Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125318584A>CCA358119756FAT4c.2173A>C (p.Lys725Gln)
c.-55+2607A>C (n.-55+2607A>C)
4g.125318584A>GCA358119758FAT4c.2173A>G (p.Lys725Glu)
c.-55+2607A>G (n.-55+2607A>G)
4g.125318584A>TCA358119757FAT4c.2173A>T (p.Lys725Ter)
c.-55+2607A>T (n.-55+2607A>T)
 gnomAD v4
4g.125318585A>CCA358119759FAT4c.2174A>C (p.Lys725Thr)
c.-55+2608A>C (n.-55+2608A>C)
4g.125318585A>GCA358119760FAT4c.2174A>G (p.Lys725Arg)
c.-55+2608A>G (n.-55+2608A>G)
4g.125318585A>TCA358119761FAT4c.2174A>T (p.Lys725Ile)
c.-55+2608A>T (n.-55+2608A>T)
4g.125318586A>CCA358119762FAT4c.2175A>C (p.Lys725Asn)
c.-55+2609A>C (n.-55+2609A>C)
4g.125318586A>GCA441367023FAT4c.2175A>G (p.Lys725=)
c.-55+2609A>G (n.-55+2609A>G)
4g.125318586A>TCA358119763FAT4c.2175A>T (p.Lys725Asn)
c.-55+2609A>T (n.-55+2609A>T)
4g.125318587T>ACA358119765FAT4c.2176T>A (p.Tyr726Asn)
c.-55+2610T>A (n.-55+2610T>A)
4g.125318587T>CCA358119766FAT4c.2176T>C (p.Tyr726His)
c.-55+2610T>C (n.-55+2610T>C)
4g.125318587T>GCA358119764FAT4c.2176T>G (p.Tyr726Asp)
c.-55+2610T>G (n.-55+2610T>G)
4g.125318588A>CCA358119767FAT4c.2177A>C (p.Tyr726Ser)
c.-55+2611A>C (n.-55+2611A>C)
4g.125318588A>GCA358119768FAT4c.2177A>G (p.Tyr726Cys)
c.-55+2611A>G (n.-55+2611A>G)
4g.125318588A>TCA358119769FAT4c.2177A>T (p.Tyr726Phe)
c.-55+2611A>T (n.-55+2611A>T)
4g.125318589T>ACA358119770FAT4c.2178T>A (p.Tyr726Ter)
c.-55+2612T>A (n.-55+2612T>A)
4g.125318589T>CCA441367030FAT4c.2178T>C (p.Tyr726=)
c.-55+2612T>C (n.-55+2612T>C)
 ClinVar gnomAD v4
4g.125318589T>GCA358119771FAT4c.2178T>G (p.Tyr726Ter)
c.-55+2612T>G (n.-55+2612T>G)
4g.125318590A>CCA358119774FAT4c.2179A>C (p.Ser727Arg)
c.-55+2613A>C (n.-55+2613A>C)
4g.125318590A>GCA358119772FAT4c.2179A>G (p.Ser727Gly)
c.-55+2613A>G (n.-55+2613A>G)
 gnomAD v4
4g.125318590A>TCA358119773FAT4c.2179A>T (p.Ser727Cys)
c.-55+2613A>T (n.-55+2613A>T)
4g.125318591G>ACA358119775FAT4c.2180G>A (p.Ser727Asn)
c.-55+2614G>A (n.-55+2614G>A)
 COSMIC COSMIC
4g.125318591G>CCA358119776FAT4c.2180G>C (p.Ser727Thr)
c.-55+2614G>C (n.-55+2614G>C)
4g.125318591G>TCA358119777FAT4c.2180G>T (p.Ser727Ile)
c.-55+2614G>T (n.-55+2614G>T)
4g.125318592C>ACA358119778FAT4c.2181C>A (p.Ser727Arg)
c.-55+2615C>A (n.-55+2615C>A)
4g.125318592C>GCA358119779FAT4c.2181C>G (p.Ser727Arg)
c.-55+2615C>G (n.-55+2615C>G)
4g.125318592C>TCA441367039FAT4c.2181C>T (p.Ser727=)
c.-55+2615C>T (n.-55+2615C>T)
4g.125318593A=CA1491602514FAT4c.2182A= (p.Ile728=)
c.-55+2616A= (n.-55+2616A=)
4g.125318593A>CCA358119781FAT4c.2182A>C (p.Ile728Leu)
c.-55+2616A>C (n.-55+2616A>C)
4g.125318593A>GCA3072123FAT4c.2182A>G (p.Ile728Val)
c.-55+2616A>G (n.-55+2616A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318593A>TCA358119780FAT4c.2182A>T (p.Ile728Leu)
c.-55+2616A>T (n.-55+2616A>T)
 gnomAD v4
4g.125318594T>ACA358119782FAT4c.2183T>A (p.Ile728Lys)
c.-55+2617T>A (n.-55+2617T>A)
4g.125318594T>CCA358119783FAT4c.2183T>C (p.Ile728Thr)
c.-55+2617T>C (n.-55+2617T>C)
4g.125318594T>GCA358119784FAT4c.2183T>G (p.Ile728Arg)
c.-55+2617T>G (n.-55+2617T>G)
4g.125318595A=CA1491602518FAT4c.2184A= (p.Ile728=)
c.-55+2618A= (n.-55+2618A=)
4g.125318595A>CCA441367044FAT4c.2184A>C (p.Ile728=)
c.-55+2618A>C (n.-55+2618A>C)
4g.125318595A>GCA358119785FAT4c.2184A>G (p.Ile728Met)
c.-55+2618A>G (n.-55+2618A>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125318595A>TCA441367045FAT4c.2184A>T (p.Ile728=)
c.-55+2618A>T (n.-55+2618A>T)
4g.125318596T>ACA358119786FAT4c.2185T>A (p.Ser729Thr)
c.-55+2619T>A (n.-55+2619T>A)
4g.125318596T>CCA358119787FAT4c.2185T>C (p.Ser729Pro)
c.-55+2619T>C (n.-55+2619T>C)
4g.125318596T>GCA358119788FAT4c.2185T>G (p.Ser729Ala)
c.-55+2619T>G (n.-55+2619T>G)
4g.125318597C>ACA104864928FAT4c.2186C>A (p.Ser729Tyr)
c.-55+2620C>A (n.-55+2620C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318597C=CA1491602521FAT4c.2186C= (p.Ser729=)
c.-55+2620C= (n.-55+2620C=)
4g.125318597C>GCA358119789FAT4c.2186C>G (p.Ser729Cys)
c.-55+2620C>G (n.-55+2620C>G)
4g.125318597C>TCA358119790FAT4c.2186C>T (p.Ser729Phe)
c.-55+2620C>T (n.-55+2620C>T)
4g.125318598T>ACA441367050FAT4c.2187T>A (p.Ser729=)
c.-55+2621T>A (n.-55+2621T>A)
4g.125318598T>CCA441367051FAT4c.2187T>C (p.Ser729=)
c.-55+2621T>C (n.-55+2621T>C)
4g.125318598T>GCA441367052FAT4c.2187T>G (p.Ser729=)
c.-55+2621T>G (n.-55+2621T>G)
4g.125318599G>ACA358119791FAT4c.2188G>A (p.Ala730Thr)
c.-55+2622G>A (n.-55+2622G>A)
4g.125318599G>CCA358119792FAT4c.2188G>C (p.Ala730Pro)
c.-55+2622G>C (n.-55+2622G>C)
4g.125318599G>TCA358119793FAT4c.2188G>T (p.Ala730Ser)
c.-55+2622G>T (n.-55+2622G>T)
4g.125318600C>ACA358119796FAT4c.2189C>A (p.Ala730Asp)
c.-55+2623C>A (n.-55+2623C>A)
4g.125318600C=CA1491602522FAT4c.2189C= (p.Ala730=)
c.-55+2623C= (n.-55+2623C=)
4g.125318600C>GCA358119794FAT4c.2189C>G (p.Ala730Gly)
c.-55+2623C>G (n.-55+2623C>G)
4g.125318600C>TCA358119795FAT4c.2189C>T (p.Ala730Val)
c.-55+2623C>T (n.-55+2623C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125318601T>ACA441367055FAT4c.2190T>A (p.Ala730=)
c.-55+2624T>A (n.-55+2624T>A)
4g.125318601T>CCA441367057FAT4c.2190T>C (p.Ala730=)
c.-55+2624T>C (n.-55+2624T>C)
4g.125318601T>GCA441367059FAT4c.2190T>G (p.Ala730=)
c.-55+2624T>G (n.-55+2624T>G)
4g.125318602G>ACA358119797FAT4c.2191G>A (p.Gly731Arg)
c.-55+2625G>A (n.-55+2625G>A)
4g.125318602G>CCA358119798FAT4c.2191G>C (p.Gly731Arg)
c.-55+2625G>C (n.-55+2625G>C)
4g.125318602G>TCA358119799FAT4c.2191G>T (p.Gly731Trp)
c.-55+2625G>T (n.-55+2625G>T)
4g.125318603G>ACA358119800FAT4c.2192G>A (p.Gly731Glu)
c.-55+2626G>A (n.-55+2626G>A)
4g.125318603G>CCA358119801FAT4c.2192G>C (p.Gly731Ala)
c.-55+2626G>C (n.-55+2626G>C)
4g.125318603G>TCA358119802FAT4c.2192G>T (p.Gly731Val)
c.-55+2626G>T (n.-55+2626G>T)
4g.125318604G>ACA441367066FAT4c.2193G>A (p.Gly731=)
c.-55+2627G>A (n.-55+2627G>A)
4g.125318604G>CCA441367067FAT4c.2193G>C (p.Gly731=)
c.-55+2627G>C (n.-55+2627G>C)
4g.125318604G>TCA441367068FAT4c.2193G>T (p.Gly731=)
c.-55+2627G>T (n.-55+2627G>T)
4g.125318605G>ACA358119803FAT4c.2194G>A (p.Asp732Asn)
c.-55+2628G>A (n.-55+2628G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318605G>CCA358119804FAT4c.2194G>C (p.Asp732His)
c.-55+2628G>C (n.-55+2628G>C)
4g.125318605G=CA1491602524FAT4c.2194G= (p.Asp732=)
c.-55+2628G= (n.-55+2628G=)
4g.125318605G>TCA358119805FAT4c.2194G>T (p.Asp732Tyr)
c.-55+2628G>T (n.-55+2628G>T)
4g.125318606A>CCA358119806FAT4c.2195A>C (p.Asp732Ala)
c.-55+2629A>C (n.-55+2629A>C)
4g.125318606A>GCA358119807FAT4c.2195A>G (p.Asp732Gly)
c.-55+2629A>G (n.-55+2629A>G)
4g.125318606A>TCA358119808FAT4c.2195A>T (p.Asp732Val)
c.-55+2629A>T (n.-55+2629A>T)
4g.125318607C>ACA358119809FAT4c.2196C>A (p.Asp732Glu)
c.-55+2630C>A (n.-55+2630C>A)
4g.125318607C>GCA358119810FAT4c.2196C>G (p.Asp732Glu)
c.-55+2630C>G (n.-55+2630C>G)
 gnomAD v4
4g.125318607C>TCA441367074FAT4c.2196C>T (p.Asp732=)
c.-55+2630C>T (n.-55+2630C>T)
4g.125318608A>CCA441367076FAT4c.2197A>C (p.Arg733=)
c.-55+2631A>C (n.-55+2631A>C)
4g.125318608A>GCA358119812FAT4c.2197A>G (p.Arg733Gly)
c.-55+2631A>G (n.-55+2631A>G)
4g.125318608A>TCA358119811FAT4c.2197A>T (p.Arg733Trp)
c.-55+2631A>T (n.-55+2631A>T)
4g.125318609G>ACA358119813FAT4c.2198G>A (p.Arg733Lys)
c.-55+2632G>A (n.-55+2632G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125318609G>CCA358119814FAT4c.2198G>C (p.Arg733Thr)
c.-55+2632G>C (n.-55+2632G>C)
4g.125318609G=CA1491602526FAT4c.2198G= (p.Arg733=)
c.-55+2632G= (n.-55+2632G=)
4g.125318609G>TCA358119815FAT4c.2198G>T (p.Arg733Met)
c.-55+2632G>T (n.-55+2632G>T)
4g.125318610G>ACA441367081FAT4c.2199G>A (p.Arg733=)
c.-55+2633G>A (n.-55+2633G>A)
4g.125318610G>CCA358119816FAT4c.2199G>C (p.Arg733Ser)
c.-55+2633G>C (n.-55+2633G>C)
4g.125318610G>TCA358119817FAT4c.2199G>T (p.Arg733Ser)
c.-55+2633G>T (n.-55+2633G>T)
4g.125318611T>ACA358119818FAT4c.2200T>A (p.Ser734Thr)
c.-55+2634T>A (n.-55+2634T>A)
4g.125318611T>CCA358119819FAT4c.2200T>C (p.Ser734Pro)
c.-55+2634T>C (n.-55+2634T>C)
 ClinVar dbSNP
4g.125318611T>GCA358119820FAT4c.2200T>G (p.Ser734Ala)
c.-55+2634T>G (n.-55+2634T>G)
4g.125318612C>ACA358119821FAT4c.2201C>A (p.Ser734Tyr)
c.-55+2635C>A (n.-55+2635C>A)
 gnomAD v4
4g.125318612C>GCA358119822FAT4c.2201C>G (p.Ser734Cys)
c.-55+2635C>G (n.-55+2635C>G)
4g.125318612C>TCA358119823FAT4c.2201C>T (p.Ser734Phe)
c.-55+2635C>T (n.-55+2635C>T)
4g.125318613T>ACA441367088FAT4c.2202T>A (p.Ser734=)
c.-55+2636T>A (n.-55+2636T>A)
4g.125318613T>CCA441367089FAT4c.2202T>C (p.Ser734=)
c.-55+2636T>C (n.-55+2636T>C)
 gnomAD v4
4g.125318613T>GCA441367092FAT4c.2202T>G (p.Ser734=)
c.-55+2636T>G (n.-55+2636T>G)
4g.125318614C>ACA441367094FAT4c.2203C>A (p.Arg735=)
c.-55+2637C>A (n.-55+2637C>A)
 dbSNP
4g.125318614C=CA1491602527FAT4c.2203C= (p.Arg735=)
c.-55+2637C= (n.-55+2637C=)
4g.125318614C>GCA358119824FAT4c.2203C>G (p.Arg735Gly)
c.-55+2637C>G (n.-55+2637C>G)
 gnomAD v4
4g.125318614C>TCA3072124FAT4c.2203C>T (p.Arg735Trp)
c.-55+2637C>T (n.-55+2637C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125318615G>ACA3072125FAT4c.2204G>A (p.Arg735Gln)
c.-55+2638G>A (n.-55+2638G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125318615G>CCA358119826FAT4c.2204G>C (p.Arg735Pro)
c.-55+2638G>C (n.-55+2638G>C)
 gnomAD v4
4g.125318615G=CA1491602529FAT4c.2204G= (p.Arg735=)
c.-55+2638G= (n.-55+2638G=)
4g.125318615G>TCA358119825FAT4c.2204G>T (p.Arg735Leu)
c.-55+2638G>T (n.-55+2638G>T)
4g.125318616G>ACA441367099FAT4c.2205G>A (p.Arg735=)
c.-55+2639G>A (n.-55+2639G>A)
 gnomAD v4
4g.125318616G>CCA441367100FAT4c.2205G>C (p.Arg735=)
c.-55+2639G>C (n.-55+2639G>C)
4g.125318616G>TCA441367101FAT4c.2205G>T (p.Arg735=)
c.-55+2639G>T (n.-55+2639G>T)
4g.125318617T>ACA358119827FAT4c.2206T>A (p.Phe736Ile)
c.-55+2640T>A (n.-55+2640T>A)
4g.125318617T>CCA358119829FAT4c.2206T>C (p.Phe736Leu)
c.-55+2640T>C (n.-55+2640T>C)
4g.125318617T>GCA358119828FAT4c.2206T>G (p.Phe736Val)
c.-55+2640T>G (n.-55+2640T>G)
4g.125318618T>ACA358119830FAT4c.2207T>A (p.Phe736Tyr)
c.-55+2641T>A (n.-55+2641T>A)
4g.125318618T>CCA358119831FAT4c.2207T>C (p.Phe736Ser)
c.-55+2641T>C (n.-55+2641T>C)
4g.125318618T>GCA358119832FAT4c.2207T>G (p.Phe736Cys)
c.-55+2641T>G (n.-55+2641T>G)
4g.125318619T>ACA358119833FAT4c.2208T>A (p.Phe736Leu)
c.-55+2642T>A (n.-55+2642T>A)
4g.125318619T>CCA441367105FAT4c.2208T>C (p.Phe736=)
c.-55+2642T>C (n.-55+2642T>C)
4g.125318619T>GCA358119834FAT4c.2208T>G (p.Phe736Leu)
c.-55+2642T>G (n.-55+2642T>G)
4g.125318620C>ACA358119835FAT4c.2209C>A (p.Gln737Lys)
c.-55+2643C>A (n.-55+2643C>A)
4g.125318620C=CA1491602534FAT4c.2209C= (p.Gln737=)
c.-55+2643C= (n.-55+2643C=)
4g.125318620C>GCA3072126FAT4c.2209C>G (p.Gln737Glu)
c.-55+2643C>G (n.-55+2643C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318620C>TCA358119836FAT4c.2209C>T (p.Gln737Ter)
c.-55+2643C>T (n.-55+2643C>T)
4g.125318621A>CCA358119837FAT4c.2210A>C (p.Gln737Pro)
c.-55+2644A>C (n.-55+2644A>C)
4g.125318621A>GCA358119838FAT4c.2210A>G (p.Gln737Arg)
c.-55+2644A>G (n.-55+2644A>G)
 gnomAD v4
4g.125318621A>TCA358119839FAT4c.2210A>T (p.Gln737Leu)
c.-55+2644A>T (n.-55+2644A>T)
4g.125318622G>ACA441367107FAT4c.2211G>A (p.Gln737=)
c.-55+2645G>A (n.-55+2645G>A)
 gnomAD v4
4g.125318622G>CCA358119840FAT4c.2211G>C (p.Gln737His)
c.-55+2645G>C (n.-55+2645G>C)
4g.125318622G>TCA358119841FAT4c.2211G>T (p.Gln737His)
c.-55+2645G>T (n.-55+2645G>T)
4g.125318623G>ACA358119842FAT4c.2212G>A (p.Val738Ile)
c.-55+2646G>A (n.-55+2646G>A)
4g.125318623G>CCA358119844FAT4c.2212G>C (p.Val738Leu)
c.-55+2646G>C (n.-55+2646G>C)
4g.125318623G>TCA358119843FAT4c.2212G>T (p.Val738Phe)
c.-55+2646G>T (n.-55+2646G>T)
4g.125318624T>ACA358119845FAT4c.2213T>A (p.Val738Asp)
c.-55+2647T>A (n.-55+2647T>A)
4g.125318624T>CCA358119846FAT4c.2213T>C (p.Val738Ala)
c.-55+2647T>C (n.-55+2647T>C)
4g.125318624T>GCA358119847FAT4c.2213T>G (p.Val738Gly)
c.-55+2647T>G (n.-55+2647T>G)
4g.125318625C>ACA3072127FAT4c.2214C>A (p.Val738=)
c.-55+2648C>A (n.-55+2648C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125318625C=CA1491602540FAT4c.2214C= (p.Val738=)
c.-55+2648C= (n.-55+2648C=)
4g.125318625C>GCA441367114FAT4c.2214C>G (p.Val738=)
c.-55+2648C>G (n.-55+2648C>G)
4g.125318625C>TCA441367115FAT4c.2214C>T (p.Val738=)
c.-55+2648C>T (n.-55+2648C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318626A=CA1491602543FAT4c.2215A= (p.Asn739=)
c.-55+2649A= (n.-55+2649A=)
4g.125318626A>CCA104864970FAT4c.2215A>C (p.Asn739His)
c.-55+2649A>C (n.-55+2649A>C)
 dbSNP
4g.125318626A>GCA358119848FAT4c.2215A>G (p.Asn739Asp)
c.-55+2649A>G (n.-55+2649A>G)
 dbSNP
4g.125318626A>TCA358119849FAT4c.2215A>T (p.Asn739Tyr)
c.-55+2649A>T (n.-55+2649A>T)
4g.125318627A=CA1491602545FAT4c.2216A= (p.Asn739=)
c.-55+2650A= (n.-55+2650A=)
4g.125318627A>CCA358119850FAT4c.2216A>C (p.Asn739Thr)
c.-55+2650A>C (n.-55+2650A>C)
4g.125318627A>GCA3072128FAT4c.2216A>G (p.Asn739Ser)
c.-55+2650A>G (n.-55+2650A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318627A>TCA3072129FAT4c.2216A>T (p.Asn739Ile)
c.-55+2650A>T (n.-55+2650A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318628T>ACA358119852FAT4c.2217T>A (p.Asn739Lys)
c.-55+2651T>A (n.-55+2651T>A)
4g.125318628T>CCA441367123FAT4c.2217T>C (p.Asn739=)
c.-55+2651T>C (n.-55+2651T>C)
4g.125318628T>GCA358119851FAT4c.2217T>G (p.Asn739Lys)
c.-55+2651T>G (n.-55+2651T>G)
4g.125318629G>ACA358119853FAT4c.2218G>A (p.Ala740Thr)
c.-55+2652G>A (n.-55+2652G>A)
 dbSNP gnomAD v4
4g.125318629G>CCA358119854FAT4c.2218G>C (p.Ala740Pro)
c.-55+2652G>C (n.-55+2652G>C)
4g.125318629G=CA1491602548FAT4c.2218G= (p.Ala740=)
c.-55+2652G= (n.-55+2652G=)
4g.125318629G>TCA358119855FAT4c.2218G>T (p.Ala740Ser)
c.-55+2652G>T (n.-55+2652G>T)
4g.125318630C>ACA358119856FAT4c.2219C>A (p.Ala740Asp)
c.-55+2653C>A (n.-55+2653C>A)
4g.125318630C>GCA358119857FAT4c.2219C>G (p.Ala740Gly)
c.-55+2653C>G (n.-55+2653C>G)
4g.125318630C>TCA358119858FAT4c.2219C>T (p.Ala740Val)
c.-55+2653C>T (n.-55+2653C>T)
4g.125318631T>ACA441367129FAT4c.2220T>A (p.Ala740=)
c.-55+2654T>A (n.-55+2654T>A)
4g.125318631T>CCA441367126FAT4c.2220T>C (p.Ala740=)
c.-55+2654T>C (n.-55+2654T>C)
4g.125318631T>GCA441367128FAT4c.2220T>G (p.Ala740=)
c.-55+2654T>G (n.-55+2654T>G)
4g.125318632C>ACA358119861FAT4c.2221C>A (p.Gln741Lys)
c.-55+2655C>A (n.-55+2655C>A)
4g.125318632C>GCA358119859FAT4c.2221C>G (p.Gln741Glu)
c.-55+2655C>G (n.-55+2655C>G)
4g.125318632C>TCA358119860FAT4c.2221C>T (p.Gln741Ter)
c.-55+2655C>T (n.-55+2655C>T)
4g.125318633A=CA1491602552FAT4c.2222A= (p.Gln741=)
c.-55+2656A= (n.-55+2656A=)
4g.125318633A>CCA358119862FAT4c.2222A>C (p.Gln741Pro)
c.-55+2656A>C (n.-55+2656A>C)
4g.125318633A>GCA358119863FAT4c.2222A>G (p.Gln741Arg)
c.-55+2656A>G (n.-55+2656A>G)
 dbSNP
4g.125318633A>TCA358119864FAT4c.2222A>T (p.Gln741Leu)
c.-55+2656A>T (n.-55+2656A>T)
4g.125318634G>ACA441367133FAT4c.2223G>A (p.Gln741=)
c.-55+2657G>A (n.-55+2657G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125318634G>CCA358119865FAT4c.2223G>C (p.Gln741His)
c.-55+2657G>C (n.-55+2657G>C)
 gnomAD v4
4g.125318634G=CA1491602556FAT4c.2223G= (p.Gln741=)
c.-55+2657G= (n.-55+2657G=)
4g.125318634G>TCA358119866FAT4c.2223G>T (p.Gln741His)
c.-55+2657G>T (n.-55+2657G>T)
4g.125318635A>CCA358119867FAT4c.2224A>C (p.Ser742Arg)
c.-55+2658A>C (n.-55+2658A>C)
4g.125318635A>GCA358119869FAT4c.2224A>G (p.Ser742Gly)
c.-55+2658A>G (n.-55+2658A>G)
4g.125318635A>TCA358119868FAT4c.2224A>T (p.Ser742Cys)
c.-55+2658A>T (n.-55+2658A>T)
4g.125318636G>ACA3072130FAT4c.2225G>A (p.Ser742Asn)
c.-55+2659G>A (n.-55+2659G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318636G>CCA358119870FAT4c.2225G>C (p.Ser742Thr)
c.-55+2659G>C (n.-55+2659G>C)
 dbSNP
4g.125318636G=CA1491602557FAT4c.2225G= (p.Ser742=)
c.-55+2659G= (n.-55+2659G=)
4g.125318636G>TCA358119871FAT4c.2225G>T (p.Ser742Ile)
c.-55+2659G>T (n.-55+2659G>T)
4g.125318637T>ACA358119872FAT4c.2226T>A (p.Ser742Arg)
c.-55+2660T>A (n.-55+2660T>A)
4g.125318637T>CCA441367140FAT4c.2226T>C (p.Ser742=)
c.-55+2660T>C (n.-55+2660T>C)
4g.125318637T>GCA358119873FAT4c.2226T>G (p.Ser742Arg)
c.-55+2660T>G (n.-55+2660T>G)
4g.125318638G>ACA358119874FAT4c.2227G>A (p.Gly743Arg)
c.-55+2661G>A (n.-55+2661G>A)
4g.125318638G>CCA358119875FAT4c.2227G>C (p.Gly743Arg)
c.-55+2661G>C (n.-55+2661G>C)
4g.125318638G>TCA358119876FAT4c.2227G>T (p.Gly743Trp)
c.-55+2661G>T (n.-55+2661G>T)
4g.125318639G>ACA358119877FAT4c.2228G>A (p.Gly743Glu)
c.-55+2662G>A (n.-55+2662G>A)
4g.125318639G>CCA358119878FAT4c.2228G>C (p.Gly743Ala)
c.-55+2662G>C (n.-55+2662G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.125318639G=CA1491602559FAT4c.2228G= (p.Gly743=)
c.-55+2662G= (n.-55+2662G=)
4g.125318639G>TCA358119879FAT4c.2228G>T (p.Gly743Val)
c.-55+2662G>T (n.-55+2662G>T)
 gnomAD v4
4g.125318640G>ACA441367145FAT4c.2229G>A (p.Gly743=)
c.-55+2663G>A (n.-55+2663G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125318640G>CCA441367146FAT4c.2229G>C (p.Gly743=)
c.-55+2663G>C (n.-55+2663G>C)
 gnomAD v4
4g.125318640G=CA1491602562FAT4c.2229G= (p.Gly743=)
c.-55+2663G= (n.-55+2663G=)
4g.125318640G>TCA3072131FAT4c.2229G>T (p.Gly743=)
c.-55+2663G>T (n.-55+2663G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318641G>ACA358119881FAT4c.2230G>A (p.Val744Ile)
c.-55+2664G>A (n.-55+2664G>A)
 gnomAD v4
4g.125318641G>CCA358119882FAT4c.2230G>C (p.Val744Leu)
c.-55+2664G>C (n.-55+2664G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.125318641G=CA1491602564FAT4c.2230G= (p.Val744=)
c.-55+2664G= (n.-55+2664G=)
4g.125318641G>TCA358119880FAT4c.2230G>T (p.Val744Phe)
c.-55+2664G>T (n.-55+2664G>T)
 gnomAD v4
4g.125318642T>ACA358119884FAT4c.2231T>A (p.Val744Asp)
c.-55+2665T>A (n.-55+2665T>A)
4g.125318642T>CCA358119883FAT4c.2231T>C (p.Val744Ala)
c.-55+2665T>C (n.-55+2665T>C)
4g.125318642T>GCA358119885FAT4c.2231T>G (p.Val744Gly)
c.-55+2665T>G (n.-55+2665T>G)
4g.125318643T>ACA441367149FAT4c.2232T>A (p.Val744=)
c.-55+2666T>A (n.-55+2666T>A)
4g.125318643T>CCA441367150FAT4c.2232T>C (p.Val744=)
c.-55+2666T>C (n.-55+2666T>C)
4g.125318643T>GCA441367152FAT4c.2232T>G (p.Val744=)
c.-55+2666T>G (n.-55+2666T>G)
4g.125318644A=CA1491602567FAT4c.2233A= (p.Ile745=)
c.-55+2667A= (n.-55+2667A=)
4g.125318644A>CCA358119886FAT4c.2233A>C (p.Ile745Leu)
c.-55+2667A>C (n.-55+2667A>C)
 dbSNP
4g.125318644A>GCA358119887FAT4c.2233A>G (p.Ile745Val)
c.-55+2667A>G (n.-55+2667A>G)
 gnomAD v4
4g.125318644A>TCA358119888FAT4c.2233A>T (p.Ile745Phe)
c.-55+2667A>T (n.-55+2667A>T)
4g.125318645T>ACA358119889FAT4c.2234T>A (p.Ile745Asn)
c.-55+2668T>A (n.-55+2668T>A)
4g.125318645T>CCA358119890FAT4c.2234T>C (p.Ile745Thr)
c.-55+2668T>C (n.-55+2668T>C)
4g.125318645T>GCA358119891FAT4c.2234T>G (p.Ile745Ser)
c.-55+2668T>G (n.-55+2668T>G)
4g.125318646T>ACA441367156FAT4c.2235T>A (p.Ile745=)
c.-55+2669T>A (n.-55+2669T>A)
4g.125318646T>CCA441367157FAT4c.2235T>C (p.Ile745=)
c.-55+2669T>C (n.-55+2669T>C)
 gnomAD v4
4g.125318646T>GCA358119892FAT4c.2235T>G (p.Ile745Met)
c.-55+2669T>G (n.-55+2669T>G)
4g.125318647T>ACA358119893FAT4c.2236T>A (p.Ser746Thr)
c.-55+2670T>A (n.-55+2670T>A)
4g.125318647T>CCA358119894FAT4c.2236T>C (p.Ser746Pro)
c.-55+2670T>C (n.-55+2670T>C)
4g.125318647T>GCA358119895FAT4c.2236T>G (p.Ser746Ala)
c.-55+2670T>G (n.-55+2670T>G)
 gnomAD v4
4g.125318648C>ACA358119896FAT4c.2237C>A (p.Ser746Tyr)
c.-55+2671C>A (n.-55+2671C>A)
4g.125318648C>GCA358119897FAT4c.2237C>G (p.Ser746Cys)
c.-55+2671C>G (n.-55+2671C>G)
 gnomAD v4
4g.125318648C>TCA358119898FAT4c.2237C>T (p.Ser746Phe)
c.-55+2671C>T (n.-55+2671C>T)
4g.125318649T>ACA441367165FAT4c.2238T>A (p.Ser746=)
c.-55+2672T>A (n.-55+2672T>A)
4g.125318649T>CCA104864995FAT4c.2238T>C (p.Ser746=)
c.-55+2672T>C (n.-55+2672T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318649T>GCA441367162FAT4c.2238T>G (p.Ser746=)
c.-55+2672T>G (n.-55+2672T>G)
4g.125318649T=CA1491602570FAT4c.2238T= (p.Ser746=)
c.-55+2672T= (n.-55+2672T=)
4g.125318650A=CA1491602573FAT4c.2239A= (p.Thr747=)
c.-55+2673A= (n.-55+2673A=)
4g.125318650A>CCA358119899FAT4c.2239A>C (p.Thr747Pro)
c.-55+2673A>C (n.-55+2673A>C)
 gnomAD v4
4g.125318650A>GCA3072132FAT4c.2239A>G (p.Thr747Ala)
c.-55+2673A>G (n.-55+2673A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318650A>TCA104865006FAT4c.2239A>T (p.Thr747Ser)
c.-55+2673A>T (n.-55+2673A>T)
 dbSNP
4g.125318651C>ACA358119900FAT4c.2240C>A (p.Thr747Lys)
c.-55+2674C>A (n.-55+2674C>A)
4g.125318651C>GCA358119901FAT4c.2240C>G (p.Thr747Arg)
c.-55+2674C>G (n.-55+2674C>G)
4g.125318651C>TCA358119902FAT4c.2240C>T (p.Thr747Ile)
c.-55+2674C>T (n.-55+2674C>T)
 gnomAD v4
4g.125318652A>CCA441367166FAT4c.2241A>C (p.Thr747=)
c.-55+2675A>C (n.-55+2675A>C)
4g.125318652A>GCA441367167FAT4c.2241A>G (p.Thr747=)
c.-55+2675A>G (n.-55+2675A>G)
4g.125318652A>TCA441367168FAT4c.2241A>T (p.Thr747=)
c.-55+2675A>T (n.-55+2675A>T)
4g.125318653A>CCA441367170FAT4c.2242A>C (p.Arg748=)
c.-55+2676A>C (n.-55+2676A>C)
4g.125318653A>GCA358119903FAT4c.2242A>G (p.Arg748Gly)
c.-55+2676A>G (n.-55+2676A>G)
4g.125318653A>TCA358119904FAT4c.2242A>T (p.Arg748Ter)
c.-55+2676A>T (n.-55+2676A>T)
4g.125318654G>ACA358119905FAT4c.2243G>A (p.Arg748Lys)
c.-55+2677G>A (n.-55+2677G>A)
4g.125318654G>CCA358119906FAT4c.2243G>C (p.Arg748Thr)
c.-55+2677G>C (n.-55+2677G>C)
4g.125318654G>TCA358119907FAT4c.2243G>T (p.Arg748Ile)
c.-55+2677G>T (n.-55+2677G>T)
4g.125318655A>CCA358119908FAT4c.2244A>C (p.Arg748Ser)
c.-55+2678A>C (n.-55+2678A>C)
4g.125318655A>GCA441367173FAT4c.2244A>G (p.Arg748=)
c.-55+2678A>G (n.-55+2678A>G)
4g.125318655A>TCA358119909FAT4c.2244A>T (p.Arg748Ser)
c.-55+2678A>T (n.-55+2678A>T)
 gnomAD v4
4g.125318656A=CA1491602575FAT4c.2245A= (p.Met749=)
c.-55+2679A= (n.-55+2679A=)
4g.125318656A>CCA358119911FAT4c.2245A>C (p.Met749Leu)
c.-55+2679A>C (n.-55+2679A>C)
4g.125318656A>GCA358119912FAT4c.2245A>G (p.Met749Val)
c.-55+2679A>G (n.-55+2679A>G)
 gnomAD v4
4g.125318656A>TCA358119910FAT4c.2245A>T (p.Met749Leu)
c.-55+2679A>T (n.-55+2679A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125318657T>ACA358119913FAT4c.2246T>A (p.Met749Lys)
c.-55+2680T>A (n.-55+2680T>A)
4g.125318657T>CCA358119914FAT4c.2246T>C (p.Met749Thr)
c.-55+2680T>C (n.-55+2680T>C)
4g.125318657T>GCA358119915FAT4c.2246T>G (p.Met749Arg)
c.-55+2680T>G (n.-55+2680T>G)
4g.125318658G>ACA3072133FAT4c.2247G>A (p.Met749Ile)
c.-55+2681G>A (n.-55+2681G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318658G>CCA358119916FAT4c.2247G>C (p.Met749Ile)
c.-55+2681G>C (n.-55+2681G>C)
4g.125318658G=CA1491602578FAT4c.2247G= (p.Met749=)
c.-55+2681G= (n.-55+2681G=)
4g.125318658G>TCA358119917FAT4c.2247G>T (p.Met749Ile)
c.-55+2681G>T (n.-55+2681G>T)
4g.125318659G>ACA358119919FAT4c.2248G>A (p.Ala750Thr)
c.-55+2682G>A (n.-55+2682G>A)
 dbSNP gnomAD v4
4g.125318659G>CCA3072134FAT4c.2248G>C (p.Ala750Pro)
c.-55+2682G>C (n.-55+2682G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318659G=CA1491602580FAT4c.2248G= (p.Ala750=)
c.-55+2682G= (n.-55+2682G=)
4g.125318659G>TCA358119918FAT4c.2248G>T (p.Ala750Ser)
c.-55+2682G>T (n.-55+2682G>T)
4g.125318659_125318660delinsGCCA1491602582FAT4c.2248_2249delinsGC (p.Ala750=)
c.-55+2682_-55+2683delinsGC (n.-55+2682_-55+2683delinsGC)
4g.125318660C>ACA358119920FAT4c.2249C>A (p.Ala750Asp)
c.-55+2683C>A (n.-55+2683C>A)
4g.125318660C>GCA358119921FAT4c.2249C>G (p.Ala750Gly)
c.-55+2683C>G (n.-55+2683C>G)
4g.125318660C>TCA358119922FAT4c.2249C>T (p.Ala750Val)
c.-55+2683C>T (n.-55+2683C>T)
4g.125318662delCA555019272FAT4c.2251del (p.Leu751Ter)
c.-55+2685del (n.-55+2685del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318661C>ACA441367180FAT4c.2250C>A (p.Ala750=)
c.-55+2684C>A (n.-55+2684C>A)
4g.125318661C=CA1491602586FAT4c.2250C= (p.Ala750=)
c.-55+2684C= (n.-55+2684C=)
4g.125318661C>GCA441367178FAT4c.2250C>G (p.Ala750=)
c.-55+2684C>G (n.-55+2684C>G)
4g.125318661C>TCA441367179FAT4c.2250C>T (p.Ala750=)
c.-55+2684C>T (n.-55+2684C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318662C>ACA358119923FAT4c.2251C>A (p.Leu751Ile)
c.-55+2685C>A (n.-55+2685C>A)
4g.125318662C>GCA358119924FAT4c.2251C>G (p.Leu751Val)
c.-55+2685C>G (n.-55+2685C>G)
4g.125318662C>TCA441367184FAT4c.2251C>T (p.Leu751=)
c.-55+2685C>T (n.-55+2685C>T)
 gnomAD v4
4g.125318663T>ACA358119925FAT4c.2252T>A (p.Leu751Gln)
c.-55+2686T>A (n.-55+2686T>A)
4g.125318663T>CCA358119927FAT4c.2252T>C (p.Leu751Pro)
c.-55+2686T>C (n.-55+2686T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125318663T>GCA358119926FAT4c.2252T>G (p.Leu751Arg)
c.-55+2686T>G (n.-55+2686T>G)
4g.125318663T=CA1491602587FAT4c.2252T= (p.Leu751=)
c.-55+2686T= (n.-55+2686T=)
4g.125318664A>CCA441367187FAT4c.2253A>C (p.Leu751=)
c.-55+2687A>C (n.-55+2687A>C)
4g.125318664A>GCA441367188FAT4c.2253A>G (p.Leu751=)
c.-55+2687A>G (n.-55+2687A>G)
4g.125318664A>TCA441367189FAT4c.2253A>T (p.Leu751=)
c.-55+2687A>T (n.-55+2687A>T)
4g.125318665G>ACA358119928FAT4c.2254G>A (p.Asp752Asn)
c.-55+2688G>A (n.-55+2688G>A)
4g.125318665G>CCA358119929FAT4c.2254G>C (p.Asp752His)
c.-55+2688G>C (n.-55+2688G>C)
4g.125318665G>TCA358119930FAT4c.2254G>T (p.Asp752Tyr)
c.-55+2688G>T (n.-55+2688G>T)
4g.125318666A>CCA358119931FAT4c.2255A>C (p.Asp752Ala)
c.-55+2689A>C (n.-55+2689A>C)
4g.125318666A>GCA358119932FAT4c.2255A>G (p.Asp752Gly)
c.-55+2689A>G (n.-55+2689A>G)
4g.125318666A>TCA358119933FAT4c.2255A>T (p.Asp752Val)
c.-55+2689A>T (n.-55+2689A>T)
4g.125318667C>ACA358119934FAT4c.2256C>A (p.Asp752Glu)
c.-55+2690C>A (n.-55+2690C>A)
4g.125318667C=CA1491602589FAT4c.2256C= (p.Asp752=)
c.-55+2690C= (n.-55+2690C=)
4g.125318667C>GCA358119935FAT4c.2256C>G (p.Asp752Glu)
c.-55+2690C>G (n.-55+2690C>G)
4g.125318667C>TCA441367193FAT4c.2256C>T (p.Asp752=)
c.-55+2690C>T (n.-55+2690C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.125318668A>CCA441367197FAT4c.2257A>C (p.Arg753=)
c.-55+2691A>C (n.-55+2691A>C)
4g.125318668A>GCA358119936FAT4c.2257A>G (p.Arg753Gly)
c.-55+2691A>G (n.-55+2691A>G)
4g.125318668A>TCA358119937FAT4c.2257A>T (p.Arg753Ter)
c.-55+2691A>T (n.-55+2691A>T)
4g.125318669G>ACA358119938FAT4c.2258G>A (p.Arg753Lys)
c.-55+2692G>A (n.-55+2692G>A)
4g.125318669G>CCA358119939FAT4c.2258G>C (p.Arg753Thr)
c.-55+2692G>C (n.-55+2692G>C)
4g.125318669G>TCA358119940FAT4c.2258G>T (p.Arg753Ile)
c.-55+2692G>T (n.-55+2692G>T)
4g.125318669_125318671delCA2672009318FAT4c.2258_2260del (p.Arg753_Glu754delinsLys)
c.-55+2692_-55+2694del (n.-55+2692_-55+2694del)
 gnomAD v4
4g.125318670A=CA1491602591FAT4c.2259A= (p.Arg753=)
c.-55+2693A= (n.-55+2693A=)
4g.125318670A>CCA358119942FAT4c.2259A>C (p.Arg753Ser)
c.-55+2693A>C (n.-55+2693A>C)
4g.125318670A>GCA441367200FAT4c.2259A>G (p.Arg753=)
c.-55+2693A>G (n.-55+2693A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125318670A>TCA358119941FAT4c.2259A>T (p.Arg753Ser)
c.-55+2693A>T (n.-55+2693A>T)
4g.125318671G>ACA3072135FAT4c.2260G>A (p.Glu754Lys)
c.-55+2694G>A (n.-55+2694G>A)
 dbSNP ExAC gnomAD v2
4g.125318671G>CCA358119943FAT4c.2260G>C (p.Glu754Gln)
c.-55+2694G>C (n.-55+2694G>C)
4g.125318671G=CA1491602593FAT4c.2260G= (p.Glu754=)
c.-55+2694G= (n.-55+2694G=)
4g.125318671G>TCA358119944FAT4c.2260G>T (p.Glu754Ter)
c.-55+2694G>T (n.-55+2694G>T)
 COSMIC COSMIC
4g.125318672A>CCA358119945FAT4c.2261A>C (p.Glu754Ala)
c.-55+2695A>C (n.-55+2695A>C)
4g.125318672A>GCA358119946FAT4c.2261A>G (p.Glu754Gly)
c.-55+2695A>G (n.-55+2695A>G)
4g.125318672A>TCA358119947FAT4c.2261A>T (p.Glu754Val)
c.-55+2695A>T (n.-55+2695A>T)
4g.125318673A=CA1491602597FAT4c.2262A= (p.Glu754=)
c.-55+2696A= (n.-55+2696A=)
4g.125318673A>CCA358119948FAT4c.2262A>C (p.Glu754Asp)
c.-55+2696A>C (n.-55+2696A>C)
 COSMIC COSMIC
4g.125318673A>GCA441367206FAT4c.2262A>G (p.Glu754=)
c.-55+2696A>G (n.-55+2696A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125318673A>TCA358119949FAT4c.2262A>T (p.Glu754Asp)
c.-55+2696A>T (n.-55+2696A>T)
4g.125318674G>ACA358119950FAT4c.2263G>A (p.Glu755Lys)
c.-55+2697G>A (n.-55+2697G>A)
 dbSNP gnomAD v2
4g.125318674G>CCA358119951FAT4c.2263G>C (p.Glu755Gln)
c.-55+2697G>C (n.-55+2697G>C)
4g.125318674G=CA1491602599FAT4c.2263G= (p.Glu755=)
c.-55+2697G= (n.-55+2697G=)
4g.125318674G>TCA358119952FAT4c.2263G>T (p.Glu755Ter)
c.-55+2697G>T (n.-55+2697G>T)
 gnomAD v4
4g.125318675A>CCA358119953FAT4c.2264A>C (p.Glu755Ala)
c.-55+2698A>C (n.-55+2698A>C)
4g.125318675A>GCA358119954FAT4c.2264A>G (p.Glu755Gly)
c.-55+2698A>G (n.-55+2698A>G)
 gnomAD v4
4g.125318675A>TCA358119955FAT4c.2264A>T (p.Glu755Val)
c.-55+2698A>T (n.-55+2698A>T)
 gnomAD v4
4g.125318680dupCA645539178FAT4c.2269dup (p.Thr757AsnfsTer11)
c.-55+2703dup (n.-55+2703dup)
 COSMIC COSMIC
4g.125318676A=CA1491602602FAT4c.2265A= (p.Glu755=)
c.-55+2699A= (n.-55+2699A=)
4g.125318676A>CCA3072136FAT4c.2265A>C (p.Glu755Asp)
c.-55+2699A>C (n.-55+2699A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318676A>GCA441367207FAT4c.2265A>G (p.Glu755=)
c.-55+2699A>G (n.-55+2699A>G)
4g.125318676A>TCA358119956FAT4c.2265A>T (p.Glu755Asp)
c.-55+2699A>T (n.-55+2699A>T)
4g.125318677A=CA1491602607FAT4c.2266A= (p.Lys756=)
c.-55+2700A= (n.-55+2700A=)
4g.125318677A>CCA358119957FAT4c.2266A>C (p.Lys756Gln)
c.-55+2700A>C (n.-55+2700A>C)
4g.125318677A>GCA104865019FAT4c.2266A>G (p.Lys756Glu)
c.-55+2700A>G (n.-55+2700A>G)
 dbSNP
4g.125318677A>TCA358119958FAT4c.2266A>T (p.Lys756Ter)
c.-55+2700A>T (n.-55+2700A>T)
4g.125318678A>CCA358119959FAT4c.2267A>C (p.Lys756Thr)
c.-55+2701A>C (n.-55+2701A>C)
4g.125318678A>GCA358119960FAT4c.2267A>G (p.Lys756Arg)
c.-55+2701A>G (n.-55+2701A>G)
4g.125318678A>TCA358119961FAT4c.2267A>T (p.Lys756Ile)
c.-55+2701A>T (n.-55+2701A>T)
4g.125318679A>CCA358119963FAT4c.2268A>C (p.Lys756Asn)
c.-55+2702A>C (n.-55+2702A>C)
4g.125318679A>GCA441367209FAT4c.2268A>G (p.Lys756=)
c.-55+2702A>G (n.-55+2702A>G)
 gnomAD v4
4g.125318679A>TCA358119962FAT4c.2268A>T (p.Lys756Asn)
c.-55+2702A>T (n.-55+2702A>T)
4g.125318680A=CA1491602611FAT4c.2269A= (p.Thr757=)
c.-55+2703A= (n.-55+2703A=)
4g.125318680A>CCA358119964FAT4c.2269A>C (p.Thr757Pro)
c.-55+2703A>C (n.-55+2703A>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125318680A>GCA358119965FAT4c.2269A>G (p.Thr757Ala)
c.-55+2703A>G (n.-55+2703A>G)
4g.125318680A>TCA358119966FAT4c.2269A>T (p.Thr757Ser)
c.-55+2703A>T (n.-55+2703A>T)
4g.125318681C>ACA358119967FAT4c.2270C>A (p.Thr757Lys)
c.-55+2704C>A (n.-55+2704C>A)
4g.125318681C>GCA358119968FAT4c.2270C>G (p.Thr757Arg)
c.-55+2704C>G (n.-55+2704C>G)
4g.125318681C>TCA358119969FAT4c.2270C>T (p.Thr757Ile)
c.-55+2704C>T (n.-55+2704C>T)
4g.125318682A>CCA441367211FAT4c.2271A>C (p.Thr757=)
c.-55+2705A>C (n.-55+2705A>C)
4g.125318682A>GCA441367214FAT4c.2271A>G (p.Thr757=)
c.-55+2705A>G (n.-55+2705A>G)
 gnomAD v4
4g.125318682A>TCA441367212FAT4c.2271A>T (p.Thr757=)
c.-55+2705A>T (n.-55+2705A>T)
4g.125318683G>ACA358119972FAT4c.2272G>A (p.Ala758Thr)
c.-55+2706G>A (n.-55+2706G>A)
4g.125318683G>CCA358119970FAT4c.2272G>C (p.Ala758Pro)
c.-55+2706G>C (n.-55+2706G>C)
4g.125318683G>TCA358119971FAT4c.2272G>T (p.Ala758Ser)
c.-55+2706G>T (n.-55+2706G>T)
4g.125318684C>ACA3072138FAT4c.2273C>A (p.Ala758Asp)
c.-55+2707C>A (n.-55+2707C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318684C=CA1491602615FAT4c.2273C= (p.Ala758=)
c.-55+2707C= (n.-55+2707C=)
4g.125318684C>GCA104865025FAT4c.2273C>G (p.Ala758Gly)
c.-55+2707C>G (n.-55+2707C>G)
 ClinVar dbSNP gnomAD v4
4g.125318684C>TCA3072137FAT4c.2273C>T (p.Ala758Val)
c.-55+2707C>T (n.-55+2707C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched