Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
4g.125318685T>ACA441367216FAT4c.2274T>A (p.Ala758=)
c.-55+2708T>A (n.-55+2708T>A)
4g.125318685T>CCA441367217FAT4c.2274T>C (p.Ala758=)
c.-55+2708T>C (n.-55+2708T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125318685T>GCA441367218FAT4c.2274T>G (p.Ala758=)
c.-55+2708T>G (n.-55+2708T>G)
4g.125318685T=CA1491602621FAT4c.2274T= (p.Ala758=)
c.-55+2708T= (n.-55+2708T=)
4g.125318686T>ACA358119973FAT4c.2275T>A (p.Tyr759Asn)
c.-55+2709T>A (n.-55+2709T>A)
4g.125318686T>CCA358119974FAT4c.2275T>C (p.Tyr759His)
c.-55+2709T>C (n.-55+2709T>C)
4g.125318686T>GCA358119975FAT4c.2275T>G (p.Tyr759Asp)
c.-55+2709T>G (n.-55+2709T>G)
4g.125318687A=CA1491602623FAT4c.2276A= (p.Tyr759=)
c.-55+2710A= (n.-55+2710A=)
4g.125318687A>CCA358119978FAT4c.2276A>C (p.Tyr759Ser)
c.-55+2710A>C (n.-55+2710A>C)
4g.125318687A>GCA358119976FAT4c.2276A>G (p.Tyr759Cys)
c.-55+2710A>G (n.-55+2710A>G)
 dbSNP gnomAD v2
4g.125318687A>TCA358119977FAT4c.2276A>T (p.Tyr759Phe)
c.-55+2710A>T (n.-55+2710A>T)
 dbSNP
4g.125318688T>ACA358119979FAT4c.2277T>A (p.Tyr759Ter)
c.-55+2711T>A (n.-55+2711T>A)
4g.125318688T>CCA441367220FAT4c.2277T>C (p.Tyr759=)
c.-55+2711T>C (n.-55+2711T>C)
 ClinVar gnomAD v4
4g.125318688T>GCA358119980FAT4c.2277T>G (p.Tyr759Ter)
c.-55+2711T>G (n.-55+2711T>G)
4g.125318689C>ACA358119981FAT4c.2278C>A (p.Gln760Lys)
c.-55+2712C>A (n.-55+2712C>A)
4g.125318689C>GCA358119982FAT4c.2278C>G (p.Gln760Glu)
c.-55+2712C>G (n.-55+2712C>G)
4g.125318689C>TCA358119983FAT4c.2278C>T (p.Gln760Ter)
c.-55+2712C>T (n.-55+2712C>T)
 COSMIC COSMIC
4g.125318690A=CA1491602627FAT4c.2279A= (p.Gln760=)
c.-55+2713A= (n.-55+2713A=)
4g.125318690A>CCA358119985FAT4c.2279A>C (p.Gln760Pro)
c.-55+2713A>C (n.-55+2713A>C)
4g.125318690A>GCA104865026FAT4c.2279A>G (p.Gln760Arg)
c.-55+2713A>G (n.-55+2713A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125318690A>TCA358119984FAT4c.2279A>T (p.Gln760Leu)
c.-55+2713A>T (n.-55+2713A>T)
 gnomAD v4
4g.125318691G>ACA441367221FAT4c.2280G>A (p.Gln760=)
c.-55+2714G>A (n.-55+2714G>A)
4g.125318691G>CCA358119986FAT4c.2280G>C (p.Gln760His)
c.-55+2714G>C (n.-55+2714G>C)
 dbSNP
4g.125318691G=CA1491602629FAT4c.2280G= (p.Gln760=)
c.-55+2714G= (n.-55+2714G=)
4g.125318691G>TCA358119987FAT4c.2280G>T (p.Gln760His)
c.-55+2714G>T (n.-55+2714G>T)
4g.125318692T>ACA358119988FAT4c.2281T>A (p.Leu761Met)
c.-55+2715T>A (n.-55+2715T>A)
4g.125318692T>CCA441367224FAT4c.2281T>C (p.Leu761=)
c.-55+2715T>C (n.-55+2715T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125318692T>GCA358119989FAT4c.2281T>G (p.Leu761Val)
c.-55+2715T>G (n.-55+2715T>G)
4g.125318692T=CA1491602631FAT4c.2281T= (p.Leu761=)
c.-55+2715T= (n.-55+2715T=)
4g.125318693T>ACA358119990FAT4c.2282T>A (p.Leu761Ter)
c.-55+2716T>A (n.-55+2716T>A)
4g.125318693T>CCA358119991FAT4c.2282T>C (p.Leu761Ser)
c.-55+2716T>C (n.-55+2716T>C)
4g.125318693T>GCA358119992FAT4c.2282T>G (p.Leu761Trp)
c.-55+2716T>G (n.-55+2716T>G)
4g.125318694G>ACA441367226FAT4c.2283G>A (p.Leu761=)
c.-55+2717G>A (n.-55+2717G>A)
4g.125318694G>CCA358119993FAT4c.2283G>C (p.Leu761Phe)
c.-55+2717G>C (n.-55+2717G>C)
4g.125318694G=CA1491602632FAT4c.2283G= (p.Leu761=)
c.-55+2717G= (n.-55+2717G=)
4g.125318694G>TCA3072139FAT4c.2283G>T (p.Leu761Phe)
c.-55+2717G>T (n.-55+2717G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318695C>ACA358119994FAT4c.2284C>A (p.Gln762Lys)
c.-55+2718C>A (n.-55+2718C>A)
4g.125318695C=CA1491602634FAT4c.2284C= (p.Gln762=)
c.-55+2718C= (n.-55+2718C=)
4g.125318695C>GCA358119995FAT4c.2284C>G (p.Gln762Glu)
c.-55+2718C>G (n.-55+2718C>G)
4g.125318695C>TCA358119996FAT4c.2284C>T (p.Gln762Ter)
c.-55+2718C>T (n.-55+2718C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125318696A>CCA358119997FAT4c.2285A>C (p.Gln762Pro)
c.-55+2719A>C (n.-55+2719A>C)
4g.125318696A>GCA358119999FAT4c.2285A>G (p.Gln762Arg)
c.-55+2719A>G (n.-55+2719A>G)
4g.125318696A>TCA358119998FAT4c.2285A>T (p.Gln762Leu)
c.-55+2719A>T (n.-55+2719A>T)
4g.125318697A=CA1491602636FAT4c.2286A= (p.Gln762=)
c.-55+2720A= (n.-55+2720A=)
4g.125318697A>CCA358120000FAT4c.2286A>C (p.Gln762His)
c.-55+2720A>C (n.-55+2720A>C)
 gnomAD v4
4g.125318697A>GCA3072140FAT4c.2286A>G (p.Gln762=)
c.-55+2720A>G (n.-55+2720A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318697A>TCA358120001FAT4c.2286A>T (p.Gln762His)
c.-55+2720A>T (n.-55+2720A>T)
4g.125318698A=CA1491602640FAT4c.2287A= (p.Ile763=)
c.-55+2721A= (n.-55+2721A=)
4g.125318698A>CCA358120002FAT4c.2287A>C (p.Ile763Leu)
c.-55+2721A>C (n.-55+2721A>C)
4g.125318698A>GCA3072141FAT4c.2287A>G (p.Ile763Val)
c.-55+2721A>G (n.-55+2721A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125318698A>TCA358120003FAT4c.2287A>T (p.Ile763Leu)
c.-55+2721A>T (n.-55+2721A>T)
4g.125318699T>ACA358120004FAT4c.2288T>A (p.Ile763Lys)
c.-55+2722T>A (n.-55+2722T>A)
4g.125318699T>CCA104865036FAT4c.2288T>C (p.Ile763Thr)
c.-55+2722T>C (n.-55+2722T>C)
 dbSNP gnomAD v4
4g.125318699T>GCA358120005FAT4c.2288T>G (p.Ile763Arg)
c.-55+2722T>G (n.-55+2722T>G)
4g.125318699T=CA1491602642FAT4c.2288T= (p.Ile763=)
c.-55+2722T= (n.-55+2722T=)
4g.125318700A>CCA441367230FAT4c.2289A>C (p.Ile763=)
c.-55+2723A>C (n.-55+2723A>C)
4g.125318700A>GCA358120006FAT4c.2289A>G (p.Ile763Met)
c.-55+2723A>G (n.-55+2723A>G)
 gnomAD v4
4g.125318700A>TCA441367231FAT4c.2289A>T (p.Ile763=)
c.-55+2723A>T (n.-55+2723A>T)
4g.125318701G>ACA358120007FAT4c.2290G>A (p.Val764Ile)
c.-55+2724G>A (n.-55+2724G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125318701G>CCA358120008FAT4c.2290G>C (p.Val764Leu)
c.-55+2724G>C (n.-55+2724G>C)
 gnomAD v4
4g.125318701G=CA1491602645FAT4c.2290G= (p.Val764=)
c.-55+2724G= (n.-55+2724G=)
4g.125318701G>TCA3072142FAT4c.2290G>T (p.Val764Leu)
c.-55+2724G>T (n.-55+2724G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318702T>ACA358120009FAT4c.2291T>A (p.Val764Glu)
c.-55+2725T>A (n.-55+2725T>A)
4g.125318702T>CCA358120010FAT4c.2291T>C (p.Val764Ala)
c.-55+2725T>C (n.-55+2725T>C)
4g.125318702T>GCA358120011FAT4c.2291T>G (p.Val764Gly)
c.-55+2725T>G (n.-55+2725T>G)
4g.125318703A>CCA441367235FAT4c.2292A>C (p.Val764=)
c.-55+2726A>C (n.-55+2726A>C)
4g.125318703A>GCA441367234FAT4c.2292A>G (p.Val764=)
c.-55+2726A>G (n.-55+2726A>G)
4g.125318703A>TCA441367233FAT4c.2292A>T (p.Val764=)
c.-55+2726A>T (n.-55+2726A>T)
4g.125318704G>ACA358120012FAT4c.2293G>A (p.Ala765Thr)
c.-55+2727G>A (n.-55+2727G>A)
4g.125318704G>CCA358120013FAT4c.2293G>C (p.Ala765Pro)
c.-55+2727G>C (n.-55+2727G>C)
4g.125318704G>TCA358120014FAT4c.2293G>T (p.Ala765Ser)
c.-55+2727G>T (n.-55+2727G>T)
4g.125318705C>ACA358120015FAT4c.2294C>A (p.Ala765Asp)
c.-55+2728C>A (n.-55+2728C>A)
4g.125318705C=CA1491602646FAT4c.2294C= (p.Ala765=)
c.-55+2728C= (n.-55+2728C=)
4g.125318705C>GCA358120017FAT4c.2294C>G (p.Ala765Gly)
c.-55+2728C>G (n.-55+2728C>G)
4g.125318705C>TCA358120016FAT4c.2294C>T (p.Ala765Val)
c.-55+2728C>T (n.-55+2728C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.125318706T>ACA441367237FAT4c.2295T>A (p.Ala765=)
c.-55+2729T>A (n.-55+2729T>A)
 gnomAD v4
4g.125318706T>CCA441367239FAT4c.2295T>C (p.Ala765=)
c.-55+2729T>C (n.-55+2729T>C)
4g.125318706T>GCA441367240FAT4c.2295T>G (p.Ala765=)
c.-55+2729T>G (n.-55+2729T>G)
4g.125318707A=CA1491602648FAT4c.2296A= (p.Thr766=)
c.-55+2730A= (n.-55+2730A=)
4g.125318707A>CCA358120018FAT4c.2296A>C (p.Thr766Pro)
c.-55+2730A>C (n.-55+2730A>C)
4g.125318707A>GCA358120019FAT4c.2296A>G (p.Thr766Ala)
c.-55+2730A>G (n.-55+2730A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125318707A>TCA358120020FAT4c.2296A>T (p.Thr766Ser)
c.-55+2730A>T (n.-55+2730A>T)
4g.125318708C>ACA358120021FAT4c.2297C>A (p.Thr766Asn)
c.-55+2731C>A (n.-55+2731C>A)
4g.125318708C>GCA358120022FAT4c.2297C>G (p.Thr766Ser)
c.-55+2731C>G (n.-55+2731C>G)
4g.125318708C>TCA358120023FAT4c.2297C>T (p.Thr766Ile)
c.-55+2731C>T (n.-55+2731C>T)
4g.125318709T>ACA441367241FAT4c.2298T>A (p.Thr766=)
c.-55+2732T>A (n.-55+2732T>A)
4g.125318709T>CCA441367242FAT4c.2298T>C (p.Thr766=)
c.-55+2732T>C (n.-55+2732T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125318709T>GCA441367243FAT4c.2298T>G (p.Thr766=)
c.-55+2732T>G (n.-55+2732T>G)
4g.125318709T=CA1491602650FAT4c.2298T= (p.Thr766=)
c.-55+2732T= (n.-55+2732T=)
4g.125318710G>ACA358120024FAT4c.2299G>A (p.Asp767Asn)
c.-55+2733G>A (n.-55+2733G>A)
4g.125318710G>CCA358120025FAT4c.2299G>C (p.Asp767His)
c.-55+2733G>C (n.-55+2733G>C)
4g.125318710G>TCA358120026FAT4c.2299G>T (p.Asp767Tyr)
c.-55+2733G>T (n.-55+2733G>T)
4g.125318711A=CA1491602652FAT4c.2300A= (p.Asp767=)
c.-55+2734A= (n.-55+2734A=)
4g.125318711A>CCA358120029FAT4c.2300A>C (p.Asp767Ala)
c.-55+2734A>C (n.-55+2734A>C)
4g.125318711A>GCA358120028FAT4c.2300A>G (p.Asp767Gly)
c.-55+2734A>G (n.-55+2734A>G)
 dbSNP
4g.125318711A>TCA358120027FAT4c.2300A>T (p.Asp767Val)
c.-55+2734A>T (n.-55+2734A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318712T>ACA358120030FAT4c.2301T>A (p.Asp767Glu)
c.-55+2735T>A (n.-55+2735T>A)
4g.125318712T>CCA441367245FAT4c.2301T>C (p.Asp767=)
c.-55+2735T>C (n.-55+2735T>C)
4g.125318712T>GCA358120031FAT4c.2301T>G (p.Asp767Glu)
c.-55+2735T>G (n.-55+2735T>G)
4g.125318713G>ACA358120032FAT4c.2302G>A (p.Gly768Ser)
c.-55+2736G>A (n.-55+2736G>A)
 gnomAD v4
4g.125318713G>CCA358120033FAT4c.2302G>C (p.Gly768Arg)
c.-55+2736G>C (n.-55+2736G>C)
4g.125318713G>TCA358120034FAT4c.2302G>T (p.Gly768Cys)
c.-55+2736G>T (n.-55+2736G>T)
4g.125318714G>ACA358120035FAT4c.2303G>A (p.Gly768Asp)
c.-55+2737G>A (n.-55+2737G>A)
 COSMIC COSMIC
4g.125318714G>CCA358120036FAT4c.2303G>C (p.Gly768Ala)
c.-55+2737G>C (n.-55+2737G>C)
4g.125318714G>TCA358120037FAT4c.2303G>T (p.Gly768Val)
c.-55+2737G>T (n.-55+2737G>T)
 COSMIC COSMIC
4g.125318715T>ACA441367246FAT4c.2304T>A (p.Gly768=)
c.-55+2738T>A (n.-55+2738T>A)
4g.125318715T>CCA441367247FAT4c.2304T>C (p.Gly768=)
c.-55+2738T>C (n.-55+2738T>C)
4g.125318715T>GCA441367248FAT4c.2304T>G (p.Gly768=)
c.-55+2738T>G (n.-55+2738T>G)
4g.125318716G>ACA358120038FAT4c.2305G>A (p.Gly769Ser)
c.-55+2739G>A (n.-55+2739G>A)
 dbSNP gnomAD v4
4g.125318716G>CCA358120039FAT4c.2305G>C (p.Gly769Arg)
c.-55+2739G>C (n.-55+2739G>C)
4g.125318716G=CA1491602653FAT4c.2305G= (p.Gly769=)
c.-55+2739G= (n.-55+2739G=)
4g.125318716G>TCA358120040FAT4c.2305G>T (p.Gly769Cys)
c.-55+2739G>T (n.-55+2739G>T)
4g.125318717G>ACA358120043FAT4c.2306G>A (p.Gly769Asp)
c.-55+2740G>A (n.-55+2740G>A)
 gnomAD v4
4g.125318717G>CCA358120042FAT4c.2306G>C (p.Gly769Ala)
c.-55+2740G>C (n.-55+2740G>C)
4g.125318717G>TCA358120041FAT4c.2306G>T (p.Gly769Val)
c.-55+2740G>T (n.-55+2740G>T)
4g.125318718C>ACA441367250FAT4c.2307C>A (p.Gly769=)
c.-55+2741C>A (n.-55+2741C>A)
4g.125318718C>GCA441367251FAT4c.2307C>G (p.Gly769=)
c.-55+2741C>G (n.-55+2741C>G)
4g.125318718C>TCA441367252FAT4c.2307C>T (p.Gly769=)
c.-55+2741C>T (n.-55+2741C>T)
 gnomAD v4
4g.125318719A>CCA358120044FAT4c.2308A>C (p.Asn770His)
c.-55+2742A>C (n.-55+2742A>C)
4g.125318719A>GCA358120045FAT4c.2308A>G (p.Asn770Asp)
c.-55+2742A>G (n.-55+2742A>G)
 gnomAD v4
4g.125318719A>TCA358120046FAT4c.2308A>T (p.Asn770Tyr)
c.-55+2742A>T (n.-55+2742A>T)
4g.125318720A=CA1491602655FAT4c.2309A= (p.Asn770=)
c.-55+2743A= (n.-55+2743A=)
4g.125318720A>CCA358120047FAT4c.2309A>C (p.Asn770Thr)
c.-55+2743A>C (n.-55+2743A>C)
4g.125318720A>GCA104865060FAT4c.2309A>G (p.Asn770Ser)
c.-55+2743A>G (n.-55+2743A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125318720A>TCA3072143FAT4c.2309A>T (p.Asn770Ile)
c.-55+2743A>T (n.-55+2743A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318721T>ACA358120048FAT4c.2310T>A (p.Asn770Lys)
c.-55+2744T>A (n.-55+2744T>A)
4g.125318721T>CCA441367254FAT4c.2310T>C (p.Asn770=)
c.-55+2744T>C (n.-55+2744T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318721T>GCA358120049FAT4c.2310T>G (p.Asn770Lys)
c.-55+2744T>G (n.-55+2744T>G)
4g.125318721T=CA1491602657FAT4c.2310T= (p.Asn770=)
c.-55+2744T= (n.-55+2744T=)
4g.125318722T>ACA358120050FAT4c.2311T>A (p.Leu771Ile)
c.-55+2745T>A (n.-55+2745T>A)
4g.125318722T>CCA441367255FAT4c.2311T>C (p.Leu771=)
c.-55+2745T>C (n.-55+2745T>C)
4g.125318722T>GCA358120051FAT4c.2311T>G (p.Leu771Val)
c.-55+2745T>G (n.-55+2745T>G)
 dbSNP
4g.125318722T=CA1491602659FAT4c.2311T= (p.Leu771=)
c.-55+2745T= (n.-55+2745T=)

Number of alleles fetched