Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24301896C>ACA650567968DCDC2c.426-50G>T (n.426-50G>T)
6g.24301896C=CA1616409718DCDC2c.426-50G= (n.426-50G=)
6g.24301896C>TCA566291323DCDC2c.426-50G>A (n.426-50G>A)
dbSNP gnomAD v2 gnomAD v4
6g.24301897A=CA1616409726DCDC2c.426-51T= (n.426-51T=)
6g.24301897A>GCA1616409724DCDC2c.426-51T>C (n.426-51T>C)
dbSNP
6g.24301899C>ACA2677515285DCDC2c.426-53G>T (n.426-53G>T)
gnomAD v4
6g.24301901C=CA1616409730DCDC2c.426-55G= (n.426-55G=)
6g.24301901C>TCA1616409731DCDC2c.426-55G>A (n.426-55G>A)
dbSNP
6g.24301905T>CCA2770324948DCDC2c.426-59A>G (n.426-59A>G)
6g.24301906T>ACA2770324949DCDC2c.426-60A>T (n.426-60A>T)
6g.24301906T>CCA136637330DCDC2c.426-60A>G (n.426-60A>G)
dbSNP gnomAD v3 gnomAD v4
6g.24301906T=CA1616409733DCDC2c.426-60A= (n.426-60A=)
6g.24301909A=CA1616409738DCDC2c.425+59T= (n.425+59T=)
6g.24301909A>CCA823297812DCDC2c.425+59T>G (n.425+59T>G)
dbSNP gnomAD v3 gnomAD v4
6g.24301909A>GCA136637331DCDC2c.425+59T>C (n.425+59T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301910A>GCA2677515286DCDC2c.425+58T>C (n.425+58T>C)
gnomAD v4
6g.24301910A>TCA2677515287DCDC2c.425+58T>A (n.425+58T>A)
gnomAD v4
6g.24301912C>GCA2677515288DCDC2c.425+56G>C (n.425+56G>C)
gnomAD v4
6g.24301912_24301913insACACCCAACACA2770324950DCDC2c.425+55_425+56insTGTTGGGTGT (n.425+55_425+56insTGTTGGGTGT)
6g.24301913C>ACA2677515289DCDC2c.425+55G>T (n.425+55G>T)
gnomAD v4
6g.24301917A>CCA2677515290DCDC2c.425+51T>G (n.425+51T>G)
gnomAD v4
6g.24301918G>CCA2770324951DCDC2c.425+50C>G (n.425+50C>G)
6g.24301919G>CCA2770324952DCDC2c.425+49C>G (n.425+49C>G)
6g.24301920A=CA1616409744DCDC2c.425+48T= (n.425+48T=)
6g.24301920A>GCA3654767DCDC2c.425+48T>C (n.425+48T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301922A=CA1616409747DCDC2c.425+46T= (n.425+46T=)
6g.24301922A>CCA1616409748DCDC2c.425+46T>G (n.425+46T>G)
dbSNP
6g.24301922A>TCA566291324DCDC2c.425+46T>A (n.425+46T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301923C=CA1616409751DCDC2c.425+45G= (n.425+45G=)
6g.24301923C>TCA823297821DCDC2c.425+45G>A (n.425+45G>A)
dbSNP gnomAD v3 gnomAD v4
6g.24301923_24301924insACACCCAACACA2770324953DCDC2c.425+44_425+45insTGTTGGGTGT (n.425+44_425+45insTGTTGGGTGT)
6g.24301926C>ACA2532423042DCDC2c.425+42G>T (n.425+42G>T)
6g.24301926C=CA1616409753DCDC2c.425+42G= (n.425+42G=)
6g.24301926C>GCA1086942191DCDC2c.425+42G>C (n.425+42G>C)
dbSNP gnomAD v3 gnomAD v4
6g.24301926C>TCA3654768DCDC2c.425+42G>A (n.425+42G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301929A=CA1616409755DCDC2c.425+39T= (n.425+39T=)
6g.24301929A>CCA2677515291DCDC2c.425+39T>G (n.425+39T>G)
gnomAD v4
6g.24301929A>TCA3654769DCDC2c.425+39T>A (n.425+39T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301930G>ACA2677515292DCDC2c.425+38C>T (n.425+38C>T)
gnomAD v4
6g.24301934A>GCA2677515293DCDC2c.425+34T>C (n.425+34T>C)
gnomAD v4
6g.24301935T>ACA2581547965DCDC2c.425+33A>T (n.425+33A>T)
6g.24301935T>CCA3654770DCDC2c.425+33A>G (n.425+33A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301935T>GCA2581547966DCDC2c.425+33A>C (n.425+33A>C)
6g.24301935T=CA1616409758DCDC2c.425+33A= (n.425+33A=)
6g.24301937T>GCA3654771DCDC2c.425+31A>C (n.425+31A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301937T=CA1616409767DCDC2c.425+31A= (n.425+31A=)
6g.24301938_24301944delinsTAACTTGCA1616409776DCDC2c.425+24_425+30delinsCAAGTTA (n.425+24_425+30delinsCAAGTTA)
6g.24301941_24301946delCA566291325DCDC2c.425+24_425+29del (n.425+24_425+29del)
dbSNP gnomAD v2 gnomAD v4
6g.24301941C>ACA650567969DCDC2c.425+27G>T (n.425+27G>T)
COSMIC COSMIC
6g.24301941C=CA1616409784DCDC2c.425+27G= (n.425+27G=)
6g.24301941C>GCA136637332DCDC2c.425+27G>C (n.425+27G>C)
dbSNP gnomAD v4
6g.24301941C>TCA3654772DCDC2c.425+27G>A (n.425+27G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301944delCA2578541721DCDC2c.425+24del (n.425+24del)
6g.24301946A=CA1616409789DCDC2c.425+22T= (n.425+22T=)
6g.24301946A>CCA3654773DCDC2c.425+22T>G (n.425+22T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301947G>ACA3654774DCDC2c.425+21C>T (n.425+21C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301947G=CA1616409792DCDC2c.425+21C= (n.425+21C=)
6g.24301947dupCA2677515294DCDC2c.425+21dup (n.425+21dup)
gnomAD v4
6g.24301950T>CCA2677515295DCDC2c.425+18A>G (n.425+18A>G)
gnomAD v4
6g.24301950_24301951delinsTACA1616409796DCDC2c.425+17_425+18delinsTA (n.425+17_425+18delinsTA)
6g.24301951A=CA1616409803DCDC2c.425+17T= (n.425+17T=)
6g.24301951A>GCA566291327DCDC2c.425+17T>C (n.425+17T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301953delCA566291326DCDC2c.425+17del (n.425+17del)
dbSNP gnomAD v2 gnomAD v4
6g.24301952A=CA1616409806DCDC2c.425+16T= (n.425+16T=)
6g.24301952A>CCA3654775DCDC2c.425+16T>G (n.425+16T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301954G>CCA1616409809DCDC2c.425+14C>G (n.425+14C>G)
dbSNP gnomAD v4
6g.24301954G=CA1616409808DCDC2c.425+14C= (n.425+14C=)
6g.24301954G>TCA3654776DCDC2c.425+14C>A (n.425+14C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301956delCA2677515296DCDC2c.425+14del (n.425+14del)
gnomAD v4
6g.24301955G>ACA566291328DCDC2c.425+13C>T (n.425+13C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301955G=CA1616409813DCDC2c.425+13C= (n.425+13C=)
6g.24301955G>TCA3654777DCDC2c.425+13C>A (n.425+13C>A)
dbSNP ExAC gnomAD v2
6g.24301955_24301963delCA2677515297DCDC2c.425+5_425+13del (n.425+5_425+13del)
gnomAD v4
6g.24301956G>CCA2770324957DCDC2c.425+12C>G (n.425+12C>G)
6g.24301956G>TCA2677515298DCDC2c.425+12C>A (n.425+12C>A)
gnomAD v4
6g.24301957T>ACA2677515299DCDC2c.425+11A>T (n.425+11A>T)
ClinVar gnomAD v4
6g.24301957T>GCA823297870DCDC2c.425+11A>C (n.425+11A>C)
dbSNP gnomAD v3 gnomAD v4
6g.24301957T=CA1616409814DCDC2c.425+11A= (n.425+11A=)
6g.24301961A=CA1616409816DCDC2c.425+7T= (n.425+7T=)
6g.24301961A>CCA823297879DCDC2c.425+7T>G (n.425+7T>G)
dbSNP gnomAD v3 gnomAD v4
6g.24301962A=CA1616409817DCDC2c.425+6T= (n.425+6T=)
6g.24301962A>GCA1616409820DCDC2c.425+6T>C (n.425+6T>C)
dbSNP
6g.24301964T>GCA2677515300DCDC2c.425+4A>C (n.425+4A>C)
gnomAD v4
6g.24301965T>CCA566291329DCDC2c.425+3A>G (n.425+3A>G)
dbSNP gnomAD v2 gnomAD v4
6g.24301965T=CA1616409827DCDC2c.425+3A= (n.425+3A=)
6g.24301966A>CCA363281184DCDC2c.425+2T>G (n.425+2T>G)
6g.24301966A>GCA363281183DCDC2c.425+2T>C (n.425+2T>C)
6g.24301966A>TCA363281182DCDC2c.425+2T>A (n.425+2T>A)
6g.24301967C>ACA136637333DCDC2c.425+1G>T (n.425+1G>T)
dbSNP
6g.24301967C=CA1616409832DCDC2c.425+1G= (n.425+1G=)
6g.24301967C>GCA363281185DCDC2c.425+1G>C (n.425+1G>C)
6g.24301967C>TCA363281186DCDC2c.425+1G>A (n.425+1G>A)
6g.24301968A>CCA363281187DCDC2c.425T>G (p.Phe142Cys)
6g.24301968A>GCA363281188DCDC2c.425T>C (p.Phe142Ser)
6g.24301968A>TCA363281189DCDC2c.425T>A (p.Phe142Tyr)
6g.24301969A>CCA363281190DCDC2c.424T>G (p.Phe142Val)
6g.24301969A>GCA363281191DCDC2c.424T>C (p.Phe142Leu)
6g.24301969A>TCA363281192DCDC2c.424T>A (p.Phe142Ile)
gnomAD v4
6g.24301970G>ACA448951401DCDC2c.423C>T (p.Ile141=)
gnomAD v4
6g.24301970G>CCA3654778DCDC2c.423C>G (p.Ile141Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301970G=CA1616409835DCDC2c.423C= (p.Ile141=)
6g.24301970G>TCA448951402DCDC2c.423C>A (p.Ile141=)
6g.24301971A>CCA363281193DCDC2c.422T>G (p.Ile141Ser)
6g.24301971A>GCA363281194DCDC2c.422T>C (p.Ile141Thr)
6g.24301971A>TCA363281195DCDC2c.422T>A (p.Ile141Asn)
6g.24301972T>ACA363281196DCDC2c.421A>T (p.Ile141Phe)
6g.24301972T>CCA363281197DCDC2c.421A>G (p.Ile141Val)
6g.24301972T>GCA3654779DCDC2c.421A>C (p.Ile141Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301972T=CA1616409840DCDC2c.421A= (p.Ile141=)
6g.24301973A>CCA448951405DCDC2c.420T>G (p.Thr140=)
6g.24301973A>GCA448951404DCDC2c.420T>C (p.Thr140=)
6g.24301973A>TCA448951403DCDC2c.420T>A (p.Thr140=)
6g.24301974G>ACA363281200DCDC2c.419C>T (p.Thr140Ile)
6g.24301974G>CCA363281198DCDC2c.419C>G (p.Thr140Ser)
6g.24301974G>TCA363281199DCDC2c.419C>A (p.Thr140Asn)
6g.24301975T>ACA363281201DCDC2c.418A>T (p.Thr140Ser)
6g.24301975T>CCA363281202DCDC2c.418A>G (p.Thr140Ala)
dbSNP
6g.24301975T>GCA363281203DCDC2c.418A>C (p.Thr140Pro)
6g.24301975T=CA1616409844DCDC2c.418A= (p.Thr140=)
6g.24301976G>ACA448951406DCDC2c.417C>T (p.Cys139=)
6g.24301976G>CCA363281204DCDC2c.417C>G (p.Cys139Trp)
6g.24301976G>TCA363281205DCDC2c.417C>A (p.Cys139Ter)
6g.24301977C>ACA363281206DCDC2c.416G>T (p.Cys139Phe)
6g.24301977C>GCA363281208DCDC2c.416G>C (p.Cys139Ser)
6g.24301977C>TCA363281207DCDC2c.416G>A (p.Cys139Tyr)
6g.24301978A=CA1616409857DCDC2c.415T= (p.Cys139=)
6g.24301978A>CCA3654780DCDC2c.415T>G (p.Cys139Gly)
dbSNP ExAC
6g.24301978A>GCA363281209DCDC2c.415T>C (p.Cys139Arg)
6g.24301978A>TCA363281210DCDC2c.415T>A (p.Cys139Ser)
6g.24301979C>ACA448951407DCDC2c.414G>T (p.Pro138=)
6g.24301979C=CA1616409862DCDC2c.414G= (p.Pro138=)
6g.24301979C>GCA448951408DCDC2c.414G>C (p.Pro138=)
6g.24301979C>TCA3654781DCDC2c.414G>A (p.Pro138=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301980G>ACA363281211DCDC2c.413C>T (p.Pro138Leu)
gnomAD v4
6g.24301980G>CCA363281213DCDC2c.413C>G (p.Pro138Arg)
6g.24301980G=CA1616409867DCDC2c.413C= (p.Pro138=)
6g.24301980G>TCA363281212DCDC2c.413C>A (p.Pro138Gln)
dbSNP
6g.24301981G>ACA363281214DCDC2c.412C>T (p.Pro138Ser)
6g.24301981G>CCA363281215DCDC2c.412C>G (p.Pro138Ala)
6g.24301981G>TCA363281216DCDC2c.412C>A (p.Pro138Thr)
6g.24301982C>ACA363281217DCDC2c.411G>T (p.Glu137Asp)
6g.24301982C=CA1616409873DCDC2c.411G= (p.Glu137=)
6g.24301982C>GCA363281218DCDC2c.411G>C (p.Glu137Asp)
6g.24301982C>TCA136637334DCDC2c.411G>A (p.Glu137=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301983T>ACA363281219DCDC2c.410A>T (p.Glu137Val)
6g.24301983T>CCA363281220DCDC2c.410A>G (p.Glu137Gly)
6g.24301983T>GCA363281221DCDC2c.410A>C (p.Glu137Ala)
6g.24301984C>ACA363281222DCDC2c.409G>T (p.Glu137Ter)
6g.24301984C>GCA363281223DCDC2c.409G>C (p.Glu137Gln)
6g.24301984C>TCA363281224DCDC2c.409G>A (p.Glu137Lys)
6g.24301985C>ACA363281226DCDC2c.408G>T (p.Gln136His)
6g.24301985C>GCA363281225DCDC2c.408G>C (p.Gln136His)
6g.24301985C>TCA448951409DCDC2c.408G>A (p.Gln136=)
6g.24301986T>ACA363281227DCDC2c.407A>T (p.Gln136Leu)
6g.24301986T>CCA363281228DCDC2c.407A>G (p.Gln136Arg)
6g.24301986T>GCA363281229DCDC2c.407A>C (p.Gln136Pro)
6g.24301987G>ACA363281230DCDC2c.406C>T (p.Gln136Ter)
gnomAD v4
6g.24301987G>CCA363281231DCDC2c.406C>G (p.Gln136Glu)
6g.24301987G>TCA363281232DCDC2c.406C>A (p.Gln136Lys)
6g.24301988A>CCA448951410DCDC2c.405T>G (p.Leu135=)
6g.24301988A>GCA448951411DCDC2c.405T>C (p.Leu135=)
6g.24301988A>TCA448951412DCDC2c.405T>A (p.Leu135=)
6g.24301989A=CA1616409880DCDC2c.404T= (p.Leu135=)
6g.24301989A>CCA363281234DCDC2c.404T>G (p.Leu135Arg)
6g.24301989A>GCA136637335DCDC2c.404T>C (p.Leu135Pro)
dbSNP gnomAD v4
6g.24301989A>TCA363281233DCDC2c.404T>A (p.Leu135His)
6g.24301990G>ACA363281235DCDC2c.403C>T (p.Leu135Phe)
6g.24301990G>CCA363281236DCDC2c.403C>G (p.Leu135Val)
6g.24301990G>TCA363281237DCDC2c.403C>A (p.Leu135Ile)
6g.24301991C>ACA3654783DCDC2c.402G>T (p.Pro134=)
dbSNP ExAC gnomAD v3 gnomAD v4
6g.24301991C=CA1616409892DCDC2c.402G= (p.Pro134=)
6g.24301991C>GCA448951413DCDC2c.402G>C (p.Pro134=)
6g.24301991C>TCA3654782DCDC2c.402G>A (p.Pro134=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301992G>ACA3654784DCDC2c.401C>T (p.Pro134Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301992G>CCA363281238DCDC2c.401C>G (p.Pro134Arg)
6g.24301992G=CA1616409907DCDC2c.401C= (p.Pro134=)
6g.24301992G>TCA363281239DCDC2c.401C>A (p.Pro134Gln)
6g.24301993G>ACA363281240DCDC2c.400C>T (p.Pro134Ser)
6g.24301993G>CCA363281241DCDC2c.400C>G (p.Pro134Ala)
6g.24301993G=CA1616409913DCDC2c.400C= (p.Pro134=)
6g.24301993G>TCA363281242DCDC2c.400C>A (p.Pro134Thr)
dbSNP gnomAD v3 gnomAD v4
6g.24301994T>ACA363281243DCDC2c.399A>T (p.Lys133Asn)
6g.24301994T>CCA448951414DCDC2c.399A>G (p.Lys133=)
6g.24301994T>GCA363281244DCDC2c.399A>C (p.Lys133Asn)
6g.24301995T>ACA363281245DCDC2c.398A>T (p.Lys133Ile)
6g.24301995T>CCA363281246DCDC2c.398A>G (p.Lys133Arg)
6g.24301995T>GCA363281247DCDC2c.398A>C (p.Lys133Thr)
dbSNP gnomAD v2 gnomAD v4
6g.24301995T=CA1616409920DCDC2c.398A= (p.Lys133=)
6g.24301996T>ACA363281248DCDC2c.397A>T (p.Lys133Ter)
6g.24301996T>CCA363281249DCDC2c.397A>G (p.Lys133Glu)
6g.24301996T>GCA363281250DCDC2c.397A>C (p.Lys133Gln)

Number of alleles fetched