
c.590-55A= (n.590-55A=)
9g.27183404A>CCA862746814TEKc.1031-55A>C (n.1031-55A>C)
c.902-55A>C (n.902-55A>C)
c.461-55A>C (n.461-55A>C)
c.590-55A>C (n.590-55A>C)
 dbSNP gnomAD v3 gnomAD v4
9g.27183404A>GCA191331494TEKc.1031-55A>G (n.1031-55A>G)
c.902-55A>G (n.902-55A>G)
c.461-55A>G (n.461-55A>G)
c.590-55A>G (n.590-55A>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.27183404A>TCA2579318942TEKc.1031-55A>T (n.1031-55A>T)
c.902-55A>T (n.902-55A>T)
c.461-55A>T (n.461-55A>T)
c.590-55A>T (n.590-55A>T)
 gnomAD v4
9g.27183405C>GCA2719041747TEKc.1031-54C>G (n.1031-54C>G)
c.902-54C>G (n.902-54C>G)
c.461-54C>G (n.461-54C>G)
c.590-54C>G (n.590-54C>G)
 dbSNP
9g.27183405_27183444delCA2689641749TEKc.1031-54_1031-15del (n.1031-54_1031-15del)
c.902-54_902-15del (n.902-54_902-15del)
c.461-54_461-15del (n.461-54_461-15del)
c.590-54_590-15del (n.590-54_590-15del)
 gnomAD v4
9g.27183407G>CCA862746817TEKc.1031-52G>C (n.1031-52G>C)
c.902-52G>C (n.902-52G>C)
c.461-52G>C (n.461-52G>C)
c.590-52G>C (n.590-52G>C)
 dbSNP gnomAD v4
9g.27183407G=CA1842031056TEKc.1031-52G= (n.1031-52G=)
c.902-52G= (n.902-52G=)
c.461-52G= (n.461-52G=)
c.590-52G= (n.590-52G=)
9g.27183408C>ACA2689641750TEKc.1031-51C>A (n.1031-51C>A)
c.902-51C>A (n.902-51C>A)
c.461-51C>A (n.461-51C>A)
c.590-51C>A (n.590-51C>A)
 gnomAD v4
9g.27183409T>ACA5016094TEKc.1031-50T>A (n.1031-50T>A)
c.902-50T>A (n.902-50T>A)
c.461-50T>A (n.461-50T>A)
c.590-50T>A (n.590-50T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183409T=CA1842031057TEKc.1031-50T= (n.1031-50T=)
c.902-50T= (n.902-50T=)
c.461-50T= (n.461-50T=)
c.590-50T= (n.590-50T=)
9g.27183410G>ACA1842031059TEKc.1031-49G>A (n.1031-49G>A)
c.902-49G>A (n.902-49G>A)
c.461-49G>A (n.461-49G>A)
c.590-49G>A (n.590-49G>A)
 dbSNP
9g.27183410G>CCA5016095TEKc.1031-49G>C (n.1031-49G>C)
c.902-49G>C (n.902-49G>C)
c.461-49G>C (n.461-49G>C)
c.590-49G>C (n.590-49G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183410G=CA1842031058TEKc.1031-49G= (n.1031-49G=)
c.902-49G= (n.902-49G=)
c.461-49G= (n.461-49G=)
c.590-49G= (n.590-49G=)
9g.27183410G>TCA862746822TEKc.1031-49G>T (n.1031-49G>T)
c.902-49G>T (n.902-49G>T)
c.461-49G>T (n.461-49G>T)
c.590-49G>T (n.590-49G>T)
 dbSNP
9g.27183411C>ACA2579318943TEKc.1031-48C>A (n.1031-48C>A)
c.902-48C>A (n.902-48C>A)
c.461-48C>A (n.461-48C>A)
c.590-48C>A (n.590-48C>A)
9g.27183413G>ACA2689641751TEKc.1031-46G>A (n.1031-46G>A)
c.902-46G>A (n.902-46G>A)
c.461-46G>A (n.461-46G>A)
c.590-46G>A (n.590-46G>A)
 gnomAD v4
9g.27183414G>ACA587124569TEKc.1031-45G>A (n.1031-45G>A)
c.902-45G>A (n.902-45G>A)
c.461-45G>A (n.461-45G>A)
c.590-45G>A (n.590-45G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.27183414G>CCA2579318944TEKc.1031-45G>C (n.1031-45G>C)
c.902-45G>C (n.902-45G>C)
c.461-45G>C (n.461-45G>C)
c.590-45G>C (n.590-45G>C)
 gnomAD v4
9g.27183414G=CA1842031060TEKc.1031-45G= (n.1031-45G=)
c.902-45G= (n.902-45G=)
c.461-45G= (n.461-45G=)
c.590-45G= (n.590-45G=)
9g.27183415C>ACA2579318945TEKc.1031-44C>A (n.1031-44C>A)
c.902-44C>A (n.902-44C>A)
c.461-44C>A (n.461-44C>A)
c.590-44C>A (n.590-44C>A)
9g.27183415C=CA1842031061TEKc.1031-44C= (n.1031-44C=)
c.902-44C= (n.902-44C=)
c.461-44C= (n.461-44C=)
c.590-44C= (n.590-44C=)
9g.27183415C>TCA587124570TEKc.1031-44C>T (n.1031-44C>T)
c.902-44C>T (n.902-44C>T)
c.461-44C>T (n.461-44C>T)
c.590-44C>T (n.590-44C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.27183417C>ACA2689641752TEKc.1031-42C>A (n.1031-42C>A)
c.902-42C>A (n.902-42C>A)
c.461-42C>A (n.461-42C>A)
c.590-42C>A (n.590-42C>A)
 dbSNP gnomAD v4
9g.27183417C=CA1842031062TEKc.1031-42C= (n.1031-42C=)
c.902-42C= (n.902-42C=)
c.461-42C= (n.461-42C=)
c.590-42C= (n.590-42C=)
9g.27183417C>TCA5016096TEKc.1031-42C>T (n.1031-42C>T)
c.902-42C>T (n.902-42C>T)
c.461-42C>T (n.461-42C>T)
c.590-42C>T (n.590-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183419G>ACA1842031064TEKc.1031-40G>A (n.1031-40G>A)
c.902-40G>A (n.902-40G>A)
c.461-40G>A (n.461-40G>A)
c.590-40G>A (n.590-40G>A)
 dbSNP
9g.27183419G=CA1842031063TEKc.1031-40G= (n.1031-40G=)
c.902-40G= (n.902-40G=)
c.461-40G= (n.461-40G=)
c.590-40G= (n.590-40G=)
9g.27183420T>CCA5016097TEKc.1031-39T>C (n.1031-39T>C)
c.902-39T>C (n.902-39T>C)
c.461-39T>C (n.461-39T>C)
c.590-39T>C (n.590-39T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183420T=CA1842031065TEKc.1031-39T= (n.1031-39T=)
c.902-39T= (n.902-39T=)
c.461-39T= (n.461-39T=)
c.590-39T= (n.590-39T=)
9g.27183423A=CA1842031066TEKc.1031-36A= (n.1031-36A=)
c.902-36A= (n.902-36A=)
c.461-36A= (n.461-36A=)
c.590-36A= (n.590-36A=)
9g.27183423A>TCA1842031067TEKc.1031-36A>T (n.1031-36A>T)
c.902-36A>T (n.902-36A>T)
c.461-36A>T (n.461-36A>T)
c.590-36A>T (n.590-36A>T)
 dbSNP
9g.27183424A=CA1842031069TEKc.1031-35A= (n.1031-35A=)
c.902-35A= (n.902-35A=)
c.461-35A= (n.461-35A=)
c.590-35A= (n.590-35A=)
9g.27183424A>GCA1842031068TEKc.1031-35A>G (n.1031-35A>G)
c.902-35A>G (n.902-35A>G)
c.461-35A>G (n.461-35A>G)
c.590-35A>G (n.590-35A>G)
 dbSNP
9g.27183425T>CCA2689641753TEKc.1031-34T>C (n.1031-34T>C)
c.902-34T>C (n.902-34T>C)
c.461-34T>C (n.461-34T>C)
c.590-34T>C (n.590-34T>C)
 gnomAD v4
9g.27183429A>GCA2579318946TEKc.1031-30A>G (n.1031-30A>G)
c.902-30A>G (n.902-30A>G)
c.461-30A>G (n.461-30A>G)
c.590-30A>G (n.590-30A>G)
 gnomAD v4
9g.27183430G>CCA587124571TEKc.1031-29G>C (n.1031-29G>C)
c.902-29G>C (n.902-29G>C)
c.461-29G>C (n.461-29G>C)
c.590-29G>C (n.590-29G>C)
 dbSNP gnomAD v2 gnomAD v4
9g.27183430G=CA1842031070TEKc.1031-29G= (n.1031-29G=)
c.902-29G= (n.902-29G=)
c.461-29G= (n.461-29G=)
c.590-29G= (n.590-29G=)
9g.27183430G>TCA2579318947TEKc.1031-29G>T (n.1031-29G>T)
c.902-29G>T (n.902-29G>T)
c.461-29G>T (n.461-29G>T)
c.590-29G>T (n.590-29G>T)
 gnomAD v4
9g.27183431A>GCA2579318948TEKc.1031-28A>G (n.1031-28A>G)
c.902-28A>G (n.902-28A>G)
c.461-28A>G (n.461-28A>G)
c.590-28A>G (n.590-28A>G)
 gnomAD v4
9g.27183432T>GCA1122573772TEKc.1031-27T>G (n.1031-27T>G)
c.902-27T>G (n.902-27T>G)
c.461-27T>G (n.461-27T>G)
c.590-27T>G (n.590-27T>G)
 dbSNP gnomAD v3 gnomAD v4
9g.27183432T=CA1842031071TEKc.1031-27T= (n.1031-27T=)
c.902-27T= (n.902-27T=)
c.461-27T= (n.461-27T=)
c.590-27T= (n.590-27T=)
9g.27183435C>ACA2689641754TEKc.1031-24C>A (n.1031-24C>A)
c.902-24C>A (n.902-24C>A)
c.461-24C>A (n.461-24C>A)
c.590-24C>A (n.590-24C>A)
 gnomAD v4
9g.27183435C=CA1842031072TEKc.1031-24C= (n.1031-24C=)
c.902-24C= (n.902-24C=)
c.461-24C= (n.461-24C=)
c.590-24C= (n.590-24C=)
9g.27183435C>TCA5016098TEKc.1031-24C>T (n.1031-24C>T)
c.902-24C>T (n.902-24C>T)
c.461-24C>T (n.461-24C>T)
c.590-24C>T (n.590-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183437C=CA1842031073TEKc.1031-22C= (n.1031-22C=)
c.902-22C= (n.902-22C=)
c.461-22C= (n.461-22C=)
c.590-22C= (n.590-22C=)
9g.27183437C>TCA5016099TEKc.1031-22C>T (n.1031-22C>T)
c.902-22C>T (n.902-22C>T)
c.461-22C>T (n.461-22C>T)
c.590-22C>T (n.590-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183438A=CA1842031074TEKc.1031-21A= (n.1031-21A=)
c.902-21A= (n.902-21A=)
c.461-21A= (n.461-21A=)
c.590-21A= (n.590-21A=)
9g.27183438A>CCA587124572TEKc.1031-21A>C (n.1031-21A>C)
c.902-21A>C (n.902-21A>C)
c.461-21A>C (n.461-21A>C)
c.590-21A>C (n.590-21A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27183439G>ACA2689641756TEKc.1031-20G>A (n.1031-20G>A)
c.902-20G>A (n.902-20G>A)
c.461-20G>A (n.461-20G>A)
c.590-20G>A (n.590-20G>A)
 gnomAD v4
9g.27183439G>CCA2689641755TEKc.1031-20G>C (n.1031-20G>C)
c.902-20G>C (n.902-20G>C)
c.461-20G>C (n.461-20G>C)
c.590-20G>C (n.590-20G>C)
 gnomAD v4
9g.27183440T>CCA5016100TEKc.1031-19T>C (n.1031-19T>C)
c.902-19T>C (n.902-19T>C)
c.461-19T>C (n.461-19T>C)
c.590-19T>C (n.590-19T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.27183440T>GCA2689641757TEKc.1031-19T>G (n.1031-19T>G)
c.902-19T>G (n.902-19T>G)
c.461-19T>G (n.461-19T>G)
c.590-19T>G (n.590-19T>G)
 gnomAD v4
9g.27183440T=CA1842031075TEKc.1031-19T= (n.1031-19T=)
c.902-19T= (n.902-19T=)
c.461-19T= (n.461-19T=)
c.590-19T= (n.590-19T=)
9g.27183441G>ACA5016101TEKc.1031-18G>A (n.1031-18G>A)
c.902-18G>A (n.902-18G>A)
c.461-18G>A (n.461-18G>A)
c.590-18G>A (n.590-18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183441G=CA1842031076TEKc.1031-18G= (n.1031-18G=)
c.902-18G= (n.902-18G=)
c.461-18G= (n.461-18G=)
c.590-18G= (n.590-18G=)
9g.27183442C>ACA191331555TEKc.1031-17C>A (n.1031-17C>A)
c.902-17C>A (n.902-17C>A)
c.461-17C>A (n.461-17C>A)
c.590-17C>A (n.590-17C>A)
 dbSNP gnomAD v3 gnomAD v4
9g.27183442C=CA1842031077TEKc.1031-17C= (n.1031-17C=)
c.902-17C= (n.902-17C=)
c.461-17C= (n.461-17C=)
c.590-17C= (n.590-17C=)
9g.27183443T>CCA5016102TEKc.1031-16T>C (n.1031-16T>C)
c.902-16T>C (n.902-16T>C)
c.461-16T>C (n.461-16T>C)
c.590-16T>C (n.590-16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183443T=CA1842031078TEKc.1031-16T= (n.1031-16T=)
c.902-16T= (n.902-16T=)
c.461-16T= (n.461-16T=)
c.590-16T= (n.590-16T=)
9g.27183444G>ACA5016104TEKc.1031-15G>A (n.1031-15G>A)
c.902-15G>A (n.902-15G>A)
c.461-15G>A (n.461-15G>A)
c.590-15G>A (n.590-15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183444G=CA1842031079TEKc.1031-15G= (n.1031-15G=)
c.902-15G= (n.902-15G=)
c.461-15G= (n.461-15G=)
c.590-15G= (n.590-15G=)
9g.27183444G>TCA5016103TEKc.1031-15G>T (n.1031-15G>T)
c.902-15G>T (n.902-15G>T)
c.461-15G>T (n.461-15G>T)
c.590-15G>T (n.590-15G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183446T>ACA5016105TEKc.1031-13T>A (n.1031-13T>A)
c.902-13T>A (n.902-13T>A)
c.461-13T>A (n.461-13T>A)
c.590-13T>A (n.590-13T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183446T>GCA2689641758TEKc.1031-13T>G (n.1031-13T>G)
c.902-13T>G (n.902-13T>G)
c.461-13T>G (n.461-13T>G)
c.590-13T>G (n.590-13T>G)
 gnomAD v4
9g.27183446T=CA1842031080TEKc.1031-13T= (n.1031-13T=)
c.902-13T= (n.902-13T=)
c.461-13T= (n.461-13T=)
c.590-13T= (n.590-13T=)
9g.27183447T>ACA2689641759TEKc.1031-12T>A (n.1031-12T>A)
c.902-12T>A (n.902-12T>A)
c.461-12T>A (n.461-12T>A)
c.590-12T>A (n.590-12T>A)
 gnomAD v4
9g.27183448T>GCA5016106TEKc.1031-11T>G (n.1031-11T>G)
c.902-11T>G (n.902-11T>G)
c.461-11T>G (n.461-11T>G)
c.590-11T>G (n.590-11T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183448T=CA1842031081TEKc.1031-11T= (n.1031-11T=)
c.902-11T= (n.902-11T=)
c.461-11T= (n.461-11T=)
c.590-11T= (n.590-11T=)
9g.27183449C=CA1842031082TEKc.1031-10C= (n.1031-10C=)
c.902-10C= (n.902-10C=)
c.461-10C= (n.461-10C=)
c.590-10C= (n.590-10C=)
9g.27183449C>TCA5016107TEKc.1031-10C>T (n.1031-10C>T)
c.902-10C>T (n.902-10C>T)
c.461-10C>T (n.461-10C>T)
c.590-10C>T (n.590-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183450T>ACA5016109TEKc.1031-9T>A (n.1031-9T>A)
c.902-9T>A (n.902-9T>A)
c.461-9T>A (n.461-9T>A)
c.590-9T>A (n.590-9T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183450T>CCA5016108TEKc.1031-9T>C (n.1031-9T>C)
c.902-9T>C (n.902-9T>C)
c.461-9T>C (n.461-9T>C)
c.590-9T>C (n.590-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183450T=CA1842031083TEKc.1031-9T= (n.1031-9T=)
c.902-9T= (n.902-9T=)
c.461-9T= (n.461-9T=)
c.590-9T= (n.590-9T=)
9g.27183453C>ACA2689641760TEKc.1031-6C>A (n.1031-6C>A)
c.902-6C>A (n.902-6C>A)
c.461-6C>A (n.461-6C>A)
c.590-6C>A (n.590-6C>A)
 gnomAD v4
9g.27183453C=CA1842031084TEKc.1031-6C= (n.1031-6C=)
c.902-6C= (n.902-6C=)
c.461-6C= (n.461-6C=)
c.590-6C= (n.590-6C=)
9g.27183453C>TCA587124573TEKc.1031-6C>T (n.1031-6C>T)
c.902-6C>T (n.902-6C>T)
c.461-6C>T (n.461-6C>T)
c.590-6C>T (n.590-6C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27183454T>GCA5016110TEKc.1031-5T>G (n.1031-5T>G)
c.902-5T>G (n.902-5T>G)
c.461-5T>G (n.461-5T>G)
c.590-5T>G (n.590-5T>G)
 dbSNP ExAC gnomAD v2
9g.27183454T=CA1842031085TEKc.1031-5T= (n.1031-5T=)
c.902-5T= (n.902-5T=)
c.461-5T= (n.461-5T=)
c.590-5T= (n.590-5T=)
9g.27183455T>GCA5016111TEKc.1031-4T>G (n.1031-4T>G)
c.902-4T>G (n.902-4T>G)
c.461-4T>G (n.461-4T>G)
c.590-4T>G (n.590-4T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183455T=CA1842031086TEKc.1031-4T= (n.1031-4T=)
c.902-4T= (n.902-4T=)
c.461-4T= (n.461-4T=)
c.590-4T= (n.590-4T=)
9g.27183456C=CA1842031087TEKc.1031-3C= (n.1031-3C=)
c.902-3C= (n.902-3C=)
c.461-3C= (n.461-3C=)
c.590-3C= (n.590-3C=)
9g.27183456C>TCA587124574TEKc.1031-3C>T (n.1031-3C>T)
c.902-3C>T (n.902-3C>T)
c.461-3C>T (n.461-3C>T)
c.590-3C>T (n.590-3C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.27183457A>CCA373129722TEKc.1031-2A>C (n.1031-2A>C)
c.902-2A>C (n.902-2A>C)
c.461-2A>C (n.461-2A>C)
c.590-2A>C (n.590-2A>C)
9g.27183457A>GCA373129724TEKc.1031-2A>G (n.1031-2A>G)
c.902-2A>G (n.902-2A>G)
c.461-2A>G (n.461-2A>G)
c.590-2A>G (n.590-2A>G)
9g.27183457A>TCA373129723TEKc.1031-2A>T (n.1031-2A>T)
c.902-2A>T (n.902-2A>T)
c.461-2A>T (n.461-2A>T)
c.590-2A>T (n.590-2A>T)
9g.27183458G>ACA373129725TEKc.1031-1G>A (n.1031-1G>A)
c.902-1G>A (n.902-1G>A)
c.461-1G>A (n.461-1G>A)
c.590-1G>A (n.590-1G>A)
9g.27183458G>CCA373129726TEKc.1031-1G>C (n.1031-1G>C)
c.902-1G>C (n.902-1G>C)
c.461-1G>C (n.461-1G>C)
c.590-1G>C (n.590-1G>C)
9g.27183458G>TCA373129727TEKc.1031-1G>T (n.1031-1G>T)
c.902-1G>T (n.902-1G>T)
c.461-1G>T (n.461-1G>T)
c.590-1G>T (n.590-1G>T)
9g.27183459delCA2783323183TEKc.1031del
c.902del
c.461del
c.590del
9g.27183459G>ACA373129728TEKc.1031G>A (p.Gly344Asp)
c.902G>A (p.Gly301Asp)
c.461G>A (p.Gly154Asp)
c.590G>A (p.Gly197Asp)
 gnomAD v4
9g.27183459G>CCA373129729TEKc.1031G>C (p.Gly344Ala)
c.902G>C (p.Gly301Ala)
c.461G>C (p.Gly154Ala)
c.590G>C (p.Gly197Ala)
9g.27183459G>TCA373129730TEKc.1031G>T (p.Gly344Val)
c.902G>T (p.Gly301Val)
c.461G>T (p.Gly154Val)
c.590G>T (p.Gly197Val)
9g.27183460C>ACA464170004TEKc.1032C>A (p.Gly344=)
c.903C>A (p.Gly301=)
c.462C>A (p.Gly154=)
c.591C>A (p.Gly197=)
9g.27183460C>GCA464170002TEKc.1032C>G (p.Gly344=)
c.903C>G (p.Gly301=)
c.462C>G (p.Gly154=)
c.591C>G (p.Gly197=)
9g.27183460C>TCA464170001TEKc.1032C>T (p.Gly344=)
c.903C>T (p.Gly301=)
c.462C>T (p.Gly154=)
c.591C>T (p.Gly197=)
9g.27183461A>CCA373129731TEKc.1033A>C (p.Ile345Leu)
c.904A>C (p.Ile302Leu)
c.463A>C (p.Ile155Leu)
c.592A>C (p.Ile198Leu)
 gnomAD v4
9g.27183461A>GCA373129732TEKc.1033A>G (p.Ile345Val)
c.904A>G (p.Ile302Val)
c.463A>G (p.Ile155Val)
c.592A>G (p.Ile198Val)
9g.27183461A>TCA373129733TEKc.1033A>T (p.Ile345Leu)
c.904A>T (p.Ile302Leu)
c.463A>T (p.Ile155Leu)
c.592A>T (p.Ile198Leu)
9g.27183462T>ACA373129734TEKc.1034T>A (p.Ile345Lys)
c.905T>A (p.Ile302Lys)
c.464T>A (p.Ile155Lys)
c.593T>A (p.Ile198Lys)
9g.27183462T>CCA373129735TEKc.1034T>C (p.Ile345Thr)
c.905T>C (p.Ile302Thr)
c.464T>C (p.Ile155Thr)
c.593T>C (p.Ile198Thr)
9g.27183462T>GCA373129737TEKc.1034T>G (p.Ile345Arg)
c.905T>G (p.Ile302Arg)
c.464T>G (p.Ile155Arg)
c.593T>G (p.Ile198Arg)
9g.27183463A>CCA464170006TEKc.1035A>C (p.Ile345=)
c.906A>C (p.Ile302=)
c.465A>C (p.Ile155=)
c.594A>C (p.Ile198=)
9g.27183463A>GCA373129739TEKc.1035A>G (p.Ile345Met)
c.906A>G (p.Ile302Met)
c.465A>G (p.Ile155Met)
c.594A>G (p.Ile198Met)
 gnomAD v4
9g.27183463A>TCA464170007TEKc.1035A>T (p.Ile345=)
c.906A>T (p.Ile302=)
c.465A>T (p.Ile155=)
c.594A>T (p.Ile198=)
9g.27183464C>ACA5016112TEKc.1036C>A (p.Gln346Lys)
c.907C>A (p.Gln303Lys)
c.466C>A (p.Gln156Lys)
c.595C>A (p.Gln199Lys)
c.1036C>A (p.Pro346Thr)
c.907C>A (p.Pro303Thr)
c.595C>A (p.Pro199Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183464C=CA1842031088TEKc.1036C= (p.Gln346=)
c.907C= (p.Gln303=)
c.466C= (p.Gln156=)
c.595C= (p.Gln199=)
c.1036C= (p.Pro346=)
c.907C= (p.Pro303=)
c.595C= (p.Pro199=)
9g.27183464C>GCA373129743TEKc.1036C>G (p.Gln346Glu)
c.907C>G (p.Gln303Glu)
c.466C>G (p.Gln156Glu)
c.595C>G (p.Gln199Glu)
c.1036C>G (p.Pro346Ala)
c.907C>G (p.Pro303Ala)
c.595C>G (p.Pro199Ala)
9g.27183464C>TCA373129741TEKc.1036C>T (p.Gln346Ter)
c.907C>T (p.Gln303Ter)
c.466C>T (p.Gln156Ter)
c.595C>T (p.Gln199Ter)
c.1036C>T (p.Pro346Ser)
c.907C>T (p.Pro303Ser)
c.595C>T (p.Pro199Ser)
 dbSNP gnomAD v4
9g.27183465A=CA1842031089TEKc.1037A= (p.Gln346=)
c.908A= (p.Gln303=)
c.467A= (p.Gln156=)
c.596A= (p.Gln199=)
9g.27183465A>CCA5016113TEKc.1037A>C (p.Gln346Pro)
c.908A>C (p.Gln303Pro)
c.467A>C (p.Gln156Pro)
c.596A>C (p.Gln199Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183465A>GCA373129747TEKc.1037A>G (p.Gln346Arg)
c.908A>G (p.Gln303Arg)
c.467A>G (p.Gln156Arg)
c.596A>G (p.Gln199Arg)
 dbSNP gnomAD v4
9g.27183465A>TCA5016114TEKc.1037A>T (p.Gln346Leu)
c.908A>T (p.Gln303Leu)
c.467A>T (p.Gln156Leu)
c.596A>T (p.Gln199Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183466delCA2689641761TEKc.1038del (p.Arg347GlyfsTer2)
c.909del (p.Arg304GlyfsTer2)
c.468del (p.Arg157GlyfsTer2)
c.597del (p.Arg200GlyfsTer2)
 gnomAD v4
9g.27183466G>ACA5016115TEKc.1038G>A (p.Gln346=)
c.909G>A (p.Gln303=)
c.468G>A (p.Gln156=)
c.597G>A (p.Gln199=)
c.1038G>A (p.Pro346=)
c.909G>A (p.Pro303=)
c.597G>A (p.Pro199=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183466G>CCA373129751TEKc.1038G>C (p.Gln346His)
c.909G>C (p.Gln303His)
c.468G>C (p.Gln156His)
c.597G>C (p.Gln199His)
c.1038G>C (p.Pro346=)
c.909G>C (p.Pro303=)
c.597G>C (p.Pro199=)
9g.27183466G=CA1842031090TEKc.1038G= (p.Gln346=)
c.909G= (p.Gln303=)
c.468G= (p.Gln156=)
c.597G= (p.Gln199=)
c.1038G= (p.Pro346=)
c.909G= (p.Pro303=)
c.597G= (p.Pro199=)
9g.27183466G>TCA373129753TEKc.1038G>T (p.Gln346His)
c.909G>T (p.Gln303His)
c.468G>T (p.Gln156His)
c.597G>T (p.Gln199His)
c.1038G>T (p.Pro346=)
c.909G>T (p.Pro303=)
c.597G>T (p.Pro199=)
9g.27183468_27183470delCA2689641762TEKc.1040_1042del (p.Arg347del)
c.911_913del (p.Arg304del)
c.470_472del (p.Arg157del)
c.599_601del (p.Arg200del)
 gnomAD v4
9g.27183467A>CCA464170012TEKc.1039A>C (p.Arg347=)
c.910A>C (p.Arg304=)
c.469A>C (p.Arg157=)
c.598A>C (p.Arg200=)
9g.27183467A>GCA373129755TEKc.1039A>G (p.Arg347Gly)
c.910A>G (p.Arg304Gly)
c.469A>G (p.Arg157Gly)
c.598A>G (p.Arg200Gly)
9g.27183467A>TCA373129757TEKc.1039A>T (p.Arg347Trp)
c.910A>T (p.Arg304Trp)
c.469A>T (p.Arg157Trp)
c.598A>T (p.Arg200Trp)
9g.27183468G>ACA373129759TEKc.1040G>A (p.Arg347Lys)
c.911G>A (p.Arg304Lys)
c.470G>A (p.Arg157Lys)
c.599G>A (p.Arg200Lys)
9g.27183468G>CCA373129760TEKc.1040G>C (p.Arg347Thr)
c.911G>C (p.Arg304Thr)
c.470G>C (p.Arg157Thr)
c.599G>C (p.Arg200Thr)
9g.27183468G=CA1842031091TEKc.1040G= (p.Arg347=)
c.911G= (p.Arg304=)
c.470G= (p.Arg157=)
c.599G= (p.Arg200=)
9g.27183468G>TCA5016116TEKc.1040G>T (p.Arg347Met)
c.911G>T (p.Arg304Met)
c.470G>T (p.Arg157Met)
c.599G>T (p.Arg200Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183469G>ACA464170018TEKc.1041G>A (p.Arg347=)
c.912G>A (p.Arg304=)
c.471G>A (p.Arg157=)
c.600G>A (p.Arg200=)
 COSMIC COSMIC
9g.27183469G>CCA373129763TEKc.1041G>C (p.Arg347Ser)
c.912G>C (p.Arg304Ser)
c.471G>C (p.Arg157Ser)
c.600G>C (p.Arg200Ser)
9g.27183469G>TCA373129764TEKc.1041G>T (p.Arg347Ser)
c.912G>T (p.Arg304Ser)
c.471G>T (p.Arg157Ser)
c.600G>T (p.Arg200Ser)
9g.27183470A=CA1842031092TEKc.1042A= (p.Met348=)
c.913A= (p.Met305=)
c.472A= (p.Met158=)
c.601A= (p.Met201=)
9g.27183470A>CCA373129769TEKc.1042A>C (p.Met348Leu)
c.913A>C (p.Met305Leu)
c.472A>C (p.Met158Leu)
c.601A>C (p.Met201Leu)
9g.27183470A>GCA373129770TEKc.1042A>G (p.Met348Val)
c.913A>G (p.Met305Val)
c.472A>G (p.Met158Val)
c.601A>G (p.Met201Val)
 dbSNP gnomAD v3 gnomAD v4
9g.27183470A>TCA373129767TEKc.1042A>T (p.Met348Leu)
c.913A>T (p.Met305Leu)
c.472A>T (p.Met158Leu)
c.601A>T (p.Met201Leu)
9g.27183471T>ACA373129773TEKc.1043T>A (p.Met348Lys)
c.914T>A (p.Met305Lys)
c.473T>A (p.Met158Lys)
c.602T>A (p.Met201Lys)
9g.27183471T>CCA373129775TEKc.1043T>C (p.Met348Thr)
c.914T>C (p.Met305Thr)
c.473T>C (p.Met158Thr)
c.602T>C (p.Met201Thr)
9g.27183471T>GCA373129777TEKc.1043T>G (p.Met348Arg)
c.914T>G (p.Met305Arg)
c.473T>G (p.Met158Arg)
c.602T>G (p.Met201Arg)
9g.27183472G>ACA373129779TEKc.1044G>A (p.Met348Ile)
c.915G>A (p.Met305Ile)
c.474G>A (p.Met158Ile)
c.603G>A (p.Met201Ile)
 dbSNP gnomAD v4
9g.27183472G>CCA373129780TEKc.1044G>C (p.Met348Ile)
c.915G>C (p.Met305Ile)
c.474G>C (p.Met158Ile)
c.603G>C (p.Met201Ile)
9g.27183472G=CA1842031093TEKc.1044G= (p.Met348=)
c.915G= (p.Met305=)
c.474G= (p.Met158=)
c.603G= (p.Met201=)
9g.27183472G>TCA5016117TEKc.1044G>T (p.Met348Ile)
c.915G>T (p.Met305Ile)
c.474G>T (p.Met158Ile)
c.603G>T (p.Met201Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183473A=CA1842031094TEKc.1045A= (p.Thr349=)
c.916A= (p.Thr306=)
c.475A= (p.Thr159=)
c.604A= (p.Thr202=)
9g.27183473A>CCA373129784TEKc.1045A>C (p.Thr349Pro)
c.916A>C (p.Thr306Pro)
c.475A>C (p.Thr159Pro)
c.604A>C (p.Thr202Pro)
9g.27183473A>GCA373129785TEKc.1045A>G (p.Thr349Ala)
c.916A>G (p.Thr306Ala)
c.475A>G (p.Thr159Ala)
c.604A>G (p.Thr202Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27183473A>TCA373129787TEKc.1045A>T (p.Thr349Ser)
c.916A>T (p.Thr306Ser)
c.475A>T (p.Thr159Ser)
c.604A>T (p.Thr202Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.27183474C>ACA373129789TEKc.1046C>A (p.Thr349Asn)
c.917C>A (p.Thr306Asn)
c.476C>A (p.Thr159Asn)
c.605C>A (p.Thr202Asn)
9g.27183474C=CA1842031095TEKc.1046C= (p.Thr349=)
c.917C= (p.Thr306=)
c.476C= (p.Thr159=)
c.605C= (p.Thr202=)
9g.27183474C>GCA373129791TEKc.1046C>G (p.Thr349Ser)
c.917C>G (p.Thr306Ser)
c.476C>G (p.Thr159Ser)
c.605C>G (p.Thr202Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.27183474C>TCA373129793TEKc.1046C>T (p.Thr349Ile)
c.917C>T (p.Thr306Ile)
c.476C>T (p.Thr159Ile)
c.605C>T (p.Thr202Ile)
 gnomAD v4
9g.27183475C>ACA464170025TEKc.1047C>A (p.Thr349=)
c.918C>A (p.Thr306=)
c.477C>A (p.Thr159=)
c.606C>A (p.Thr202=)
 gnomAD v4
9g.27183475C>GCA464170028TEKc.1047C>G (p.Thr349=)
c.918C>G (p.Thr306=)
c.477C>G (p.Thr159=)
c.606C>G (p.Thr202=)
9g.27183475C>TCA464170029TEKc.1047C>T (p.Thr349=)
c.918C>T (p.Thr306=)
c.477C>T (p.Thr159=)
c.606C>T (p.Thr202=)
9g.27183476C>ACA373129799TEKc.1048C>A (p.Pro350Thr)
c.919C>A (p.Pro307Thr)
c.478C>A (p.Pro160Thr)
c.607C>A (p.Pro203Thr)
9g.27183476C>GCA373129796TEKc.1048C>G (p.Pro350Ala)
c.919C>G (p.Pro307Ala)
c.478C>G (p.Pro160Ala)
c.607C>G (p.Pro203Ala)
9g.27183476C>TCA373129798TEKc.1048C>T (p.Pro350Ser)
c.919C>T (p.Pro307Ser)
c.478C>T (p.Pro160Ser)
c.607C>T (p.Pro203Ser)
9g.27183477C>ACA373129801TEKc.1049C>A (p.Pro350Gln)
c.920C>A (p.Pro307Gln)
c.479C>A (p.Pro160Gln)
c.608C>A (p.Pro203Gln)
9g.27183477C>GCA373129802TEKc.1049C>G (p.Pro350Arg)
c.920C>G (p.Pro307Arg)
c.479C>G (p.Pro160Arg)
c.608C>G (p.Pro203Arg)
9g.27183477C>TCA373129804TEKc.1049C>T (p.Pro350Leu)
c.920C>T (p.Pro307Leu)
c.479C>T (p.Pro160Leu)
c.608C>T (p.Pro203Leu)
9g.27183478A>CCA464170031TEKc.1050A>C (p.Pro350=)
c.921A>C (p.Pro307=)
c.480A>C (p.Pro160=)
c.609A>C (p.Pro203=)
9g.27183478A>GCA464170032TEKc.1050A>G (p.Pro350=)
c.921A>G (p.Pro307=)
c.480A>G (p.Pro160=)
c.609A>G (p.Pro203=)
 gnomAD v4
9g.27183478A>TCA464170033TEKc.1050A>T (p.Pro350=)
c.921A>T (p.Pro307=)
c.480A>T (p.Pro160=)
c.609A>T (p.Pro203=)
9g.27183479A>CCA373129806TEKc.1051A>C (p.Lys351Gln)
c.922A>C (p.Lys308Gln)
c.481A>C (p.Lys161Gln)
c.610A>C (p.Lys204Gln)
9g.27183479A>GCA373129808TEKc.1051A>G (p.Lys351Glu)
c.922A>G (p.Lys308Glu)
c.481A>G (p.Lys161Glu)
c.610A>G (p.Lys204Glu)
9g.27183479A>TCA373129810TEKc.1051A>T (p.Lys351Ter)
c.922A>T (p.Lys308Ter)
c.481A>T (p.Lys161Ter)
c.610A>T (p.Lys204Ter)
9g.27183480A=CA1842031096TEKc.1052A= (p.Lys351=)
c.923A= (p.Lys308=)
c.482A= (p.Lys161=)
c.611A= (p.Lys204=)
9g.27183480A>CCA373129811TEKc.1052A>C (p.Lys351Thr)
c.923A>C (p.Lys308Thr)
c.482A>C (p.Lys161Thr)
c.611A>C (p.Lys204Thr)
 gnomAD v4
9g.27183480A>GCA191331635TEKc.1052A>G (p.Lys351Arg)
c.923A>G (p.Lys308Arg)
c.482A>G (p.Lys161Arg)
c.611A>G (p.Lys204Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27183480A>TCA373129813TEKc.1052A>T (p.Lys351Met)
c.923A>T (p.Lys308Met)
c.482A>T (p.Lys161Met)
c.611A>T (p.Lys204Met)
9g.27183481G>ACA464170036TEKc.1053G>A (p.Lys351=)
c.924G>A (p.Lys308=)
c.483G>A (p.Lys161=)
c.612G>A (p.Lys204=)
 dbSNP gnomAD v4
9g.27183481G>CCA5016118TEKc.1053G>C (p.Lys351Asn)
c.924G>C (p.Lys308Asn)
c.483G>C (p.Lys161Asn)
c.612G>C (p.Lys204Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27183481G=CA1842031097TEKc.1053G= (p.Lys351=)
c.924G= (p.Lys308=)
c.483G= (p.Lys161=)
c.612G= (p.Lys204=)
9g.27183481G>TCA373129816TEKc.1053G>T (p.Lys351Asn)
c.924G>T (p.Lys308Asn)
c.483G>T (p.Lys161Asn)
c.612G>T (p.Lys204Asn)
 gnomAD v4
9g.27183482A=CA1842031098TEKc.1054A= (p.Ile352=)
c.925A= (p.Ile309=)
c.484A= (p.Ile162=)
c.613A= (p.Ile205=)
9g.27183482A>CCA373129821TEKc.1054A>C (p.Ile352Leu)
c.925A>C (p.Ile309Leu)
c.484A>C (p.Ile162Leu)
c.613A>C (p.Ile205Leu)
9g.27183482A>GCA373129822TEKc.1054A>G (p.Ile352Val)
c.925A>G (p.Ile309Val)
c.484A>G (p.Ile162Val)
c.613A>G (p.Ile205Val)
 dbSNP gnomAD v4
9g.27183482A>TCA373129819TEKc.1054A>T (p.Ile352Leu)
c.925A>T (p.Ile309Leu)
c.484A>T (p.Ile162Leu)
c.613A>T (p.Ile205Leu)
9g.27183483T>ACA373129824TEKc.1055T>A (p.Ile352Lys)
c.926T>A (p.Ile309Lys)
c.485T>A (p.Ile162Lys)
c.614T>A (p.Ile205Lys)
9g.27183483T>CCA5016119TEKc.1055T>C (p.Ile352Thr)
c.926T>C (p.Ile309Thr)
c.485T>C (p.Ile162Thr)
c.614T>C (p.Ile205Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183483T>GCA373129827TEKc.1055T>G (p.Ile352Arg)
c.926T>G (p.Ile309Arg)
c.485T>G (p.Ile162Arg)
c.614T>G (p.Ile205Arg)
 gnomAD v4
9g.27183483T=CA1842031099TEKc.1055T= (p.Ile352=)
c.926T= (p.Ile309=)
c.485T= (p.Ile162=)
c.614T= (p.Ile205=)
9g.27183484A>CCA464170042TEKc.1056A>C (p.Ile352=)
c.927A>C (p.Ile309=)
c.486A>C (p.Ile162=)
c.615A>C (p.Ile205=)
9g.27183484A>GCA373129829TEKc.1056A>G (p.Ile352Met)
c.927A>G (p.Ile309Met)
c.486A>G (p.Ile162Met)
c.615A>G (p.Ile205Met)
9g.27183484A>TCA464170043TEKc.1056A>T (p.Ile352=)
c.927A>T (p.Ile309=)
c.486A>T (p.Ile162=)
c.615A>T (p.Ile205=)
9g.27183485G>ACA373129831TEKc.1057G>A (p.Val353Met)
c.928G>A (p.Val310Met)
c.487G>A (p.Val163Met)
c.616G>A (p.Val206Met)
 gnomAD v4
9g.27183485G>CCA373129833TEKc.1057G>C (p.Val353Leu)
c.928G>C (p.Val310Leu)
c.487G>C (p.Val163Leu)
c.616G>C (p.Val206Leu)
9g.27183485G>TCA373129835TEKc.1057G>T (p.Val353Leu)
c.928G>T (p.Val310Leu)
c.487G>T (p.Val163Leu)
c.616G>T (p.Val206Leu)
9g.27183486T>ACA373129837TEKc.1058T>A (p.Val353Glu)
c.929T>A (p.Val310Glu)
c.488T>A (p.Val163Glu)
c.617T>A (p.Val206Glu)
9g.27183486T>CCA373129839TEKc.1058T>C (p.Val353Ala)
c.929T>C (p.Val310Ala)
c.488T>C (p.Val163Ala)
c.617T>C (p.Val206Ala)
9g.27183486T>GCA373129841TEKc.1058T>G (p.Val353Gly)
c.929T>G (p.Val310Gly)
c.488T>G (p.Val163Gly)
c.617T>G (p.Val206Gly)
9g.27183487G>ACA464170047TEKc.1059G>A (p.Val353=)
c.930G>A (p.Val310=)
c.489G>A (p.Val163=)
c.618G>A (p.Val206=)
 dbSNP gnomAD v2
9g.27183487G>CCA464170048TEKc.1059G>C (p.Val353=)
c.930G>C (p.Val310=)
c.489G>C (p.Val163=)
c.618G>C (p.Val206=)
9g.27183487G=CA1842031100TEKc.1059G= (p.Val353=)
c.930G= (p.Val310=)
c.489G= (p.Val163=)
c.618G= (p.Val206=)
9g.27183487G>TCA464170049TEKc.1059G>T (p.Val353=)
c.930G>T (p.Val310=)
c.489G>T (p.Val163=)
c.618G>T (p.Val206=)
9g.27183488G>ACA373129843TEKc.1060G>A (p.Asp354Asn)
c.931G>A (p.Asp311Asn)
c.490G>A (p.Asp164Asn)
c.619G>A (p.Asp207Asn)
 dbSNP
9g.27183488G>CCA373129845TEKc.1060G>C (p.Asp354His)
c.931G>C (p.Asp311His)
c.490G>C (p.Asp164His)
c.619G>C (p.Asp207His)
9g.27183488G=CA1842031101TEKc.1060G= (p.Asp354=)
c.931G= (p.Asp311=)
c.490G= (p.Asp164=)
c.619G= (p.Asp207=)
9g.27183488G>TCA373129847TEKc.1060G>T (p.Asp354Tyr)
c.931G>T (p.Asp311Tyr)
c.490G>T (p.Asp164Tyr)
c.619G>T (p.Asp207Tyr)
 dbSNP
9g.27183489A>CCA373129853TEKc.1061A>C (p.Asp354Ala)
c.932A>C (p.Asp311Ala)
c.491A>C (p.Asp164Ala)
c.620A>C (p.Asp207Ala)
9g.27183489A>GCA373129851TEKc.1061A>G (p.Asp354Gly)
c.932A>G (p.Asp311Gly)
c.491A>G (p.Asp164Gly)
c.620A>G (p.Asp207Gly)
9g.27183489A>TCA373129849TEKc.1061A>T (p.Asp354Val)
c.932A>T (p.Asp311Val)
c.491A>T (p.Asp164Val)
c.620A>T (p.Asp207Val)
9g.27183490T>ACA373129855TEKc.1062T>A (p.Asp354Glu)
c.933T>A (p.Asp311Glu)
c.492T>A (p.Asp164Glu)
c.621T>A (p.Asp207Glu)
9g.27183490T>CCA464170051TEKc.1062T>C (p.Asp354=)
c.933T>C (p.Asp311=)
c.492T>C (p.Asp164=)
c.621T>C (p.Asp207=)
9g.27183490T>GCA373129857TEKc.1062T>G (p.Asp354Glu)
c.933T>G (p.Asp311Glu)
c.492T>G (p.Asp164Glu)
c.621T>G (p.Asp207Glu)
9g.27183491T>ACA373129859TEKc.1063T>A (p.Leu355Met)
c.934T>A (p.Leu312Met)
c.493T>A (p.Leu165Met)
c.622T>A (p.Leu208Met)
9g.27183491T>CCA464170052TEKc.1063T>C (p.Leu355=)
c.934T>C (p.Leu312=)
c.493T>C (p.Leu165=)
c.622T>C (p.Leu208=)
9g.27183491T>GCA373129861TEKc.1063T>G (p.Leu355Val)
c.934T>G (p.Leu312Val)
c.493T>G (p.Leu165Val)
c.622T>G (p.Leu208Val)
9g.27183492T>ACA373129863TEKc.1064T>A (p.Leu355Ter)
c.935T>A (p.Leu312Ter)
c.494T>A (p.Leu165Ter)
c.623T>A (p.Leu208Ter)
9g.27183492T>CCA373129865TEKc.1064T>C (p.Leu355Ser)
c.935T>C (p.Leu312Ser)
c.494T>C (p.Leu165Ser)
c.623T>C (p.Leu208Ser)
9g.27183492T>GCA373129867TEKc.1064T>G (p.Leu355Trp)
c.935T>G (p.Leu312Trp)
c.494T>G (p.Leu165Trp)
c.623T>G (p.Leu208Trp)
9g.27183493G>ACA464170053TEKc.1065G>A (p.Leu355=)
c.936G>A (p.Leu312=)
c.495G>A (p.Leu165=)
c.624G>A (p.Leu208=)
9g.27183493G>CCA373129869TEKc.1065G>C (p.Leu355Phe)
c.936G>C (p.Leu312Phe)
c.495G>C (p.Leu165Phe)
c.624G>C (p.Leu208Phe)
9g.27183493G=CA1842031102TEKc.1065G= (p.Leu355=)
c.936G= (p.Leu312=)
c.495G= (p.Leu165=)
c.624G= (p.Leu208=)
9g.27183493G>TCA373129871TEKc.1065G>T (p.Leu355Phe)
c.936G>T (p.Leu312Phe)
c.495G>T (p.Leu165Phe)
c.624G>T (p.Leu208Phe)
 dbSNP gnomAD v4
9g.27183494C>ACA191331640TEKc.1066C>A (p.Pro356Thr)
c.937C>A (p.Pro313Thr)
c.496C>A (p.Pro166Thr)
c.625C>A (p.Pro209Thr)
 dbSNP
9g.27183494C=CA1842031103TEKc.1066C= (p.Pro356=)
c.937C= (p.Pro313=)
c.496C= (p.Pro166=)
c.625C= (p.Pro209=)
9g.27183494C>GCA373129874TEKc.1066C>G (p.Pro356Ala)
c.937C>G (p.Pro313Ala)
c.496C>G (p.Pro166Ala)
c.625C>G (p.Pro209Ala)
9g.27183494C>TCA373129876TEKc.1066C>T (p.Pro356Ser)
c.937C>T (p.Pro313Ser)
c.496C>T (p.Pro166Ser)
c.625C>T (p.Pro209Ser)
9g.27183495C>ACA373129878TEKc.1067C>A (p.Pro356Gln)
c.938C>A (p.Pro313Gln)
c.497C>A (p.Pro166Gln)
c.626C>A (p.Pro209Gln)
9g.27183495C>GCA373129880TEKc.1067C>G (p.Pro356Arg)
c.938C>G (p.Pro313Arg)
c.497C>G (p.Pro166Arg)
c.626C>G (p.Pro209Arg)
 dbSNP
9g.27183495C>TCA373129882TEKc.1067C>T (p.Pro356Leu)
c.938C>T (p.Pro313Leu)
c.497C>T (p.Pro166Leu)
c.626C>T (p.Pro209Leu)
 gnomAD v4
9g.27183496A>CCA464170059TEKc.1068A>C (p.Pro356=)
c.939A>C (p.Pro313=)
c.498A>C (p.Pro166=)
c.627A>C (p.Pro209=)
9g.27183496A>GCA464170061TEKc.1068A>G (p.Pro356=)
c.939A>G (p.Pro313=)
c.498A>G (p.Pro166=)
c.627A>G (p.Pro209=)
9g.27183496A>TCA464170063TEKc.1068A>T (p.Pro356=)
c.939A>T (p.Pro313=)
c.498A>T (p.Pro166=)
c.627A>T (p.Pro209=)
9g.27183497G>ACA373129886TEKc.1069G>A (p.Asp357Asn)
c.940G>A (p.Asp314Asn)
c.499G>A (p.Asp167Asn)
c.628G>A (p.Asp210Asn)
9g.27183497G>CCA373129888TEKc.1069G>C (p.Asp357His)
c.940G>C (p.Asp314His)
c.499G>C (p.Asp167His)
c.628G>C (p.Asp210His)
 dbSNP
9g.27183497G=CA1842031104TEKc.1069G= (p.Asp357=)
c.940G= (p.Asp314=)
c.499G= (p.Asp167=)
c.628G= (p.Asp210=)
9g.27183497G>TCA373129884TEKc.1069G>T (p.Asp357Tyr)
c.940G>T (p.Asp314Tyr)
c.499G>T (p.Asp167Tyr)
c.628G>T (p.Asp210Tyr)
9g.27183498A=CA1842031105TEKc.1070A= (p.Asp357=)
c.941A= (p.Asp314=)
c.500A= (p.Asp167=)
c.629A= (p.Asp210=)
9g.27183498A>CCA373129892TEKc.1070A>C (p.Asp357Ala)
c.941A>C (p.Asp314Ala)
c.500A>C (p.Asp167Ala)
c.629A>C (p.Asp210Ala)
9g.27183498A>GCA373129894TEKc.1070A>G (p.Asp357Gly)
c.941A>G (p.Asp314Gly)
c.500A>G (p.Asp167Gly)
c.629A>G (p.Asp210Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.27183498A>TCA373129897TEKc.1070A>T (p.Asp357Val)
c.941A>T (p.Asp314Val)
c.500A>T (p.Asp167Val)
c.629A>T (p.Asp210Val)
9g.27183499T>ACA373129900TEKc.1071T>A (p.Asp357Glu)
c.942T>A (p.Asp314Glu)
c.501T>A (p.Asp167Glu)
c.630T>A (p.Asp210Glu)
9g.27183499T>CCA464170068TEKc.1071T>C (p.Asp357=)
c.942T>C (p.Asp314=)
c.501T>C (p.Asp167=)
c.630T>C (p.Asp210=)
9g.27183499T>GCA373129902TEKc.1071T>G (p.Asp357Glu)
c.942T>G (p.Asp314Glu)
c.501T>G (p.Asp167Glu)
c.630T>G (p.Asp210Glu)
9g.27183500C>ACA373129906TEKc.1072C>A (p.His358Asn)
c.943C>A (p.His315Asn)
c.502C>A (p.His168Asn)
c.631C>A (p.His211Asn)
9g.27183500C=CA1842031106TEKc.1072C= (p.His358=)
c.943C= (p.His315=)
c.502C= (p.His168=)
c.631C= (p.His211=)
9g.27183500C>GCA373129909TEKc.1072C>G (p.His358Asp)
c.943C>G (p.His315Asp)
c.502C>G (p.His168Asp)
c.631C>G (p.His211Asp)
9g.27183500C>TCA5016120TEKc.1072C>T (p.His358Tyr)
c.943C>T (p.His315Tyr)
c.502C>T (p.His168Tyr)
c.631C>T (p.His211Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27183501A=CA1842031107TEKc.1073A= (p.His358=)
c.944A= (p.His315=)
c.503A= (p.His168=)
c.632A= (p.His211=)
9g.27183501A>CCA373129913TEKc.1073A>C (p.His358Pro)
c.944A>C (p.His315Pro)
c.503A>C (p.His168Pro)
c.632A>C (p.His211Pro)
9g.27183501A>GCA373129916TEKc.1073A>G (p.His358Arg)
c.944A>G (p.His315Arg)
c.503A>G (p.His168Arg)
c.632A>G (p.His211Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.27183501A>TCA373129920TEKc.1073A>T (p.His358Leu)
c.944A>T (p.His315Leu)
c.503A>T (p.His168Leu)
c.632A>T (p.His211Leu)
9g.27183502T>ACA373129922TEKc.1074T>A (p.His358Gln)
c.945T>A (p.His315Gln)
c.504T>A (p.His168Gln)
c.633T>A (p.His211Gln)
9g.27183502T>CCA464170074TEKc.1074T>C (p.His358=)
c.945T>C (p.His315=)
c.504T>C (p.His168=)
c.633T>C (p.His211=)
 dbSNP gnomAD v2 gnomAD v4
9g.27183502T>GCA373129925TEKc.1074T>G (p.His358Gln)
c.945T>G (p.His315Gln)
c.504T>G (p.His168Gln)
c.633T>G (p.His211Gln)
9g.27183502T=CA1842031108TEKc.1074T= (p.His358=)
c.945T= (p.His315=)
c.504T= (p.His168=)
c.633T= (p.His211=)

Number of alleles fetched