Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135800646A=CA1290827603LCTc.4827T= (p.Ser1609=)
c.2960-2508T= (n.2960-2508T=)
2g.135800646A>CCA429086335LCTc.4827T>G (p.Ser1609=)
c.2960-2508T>G (n.2960-2508T>G)
2g.135800646A>GCA429086336LCTc.4827T>C (p.Ser1609=)
c.2960-2508T>C (n.2960-2508T>C)
dbSNP gnomAD v2 gnomAD v4
2g.135800646A>TCA429086337LCTc.4827T>A (p.Ser1609=)
c.2960-2508T>A (n.2960-2508T>A)
2g.135800647G>ACA348592538LCTc.4826C>T (p.Ser1609Phe)
c.2960-2509C>T (n.2960-2509C>T)
2g.135800647G>CCA348592546LCTc.4826C>G (p.Ser1609Cys)
c.2960-2509C>G (n.2960-2509C>G)
2g.135800647G>TCA348592541LCTc.4826C>A (p.Ser1609Tyr)
c.2960-2509C>A (n.2960-2509C>A)
2g.135800648A>CCA348592548LCTc.4825T>G (p.Ser1609Ala)
c.2960-2510T>G (n.2960-2510T>G)
2g.135800648A>GCA348592550LCTc.4825T>C (p.Ser1609Pro)
c.2960-2510T>C (n.2960-2510T>C)
2g.135800648A>TCA348592553LCTc.4825T>A (p.Ser1609Thr)
c.2960-2510T>A (n.2960-2510T>A)
2g.135800649G>ACA429086338LCTc.4824C>T (p.Pro1608=)
c.2960-2511C>T (n.2960-2511C>T)
dbSNP
2g.135800649G>CCA429086343LCTc.4824C>G (p.Pro1608=)
c.2960-2511C>G (n.2960-2511C>G)
2g.135800649G=CA1290827604LCTc.4824C= (p.Pro1608=)
c.2960-2511C= (n.2960-2511C=)
2g.135800649G>TCA429086340LCTc.4824C>A (p.Pro1608=)
c.2960-2511C>A (n.2960-2511C>A)
2g.135800650G>ACA348592556LCTc.4823C>T (p.Pro1608Leu)
c.2960-2512C>T (n.2960-2512C>T)
2g.135800650G>CCA348592559LCTc.4823C>G (p.Pro1608Arg)
c.2960-2512C>G (n.2960-2512C>G)
2g.135800650G>TCA348592562LCTc.4823C>A (p.Pro1608His)
c.2960-2512C>A (n.2960-2512C>A)
2g.135800651G>ACA348592568LCTc.4822C>T (p.Pro1608Ser)
c.2960-2513C>T (n.2960-2513C>T)
COSMIC
2g.135800651G>CCA348592565LCTc.4822C>G (p.Pro1608Ala)
c.2960-2513C>G (n.2960-2513C>G)
dbSNP gnomAD v4
2g.135800651G=CA1290827605LCTc.4822C= (p.Pro1608=)
c.2960-2513C= (n.2960-2513C=)
2g.135800651G>TCA348592567LCTc.4822C>A (p.Pro1608Thr)
c.2960-2513C>A (n.2960-2513C>A)
2g.135800652A=CA1290827606LCTc.4821T= (p.Asp1607=)
c.2960-2514T= (n.2960-2514T=)
2g.135800652A>CCA348592570LCTc.4821T>G (p.Asp1607Glu)
c.2960-2514T>G (n.2960-2514T>G)
2g.135800652A>GCA429086347LCTc.4821T>C (p.Asp1607=)
c.2960-2514T>C (n.2960-2514T>C)
dbSNP
2g.135800652A>TCA348592572LCTc.4821T>A (p.Asp1607Glu)
c.2960-2514T>A (n.2960-2514T>A)
2g.135800653T>ACA348592576LCTc.4820A>T (p.Asp1607Val)
c.2960-2515A>T (n.2960-2515A>T)
dbSNP gnomAD v2 gnomAD v4
2g.135800653T>CCA348592579LCTc.4820A>G (p.Asp1607Gly)
c.2960-2515A>G (n.2960-2515A>G)
gnomAD v4
2g.135800653T>GCA348592580LCTc.4820A>C (p.Asp1607Ala)
c.2960-2515A>C (n.2960-2515A>C)
2g.135800653T=CA1290827607LCTc.4820A= (p.Asp1607=)
c.2960-2515A= (n.2960-2515A=)
2g.135800654C>ACA348592582LCTc.4819G>T (p.Asp1607Tyr)
c.2960-2516G>T (n.2960-2516G>T)
2g.135800654C>GCA348592588LCTc.4819G>C (p.Asp1607His)
c.2960-2516G>C (n.2960-2516G>C)
2g.135800654C>TCA348592586LCTc.4819G>A (p.Asp1607Asn)
c.2960-2516G>A (n.2960-2516G>A)
2g.135800655T>ACA348592591LCTc.4818A>T (p.Arg1606Ser)
c.2960-2517A>T (n.2960-2517A>T)
2g.135800655T>CCA429086353LCTc.4818A>G (p.Arg1606=)
c.2960-2517A>G (n.2960-2517A>G)
2g.135800655T>GCA348592593LCTc.4818A>C (p.Arg1606Ser)
c.2960-2517A>C (n.2960-2517A>C)
2g.135800656C>ACA348592598LCTc.4817G>T (p.Arg1606Ile)
c.2960-2518G>T (n.2960-2518G>T)
2g.135800656C>GCA348592600LCTc.4817G>C (p.Arg1606Thr)
c.2960-2518G>C (n.2960-2518G>C)
2g.135800656C>TCA348592603LCTc.4817G>A (p.Arg1606Lys)
c.2960-2518G>A (n.2960-2518G>A)
2g.135800657T>ACA348592605LCTc.4816A>T (p.Arg1606Ter)
c.2960-2519A>T (n.2960-2519A>T)
2g.135800657T>CCA348592608LCTc.4816A>G (p.Arg1606Gly)
c.2960-2519A>G (n.2960-2519A>G)
2g.135800657T>GCA429086354LCTc.4816A>C (p.Arg1606=)
c.2960-2519A>C (n.2960-2519A>C)
2g.135800658G>ACA429086356LCTc.4815C>T (p.Pro1605=)
c.2960-2520C>T (n.2960-2520C>T)
dbSNP
2g.135800658G>CCA429086358LCTc.4815C>G (p.Pro1605=)
c.2960-2520C>G (n.2960-2520C>G)
2g.135800658G=CA1290827608LCTc.4815C= (p.Pro1605=)
c.2960-2520C= (n.2960-2520C=)
2g.135800658G>TCA429086359LCTc.4815C>A (p.Pro1605=)
c.2960-2520C>A (n.2960-2520C>A)
2g.135800659G>ACA348592612LCTc.4814C>T (p.Pro1605Leu)
c.2960-2521C>T (n.2960-2521C>T)
gnomAD v4
2g.135800659G>CCA348592619LCTc.4814C>G (p.Pro1605Arg)
c.2960-2521C>G (n.2960-2521C>G)
2g.135800659G>TCA348592622LCTc.4814C>A (p.Pro1605His)
c.2960-2521C>A (n.2960-2521C>A)
2g.135800660G>ACA348592624LCTc.4813C>T (p.Pro1605Ser)
c.2960-2522C>T (n.2960-2522C>T)
dbSNP
2g.135800660G>CCA348592631LCTc.4813C>G (p.Pro1605Ala)
c.2960-2522C>G (n.2960-2522C>G)
2g.135800660G=CA1290827609LCTc.4813C= (p.Pro1605=)
c.2960-2522C= (n.2960-2522C=)
2g.135800660G>TCA348592628LCTc.4813C>A (p.Pro1605Thr)
c.2960-2522C>A (n.2960-2522C>A)
2g.135800661T>ACA348592633LCTc.4812A>T (p.Glu1604Asp)
c.2960-2523A>T (n.2960-2523A>T)
COSMIC
2g.135800661T>CCA429086361LCTc.4812A>G (p.Glu1604=)
c.2960-2523A>G (n.2960-2523A>G)
dbSNP
2g.135800661T>GCA348592635LCTc.4812A>C (p.Glu1604Asp)
c.2960-2523A>C (n.2960-2523A>C)
2g.135800661T=CA1290827610LCTc.4812A= (p.Glu1604=)
c.2960-2523A= (n.2960-2523A=)
2g.135800662T>ACA348592640LCTc.4811A>T (p.Glu1604Val)
c.2960-2524A>T (n.2960-2524A>T)
2g.135800662T>CCA348592646LCTc.4811A>G (p.Glu1604Gly)
c.2960-2524A>G (n.2960-2524A>G)
2g.135800662T>GCA348592644LCTc.4811A>C (p.Glu1604Ala)
c.2960-2524A>C (n.2960-2524A>C)
2g.135800663C>ACA348592649LCTc.4810G>T (p.Glu1604Ter)
c.2960-2525G>T (n.2960-2525G>T)
2g.135800663C>GCA348592653LCTc.4810G>C (p.Glu1604Gln)
c.2960-2525G>C (n.2960-2525G>C)
2g.135800663C>TCA348592655LCTc.4810G>A (p.Glu1604Lys)
c.2960-2525G>A (n.2960-2525G>A)
gnomAD v4
2g.135800664A>CCA429086368LCTc.4809T>G (p.Ala1603=)
c.2960-2526T>G (n.2960-2526T>G)
2g.135800664A>GCA429086364LCTc.4809T>C (p.Ala1603=)
c.2960-2526T>C (n.2960-2526T>C)
ClinVar
2g.135800664A>TCA429086366LCTc.4809T>A (p.Ala1603=)
c.2960-2526T>A (n.2960-2526T>A)
2g.135800665G>ACA348592659LCTc.4808C>T (p.Ala1603Val)
c.2960-2527C>T (n.2960-2527C>T)
2g.135800665G>CCA348592663LCTc.4808C>G (p.Ala1603Gly)
c.2960-2527C>G (n.2960-2527C>G)
COSMIC
2g.135800665G>TCA348592666LCTc.4808C>A (p.Ala1603Asp)
c.2960-2527C>A (n.2960-2527C>A)
2g.135800666C>ACA348592670LCTc.4807G>T (p.Ala1603Ser)
c.2960-2528G>T (n.2960-2528G>T)
2g.135800666C>GCA348592673LCTc.4807G>C (p.Ala1603Pro)
c.2960-2528G>C (n.2960-2528G>C)
2g.135800666C>TCA348592675LCTc.4807G>A (p.Ala1603Thr)
c.2960-2528G>A (n.2960-2528G>A)
2g.135800667C>ACA348592683LCTc.4806G>T (p.Trp1602Cys)
c.2960-2529G>T (n.2960-2529G>T)
2g.135800667C>GCA348592680LCTc.4806G>C (p.Trp1602Cys)
c.2960-2529G>C (n.2960-2529G>C)
2g.135800667C>TCA348592678LCTc.4806G>A (p.Trp1602Ter)
c.2960-2529G>A (n.2960-2529G>A)
2g.135800668C>ACA348592688LCTc.4805G>T (p.Trp1602Leu)
c.2960-2530G>T (n.2960-2530G>T)
COSMIC
2g.135800668C>GCA348592690LCTc.4805G>C (p.Trp1602Ser)
c.2960-2530G>C (n.2960-2530G>C)
2g.135800668C>TCA348592691LCTc.4805G>A (p.Trp1602Ter)
c.2960-2530G>A (n.2960-2530G>A)
2g.135800669A>CCA348592694LCTc.4804T>G (p.Trp1602Gly)
c.2960-2531T>G (n.2960-2531T>G)
2g.135800669A>GCA348592697LCTc.4804T>C (p.Trp1602Arg)
c.2960-2531T>C (n.2960-2531T>C)
2g.135800669A>TCA348592700LCTc.4804T>A (p.Trp1602Arg)
c.2960-2531T>A (n.2960-2531T>A)
2g.135800670G>ACA429086374LCTc.4803C>T (p.Asp1601=)
c.2960-2532C>T (n.2960-2532C>T)
2g.135800670G>CCA348592703LCTc.4803C>G (p.Asp1601Glu)
c.2960-2532C>G (n.2960-2532C>G)
2g.135800670G>TCA348592705LCTc.4803C>A (p.Asp1601Glu)
c.2960-2532C>A (n.2960-2532C>A)
2g.135800671T>ACA348592708LCTc.4802A>T (p.Asp1601Val)
c.2960-2533A>T (n.2960-2533A>T)
2g.135800671T>CCA348592711LCTc.4802A>G (p.Asp1601Gly)
c.2960-2533A>G (n.2960-2533A>G)
2g.135800671T>GCA348592713LCTc.4802A>C (p.Asp1601Ala)
c.2960-2533A>C (n.2960-2533A>C)
2g.135800672C>ACA348592719LCTc.4801G>T (p.Asp1601Tyr)
c.2960-2534G>T (n.2960-2534G>T)
gnomAD v4
2g.135800672C>GCA348592722LCTc.4801G>C (p.Asp1601His)
c.2960-2534G>C (n.2960-2534G>C)
2g.135800672C>TCA348592716LCTc.4801G>A (p.Asp1601Asn)
c.2960-2534G>A (n.2960-2534G>A)
2g.135800673A=CA1290827611LCTc.4800T= (p.Ser1600=)
c.2960-2535T= (n.2960-2535T=)
2g.135800673A>CCA348592724LCTc.4800T>G (p.Ser1600Arg)
c.2960-2535T>G (n.2960-2535T>G)
2g.135800673A>GCA1887771LCTc.4800T>C (p.Ser1600=)
c.2960-2535T>C (n.2960-2535T>C)
dbSNP ExAC gnomAD v2
2g.135800673A>TCA348592729LCTc.4800T>A (p.Ser1600Arg)
c.2960-2535T>A (n.2960-2535T>A)
2g.135800674C>ACA348592734LCTc.4799G>T (p.Ser1600Ile)
c.2960-2536G>T (n.2960-2536G>T)
2g.135800674C>GCA348592736LCTc.4799G>C (p.Ser1600Thr)
c.2960-2536G>C (n.2960-2536G>C)
2g.135800674C>TCA348592739LCTc.4799G>A (p.Ser1600Asn)
c.2960-2536G>A (n.2960-2536G>A)
gnomAD v4
2g.135800675T>ACA348592741LCTc.4798A>T (p.Ser1600Cys)
c.2960-2537A>T (n.2960-2537A>T)
dbSNP
2g.135800675T>CCA348592743LCTc.4798A>G (p.Ser1600Gly)
c.2960-2537A>G (n.2960-2537A>G)
gnomAD v4
2g.135800675T>GCA348592746LCTc.4798A>C (p.Ser1600Arg)
c.2960-2537A>C (n.2960-2537A>C)
2g.135800675T=CA1290827612LCTc.4798A= (p.Ser1600=)
c.2960-2537A= (n.2960-2537A=)
2g.135800676G>ACA429086379LCTc.4797C>T (p.Ser1599=)
c.2960-2538C>T (n.2960-2538C>T)
2g.135800676G>CCA348592749LCTc.4797C>G (p.Ser1599Arg)
c.2960-2538C>G (n.2960-2538C>G)
2g.135800676G>TCA348592753LCTc.4797C>A (p.Ser1599Arg)
c.2960-2538C>A (n.2960-2538C>A)
2g.135800677C>ACA348592760LCTc.4796G>T (p.Ser1599Ile)
c.2960-2539G>T (n.2960-2539G>T)
gnomAD v4
2g.135800677C=CA1290827613LCTc.4796G= (p.Ser1599=)
c.2960-2539G= (n.2960-2539G=)
2g.135800677C>GCA348592763LCTc.4796G>C (p.Ser1599Thr)
c.2960-2539G>C (n.2960-2539G>C)
2g.135800677C>TCA348592756LCTc.4796G>A (p.Ser1599Asn)
c.2960-2539G>A (n.2960-2539G>A)
dbSNP
2g.135800678T>ACA348592767LCTc.4795A>T (p.Ser1599Cys)
c.2960-2540A>T (n.2960-2540A>T)
2g.135800678T>CCA348592771LCTc.4795A>G (p.Ser1599Gly)
c.2960-2540A>G (n.2960-2540A>G)
gnomAD v4
2g.135800678T>GCA348592773LCTc.4795A>C (p.Ser1599Arg)
c.2960-2540A>C (n.2960-2540A>C)
2g.135800679G>ACA429086381LCTc.4794C>T (p.Ile1598=)
c.2960-2541C>T (n.2960-2541C>T)
2g.135800679G>CCA348592775LCTc.4794C>G (p.Ile1598Met)
c.2960-2541C>G (n.2960-2541C>G)
2g.135800679G=CA1290827614LCTc.4794C= (p.Ile1598=)
c.2960-2541C= (n.2960-2541C=)
2g.135800679G>TCA56606891LCTc.4794C>A (p.Ile1598=)
c.2960-2541C>A (n.2960-2541C>A)
dbSNP
2g.135800680A>CCA348592786LCTc.4793T>G (p.Ile1598Ser)
c.2960-2542T>G (n.2960-2542T>G)
2g.135800680A>GCA348592783LCTc.4793T>C (p.Ile1598Thr)
c.2960-2542T>C (n.2960-2542T>C)
2g.135800680A>TCA348592779LCTc.4793T>A (p.Ile1598Asn)
c.2960-2542T>A (n.2960-2542T>A)
2g.135800681T>ACA348592791LCTc.4792A>T (p.Ile1598Phe)
c.2960-2543A>T (n.2960-2543A>T)
2g.135800681T>CCA348592793LCTc.4792A>G (p.Ile1598Val)
c.2960-2543A>G (n.2960-2543A>G)
2g.135800681T>GCA348592795LCTc.4792A>C (p.Ile1598Leu)
c.2960-2543A>C (n.2960-2543A>C)
2g.135800682G>ACA429086382LCTc.4791C>T (p.Thr1597=)
c.2960-2544C>T (n.2960-2544C>T)
dbSNP
2g.135800682G>CCA1887772LCTc.4791C>G (p.Thr1597=)
c.2960-2544C>G (n.2960-2544C>G)
dbSNP ExAC gnomAD v2
2g.135800682G=CA1290827615LCTc.4791C= (p.Thr1597=)
c.2960-2544C= (n.2960-2544C=)
2g.135800682G>TCA429086383LCTc.4791C>A (p.Thr1597=)
c.2960-2544C>A (n.2960-2544C>A)
2g.135800683G>ACA348592801LCTc.4790C>T (p.Thr1597Ile)
c.2960-2545C>T (n.2960-2545C>T)
2g.135800683G>CCA348592804LCTc.4790C>G (p.Thr1597Ser)
c.2960-2545C>G (n.2960-2545C>G)
gnomAD v4
2g.135800683G>TCA348592806LCTc.4790C>A (p.Thr1597Asn)
c.2960-2545C>A (n.2960-2545C>A)
2g.135800684T>ACA1887773LCTc.4789A>T (p.Thr1597Ser)
c.2960-2546A>T (n.2960-2546A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135800684T>CCA348592816LCTc.4789A>G (p.Thr1597Ala)
c.2960-2546A>G (n.2960-2546A>G)
dbSNP gnomAD v4
2g.135800684T>GCA348592810LCTc.4789A>C (p.Thr1597Pro)
c.2960-2546A>C (n.2960-2546A>C)
2g.135800684T=CA1290827616LCTc.4789A= (p.Thr1597=)
c.2960-2546A= (n.2960-2546A=)
2g.135800685G>ACA429086384LCTc.4788C>T (p.Ile1596=)
c.2960-2547C>T (n.2960-2547C>T)
gnomAD v4
2g.135800685G>CCA348592818LCTc.4788C>G (p.Ile1596Met)
c.2960-2547C>G (n.2960-2547C>G)
2g.135800685G>TCA429086385LCTc.4788C>A (p.Ile1596=)
c.2960-2547C>A (n.2960-2547C>A)
2g.135800686A>CCA348592820LCTc.4787T>G (p.Ile1596Ser)
c.2960-2548T>G (n.2960-2548T>G)
2g.135800686A>GCA348592824LCTc.4787T>C (p.Ile1596Thr)
c.2960-2548T>C (n.2960-2548T>C)
2g.135800686A>TCA348592827LCTc.4787T>A (p.Ile1596Asn)
c.2960-2548T>A (n.2960-2548T>A)
2g.135800687T>ACA348592831LCTc.4786A>T (p.Ile1596Phe)
c.2960-2549A>T (n.2960-2549A>T)
2g.135800687T>CCA348592833LCTc.4786A>G (p.Ile1596Val)
c.2960-2549A>G (n.2960-2549A>G)
gnomAD v4
2g.135800687T>GCA348592837LCTc.4786A>C (p.Ile1596Leu)
c.2960-2549A>C (n.2960-2549A>C)
2g.135800688G>ACA429086388LCTc.4785C>T (p.Ser1595=)
c.2960-2550C>T (n.2960-2550C>T)
dbSNP gnomAD v4
2g.135800688G>CCA429086389LCTc.4785C>G (p.Ser1595=)
c.2960-2550C>G (n.2960-2550C>G)
2g.135800688G=CA1290827617LCTc.4785C= (p.Ser1595=)
c.2960-2550C= (n.2960-2550C=)
2g.135800688G>TCA429086390LCTc.4785C>A (p.Ser1595=)
c.2960-2550C>A (n.2960-2550C>A)
2g.135800689G>ACA348592839LCTc.4784C>T (p.Ser1595Phe)
c.2960-2551C>T (n.2960-2551C>T)
2g.135800689G>CCA348592846LCTc.4784C>G (p.Ser1595Cys)
c.2960-2551C>G (n.2960-2551C>G)
2g.135800689G>TCA348592843LCTc.4784C>A (p.Ser1595Tyr)
c.2960-2551C>A (n.2960-2551C>A)
2g.135800690A>CCA348592849LCTc.4783T>G (p.Ser1595Ala)
c.2960-2552T>G (n.2960-2552T>G)
2g.135800690A>GCA348592852LCTc.4783T>C (p.Ser1595Pro)
c.2960-2552T>C (n.2960-2552T>C)
2g.135800690A>TCA348592856LCTc.4783T>A (p.Ser1595Thr)
c.2960-2552T>A (n.2960-2552T>A)
2g.135800691A>CCA348592859LCTc.4782T>G (p.Ile1594Met)
c.2960-2553T>G (n.2960-2553T>G)
2g.135800691A>GCA429086392LCTc.4782T>C (p.Ile1594=)
c.2960-2553T>C (n.2960-2553T>C)
2g.135800691A>TCA429086393LCTc.4782T>A (p.Ile1594=)
c.2960-2553T>A (n.2960-2553T>A)
2g.135800692A>CCA348592869LCTc.4781T>G (p.Ile1594Ser)
c.2960-2554T>G (n.2960-2554T>G)
2g.135800692A>GCA348592862LCTc.4781T>C (p.Ile1594Thr)
c.2960-2554T>C (n.2960-2554T>C)
gnomAD v4
2g.135800692A>TCA348592865LCTc.4781T>A (p.Ile1594Asn)
c.2960-2554T>A (n.2960-2554T>A)
2g.135800693T>ACA348592870LCTc.4780A>T (p.Ile1594Phe)
c.2960-2555A>T (n.2960-2555A>T)
2g.135800693T>CCA348592876LCTc.4780A>G (p.Ile1594Val)
c.2960-2555A>G (n.2960-2555A>G)
2g.135800693T>GCA348592878LCTc.4780A>C (p.Ile1594Leu)
c.2960-2555A>C (n.2960-2555A>C)
2g.135800694C>ACA429086394LCTc.4779G>T (p.Val1593=)
c.2960-2556G>T (n.2960-2556G>T)
2g.135800694C>GCA429086395LCTc.4779G>C (p.Val1593=)
c.2960-2556G>C (n.2960-2556G>C)
2g.135800694C>TCA429086396LCTc.4779G>A (p.Val1593=)
c.2960-2556G>A (n.2960-2556G>A)
2g.135800695A>CCA348592882LCTc.4778T>G (p.Val1593Gly)
c.2960-2557T>G (n.2960-2557T>G)
2g.135800695A>GCA348592884LCTc.4778T>C (p.Val1593Ala)
c.2960-2557T>C (n.2960-2557T>C)
2g.135800695A>TCA348592888LCTc.4778T>A (p.Val1593Glu)
c.2960-2557T>A (n.2960-2557T>A)
2g.135800696C>ACA348592890LCTc.4777G>T (p.Val1593Leu)
c.2960-2558G>T (n.2960-2558G>T)
2g.135800696C=CA1290827618LCTc.4777G= (p.Val1593=)
c.2960-2558G= (n.2960-2558G=)
2g.135800696C>GCA348592894LCTc.4777G>C (p.Val1593Leu)
c.2960-2558G>C (n.2960-2558G>C)
dbSNP gnomAD v3 gnomAD v4
2g.135800696C>TCA1887774LCTc.4777G>A (p.Val1593Met)
c.2960-2558G>A (n.2960-2558G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135800697G>ACA1887775LCTc.4776C>T (p.Gly1592=)
c.2960-2559C>T (n.2960-2559C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135800697G>CCA429086397LCTc.4776C>G (p.Gly1592=)
c.2960-2559C>G (n.2960-2559C>G)
COSMIC
2g.135800697G=CA1290827619LCTc.4776C= (p.Gly1592=)
c.2960-2559C= (n.2960-2559C=)
2g.135800697G>TCA429086398LCTc.4776C>A (p.Gly1592=)
c.2960-2559C>A (n.2960-2559C>A)
dbSNP gnomAD v2 gnomAD v4
2g.135800698C>ACA348592900LCTc.4775G>T (p.Gly1592Val)
c.2960-2560G>T (n.2960-2560G>T)
COSMIC
2g.135800698C>GCA348592908LCTc.4775G>C (p.Gly1592Ala)
c.2960-2560G>C (n.2960-2560G>C)
2g.135800698C>TCA348592910LCTc.4775G>A (p.Gly1592Asp)
c.2960-2560G>A (n.2960-2560G>A)
2g.135800699C>ACA348592914LCTc.4774G>T (p.Gly1592Cys)
c.2960-2561G>T (n.2960-2561G>T)
2g.135800699C>GCA348592918LCTc.4774G>C (p.Gly1592Arg)
c.2960-2561G>C (n.2960-2561G>C)
2g.135800699C>TCA348592915LCTc.4774G>A (p.Gly1592Ser)
c.2960-2561G>A (n.2960-2561G>A)
2g.135800700A>CCA429086399LCTc.4773T>G (p.Gly1591=)
c.2960-2562T>G (n.2960-2562T>G)
2g.135800700A>GCA429086400LCTc.4773T>C (p.Gly1591=)
c.2960-2562T>C (n.2960-2562T>C)
2g.135800700A>TCA429086401LCTc.4773T>A (p.Gly1591=)
c.2960-2562T>A (n.2960-2562T>A)
2g.135800701C>ACA348592920LCTc.4772G>T (p.Gly1591Val)
c.2960-2563G>T (n.2960-2563G>T)
gnomAD v4
2g.135800701C=CA1290827620LCTc.4772G= (p.Gly1591=)
c.2960-2563G= (n.2960-2563G=)
2g.135800701C>GCA348592924LCTc.4772G>C (p.Gly1591Ala)
c.2960-2563G>C (n.2960-2563G>C)
2g.135800701C>TCA348592927LCTc.4772G>A (p.Gly1591Asp)
c.2960-2563G>A (n.2960-2563G>A)
dbSNP gnomAD v3 gnomAD v4
2g.135800702C>ACA348592928LCTc.4771G>T (p.Gly1591Cys)
c.2960-2564G>T (n.2960-2564G>T)
2g.135800702C>GCA348592930LCTc.4771G>C (p.Gly1591Arg)
c.2960-2564G>C (n.2960-2564G>C)
COSMIC
2g.135800702C>TCA348592934LCTc.4771G>A (p.Gly1591Ser)
c.2960-2564G>A (n.2960-2564G>A)
2g.135800703T>ACA348592938LCTc.4770A>T (p.Gln1590His)
c.2960-2565A>T (n.2960-2565A>T)
2g.135800703T>CCA429086404LCTc.4770A>G (p.Gln1590=)
c.2960-2565A>G (n.2960-2565A>G)
2g.135800703T>GCA348592940LCTc.4770A>C (p.Gln1590His)
c.2960-2565A>C (n.2960-2565A>C)
2g.135800704T>ACA348592942LCTc.4769A>T (p.Gln1590Leu)
c.2960-2566A>T (n.2960-2566A>T)
2g.135800704T>CCA348592945LCTc.4769A>G (p.Gln1590Arg)
c.2960-2566A>G (n.2960-2566A>G)
2g.135800704T>GCA348592948LCTc.4769A>C (p.Gln1590Pro)
c.2960-2566A>C (n.2960-2566A>C)
2g.135800705G>ACA348592951LCTc.4768C>T (p.Gln1590Ter)
c.2960-2567C>T (n.2960-2567C>T)
2g.135800705G>CCA348592954LCTc.4768C>G (p.Gln1590Glu)
c.2960-2567C>G (n.2960-2567C>G)
2g.135800705G>TCA348592956LCTc.4768C>A (p.Gln1590Lys)
c.2960-2567C>A (n.2960-2567C>A)
gnomAD v4
2g.135800706A>CCA348592958LCTc.4767T>G (p.Ser1589Arg)
c.2960-2568T>G (n.2960-2568T>G)
2g.135800706A>GCA429086408LCTc.4767T>C (p.Ser1589=)
c.2960-2568T>C (n.2960-2568T>C)
2g.135800706A>TCA348592961LCTc.4767T>A (p.Ser1589Arg)
c.2960-2568T>A (n.2960-2568T>A)
2g.135800707C>ACA348592963LCTc.4766G>T (p.Ser1589Ile)
c.2960-2569G>T (n.2960-2569G>T)
2g.135800707C>GCA348592965LCTc.4766G>C (p.Ser1589Thr)
c.2960-2569G>C (n.2960-2569G>C)
2g.135800707C>TCA348592967LCTc.4766G>A (p.Ser1589Asn)
c.2960-2569G>A (n.2960-2569G>A)
2g.135800708T>ACA348592968LCTc.4765A>T (p.Ser1589Cys)
c.2960-2570A>T (n.2960-2570A>T)
2g.135800708T>CCA348592970LCTc.4765A>G (p.Ser1589Gly)
c.2960-2570A>G (n.2960-2570A>G)
gnomAD v4
2g.135800708T>GCA348592971LCTc.4765A>C (p.Ser1589Arg)
c.2960-2570A>C (n.2960-2570A>C)
dbSNP gnomAD v4
2g.135800708T=CA1290827621LCTc.4765A= (p.Ser1589=)
c.2960-2570A= (n.2960-2570A=)
2g.135800709G>ACA429086436LCTc.4764C>T (p.Ala1588=)
c.2960-2571C>T (n.2960-2571C>T)
2g.135800709G>CCA429086437LCTc.4764C>G (p.Ala1588=)
c.2960-2571C>G (n.2960-2571C>G)
2g.135800709G>TCA429086435LCTc.4764C>A (p.Ala1588=)
c.2960-2571C>A (n.2960-2571C>A)
2g.135800710G>ACA348592973LCTc.4763C>T (p.Ala1588Val)
c.2960-2572C>T (n.2960-2572C>T)
2g.135800710G>CCA348592975LCTc.4763C>G (p.Ala1588Gly)
c.2960-2572C>G (n.2960-2572C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135800710G=CA1290827622LCTc.4763C= (p.Ala1588=)
c.2960-2572C= (n.2960-2572C=)
2g.135800710G>TCA56606905LCTc.4763C>A (p.Ala1588Asp)
c.2960-2572C>A (n.2960-2572C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135800711C>ACA348592978LCTc.4762G>T (p.Ala1588Ser)
c.2960-2573G>T (n.2960-2573G>T)
ClinVar
2g.135800711C=CA1290827623LCTc.4762G= (p.Ala1588=)
c.2960-2573G= (n.2960-2573G=)
2g.135800711C>GCA348592979LCTc.4762G>C (p.Ala1588Pro)
c.2960-2573G>C (n.2960-2573G>C)
2g.135800711C>TCA1887776LCTc.4762G>A (p.Ala1588Thr)
c.2960-2573G>A (n.2960-2573G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135800712G>ACA1887777LCTc.4761C>T (p.Arg1587=)
c.2960-2574C>T (n.2960-2574C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135800712G>CCA429086438LCTc.4761C>G (p.Arg1587=)
c.2960-2574C>G (n.2960-2574C>G)
2g.135800712G=CA1290827624LCTc.4761C= (p.Arg1587=)
c.2960-2574C= (n.2960-2574C=)
2g.135800712G>TCA429086439LCTc.4761C>A (p.Arg1587=)
c.2960-2574C>A (n.2960-2574C>A)
COSMIC
2g.135800713C>ACA348592983LCTc.4760G>T (p.Arg1587Leu)
c.2960-2575G>T (n.2960-2575G>T)
gnomAD v4
2g.135800713C=CA1290827625LCTc.4760G= (p.Arg1587=)
c.2960-2575G= (n.2960-2575G=)
2g.135800713C>GCA348592982LCTc.4760G>C (p.Arg1587Pro)
c.2960-2575G>C (n.2960-2575G>C)
2g.135800713C>TCA1887778LCTc.4760G>A (p.Arg1587His)
c.2960-2575G>A (n.2960-2575G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135800714G>ACA1887779LCTc.4759C>T (p.Arg1587Cys)
c.2960-2576C>T (n.2960-2576C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135800714G>CCA348592990LCTc.4759C>G (p.Arg1587Gly)
c.2960-2576C>G (n.2960-2576C>G)
2g.135800714G=CA1290827626LCTc.4759C= (p.Arg1587=)
c.2960-2576C= (n.2960-2576C=)
2g.135800714G>TCA348592987LCTc.4759C>A (p.Arg1587Ser)
c.2960-2576C>A (n.2960-2576C>A)
gnomAD v4
2g.135800715G>ACA56606910LCTc.4758C>T (p.Tyr1586=)
c.2960-2577C>T (n.2960-2577C>T)
dbSNP gnomAD v3 gnomAD v4
2g.135800715G>CCA348592994LCTc.4758C>G (p.Tyr1586Ter)
c.2960-2577C>G (n.2960-2577C>G)
2g.135800715G=CA1290827627LCTc.4758C= (p.Tyr1586=)
c.2960-2577C= (n.2960-2577C=)
2g.135800715G>TCA348592992LCTc.4758C>A (p.Tyr1586Ter)
c.2960-2577C>A (n.2960-2577C>A)
dbSNP
2g.135800716T>ACA348592996LCTc.4757A>T (p.Tyr1586Phe)
c.2960-2578A>T (n.2960-2578A>T)
2g.135800716T>CCA348592998LCTc.4757A>G (p.Tyr1586Cys)
c.2960-2578A>G (n.2960-2578A>G)
2g.135800716T>GCA348593001LCTc.4757A>C (p.Tyr1586Ser)
c.2960-2578A>C (n.2960-2578A>C)
2g.135800717A>CCA348593007LCTc.4756T>G (p.Tyr1586Asp)
c.2960-2579T>G (n.2960-2579T>G)
2g.135800717A>GCA348593008LCTc.4756T>C (p.Tyr1586His)
c.2960-2579T>C (n.2960-2579T>C)
COSMIC
2g.135800717A>TCA348593009LCTc.4756T>A (p.Tyr1586Asn)
c.2960-2579T>A (n.2960-2579T>A)
2g.135800718C>ACA429086440LCTc.4755G>T (p.Val1585=)
c.2960-2580G>T (n.2960-2580G>T)
2g.135800718C=CA1290827628LCTc.4755G= (p.Val1585=)
c.2960-2580G= (n.2960-2580G=)
2g.135800718C>GCA429086441LCTc.4755G>C (p.Val1585=)
c.2960-2580G>C (n.2960-2580G>C)
2g.135800718C>TCA429086442LCTc.4755G>A (p.Val1585=)
c.2960-2580G>A (n.2960-2580G>A)
dbSNP
2g.135800719A>CCA348593015LCTc.4754T>G (p.Val1585Gly)
c.2960-2581T>G (n.2960-2581T>G)
2g.135800719A>GCA348593018LCTc.4754T>C (p.Val1585Ala)
c.2960-2581T>C (n.2960-2581T>C)
gnomAD v4
2g.135800719A>TCA348593021LCTc.4754T>A (p.Val1585Glu)
c.2960-2581T>A (n.2960-2581T>A)
2g.135800720C>ACA348593023LCTc.4753G>T (p.Val1585Leu)
c.2960-2582G>T (n.2960-2582G>T)
2g.135800720C=CA1290827629LCTc.4753G= (p.Val1585=)
c.2960-2582G= (n.2960-2582G=)
2g.135800720C>GCA348593026LCTc.4753G>C (p.Val1585Leu)
c.2960-2582G>C (n.2960-2582G>C)
2g.135800720C>TCA348593028LCTc.4753G>A (p.Val1585Met)
c.2960-2582G>A (n.2960-2582G>A)
dbSNP gnomAD v2 gnomAD v4
2g.135800721A=CA1290827630LCTc.4752T= (p.Asp1584=)
c.2960-2583T= (n.2960-2583T=)
2g.135800721A>CCA348593033LCTc.4752T>G (p.Asp1584Glu)
c.2960-2583T>G (n.2960-2583T>G)
2g.135800721A>GCA429086443LCTc.4752T>C (p.Asp1584=)
c.2960-2583T>C (n.2960-2583T>C)
dbSNP gnomAD v2 gnomAD v4
2g.135800721A>TCA348593031LCTc.4752T>A (p.Asp1584Glu)
c.2960-2583T>A (n.2960-2583T>A)
2g.135800722T>ACA348593036LCTc.4751A>T (p.Asp1584Val)
c.2960-2584A>T (n.2960-2584A>T)
2g.135800722T>CCA348593039LCTc.4751A>G (p.Asp1584Gly)
c.2960-2584A>G (n.2960-2584A>G)
2g.135800722T>GCA348593041LCTc.4751A>C (p.Asp1584Ala)
c.2960-2584A>C (n.2960-2584A>C)
2g.135800723C>ACA348593042LCTc.4750G>T (p.Asp1584Tyr)
c.2960-2585G>T (n.2960-2585G>T)
COSMIC
2g.135800723C=CA1290827631LCTc.4750G= (p.Asp1584=)
c.2960-2585G= (n.2960-2585G=)
2g.135800723C>GCA348593044LCTc.4750G>C (p.Asp1584His)
c.2960-2585G>C (n.2960-2585G>C)
2g.135800723C>TCA1887780LCTc.4750G>A (p.Asp1584Asn)
c.2960-2585G>A (n.2960-2585G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135800724G>ACA1887781LCTc.4749C>T (p.Asn1583=)
c.2960-2586C>T (n.2960-2586C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135800724G>CCA348593047LCTc.4749C>G (p.Asn1583Lys)
c.2960-2586C>G (n.2960-2586C>G)
2g.135800724G=CA1290827632LCTc.4749C= (p.Asn1583=)
c.2960-2586C= (n.2960-2586C=)
2g.135800724G>TCA348593049LCTc.4749C>A (p.Asn1583Lys)
c.2960-2586C>A (n.2960-2586C>A)
2g.135800725T>ACA348593051LCTc.4748A>T (p.Asn1583Ile)
c.2960-2587A>T (n.2960-2587A>T)
gnomAD v4
2g.135800725T>CCA348593053LCTc.4748A>G (p.Asn1583Ser)
c.2960-2587A>G (n.2960-2587A>G)
2g.135800725T>GCA348593054LCTc.4748A>C (p.Asn1583Thr)
c.2960-2587A>C (n.2960-2587A>C)
2g.135800726T>ACA348593062LCTc.4747A>T (p.Asn1583Tyr)
c.2960-2588A>T (n.2960-2588A>T)
2g.135800726T>CCA348593060LCTc.4747A>G (p.Asn1583Asp)
c.2960-2588A>G (n.2960-2588A>G)
2g.135800726T>GCA348593057LCTc.4747A>C (p.Asn1583His)
c.2960-2588A>C (n.2960-2588A>C)
2g.135800727G>ACA429086444LCTc.4746C>T (p.Tyr1582=)
c.2960-2589C>T (n.2960-2589C>T)
ClinVar dbSNP gnomAD v4
2g.135800727G>CCA348593070LCTc.4746C>G (p.Tyr1582Ter)
c.2960-2589C>G (n.2960-2589C>G)
2g.135800727G=CA1290827633LCTc.4746C= (p.Tyr1582=)
c.2960-2589C= (n.2960-2589C=)
2g.135800727G>TCA348593066LCTc.4746C>A (p.Tyr1582Ter)
c.2960-2589C>A (n.2960-2589C>A)
2g.135800728T>ACA348593072LCTc.4745A>T (p.Tyr1582Phe)
c.2960-2590A>T (n.2960-2590A>T)
2g.135800728T>CCA348593073LCTc.4745A>G (p.Tyr1582Cys)
c.2960-2590A>G (n.2960-2590A>G)
2g.135800728T>GCA348593076LCTc.4745A>C (p.Tyr1582Ser)
c.2960-2590A>C (n.2960-2590A>C)
2g.135800729A>CCA348593078LCTc.4744T>G (p.Tyr1582Asp)
c.2960-2591T>G (n.2960-2591T>G)
2g.135800729A>GCA348593080LCTc.4744T>C (p.Tyr1582His)
c.2960-2591T>C (n.2960-2591T>C)
2g.135800729A>TCA348593083LCTc.4744T>A (p.Tyr1582Asn)
c.2960-2591T>A (n.2960-2591T>A)
2g.135800730C>ACA429086445LCTc.4743G>T (p.Leu1581=)
c.2960-2592G>T (n.2960-2592G>T)
2g.135800730C>GCA429086446LCTc.4743G>C (p.Leu1581=)
c.2960-2592G>C (n.2960-2592G>C)
2g.135800730C>TCA429086447LCTc.4743G>A (p.Leu1581=)
c.2960-2592G>A (n.2960-2592G>A)
gnomAD v4
2g.135800731A>CCA348593085LCTc.4742T>G (p.Leu1581Arg)
c.2960-2593T>G (n.2960-2593T>G)
2g.135800731A>GCA348593087LCTc.4742T>C (p.Leu1581Pro)
c.2960-2593T>C (n.2960-2593T>C)
gnomAD v4
2g.135800731A>TCA348593086LCTc.4742T>A (p.Leu1581Gln)
c.2960-2593T>A (n.2960-2593T>A)
2g.135800731_135800734dupCA2661274838LCTc.4739_4742dup (p.Tyr1582SerfsTer21)
c.2960-2596_2960-2593dup (n.2960-2596_2960-2593dup)
gnomAD v4
2g.135800732G>ACA429086448LCTc.4741C>T (p.Leu1581=)
c.2960-2594C>T (n.2960-2594C>T)
2g.135800732G>CCA348593090LCTc.4741C>G (p.Leu1581Val)
c.2960-2594C>G (n.2960-2594C>G)
2g.135800732G>TCA348593093LCTc.4741C>A (p.Leu1581Met)
c.2960-2594C>A (n.2960-2594C>A)
2g.135800733A>CCA348593095LCTc.4740T>G (p.His1580Gln)
c.2960-2595T>G (n.2960-2595T>G)
2g.135800733A>GCA429086449LCTc.4740T>C (p.His1580=)
c.2960-2595T>C (n.2960-2595T>C)
2g.135800733A>TCA348593098LCTc.4740T>A (p.His1580Gln)
c.2960-2595T>A (n.2960-2595T>A)
2g.135800734T>ACA348593099LCTc.4739A>T (p.His1580Leu)
c.2960-2596A>T (n.2960-2596A>T)
2g.135800734T>CCA348593104LCTc.4739A>G (p.His1580Arg)
c.2960-2596A>G (n.2960-2596A>G)
gnomAD v4
2g.135800734T>GCA348593101LCTc.4739A>C (p.His1580Pro)
c.2960-2596A>C (n.2960-2596A>C)
2g.135800735G>ACA348593106LCTc.4738C>T (p.His1580Tyr)
c.2960-2597C>T (n.2960-2597C>T)
2g.135800735G>CCA348593107LCTc.4738C>G (p.His1580Asp)
c.2960-2597C>G (n.2960-2597C>G)
2g.135800735G>TCA348593109LCTc.4738C>A (p.His1580Asn)
c.2960-2597C>A (n.2960-2597C>A)
gnomAD v4
2g.135800736C>ACA348593110LCTc.4737G>T (p.Trp1579Cys)
c.2960-2598G>T (n.2960-2598G>T)
2g.135800736C>GCA348593112LCTc.4737G>C (p.Trp1579Cys)
c.2960-2598G>C (n.2960-2598G>C)
2g.135800736C>TCA348593113LCTc.4737G>A (p.Trp1579Ter)
c.2960-2598G>A (n.2960-2598G>A)
2g.135800737C>ACA348593115LCTc.4736G>T (p.Trp1579Leu)
c.2960-2599G>T (n.2960-2599G>T)
2g.135800737C>GCA348593118LCTc.4736G>C (p.Trp1579Ser)
c.2960-2599G>C (n.2960-2599G>C)
2g.135800737C>TCA348593121LCTc.4736G>A (p.Trp1579Ter)
c.2960-2599G>A (n.2960-2599G>A)
2g.135800738A>CCA348593127LCTc.4735T>G (p.Trp1579Gly)
c.2960-2600T>G (n.2960-2600T>G)
2g.135800738A>GCA348593129LCTc.4735T>C (p.Trp1579Arg)
c.2960-2600T>C (n.2960-2600T>C)
2g.135800738A>TCA348593131LCTc.4735T>A (p.Trp1579Arg)
c.2960-2600T>A (n.2960-2600T>A)
2g.135800739G>ACA429086450LCTc.4734C>T (p.Ala1578=)
c.2960-2601C>T (n.2960-2601C>T)
dbSNP
2g.135800739G>CCA429086451LCTc.4734C>G (p.Ala1578=)
c.2960-2601C>G (n.2960-2601C>G)
gnomAD v4
2g.135800739G=CA1290827634LCTc.4734C= (p.Ala1578=)
c.2960-2601C= (n.2960-2601C=)
2g.135800739G>TCA429086452LCTc.4734C>A (p.Ala1578=)
c.2960-2601C>A (n.2960-2601C>A)
2g.135800740G>ACA1887782LCTc.4733C>T (p.Ala1578Val)
c.2960-2602C>T (n.2960-2602C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135800740G>CCA348593136LCTc.4733C>G (p.Ala1578Gly)
c.2960-2602C>G (n.2960-2602C>G)
gnomAD v4
2g.135800740G=CA1290827635LCTc.4733C= (p.Ala1578=)
c.2960-2602C= (n.2960-2602C=)
2g.135800740G>TCA348593133LCTc.4733C>A (p.Ala1578Asp)
c.2960-2602C>A (n.2960-2602C>A)
gnomAD v4
2g.135800741C>ACA348593139LCTc.4732G>T (p.Ala1578Ser)
c.2960-2603G>T (n.2960-2603G>T)
2g.135800741C>GCA348593144LCTc.4732G>C (p.Ala1578Pro)
c.2960-2603G>C (n.2960-2603G>C)
2g.135800741C>TCA348593142LCTc.4732G>A (p.Ala1578Thr)
c.2960-2603G>A (n.2960-2603G>A)
gnomAD v4
2g.135800742C>ACA348593147LCTc.4731G>T (p.Glu1577Asp)
c.2960-2604G>T (n.2960-2604G>T)
2g.135800742C>GCA348593150LCTc.4731G>C (p.Glu1577Asp)
c.2960-2604G>C (n.2960-2604G>C)
2g.135800742C>TCA429086453LCTc.4731G>A (p.Glu1577=)
c.2960-2604G>A (n.2960-2604G>A)
2g.135800743T>ACA348593153LCTc.4730A>T (p.Glu1577Val)
c.2960-2605A>T (n.2960-2605A>T)
2g.135800743T>CCA348593155LCTc.4730A>G (p.Glu1577Gly)
c.2960-2605A>G (n.2960-2605A>G)
2g.135800743T>GCA348593156LCTc.4730A>C (p.Glu1577Ala)
c.2960-2605A>C (n.2960-2605A>C)
2g.135800744C>ACA348593160LCTc.4729G>T (p.Glu1577Ter)
c.2960-2606G>T (n.2960-2606G>T)
2g.135800744C=CA1290827636LCTc.4729G= (p.Glu1577=)
c.2960-2606G= (n.2960-2606G=)
2g.135800744C>GCA348593163LCTc.4729G>C (p.Glu1577Gln)
c.2960-2606G>C (n.2960-2606G>C)
dbSNP
2g.135800744C>TCA348593165LCTc.4729G>A (p.Glu1577Lys)
c.2960-2606G>A (n.2960-2606G>A)
2g.135800745A=CA1290827637LCTc.4728T= (p.Ala1576=)
c.2960-2607T= (n.2960-2607T=)
2g.135800745A>CCA429086454LCTc.4728T>G (p.Ala1576=)
c.2960-2607T>G (n.2960-2607T>G)
2g.135800745A>GCA429086455LCTc.4728T>C (p.Ala1576=)
c.2960-2607T>C (n.2960-2607T>C)
2g.135800745A>TCA429086456LCTc.4728T>A (p.Ala1576=)
c.2960-2607T>A (n.2960-2607T>A)
2g.135800746G>ACA348593168LCTc.4727C>T (p.Ala1576Val)
c.2960-2608C>T (n.2960-2608C>T)
gnomAD v4 COSMIC
2g.135800746G>CCA348593170LCTc.4727C>G (p.Ala1576Gly)
c.2960-2608C>G (n.2960-2608C>G)
2g.135800746G>TCA348593173LCTc.4727C>A (p.Ala1576Asp)
c.2960-2608C>A (n.2960-2608C>A)
2g.135800747_135800784dupCA536394701LCTc.4690_4727dup (p.Glu1577ProfsTer8)
c.2960-2645_2960-2608dup (n.2960-2645_2960-2608dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched