Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.42730566_42730570delCA712947228CDAN1c.2174+30_2174+34del (n.2174+30_2174+34del)
c.*1352+30_*1352+34del (n.*1352+30_*1352+34del)
c.167+30_167+34del (n.167+30_167+34del)
c.2177+30_2177+34del (n.2177+30_2177+34del)
c.2201+30_2201+34del (n.2201+30_2201+34del)
c.2198+30_2198+34del (n.2198+30_2198+34del)
c.1166+30_1166+34del (n.1166+30_1166+34del)
c.1418+30_1418+34del (n.1418+30_1418+34del)
n.2174+30_2174+34del
n.2231+30_2231+34del
n.2194+30_2194+34del
 dbSNP gnomAD v3 gnomAD v4
15g.42730568_42730571delinsTTCACA2172870061CDAN1c.2174+27_2174+30delinsTGAA (n.2174+27_2174+30delinsTGAA)
c.*1352+27_*1352+30delinsTGAA (n.*1352+27_*1352+30delinsTGAA)
c.167+27_167+30delinsTGAA (n.167+27_167+30delinsTGAA)
c.2177+27_2177+30delinsTGAA (n.2177+27_2177+30delinsTGAA)
c.2201+27_2201+30delinsTGAA (n.2201+27_2201+30delinsTGAA)
c.2198+27_2198+30delinsTGAA (n.2198+27_2198+30delinsTGAA)
c.1166+27_1166+30delinsTGAA (n.1166+27_1166+30delinsTGAA)
c.1418+27_1418+30delinsTGAA (n.1418+27_1418+30delinsTGAA)
n.2174+27_2174+30delinsTGAA
n.2231+27_2231+30delinsTGAA
n.2194+27_2194+30delinsTGAA
15g.42730572_42730574delCA712947232CDAN1c.2174+27_2174+29del (n.2174+27_2174+29del)
c.*1352+27_*1352+29del (n.*1352+27_*1352+29del)
c.167+27_167+29del (n.167+27_167+29del)
c.2177+27_2177+29del (n.2177+27_2177+29del)
c.2201+27_2201+29del (n.2201+27_2201+29del)
c.2198+27_2198+29del (n.2198+27_2198+29del)
c.1166+27_1166+29del (n.1166+27_1166+29del)
c.1418+27_1418+29del (n.1418+27_1418+29del)
n.2174+27_2174+29del
n.2231+27_2231+29del
n.2194+27_2194+29del
 dbSNP gnomAD v3 gnomAD v4
15g.42730570C>TCA2628073519CDAN1c.2174+28G>A (n.2174+28G>A)
c.*1352+28G>A (n.*1352+28G>A)
c.167+28G>A (n.167+28G>A)
c.2177+28G>A (n.2177+28G>A)
c.2201+28G>A (n.2201+28G>A)
c.2198+28G>A (n.2198+28G>A)
c.1166+28G>A (n.1166+28G>A)
c.1418+28G>A (n.1418+28G>A)
n.2174+28G>A
n.2231+28G>A
n.2194+28G>A
 gnomAD v4
15g.42730571A=CA2172870062CDAN1c.2174+27T= (n.2174+27T=)
c.*1352+27T= (n.*1352+27T=)
c.167+27T= (n.167+27T=)
c.2177+27T= (n.2177+27T=)
c.2201+27T= (n.2201+27T=)
c.2198+27T= (n.2198+27T=)
c.1166+27T= (n.1166+27T=)
c.1418+27T= (n.1418+27T=)
n.2174+27T=
n.2231+27T=
n.2194+27T=
15g.42730571A>TCA969129111CDAN1c.2174+27T>A (n.2174+27T>A)
c.*1352+27T>A (n.*1352+27T>A)
c.167+27T>A (n.167+27T>A)
c.2177+27T>A (n.2177+27T>A)
c.2201+27T>A (n.2201+27T>A)
c.2198+27T>A (n.2198+27T>A)
c.1166+27T>A (n.1166+27T>A)
c.1418+27T>A (n.1418+27T>A)
n.2174+27T>A
n.2231+27T>A
n.2194+27T>A
 dbSNP gnomAD v3 gnomAD v4
15g.42730572T>CCA2628073520CDAN1c.2174+26A>G (n.2174+26A>G)
c.*1352+26A>G (n.*1352+26A>G)
c.167+26A>G (n.167+26A>G)
c.2177+26A>G (n.2177+26A>G)
c.2201+26A>G (n.2201+26A>G)
c.2198+26A>G (n.2198+26A>G)
c.1166+26A>G (n.1166+26A>G)
c.1418+26A>G (n.1418+26A>G)
n.2174+26A>G
n.2231+26A>G
n.2194+26A>G
 gnomAD v4
15g.42730573C=CA2172870063CDAN1c.2174+25G= (n.2174+25G=)
c.*1352+25G= (n.*1352+25G=)
c.167+25G= (n.167+25G=)
c.2177+25G= (n.2177+25G=)
c.2201+25G= (n.2201+25G=)
c.2198+25G= (n.2198+25G=)
c.1166+25G= (n.1166+25G=)
c.1418+25G= (n.1418+25G=)
n.2174+25G=
n.2231+25G=
n.2194+25G=
15g.42730573C>TCA7515798CDAN1c.2174+25G>A (n.2174+25G>A)
c.*1352+25G>A (n.*1352+25G>A)
c.167+25G>A (n.167+25G>A)
c.2177+25G>A (n.2177+25G>A)
c.2201+25G>A (n.2201+25G>A)
c.2198+25G>A (n.2198+25G>A)
c.1166+25G>A (n.1166+25G>A)
c.1418+25G>A (n.1418+25G>A)
n.2174+25G>A
n.2231+25G>A
n.2194+25G>A
 dbSNP ExAC gnomAD v2
15g.42730574A>CCA2628073521CDAN1c.2174+24T>G (n.2174+24T>G)
c.*1352+24T>G (n.*1352+24T>G)
c.167+24T>G (n.167+24T>G)
c.2177+24T>G (n.2177+24T>G)
c.2201+24T>G (n.2201+24T>G)
c.2198+24T>G (n.2198+24T>G)
c.1166+24T>G (n.1166+24T>G)
c.1418+24T>G (n.1418+24T>G)
n.2174+24T>G
n.2231+24T>G
n.2194+24T>G
 gnomAD v4
15g.42730575A=CA2172870064CDAN1c.2174+23T= (n.2174+23T=)
c.*1352+23T= (n.*1352+23T=)
c.167+23T= (n.167+23T=)
c.2177+23T= (n.2177+23T=)
c.2201+23T= (n.2201+23T=)
c.2198+23T= (n.2198+23T=)
c.1166+23T= (n.1166+23T=)
c.1418+23T= (n.1418+23T=)
n.2174+23T=
n.2231+23T=
n.2194+23T=
15g.42730575A>GCA7515799CDAN1c.2174+23T>C (n.2174+23T>C)
c.*1352+23T>C (n.*1352+23T>C)
c.167+23T>C (n.167+23T>C)
c.2177+23T>C (n.2177+23T>C)
c.2201+23T>C (n.2201+23T>C)
c.2198+23T>C (n.2198+23T>C)
c.1166+23T>C (n.1166+23T>C)
c.1418+23T>C (n.1418+23T>C)
n.2174+23T>C
n.2231+23T>C
n.2194+23T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730576G>ACA2628073522CDAN1c.2174+22C>T (n.2174+22C>T)
c.*1352+22C>T (n.*1352+22C>T)
c.167+22C>T (n.167+22C>T)
c.2177+22C>T (n.2177+22C>T)
c.2201+22C>T (n.2201+22C>T)
c.2198+22C>T (n.2198+22C>T)
c.1166+22C>T (n.1166+22C>T)
c.1418+22C>T (n.1418+22C>T)
n.2174+22C>T
n.2231+22C>T
n.2194+22C>T
 gnomAD v4
15g.42730576G>CCA2628073523CDAN1c.2174+22C>G (n.2174+22C>G)
c.*1352+22C>G (n.*1352+22C>G)
c.167+22C>G (n.167+22C>G)
c.2177+22C>G (n.2177+22C>G)
c.2201+22C>G (n.2201+22C>G)
c.2198+22C>G (n.2198+22C>G)
c.1166+22C>G (n.1166+22C>G)
c.1418+22C>G (n.1418+22C>G)
n.2174+22C>G
n.2231+22C>G
n.2194+22C>G
 gnomAD v4
15g.42730577C>ACA2628073525CDAN1c.2174+21G>T (n.2174+21G>T)
c.*1352+21G>T (n.*1352+21G>T)
c.167+21G>T (n.167+21G>T)
c.2177+21G>T (n.2177+21G>T)
c.2201+21G>T (n.2201+21G>T)
c.2198+21G>T (n.2198+21G>T)
c.1166+21G>T (n.1166+21G>T)
c.1418+21G>T (n.1418+21G>T)
n.2174+21G>T
n.2231+21G>T
n.2194+21G>T
 gnomAD v4
15g.42730577C=CA2172870065CDAN1c.2174+21G= (n.2174+21G=)
c.*1352+21G= (n.*1352+21G=)
c.167+21G= (n.167+21G=)
c.2177+21G= (n.2177+21G=)
c.2201+21G= (n.2201+21G=)
c.2198+21G= (n.2198+21G=)
c.1166+21G= (n.1166+21G=)
c.1418+21G= (n.1418+21G=)
n.2174+21G=
n.2231+21G=
n.2194+21G=
15g.42730577C>GCA2628073526CDAN1c.2174+21G>C (n.2174+21G>C)
c.*1352+21G>C (n.*1352+21G>C)
c.167+21G>C (n.167+21G>C)
c.2177+21G>C (n.2177+21G>C)
c.2201+21G>C (n.2201+21G>C)
c.2198+21G>C (n.2198+21G>C)
c.1166+21G>C (n.1166+21G>C)
c.1418+21G>C (n.1418+21G>C)
n.2174+21G>C
n.2231+21G>C
n.2194+21G>C
 gnomAD v4
15g.42730577C>TCA618002638CDAN1c.2174+21G>A (n.2174+21G>A)
c.*1352+21G>A (n.*1352+21G>A)
c.167+21G>A (n.167+21G>A)
c.2177+21G>A (n.2177+21G>A)
c.2201+21G>A (n.2201+21G>A)
c.2198+21G>A (n.2198+21G>A)
c.1166+21G>A (n.1166+21G>A)
c.1418+21G>A (n.1418+21G>A)
n.2174+21G>A
n.2231+21G>A
n.2194+21G>A
 dbSNP gnomAD v2 gnomAD v4
15g.42730578delCA2628073524CDAN1c.2174+21del (n.2174+21del)
c.*1352+21del (n.*1352+21del)
c.167+21del (n.167+21del)
c.2177+21del (n.2177+21del)
c.2201+21del (n.2201+21del)
c.2198+21del (n.2198+21del)
c.1166+21del (n.1166+21del)
c.1418+21del (n.1418+21del)
n.2174+21del
n.2231+21del
n.2194+21del
 gnomAD v4
15g.42730578C>ACA2581211567CDAN1c.2174+20G>T (n.2174+20G>T)
c.*1352+20G>T (n.*1352+20G>T)
c.167+20G>T (n.167+20G>T)
c.2177+20G>T (n.2177+20G>T)
c.2201+20G>T (n.2201+20G>T)
c.2198+20G>T (n.2198+20G>T)
c.1166+20G>T (n.1166+20G>T)
c.1418+20G>T (n.1418+20G>T)
n.2174+20G>T
n.2231+20G>T
n.2194+20G>T
15g.42730578C=CA2172870066CDAN1c.2174+20G= (n.2174+20G=)
c.*1352+20G= (n.*1352+20G=)
c.167+20G= (n.167+20G=)
c.2177+20G= (n.2177+20G=)
c.2201+20G= (n.2201+20G=)
c.2198+20G= (n.2198+20G=)
c.1166+20G= (n.1166+20G=)
c.1418+20G= (n.1418+20G=)
n.2174+20G=
n.2231+20G=
n.2194+20G=
15g.42730578C>GCA2581211566CDAN1c.2174+20G>C (n.2174+20G>C)
c.*1352+20G>C (n.*1352+20G>C)
c.167+20G>C (n.167+20G>C)
c.2177+20G>C (n.2177+20G>C)
c.2201+20G>C (n.2201+20G>C)
c.2198+20G>C (n.2198+20G>C)
c.1166+20G>C (n.1166+20G>C)
c.1418+20G>C (n.1418+20G>C)
n.2174+20G>C
n.2231+20G>C
n.2194+20G>C
15g.42730578C>TCA7515800CDAN1c.2174+20G>A (n.2174+20G>A)
c.*1352+20G>A (n.*1352+20G>A)
c.167+20G>A (n.167+20G>A)
c.2177+20G>A (n.2177+20G>A)
c.2201+20G>A (n.2201+20G>A)
c.2198+20G>A (n.2198+20G>A)
c.1166+20G>A (n.1166+20G>A)
c.1418+20G>A (n.1418+20G>A)
n.2174+20G>A
n.2231+20G>A
n.2194+20G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730579T>CCA2172870068CDAN1c.2174+19A>G (n.2174+19A>G)
c.*1352+19A>G (n.*1352+19A>G)
c.167+19A>G (n.167+19A>G)
c.2177+19A>G (n.2177+19A>G)
c.2201+19A>G (n.2201+19A>G)
c.2198+19A>G (n.2198+19A>G)
c.1166+19A>G (n.1166+19A>G)
c.1418+19A>G (n.1418+19A>G)
n.2174+19A>G
n.2231+19A>G
n.2194+19A>G
 dbSNP
15g.42730579T=CA2172870067CDAN1c.2174+19A= (n.2174+19A=)
c.*1352+19A= (n.*1352+19A=)
c.167+19A= (n.167+19A=)
c.2177+19A= (n.2177+19A=)
c.2201+19A= (n.2201+19A=)
c.2198+19A= (n.2198+19A=)
c.1166+19A= (n.1166+19A=)
c.1418+19A= (n.1418+19A=)
n.2174+19A=
n.2231+19A=
n.2194+19A=
15g.42730580C=CA2172870070CDAN1c.2174+18G= (n.2174+18G=)
c.*1352+18G= (n.*1352+18G=)
c.167+18G= (n.167+18G=)
c.2177+18G= (n.2177+18G=)
c.2201+18G= (n.2201+18G=)
c.2198+18G= (n.2198+18G=)
c.1166+18G= (n.1166+18G=)
c.1418+18G= (n.1418+18G=)
n.2174+18G=
n.2231+18G=
n.2194+18G=
15g.42730580C>TCA2172870069CDAN1c.2174+18G>A (n.2174+18G>A)
c.*1352+18G>A (n.*1352+18G>A)
c.167+18G>A (n.167+18G>A)
c.2177+18G>A (n.2177+18G>A)
c.2201+18G>A (n.2201+18G>A)
c.2198+18G>A (n.2198+18G>A)
c.1166+18G>A (n.1166+18G>A)
c.1418+18G>A (n.1418+18G>A)
n.2174+18G>A
n.2231+18G>A
n.2194+18G>A
 dbSNP gnomAD v4
15g.42730581A>GCA2575698490CDAN1c.2174+17T>C (n.2174+17T>C)
c.*1352+17T>C (n.*1352+17T>C)
c.167+17T>C (n.167+17T>C)
c.2177+17T>C (n.2177+17T>C)
c.2201+17T>C (n.2201+17T>C)
c.2198+17T>C (n.2198+17T>C)
c.1166+17T>C (n.1166+17T>C)
c.1418+17T>C (n.1418+17T>C)
n.2174+17T>C
n.2231+17T>C
n.2194+17T>C
15g.42730582G>ACA2628073527CDAN1c.2174+16C>T (n.2174+16C>T)
c.*1352+16C>T (n.*1352+16C>T)
c.167+16C>T (n.167+16C>T)
c.2177+16C>T (n.2177+16C>T)
c.2201+16C>T (n.2201+16C>T)
c.2198+16C>T (n.2198+16C>T)
c.1166+16C>T (n.1166+16C>T)
c.1418+16C>T (n.1418+16C>T)
n.2174+16C>T
n.2231+16C>T
n.2194+16C>T
 gnomAD v4
15g.42730582G>CCA7515801CDAN1c.2174+16C>G (n.2174+16C>G)
c.*1352+16C>G (n.*1352+16C>G)
c.167+16C>G (n.167+16C>G)
c.2177+16C>G (n.2177+16C>G)
c.2201+16C>G (n.2201+16C>G)
c.2198+16C>G (n.2198+16C>G)
c.1166+16C>G (n.1166+16C>G)
c.1418+16C>G (n.1418+16C>G)
n.2174+16C>G
n.2231+16C>G
n.2194+16C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730582G=CA2172870071CDAN1c.2174+16C= (n.2174+16C=)
c.*1352+16C= (n.*1352+16C=)
c.167+16C= (n.167+16C=)
c.2177+16C= (n.2177+16C=)
c.2201+16C= (n.2201+16C=)
c.2198+16C= (n.2198+16C=)
c.1166+16C= (n.1166+16C=)
c.1418+16C= (n.1418+16C=)
n.2174+16C=
n.2231+16C=
n.2194+16C=
15g.42730584C>ACA2628073528CDAN1c.2174+14G>T (n.2174+14G>T)
c.*1352+14G>T (n.*1352+14G>T)
c.167+14G>T (n.167+14G>T)
c.2177+14G>T (n.2177+14G>T)
c.2201+14G>T (n.2201+14G>T)
c.2198+14G>T (n.2198+14G>T)
c.1166+14G>T (n.1166+14G>T)
c.1418+14G>T (n.1418+14G>T)
n.2174+14G>T
n.2231+14G>T
n.2194+14G>T
 gnomAD v4
15g.42730584C=CA2172870072CDAN1c.2174+14G= (n.2174+14G=)
c.*1352+14G= (n.*1352+14G=)
c.167+14G= (n.167+14G=)
c.2177+14G= (n.2177+14G=)
c.2201+14G= (n.2201+14G=)
c.2198+14G= (n.2198+14G=)
c.1166+14G= (n.1166+14G=)
c.1418+14G= (n.1418+14G=)
n.2174+14G=
n.2231+14G=
n.2194+14G=
15g.42730584C>TCA7515802CDAN1c.2174+14G>A (n.2174+14G>A)
c.*1352+14G>A (n.*1352+14G>A)
c.167+14G>A (n.167+14G>A)
c.2177+14G>A (n.2177+14G>A)
c.2201+14G>A (n.2201+14G>A)
c.2198+14G>A (n.2198+14G>A)
c.1166+14G>A (n.1166+14G>A)
c.1418+14G>A (n.1418+14G>A)
n.2174+14G>A
n.2231+14G>A
n.2194+14G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730585T>CCA2628073529CDAN1c.2174+13A>G (n.2174+13A>G)
c.*1352+13A>G (n.*1352+13A>G)
c.167+13A>G (n.167+13A>G)
c.2177+13A>G (n.2177+13A>G)
c.2201+13A>G (n.2201+13A>G)
c.2198+13A>G (n.2198+13A>G)
c.1166+13A>G (n.1166+13A>G)
c.1418+13A>G (n.1418+13A>G)
n.2174+13A>G
n.2231+13A>G
n.2194+13A>G
 gnomAD v4
15g.42730586T>CCA7515803CDAN1c.2174+12A>G (n.2174+12A>G)
c.*1352+12A>G (n.*1352+12A>G)
c.167+12A>G (n.167+12A>G)
c.2177+12A>G (n.2177+12A>G)
c.2201+12A>G (n.2201+12A>G)
c.2198+12A>G (n.2198+12A>G)
c.1166+12A>G (n.1166+12A>G)
c.1418+12A>G (n.1418+12A>G)
n.2174+12A>G
n.2231+12A>G
n.2194+12A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730586T=CA2172870073CDAN1c.2174+12A= (n.2174+12A=)
c.*1352+12A= (n.*1352+12A=)
c.167+12A= (n.167+12A=)
c.2177+12A= (n.2177+12A=)
c.2201+12A= (n.2201+12A=)
c.2198+12A= (n.2198+12A=)
c.1166+12A= (n.1166+12A=)
c.1418+12A= (n.1418+12A=)
n.2174+12A=
n.2231+12A=
n.2194+12A=
15g.42730587G>ACA7515804CDAN1c.2174+11C>T (n.2174+11C>T)
c.*1352+11C>T (n.*1352+11C>T)
c.167+11C>T (n.167+11C>T)
c.2177+11C>T (n.2177+11C>T)
c.2201+11C>T (n.2201+11C>T)
c.2198+11C>T (n.2198+11C>T)
c.1166+11C>T (n.1166+11C>T)
c.1418+11C>T (n.1418+11C>T)
n.2174+11C>T
n.2231+11C>T
n.2194+11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730587G>CCA7515805CDAN1c.2174+11C>G (n.2174+11C>G)
c.*1352+11C>G (n.*1352+11C>G)
c.167+11C>G (n.167+11C>G)
c.2177+11C>G (n.2177+11C>G)
c.2201+11C>G (n.2201+11C>G)
c.2198+11C>G (n.2198+11C>G)
c.1166+11C>G (n.1166+11C>G)
c.1418+11C>G (n.1418+11C>G)
n.2174+11C>G
n.2231+11C>G
n.2194+11C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730587G=CA2172870074CDAN1c.2174+11C= (n.2174+11C=)
c.*1352+11C= (n.*1352+11C=)
c.167+11C= (n.167+11C=)
c.2177+11C= (n.2177+11C=)
c.2201+11C= (n.2201+11C=)
c.2198+11C= (n.2198+11C=)
c.1166+11C= (n.1166+11C=)
c.1418+11C= (n.1418+11C=)
n.2174+11C=
n.2231+11C=
n.2194+11C=
15g.42730591C=CA2172870075CDAN1c.2174+7G= (n.2174+7G=)
c.*1352+7G= (n.*1352+7G=)
c.167+7G= (n.167+7G=)
c.2177+7G= (n.2177+7G=)
c.2201+7G= (n.2201+7G=)
c.2198+7G= (n.2198+7G=)
c.1166+7G= (n.1166+7G=)
c.1418+7G= (n.1418+7G=)
n.2174+7G=
n.2231+7G=
n.2194+7G=
15g.42730591C>TCA269904685CDAN1c.2174+7G>A (n.2174+7G>A)
c.*1352+7G>A (n.*1352+7G>A)
c.167+7G>A (n.167+7G>A)
c.2177+7G>A (n.2177+7G>A)
c.2201+7G>A (n.2201+7G>A)
c.2198+7G>A (n.2198+7G>A)
c.1166+7G>A (n.1166+7G>A)
c.1418+7G>A (n.1418+7G>A)
n.2174+7G>A
n.2231+7G>A
n.2194+7G>A
 dbSNP
15g.42730595C>ACA2529323831CDAN1c.2174+3G>T (n.2174+3G>T)
c.*1352+3G>T (n.*1352+3G>T)
c.167+3G>T (n.167+3G>T)
c.2177+3G>T (n.2177+3G>T)
c.2201+3G>T (n.2201+3G>T)
c.2198+3G>T (n.2198+3G>T)
c.1166+3G>T (n.1166+3G>T)
c.1418+3G>T (n.1418+3G>T)
n.2174+3G>T
n.2231+3G>T
n.2194+3G>T
15g.42730596A=CA2172870076CDAN1c.2174+2T= (n.2174+2T=)
c.*1352+2T= (n.*1352+2T=)
c.167+2T= (n.167+2T=)
c.2177+2T= (n.2177+2T=)
c.2201+2T= (n.2201+2T=)
c.2198+2T= (n.2198+2T=)
c.1166+2T= (n.1166+2T=)
c.1418+2T= (n.1418+2T=)
n.2174+2T=
n.2231+2T=
n.2194+2T=
15g.42730596A>CCA7515806CDAN1c.2174+2T>G (n.2174+2T>G)
c.*1352+2T>G (n.*1352+2T>G)
c.167+2T>G (n.167+2T>G)
c.2177+2T>G (n.2177+2T>G)
c.2201+2T>G (n.2201+2T>G)
c.2198+2T>G (n.2198+2T>G)
c.1166+2T>G (n.1166+2T>G)
c.1418+2T>G (n.1418+2T>G)
n.2174+2T>G
n.2231+2T>G
n.2194+2T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730596A>GCA392041874CDAN1c.2174+2T>C (n.2174+2T>C)
c.*1352+2T>C (n.*1352+2T>C)
c.167+2T>C (n.167+2T>C)
c.2177+2T>C (n.2177+2T>C)
c.2201+2T>C (n.2201+2T>C)
c.2198+2T>C (n.2198+2T>C)
c.1166+2T>C (n.1166+2T>C)
c.1418+2T>C (n.1418+2T>C)
n.2174+2T>C
n.2231+2T>C
n.2194+2T>C
15g.42730596A>TCA392041880CDAN1c.2174+2T>A (n.2174+2T>A)
c.*1352+2T>A (n.*1352+2T>A)
c.167+2T>A (n.167+2T>A)
c.2177+2T>A (n.2177+2T>A)
c.2201+2T>A (n.2201+2T>A)
c.2198+2T>A (n.2198+2T>A)
c.1166+2T>A (n.1166+2T>A)
c.1418+2T>A (n.1418+2T>A)
n.2174+2T>A
n.2231+2T>A
n.2194+2T>A
15g.42730596dupCA2628073530CDAN1c.2174+2dup (n.2174+2dup)
c.*1352+2dup (n.*1352+2dup)
c.167+2dup (n.167+2dup)
c.2177+2dup (n.2177+2dup)
c.2201+2dup (n.2201+2dup)
c.2198+2dup (n.2198+2dup)
c.1166+2dup (n.1166+2dup)
c.1418+2dup (n.1418+2dup)
n.2174+2dup
n.2231+2dup
n.2194+2dup
 gnomAD v4
15g.42730597C>ACA392041885CDAN1c.2174+1G>T (n.2174+1G>T)
c.*1352+1G>T (n.*1352+1G>T)
c.167+1G>T (n.167+1G>T)
c.2177+1G>T (n.2177+1G>T)
c.2201+1G>T (n.2201+1G>T)
c.2198+1G>T (n.2198+1G>T)
c.1166+1G>T (n.1166+1G>T)
c.1418+1G>T (n.1418+1G>T)
n.2174+1G>T
n.2231+1G>T
n.2194+1G>T
15g.42730597C>GCA392041888CDAN1c.2174+1G>C (n.2174+1G>C)
c.*1352+1G>C (n.*1352+1G>C)
c.167+1G>C (n.167+1G>C)
c.2177+1G>C (n.2177+1G>C)
c.2201+1G>C (n.2201+1G>C)
c.2198+1G>C (n.2198+1G>C)
c.1166+1G>C (n.1166+1G>C)
c.1418+1G>C (n.1418+1G>C)
n.2174+1G>C
n.2231+1G>C
n.2194+1G>C
15g.42730597C>TCA392041894CDAN1c.2174+1G>A (n.2174+1G>A)
c.*1352+1G>A (n.*1352+1G>A)
c.167+1G>A (n.167+1G>A)
c.2177+1G>A (n.2177+1G>A)
c.2201+1G>A (n.2201+1G>A)
c.2198+1G>A (n.2198+1G>A)
c.1166+1G>A (n.1166+1G>A)
c.1418+1G>A (n.1418+1G>A)
n.2174+1G>A
n.2231+1G>A
n.2194+1G>A
15g.42730598C>ACA392041897CDAN1c.2174G>T (p.Arg725Leu)
c.*1352G>T (n.*1352G>T)
c.167G>T (p.Arg56Leu)
c.2177G>T (p.Arg726Leu)
c.2201G>T (p.Arg734Leu)
c.2198G>T (p.Arg733Leu)
c.1166G>T (p.Arg389Leu)
c.1418G>T (p.Arg473Leu)
n.2174G>T
n.2231G>T
n.2194G>T
15g.42730598C=CA2172870077CDAN1c.2174G= (p.Arg725=)
c.*1352G= (n.*1352G=)
c.167G= (p.Arg56=)
c.2177G= (p.Arg726=)
c.2201G= (p.Arg734=)
c.2198G= (p.Arg733=)
c.1166G= (p.Arg389=)
c.1418G= (p.Arg473=)
n.2174G=
n.2231G=
n.2194G=
15g.42730598C>GCA392041898CDAN1c.2174G>C (p.Arg725Pro)
c.*1352G>C (n.*1352G>C)
c.167G>C (p.Arg56Pro)
c.2177G>C (p.Arg726Pro)
c.2201G>C (p.Arg734Pro)
c.2198G>C (p.Arg733Pro)
c.1166G>C (p.Arg389Pro)
c.1418G>C (p.Arg473Pro)
n.2174G>C
n.2231G>C
n.2194G>C
 dbSNP
15g.42730598C>TCA269904702CDAN1c.2174G>A (p.Arg725Gln)
c.*1352G>A (n.*1352G>A)
c.167G>A (p.Arg56Gln)
c.2177G>A (p.Arg726Gln)
c.2201G>A (p.Arg734Gln)
c.2198G>A (p.Arg733Gln)
c.1166G>A (p.Arg389Gln)
c.1418G>A (p.Arg473Gln)
n.2174G>A
n.2231G>A
n.2194G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730599G>ACA7515807CDAN1c.2173C>T (p.Arg725Trp)
c.*1351C>T (n.*1351C>T)
c.166C>T (p.Arg56Trp)
c.2176C>T (p.Arg726Trp)
c.2200C>T (p.Arg734Trp)
c.2197C>T (p.Arg733Trp)
c.1165C>T (p.Arg389Trp)
c.1417C>T (p.Arg473Trp)
n.2173C>T
n.2230C>T
n.2193C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730599G>CCA269904703CDAN1c.2173C>G (p.Arg725Gly)
c.*1351C>G (n.*1351C>G)
c.166C>G (p.Arg56Gly)
c.2176C>G (p.Arg726Gly)
c.2200C>G (p.Arg734Gly)
c.2197C>G (p.Arg733Gly)
c.1165C>G (p.Arg389Gly)
c.1417C>G (p.Arg473Gly)
n.2173C>G
n.2230C>G
n.2193C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730599G=CA2172870078CDAN1c.2173C= (p.Arg725=)
c.*1351C= (n.*1351C=)
c.166C= (p.Arg56=)
c.2176C= (p.Arg726=)
c.2200C= (p.Arg734=)
c.2197C= (p.Arg733=)
c.1165C= (p.Arg389=)
c.1417C= (p.Arg473=)
n.2173C=
n.2230C=
n.2193C=
15g.42730599G>TCA489895169CDAN1c.2173C>A (p.Arg725=)
c.*1351C>A (n.*1351C>A)
c.166C>A (p.Arg56=)
c.2176C>A (p.Arg726=)
c.2200C>A (p.Arg734=)
c.2197C>A (p.Arg733=)
c.1165C>A (p.Arg389=)
c.1417C>A (p.Arg473=)
n.2173C>A
n.2230C>A
n.2193C>A
 gnomAD v4
15g.42730600G>ACA489895170CDAN1c.2172C>T (p.His724=)
c.*1350C>T (n.*1350C>T)
c.165C>T (p.His55=)
c.2175C>T (p.His725=)
c.2199C>T (p.His733=)
c.2196C>T (p.His732=)
c.1164C>T (p.His388=)
c.1416C>T (p.His472=)
n.2172C>T
n.2229C>T
n.2192C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42730600G>CCA392041906CDAN1c.2172C>G (p.His724Gln)
c.*1350C>G (n.*1350C>G)
c.165C>G (p.His55Gln)
c.2175C>G (p.His725Gln)
c.2199C>G (p.His733Gln)
c.2196C>G (p.His732Gln)
c.1164C>G (p.His388Gln)
c.1416C>G (p.His472Gln)
n.2172C>G
n.2229C>G
n.2192C>G
15g.42730600G=CA2172870079CDAN1c.2172C= (p.His724=)
c.*1350C= (n.*1350C=)
c.165C= (p.His55=)
c.2175C= (p.His725=)
c.2199C= (p.His733=)
c.2196C= (p.His732=)
c.1164C= (p.His388=)
c.1416C= (p.His472=)
n.2172C=
n.2229C=
n.2192C=
15g.42730600G>TCA392041907CDAN1c.2172C>A (p.His724Gln)
c.*1350C>A (n.*1350C>A)
c.165C>A (p.His55Gln)
c.2175C>A (p.His725Gln)
c.2199C>A (p.His733Gln)
c.2196C>A (p.His732Gln)
c.1164C>A (p.His388Gln)
c.1416C>A (p.His472Gln)
n.2172C>A
n.2229C>A
n.2192C>A
15g.42730601T>ACA392041913CDAN1c.2171A>T (p.His724Leu)
c.*1349A>T (n.*1349A>T)
c.164A>T (p.His55Leu)
c.2174A>T (p.His725Leu)
c.2198A>T (p.His733Leu)
c.2195A>T (p.His732Leu)
c.1163A>T (p.His388Leu)
c.1415A>T (p.His472Leu)
n.2171A>T
n.2228A>T
n.2191A>T
15g.42730601T>CCA392041914CDAN1c.2171A>G (p.His724Arg)
c.*1349A>G (n.*1349A>G)
c.164A>G (p.His55Arg)
c.2174A>G (p.His725Arg)
c.2198A>G (p.His733Arg)
c.2195A>G (p.His732Arg)
c.1163A>G (p.His388Arg)
c.1415A>G (p.His472Arg)
n.2171A>G
n.2228A>G
n.2191A>G
15g.42730601T>GCA392041915CDAN1c.2171A>C (p.His724Pro)
c.*1349A>C (n.*1349A>C)
c.164A>C (p.His55Pro)
c.2174A>C (p.His725Pro)
c.2198A>C (p.His733Pro)
c.2195A>C (p.His732Pro)
c.1163A>C (p.His388Pro)
c.1415A>C (p.His472Pro)
n.2171A>C
n.2228A>C
n.2191A>C
15g.42730602G>ACA392041916CDAN1c.2170C>T (p.His724Tyr)
c.*1348C>T (n.*1348C>T)
c.163C>T (p.His55Tyr)
c.2173C>T (p.His725Tyr)
c.2197C>T (p.His733Tyr)
c.2194C>T (p.His732Tyr)
c.1162C>T (p.His388Tyr)
c.1414C>T (p.His472Tyr)
n.2170C>T
n.2227C>T
n.2190C>T
 dbSNP gnomAD v3 gnomAD v4
15g.42730602G>CCA392041919CDAN1c.2170C>G (p.His724Asp)
c.*1348C>G (n.*1348C>G)
c.163C>G (p.His55Asp)
c.2173C>G (p.His725Asp)
c.2197C>G (p.His733Asp)
c.2194C>G (p.His732Asp)
c.1162C>G (p.His388Asp)
c.1414C>G (p.His472Asp)
n.2170C>G
n.2227C>G
n.2190C>G
15g.42730602G=CA2172870080CDAN1c.2170C= (p.His724=)
c.*1348C= (n.*1348C=)
c.163C= (p.His55=)
c.2173C= (p.His725=)
c.2197C= (p.His733=)
c.2194C= (p.His732=)
c.1162C= (p.His388=)
c.1414C= (p.His472=)
n.2170C=
n.2227C=
n.2190C=
15g.42730602G>TCA392041924CDAN1c.2170C>A (p.His724Asn)
c.*1348C>A (n.*1348C>A)
c.163C>A (p.His55Asn)
c.2173C>A (p.His725Asn)
c.2197C>A (p.His733Asn)
c.2194C>A (p.His732Asn)
c.1162C>A (p.His388Asn)
c.1414C>A (p.His472Asn)
n.2170C>A
n.2227C>A
n.2190C>A
15g.42730603C>ACA489895171CDAN1c.2169G>T (p.Leu723=)
c.*1347G>T (n.*1347G>T)
c.162G>T (p.Leu54=)
c.2172G>T (p.Leu724=)
c.2196G>T (p.Leu732=)
c.2193G>T (p.Leu731=)
c.1161G>T (p.Leu387=)
c.1413G>T (p.Leu471=)
n.2169G>T
n.2226G>T
n.2189G>T
15g.42730603C>GCA489895173CDAN1c.2169G>C (p.Leu723=)
c.*1347G>C (n.*1347G>C)
c.162G>C (p.Leu54=)
c.2172G>C (p.Leu724=)
c.2196G>C (p.Leu732=)
c.2193G>C (p.Leu731=)
c.1161G>C (p.Leu387=)
c.1413G>C (p.Leu471=)
n.2169G>C
n.2226G>C
n.2189G>C
15g.42730603C>TCA489895172CDAN1c.2169G>A (p.Leu723=)
c.*1347G>A (n.*1347G>A)
c.162G>A (p.Leu54=)
c.2172G>A (p.Leu724=)
c.2196G>A (p.Leu732=)
c.2193G>A (p.Leu731=)
c.1161G>A (p.Leu387=)
c.1413G>A (p.Leu471=)
n.2169G>A
n.2226G>A
n.2189G>A
 dbSNP gnomAD v4
15g.42730604A>CCA392041928CDAN1c.2168T>G (p.Leu723Arg)
c.*1346T>G (n.*1346T>G)
c.161T>G (p.Leu54Arg)
c.2171T>G (p.Leu724Arg)
c.2195T>G (p.Leu732Arg)
c.2192T>G (p.Leu731Arg)
c.1160T>G (p.Leu387Arg)
c.1412T>G (p.Leu471Arg)
n.2168T>G
n.2225T>G
n.2188T>G
15g.42730604A>GCA392041932CDAN1c.2168T>C (p.Leu723Pro)
c.*1346T>C (n.*1346T>C)
c.161T>C (p.Leu54Pro)
c.2171T>C (p.Leu724Pro)
c.2195T>C (p.Leu732Pro)
c.2192T>C (p.Leu731Pro)
c.1160T>C (p.Leu387Pro)
c.1412T>C (p.Leu471Pro)
n.2168T>C
n.2225T>C
n.2188T>C
15g.42730604A>TCA392041935CDAN1c.2168T>A (p.Leu723Gln)
c.*1346T>A (n.*1346T>A)
c.161T>A (p.Leu54Gln)
c.2171T>A (p.Leu724Gln)
c.2195T>A (p.Leu732Gln)
c.2192T>A (p.Leu731Gln)
c.1160T>A (p.Leu387Gln)
c.1412T>A (p.Leu471Gln)
n.2168T>A
n.2225T>A
n.2188T>A
15g.42730605G>ACA489895174CDAN1c.2167C>T (p.Leu723=)
c.*1345C>T (n.*1345C>T)
c.160C>T (p.Leu54=)
c.2170C>T (p.Leu724=)
c.2194C>T (p.Leu732=)
c.2191C>T (p.Leu731=)
c.1159C>T (p.Leu387=)
c.1411C>T (p.Leu471=)
n.2167C>T
n.2224C>T
n.2187C>T
15g.42730605G>CCA392041943CDAN1c.2167C>G (p.Leu723Val)
c.*1345C>G (n.*1345C>G)
c.160C>G (p.Leu54Val)
c.2170C>G (p.Leu724Val)
c.2194C>G (p.Leu732Val)
c.2191C>G (p.Leu731Val)
c.1159C>G (p.Leu387Val)
c.1411C>G (p.Leu471Val)
n.2167C>G
n.2224C>G
n.2187C>G
15g.42730605G>TCA392041940CDAN1c.2167C>A (p.Leu723Met)
c.*1345C>A (n.*1345C>A)
c.160C>A (p.Leu54Met)
c.2170C>A (p.Leu724Met)
c.2194C>A (p.Leu732Met)
c.2191C>A (p.Leu731Met)
c.1159C>A (p.Leu387Met)
c.1411C>A (p.Leu471Met)
n.2167C>A
n.2224C>A
n.2187C>A
15g.42730606G>ACA489895175CDAN1c.2166C>T (p.Arg722=)
c.*1344C>T (n.*1344C>T)
c.159C>T (p.Arg53=)
c.2169C>T (p.Arg723=)
c.2193C>T (p.Arg731=)
c.2190C>T (p.Arg730=)
c.1158C>T (p.Arg386=)
c.1410C>T (p.Arg470=)
n.2166C>T
n.2223C>T
n.2186C>T
15g.42730606G>CCA489895176CDAN1c.2166C>G (p.Arg722=)
c.*1344C>G (n.*1344C>G)
c.159C>G (p.Arg53=)
c.2169C>G (p.Arg723=)
c.2193C>G (p.Arg731=)
c.2190C>G (p.Arg730=)
c.1158C>G (p.Arg386=)
c.1410C>G (p.Arg470=)
n.2166C>G
n.2223C>G
n.2186C>G
 gnomAD v4
15g.42730606G>TCA489895177CDAN1c.2166C>A (p.Arg722=)
c.*1344C>A (n.*1344C>A)
c.159C>A (p.Arg53=)
c.2169C>A (p.Arg723=)
c.2193C>A (p.Arg731=)
c.2190C>A (p.Arg730=)
c.1158C>A (p.Arg386=)
c.1410C>A (p.Arg470=)
n.2166C>A
n.2223C>A
n.2186C>A
15g.42730607C>ACA392041947CDAN1c.2165G>T (p.Arg722Leu)
c.*1343G>T (n.*1343G>T)
c.158G>T (p.Arg53Leu)
c.2168G>T (p.Arg723Leu)
c.2192G>T (p.Arg731Leu)
c.2189G>T (p.Arg730Leu)
c.1157G>T (p.Arg386Leu)
c.1409G>T (p.Arg470Leu)
n.2165G>T
n.2222G>T
n.2185G>T
15g.42730607C=CA2172870081CDAN1c.2165G= (p.Arg722=)
c.*1343G= (n.*1343G=)
c.158G= (p.Arg53=)
c.2168G= (p.Arg723=)
c.2192G= (p.Arg731=)
c.2189G= (p.Arg730=)
c.1157G= (p.Arg386=)
c.1409G= (p.Arg470=)
n.2165G=
n.2222G=
n.2185G=
15g.42730607C>GCA392041950CDAN1c.2165G>C (p.Arg722Pro)
c.*1343G>C (n.*1343G>C)
c.158G>C (p.Arg53Pro)
c.2168G>C (p.Arg723Pro)
c.2192G>C (p.Arg731Pro)
c.2189G>C (p.Arg730Pro)
c.1157G>C (p.Arg386Pro)
c.1409G>C (p.Arg470Pro)
n.2165G>C
n.2222G>C
n.2185G>C
15g.42730607C>TCA7515808CDAN1c.2165G>A (p.Arg722His)
c.*1343G>A (n.*1343G>A)
c.158G>A (p.Arg53His)
c.2168G>A (p.Arg723His)
c.2192G>A (p.Arg731His)
c.2189G>A (p.Arg730His)
c.1157G>A (p.Arg386His)
c.1409G>A (p.Arg470His)
n.2165G>A
n.2222G>A
n.2185G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730608G>ACA7515809CDAN1c.2164C>T (p.Arg722Cys)
c.*1342C>T (n.*1342C>T)
c.157C>T (p.Arg53Cys)
c.2167C>T (p.Arg723Cys)
c.2191C>T (p.Arg731Cys)
c.2188C>T (p.Arg730Cys)
c.1156C>T (p.Arg386Cys)
c.1408C>T (p.Arg470Cys)
n.2164C>T
n.2221C>T
n.2184C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42730608G>CCA392041956CDAN1c.2164C>G (p.Arg722Gly)
c.*1342C>G (n.*1342C>G)
c.157C>G (p.Arg53Gly)
c.2167C>G (p.Arg723Gly)
c.2191C>G (p.Arg731Gly)
c.2188C>G (p.Arg730Gly)
c.1156C>G (p.Arg386Gly)
c.1408C>G (p.Arg470Gly)
n.2164C>G
n.2221C>G
n.2184C>G
15g.42730608G=CA2172870082CDAN1c.2164C= (p.Arg722=)
c.*1342C= (n.*1342C=)
c.157C= (p.Arg53=)
c.2167C= (p.Arg723=)
c.2191C= (p.Arg731=)
c.2188C= (p.Arg730=)
c.1156C= (p.Arg386=)
c.1408C= (p.Arg470=)
n.2164C=
n.2221C=
n.2184C=
15g.42730608G>TCA392041957CDAN1c.2164C>A (p.Arg722Ser)
c.*1342C>A (n.*1342C>A)
c.157C>A (p.Arg53Ser)
c.2167C>A (p.Arg723Ser)
c.2191C>A (p.Arg731Ser)
c.2188C>A (p.Arg730Ser)
c.1156C>A (p.Arg386Ser)
c.1408C>A (p.Arg470Ser)
n.2164C>A
n.2221C>A
n.2184C>A
15g.42730612_42730614delCA2803923153CDAN1c.2162_2164del (p.Leu721del)
c.*1340_*1342del (n.*1340_*1342del)
c.155_157del (p.Leu52del)
c.2165_2167del (p.Leu722del)
c.2189_2191del (p.Leu730del)
c.2186_2188del (p.Leu729del)
c.1154_1156del (p.Leu385del)
c.1406_1408del (p.Leu469del)
n.2162_2164del
n.2219_2221del
n.2182_2184del
15g.42730609C>ACA489895178CDAN1c.2163G>T (p.Leu721=)
c.*1341G>T (n.*1341G>T)
c.156G>T (p.Leu52=)
c.2166G>T (p.Leu722=)
c.2190G>T (p.Leu730=)
c.2187G>T (p.Leu729=)
c.1155G>T (p.Leu385=)
c.1407G>T (p.Leu469=)
n.2163G>T
n.2220G>T
n.2183G>T
15g.42730609C=CA2172870083CDAN1c.2163G= (p.Leu721=)
c.*1341G= (n.*1341G=)
c.156G= (p.Leu52=)
c.2166G= (p.Leu722=)
c.2190G= (p.Leu730=)
c.2187G= (p.Leu729=)
c.1155G= (p.Leu385=)
c.1407G= (p.Leu469=)
n.2163G=
n.2220G=
n.2183G=
15g.42730609C>GCA489895179CDAN1c.2163G>C (p.Leu721=)
c.*1341G>C (n.*1341G>C)
c.156G>C (p.Leu52=)
c.2166G>C (p.Leu722=)
c.2190G>C (p.Leu730=)
c.2187G>C (p.Leu729=)
c.1155G>C (p.Leu385=)
c.1407G>C (p.Leu469=)
n.2163G>C
n.2220G>C
n.2183G>C
15g.42730609C>TCA489895180CDAN1c.2163G>A (p.Leu721=)
c.*1341G>A (n.*1341G>A)
c.156G>A (p.Leu52=)
c.2166G>A (p.Leu722=)
c.2190G>A (p.Leu730=)
c.2187G>A (p.Leu729=)
c.1155G>A (p.Leu385=)
c.1407G>A (p.Leu469=)
n.2163G>A
n.2220G>A
n.2183G>A
 dbSNP
15g.42730610A>CCA392041972CDAN1c.2162T>G (p.Leu721Arg)
c.*1340T>G (n.*1340T>G)
c.155T>G (p.Leu52Arg)
c.2165T>G (p.Leu722Arg)
c.2189T>G (p.Leu730Arg)
c.2186T>G (p.Leu729Arg)
c.1154T>G (p.Leu385Arg)
c.1406T>G (p.Leu469Arg)
n.2162T>G
n.2219T>G
n.2182T>G
 gnomAD v4
15g.42730610A>GCA392041958CDAN1c.2162T>C (p.Leu721Pro)
c.*1340T>C (n.*1340T>C)
c.155T>C (p.Leu52Pro)
c.2165T>C (p.Leu722Pro)
c.2189T>C (p.Leu730Pro)
c.2186T>C (p.Leu729Pro)
c.1154T>C (p.Leu385Pro)
c.1406T>C (p.Leu469Pro)
n.2162T>C
n.2219T>C
n.2182T>C
15g.42730610A>TCA392041967CDAN1c.2162T>A (p.Leu721Gln)
c.*1340T>A (n.*1340T>A)
c.155T>A (p.Leu52Gln)
c.2165T>A (p.Leu722Gln)
c.2189T>A (p.Leu730Gln)
c.2186T>A (p.Leu729Gln)
c.1154T>A (p.Leu385Gln)
c.1406T>A (p.Leu469Gln)
n.2162T>A
n.2219T>A
n.2182T>A
 dbSNP
15g.42730611G>ACA489895181CDAN1c.2161C>T (p.Leu721=)
c.*1339C>T (n.*1339C>T)
c.154C>T (p.Leu52=)
c.2164C>T (p.Leu722=)
c.2188C>T (p.Leu730=)
c.2185C>T (p.Leu729=)
c.1153C>T (p.Leu385=)
c.1405C>T (p.Leu469=)
n.2161C>T
n.2218C>T
n.2181C>T
15g.42730611G>CCA392041974CDAN1c.2161C>G (p.Leu721Val)
c.*1339C>G (n.*1339C>G)
c.154C>G (p.Leu52Val)
c.2164C>G (p.Leu722Val)
c.2188C>G (p.Leu730Val)
c.2185C>G (p.Leu729Val)
c.1153C>G (p.Leu385Val)
c.1405C>G (p.Leu469Val)
n.2161C>G
n.2218C>G
n.2181C>G
15g.42730611G>TCA392041978CDAN1c.2161C>A (p.Leu721Met)
c.*1339C>A (n.*1339C>A)
c.154C>A (p.Leu52Met)
c.2164C>A (p.Leu722Met)
c.2188C>A (p.Leu730Met)
c.2185C>A (p.Leu729Met)
c.1153C>A (p.Leu385Met)
c.1405C>A (p.Leu469Met)
n.2161C>A
n.2218C>A
n.2181C>A
15g.42730612C>ACA489895182CDAN1c.2160G>T (p.Leu720=)
c.*1338G>T (n.*1338G>T)
c.153G>T (p.Leu51=)
c.2163G>T (p.Leu721=)
c.2187G>T (p.Leu729=)
c.2184G>T (p.Leu728=)
c.1152G>T (p.Leu384=)
c.1404G>T (p.Leu468=)
n.2160G>T
n.2217G>T
n.2180G>T
 dbSNP gnomAD v2 gnomAD v4
15g.42730612C=CA2172870084CDAN1c.2160G= (p.Leu720=)
c.*1338G= (n.*1338G=)
c.153G= (p.Leu51=)
c.2163G= (p.Leu721=)
c.2187G= (p.Leu729=)
c.2184G= (p.Leu728=)
c.1152G= (p.Leu384=)
c.1404G= (p.Leu468=)
n.2160G=
n.2217G=
n.2180G=
15g.42730612C>GCA489895183CDAN1c.2160G>C (p.Leu720=)
c.*1338G>C (n.*1338G>C)
c.153G>C (p.Leu51=)
c.2163G>C (p.Leu721=)
c.2187G>C (p.Leu729=)
c.2184G>C (p.Leu728=)
c.1152G>C (p.Leu384=)
c.1404G>C (p.Leu468=)
n.2160G>C
n.2217G>C
n.2180G>C
 gnomAD v4
15g.42730612C>TCA489895184CDAN1c.2160G>A (p.Leu720=)
c.*1338G>A (n.*1338G>A)
c.153G>A (p.Leu51=)
c.2163G>A (p.Leu721=)
c.2187G>A (p.Leu729=)
c.2184G>A (p.Leu728=)
c.1152G>A (p.Leu384=)
c.1404G>A (p.Leu468=)
n.2160G>A
n.2217G>A
n.2180G>A
 dbSNP
15g.42730613A>CCA392041980CDAN1c.2159T>G (p.Leu720Arg)
c.*1337T>G (n.*1337T>G)
c.152T>G (p.Leu51Arg)
c.2162T>G (p.Leu721Arg)
c.2186T>G (p.Leu729Arg)
c.2183T>G (p.Leu728Arg)
c.1151T>G (p.Leu384Arg)
c.1403T>G (p.Leu468Arg)
n.2159T>G
n.2216T>G
n.2179T>G
15g.42730613A>GCA392041982CDAN1c.2159T>C (p.Leu720Pro)
c.*1337T>C (n.*1337T>C)
c.152T>C (p.Leu51Pro)
c.2162T>C (p.Leu721Pro)
c.2186T>C (p.Leu729Pro)
c.2183T>C (p.Leu728Pro)
c.1151T>C (p.Leu384Pro)
c.1403T>C (p.Leu468Pro)
n.2159T>C
n.2216T>C
n.2179T>C
 COSMIC
15g.42730613A>TCA392041984CDAN1c.2159T>A (p.Leu720Gln)
c.*1337T>A (n.*1337T>A)
c.152T>A (p.Leu51Gln)
c.2162T>A (p.Leu721Gln)
c.2186T>A (p.Leu729Gln)
c.2183T>A (p.Leu728Gln)
c.1151T>A (p.Leu384Gln)
c.1403T>A (p.Leu468Gln)
n.2159T>A
n.2216T>A
n.2179T>A
15g.42730614G>ACA7515811CDAN1c.2158C>T (p.Leu720=)
c.*1336C>T (n.*1336C>T)
c.151C>T (p.Leu51=)
c.2161C>T (p.Leu721=)
c.2185C>T (p.Leu729=)
c.2182C>T (p.Leu728=)
c.1150C>T (p.Leu384=)
c.1402C>T (p.Leu468=)
n.2158C>T
n.2215C>T
n.2178C>T
 dbSNP ExAC gnomAD v2
15g.42730614G>CCA392041988CDAN1c.2158C>G (p.Leu720Val)
c.*1336C>G (n.*1336C>G)
c.151C>G (p.Leu51Val)
c.2161C>G (p.Leu721Val)
c.2185C>G (p.Leu729Val)
c.2182C>G (p.Leu728Val)
c.1150C>G (p.Leu384Val)
c.1402C>G (p.Leu468Val)
n.2158C>G
n.2215C>G
n.2178C>G
15g.42730614G=CA2172870086CDAN1c.2158C= (p.Leu720=)
c.*1336C= (n.*1336C=)
c.151C= (p.Leu51=)
c.2161C= (p.Leu721=)
c.2185C= (p.Leu729=)
c.2182C= (p.Leu728=)
c.1150C= (p.Leu384=)
c.1402C= (p.Leu468=)
n.2158C=
n.2215C=
n.2178C=
15g.42730614G>TCA392041990CDAN1c.2158C>A (p.Leu720Met)
c.*1336C>A (n.*1336C>A)
c.151C>A (p.Leu51Met)
c.2161C>A (p.Leu721Met)
c.2185C>A (p.Leu729Met)
c.2182C>A (p.Leu728Met)
c.1150C>A (p.Leu384Met)
c.1402C>A (p.Leu468Met)
n.2158C>A
n.2215C>A
n.2178C>A
15g.42730614_42730616delinsGGACA2172870085CDAN1c.2156_2158delinsTCC (p.Leu719=)
c.*1334_*1336delinsTCC (n.*1334_*1336delinsTCC)
c.149_151delinsTCC (p.Leu50=)
c.2159_2161delinsTCC (p.Leu720=)
c.2183_2185delinsTCC (p.Leu728=)
c.2180_2182delinsTCC (p.Leu727=)
c.1148_1150delinsTCC (p.Leu383=)
c.1400_1402delinsTCC (p.Leu467=)
n.2156_2158delinsTCC
n.2213_2215delinsTCC
n.2176_2178delinsTCC
15g.42730615G>ACA489895185CDAN1c.2157C>T (p.Leu719=)
c.*1335C>T (n.*1335C>T)
c.150C>T (p.Leu50=)
c.2160C>T (p.Leu720=)
c.2184C>T (p.Leu728=)
c.2181C>T (p.Leu727=)
c.1149C>T (p.Leu383=)
c.1401C>T (p.Leu467=)
n.2157C>T
n.2214C>T
n.2177C>T
15g.42730615G>CCA489895186CDAN1c.2157C>G (p.Leu719=)
c.*1335C>G (n.*1335C>G)
c.150C>G (p.Leu50=)
c.2160C>G (p.Leu720=)
c.2184C>G (p.Leu728=)
c.2181C>G (p.Leu727=)
c.1149C>G (p.Leu383=)
c.1401C>G (p.Leu467=)
n.2157C>G
n.2214C>G
n.2177C>G
 dbSNP gnomAD v3 gnomAD v4
15g.42730615G=CA2172870087CDAN1c.2157C= (p.Leu719=)
c.*1335C= (n.*1335C=)
c.150C= (p.Leu50=)
c.2160C= (p.Leu720=)
c.2184C= (p.Leu728=)
c.2181C= (p.Leu727=)
c.1149C= (p.Leu383=)
c.1401C= (p.Leu467=)
n.2157C=
n.2214C=
n.2177C=
15g.42730615G>TCA489895187CDAN1c.2157C>A (p.Leu719=)
c.*1335C>A (n.*1335C>A)
c.150C>A (p.Leu50=)
c.2160C>A (p.Leu720=)
c.2184C>A (p.Leu728=)
c.2181C>A (p.Leu727=)
c.1149C>A (p.Leu383=)
c.1401C>A (p.Leu467=)
n.2157C>A
n.2214C>A
n.2177C>A
 gnomAD v4
15g.42730618_42730619delCA7515810CDAN1c.2156_2157del (p.Leu719ProfsTer15)
c.*1334_*1335del (n.*1334_*1335del)
c.149_150del (p.Leu50ProfsTer15)
c.2159_2160del (p.Leu720ProfsTer15)
c.2183_2184del (p.Leu728ProfsTer15)
c.2180_2181del (p.Leu727ProfsTer15)
c.1148_1149del (p.Leu383ProfsTer15)
c.1400_1401del (p.Leu467ProfsTer15)
n.2156_2157del
n.2213_2214del
n.2176_2177del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730616A>CCA392042015CDAN1c.2156T>G (p.Leu719Arg)
c.*1334T>G (n.*1334T>G)
c.149T>G (p.Leu50Arg)
c.2159T>G (p.Leu720Arg)
c.2183T>G (p.Leu728Arg)
c.2180T>G (p.Leu727Arg)
c.1148T>G (p.Leu383Arg)
c.1400T>G (p.Leu467Arg)
n.2156T>G
n.2213T>G
n.2176T>G
15g.42730616A>GCA392041992CDAN1c.2156T>C (p.Leu719Pro)
c.*1334T>C (n.*1334T>C)
c.149T>C (p.Leu50Pro)
c.2159T>C (p.Leu720Pro)
c.2183T>C (p.Leu728Pro)
c.2180T>C (p.Leu727Pro)
c.1148T>C (p.Leu383Pro)
c.1400T>C (p.Leu467Pro)
n.2156T>C
n.2213T>C
n.2176T>C
15g.42730616A>TCA392042012CDAN1c.2156T>A (p.Leu719His)
c.*1334T>A (n.*1334T>A)
c.149T>A (p.Leu50His)
c.2159T>A (p.Leu720His)
c.2183T>A (p.Leu728His)
c.2180T>A (p.Leu727His)
c.1148T>A (p.Leu383His)
c.1400T>A (p.Leu467His)
n.2156T>A
n.2213T>A
n.2176T>A
15g.42730616dupCA2628073539CDAN1c.2156dup (p.Leu720ProfsTer15)
c.*1334dup (n.*1334dup)
c.149dup (p.Leu51ProfsTer15)
c.2159dup (p.Leu721ProfsTer15)
c.2183dup (p.Leu729ProfsTer15)
c.2180dup (p.Leu728ProfsTer15)
c.1148dup (p.Leu384ProfsTer15)
c.1400dup (p.Leu468ProfsTer15)
n.2156dup
n.2213dup
n.2176dup
 gnomAD v4
15g.42730617G>ACA392042018CDAN1c.2155C>T (p.Leu719Phe)
c.*1333C>T (n.*1333C>T)
c.148C>T (p.Leu50Phe)
c.2158C>T (p.Leu720Phe)
c.2182C>T (p.Leu728Phe)
c.2179C>T (p.Leu727Phe)
c.1147C>T (p.Leu383Phe)
c.1399C>T (p.Leu467Phe)
n.2155C>T
n.2212C>T
n.2175C>T
15g.42730617G>CCA392042024CDAN1c.2155C>G (p.Leu719Val)
c.*1333C>G (n.*1333C>G)
c.148C>G (p.Leu50Val)
c.2158C>G (p.Leu720Val)
c.2182C>G (p.Leu728Val)
c.2179C>G (p.Leu727Val)
c.1147C>G (p.Leu383Val)
c.1399C>G (p.Leu467Val)
n.2155C>G
n.2212C>G
n.2175C>G
 gnomAD v4
15g.42730617G=CA2172870088CDAN1c.2155C= (p.Leu719=)
c.*1333C= (n.*1333C=)
c.148C= (p.Leu50=)
c.2158C= (p.Leu720=)
c.2182C= (p.Leu728=)
c.2179C= (p.Leu727=)
c.1147C= (p.Leu383=)
c.1399C= (p.Leu467=)
n.2155C=
n.2212C=
n.2175C=
15g.42730617G>TCA7515812CDAN1c.2155C>A (p.Leu719Ile)
c.*1333C>A (n.*1333C>A)
c.148C>A (p.Leu50Ile)
c.2158C>A (p.Leu720Ile)
c.2182C>A (p.Leu728Ile)
c.2179C>A (p.Leu727Ile)
c.1147C>A (p.Leu383Ile)
c.1399C>A (p.Leu467Ile)
n.2155C>A
n.2212C>A
n.2175C>A
 dbSNP ExAC gnomAD v2
15g.42730618A=CA2172870089CDAN1c.2154T= (p.Thr718=)
c.*1332T= (n.*1332T=)
c.147T= (p.Thr49=)
c.2157T= (p.Thr719=)
c.2181T= (p.Thr727=)
c.2178T= (p.Thr726=)
c.1146T= (p.Thr382=)
c.1398T= (p.Thr466=)
n.2154T=
n.2211T=
n.2174T=
15g.42730618A>CCA489895189CDAN1c.2154T>G (p.Thr718=)
c.*1332T>G (n.*1332T>G)
c.147T>G (p.Thr49=)
c.2157T>G (p.Thr719=)
c.2181T>G (p.Thr727=)
c.2178T>G (p.Thr726=)
c.1146T>G (p.Thr382=)
c.1398T>G (p.Thr466=)
n.2154T>G
n.2211T>G
n.2174T>G
15g.42730618A>GCA269904713CDAN1c.2154T>C (p.Thr718=)
c.*1332T>C (n.*1332T>C)
c.147T>C (p.Thr49=)
c.2157T>C (p.Thr719=)
c.2181T>C (p.Thr727=)
c.2178T>C (p.Thr726=)
c.1146T>C (p.Thr382=)
c.1398T>C (p.Thr466=)
n.2154T>C
n.2211T>C
n.2174T>C
 dbSNP
15g.42730618A>TCA489895188CDAN1c.2154T>A (p.Thr718=)
c.*1332T>A (n.*1332T>A)
c.147T>A (p.Thr49=)
c.2157T>A (p.Thr719=)
c.2181T>A (p.Thr727=)
c.2178T>A (p.Thr726=)
c.1146T>A (p.Thr382=)
c.1398T>A (p.Thr466=)
n.2154T>A
n.2211T>A
n.2174T>A
15g.42730619G>ACA392042031CDAN1c.2153C>T (p.Thr718Ile)
c.*1331C>T (n.*1331C>T)
c.146C>T (p.Thr49Ile)
c.2156C>T (p.Thr719Ile)
c.2180C>T (p.Thr727Ile)
c.2177C>T (p.Thr726Ile)
c.1145C>T (p.Thr382Ile)
c.1397C>T (p.Thr466Ile)
n.2153C>T
n.2210C>T
n.2173C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730619G>CCA392042033CDAN1c.2153C>G (p.Thr718Ser)
c.*1331C>G (n.*1331C>G)
c.146C>G (p.Thr49Ser)
c.2156C>G (p.Thr719Ser)
c.2180C>G (p.Thr727Ser)
c.2177C>G (p.Thr726Ser)
c.1145C>G (p.Thr382Ser)
c.1397C>G (p.Thr466Ser)
n.2153C>G
n.2210C>G
n.2173C>G
 gnomAD v4
15g.42730619G=CA2172870090CDAN1c.2153C= (p.Thr718=)
c.*1331C= (n.*1331C=)
c.146C= (p.Thr49=)
c.2156C= (p.Thr719=)
c.2180C= (p.Thr727=)
c.2177C= (p.Thr726=)
c.1145C= (p.Thr382=)
c.1397C= (p.Thr466=)
n.2153C=
n.2210C=
n.2173C=
15g.42730619G>TCA392042037CDAN1c.2153C>A (p.Thr718Asn)
c.*1331C>A (n.*1331C>A)
c.146C>A (p.Thr49Asn)
c.2156C>A (p.Thr719Asn)
c.2180C>A (p.Thr727Asn)
c.2177C>A (p.Thr726Asn)
c.1145C>A (p.Thr382Asn)
c.1397C>A (p.Thr466Asn)
n.2153C>A
n.2210C>A
n.2173C>A
 gnomAD v4
15g.42730620T>ACA392042042CDAN1c.2152A>T (p.Thr718Ser)
c.*1330A>T (n.*1330A>T)
c.145A>T (p.Thr49Ser)
c.2155A>T (p.Thr719Ser)
c.2179A>T (p.Thr727Ser)
c.2176A>T (p.Thr726Ser)
c.1144A>T (p.Thr382Ser)
c.1396A>T (p.Thr466Ser)
n.2152A>T
n.2209A>T
n.2172A>T
 gnomAD v4
15g.42730620T>CCA392042047CDAN1c.2152A>G (p.Thr718Ala)
c.*1330A>G (n.*1330A>G)
c.145A>G (p.Thr49Ala)
c.2155A>G (p.Thr719Ala)
c.2179A>G (p.Thr727Ala)
c.2176A>G (p.Thr726Ala)
c.1144A>G (p.Thr382Ala)
c.1396A>G (p.Thr466Ala)
n.2152A>G
n.2209A>G
n.2172A>G
 COSMIC
15g.42730620T>GCA392042056CDAN1c.2152A>C (p.Thr718Pro)
c.*1330A>C (n.*1330A>C)
c.145A>C (p.Thr49Pro)
c.2155A>C (p.Thr719Pro)
c.2179A>C (p.Thr727Pro)
c.2176A>C (p.Thr726Pro)
c.1144A>C (p.Thr382Pro)
c.1396A>C (p.Thr466Pro)
n.2152A>C
n.2209A>C
n.2172A>C
 gnomAD v4
15g.42730621G>ACA489895190CDAN1c.2151C>T (p.Phe717=)
c.*1329C>T (n.*1329C>T)
c.144C>T (p.Phe48=)
c.2154C>T (p.Phe718=)
c.2178C>T (p.Phe726=)
c.2175C>T (p.Phe725=)
c.1143C>T (p.Phe381=)
c.1395C>T (p.Phe465=)
n.2151C>T
n.2208C>T
n.2171C>T
 gnomAD v4
15g.42730621G>CCA392042060CDAN1c.2151C>G (p.Phe717Leu)
c.*1329C>G (n.*1329C>G)
c.144C>G (p.Phe48Leu)
c.2154C>G (p.Phe718Leu)
c.2178C>G (p.Phe726Leu)
c.2175C>G (p.Phe725Leu)
c.1143C>G (p.Phe381Leu)
c.1395C>G (p.Phe465Leu)
n.2151C>G
n.2208C>G
n.2171C>G
15g.42730621G=CA2172870091CDAN1c.2151C= (p.Phe717=)
c.*1329C= (n.*1329C=)
c.144C= (p.Phe48=)
c.2154C= (p.Phe718=)
c.2178C= (p.Phe726=)
c.2175C= (p.Phe725=)
c.1143C= (p.Phe381=)
c.1395C= (p.Phe465=)
n.2151C=
n.2208C=
n.2171C=
15g.42730621G>TCA392042064CDAN1c.2151C>A (p.Phe717Leu)
c.*1329C>A (n.*1329C>A)
c.144C>A (p.Phe48Leu)
c.2154C>A (p.Phe718Leu)
c.2178C>A (p.Phe726Leu)
c.2175C>A (p.Phe725Leu)
c.1143C>A (p.Phe381Leu)
c.1395C>A (p.Phe465Leu)
n.2151C>A
n.2208C>A
n.2171C>A
 dbSNP
15g.42730622A>CCA392042082CDAN1c.2150T>G (p.Phe717Cys)
c.*1328T>G (n.*1328T>G)
c.143T>G (p.Phe48Cys)
c.2153T>G (p.Phe718Cys)
c.2177T>G (p.Phe726Cys)
c.2174T>G (p.Phe725Cys)
c.1142T>G (p.Phe381Cys)
c.1394T>G (p.Phe465Cys)
n.2150T>G
n.2207T>G
n.2170T>G
15g.42730622A>GCA392042070CDAN1c.2150T>C (p.Phe717Ser)
c.*1328T>C (n.*1328T>C)
c.143T>C (p.Phe48Ser)
c.2153T>C (p.Phe718Ser)
c.2177T>C (p.Phe726Ser)
c.2174T>C (p.Phe725Ser)
c.1142T>C (p.Phe381Ser)
c.1394T>C (p.Phe465Ser)
n.2150T>C
n.2207T>C
n.2170T>C
15g.42730622A>TCA392042072CDAN1c.2150T>A (p.Phe717Tyr)
c.*1328T>A (n.*1328T>A)
c.143T>A (p.Phe48Tyr)
c.2153T>A (p.Phe718Tyr)
c.2177T>A (p.Phe726Tyr)
c.2174T>A (p.Phe725Tyr)
c.1142T>A (p.Phe381Tyr)
c.1394T>A (p.Phe465Tyr)
n.2150T>A
n.2207T>A
n.2170T>A
15g.42730623A>CCA392042088CDAN1c.2149T>G (p.Phe717Val)
c.*1327T>G (n.*1327T>G)
c.142T>G (p.Phe48Val)
c.2152T>G (p.Phe718Val)
c.2176T>G (p.Phe726Val)
c.2173T>G (p.Phe725Val)
c.1141T>G (p.Phe381Val)
c.1393T>G (p.Phe465Val)
n.2149T>G
n.2206T>G
n.2169T>G
15g.42730623A>GCA392042094CDAN1c.2149T>C (p.Phe717Leu)
c.*1327T>C (n.*1327T>C)
c.142T>C (p.Phe48Leu)
c.2152T>C (p.Phe718Leu)
c.2176T>C (p.Phe726Leu)
c.2173T>C (p.Phe725Leu)
c.1141T>C (p.Phe381Leu)
c.1393T>C (p.Phe465Leu)
n.2149T>C
n.2206T>C
n.2169T>C
15g.42730623A>TCA392042098CDAN1c.2149T>A (p.Phe717Ile)
c.*1327T>A (n.*1327T>A)
c.142T>A (p.Phe48Ile)
c.2152T>A (p.Phe718Ile)
c.2176T>A (p.Phe726Ile)
c.2173T>A (p.Phe725Ile)
c.1141T>A (p.Phe381Ile)
c.1393T>A (p.Phe465Ile)
n.2149T>A
n.2206T>A
n.2169T>A
15g.42730624G>ACA489895192CDAN1c.2148C>T (p.Ile716=)
c.*1326C>T (n.*1326C>T)
c.141C>T (p.Ile47=)
c.2151C>T (p.Ile717=)
c.2175C>T (p.Ile725=)
c.2172C>T (p.Ile724=)
c.1140C>T (p.Ile380=)
c.1392C>T (p.Ile464=)
n.2148C>T
n.2205C>T
n.2168C>T
 dbSNP gnomAD v4
15g.42730624G>CCA392042100CDAN1c.2148C>G (p.Ile716Met)
c.*1326C>G (n.*1326C>G)
c.141C>G (p.Ile47Met)
c.2151C>G (p.Ile717Met)
c.2175C>G (p.Ile725Met)
c.2172C>G (p.Ile724Met)
c.1140C>G (p.Ile380Met)
c.1392C>G (p.Ile464Met)
n.2148C>G
n.2205C>G
n.2168C>G
15g.42730624G>TCA489895191CDAN1c.2148C>A (p.Ile716=)
c.*1326C>A (n.*1326C>A)
c.141C>A (p.Ile47=)
c.2151C>A (p.Ile717=)
c.2175C>A (p.Ile725=)
c.2172C>A (p.Ile724=)
c.1140C>A (p.Ile380=)
c.1392C>A (p.Ile464=)
n.2148C>A
n.2205C>A
n.2168C>A
15g.42730625A>CCA392042109CDAN1c.2147T>G (p.Ile716Ser)
c.*1325T>G (n.*1325T>G)
c.140T>G (p.Ile47Ser)
c.2150T>G (p.Ile717Ser)
c.2174T>G (p.Ile725Ser)
c.2171T>G (p.Ile724Ser)
c.1139T>G (p.Ile380Ser)
c.1391T>G (p.Ile464Ser)
n.2147T>G
n.2204T>G
n.2167T>G
15g.42730625A>GCA392042112CDAN1c.2147T>C (p.Ile716Thr)
c.*1325T>C (n.*1325T>C)
c.140T>C (p.Ile47Thr)
c.2150T>C (p.Ile717Thr)
c.2174T>C (p.Ile725Thr)
c.2171T>C (p.Ile724Thr)
c.1139T>C (p.Ile380Thr)
c.1391T>C (p.Ile464Thr)
n.2147T>C
n.2204T>C
n.2167T>C
15g.42730625A>TCA392042117CDAN1c.2147T>A (p.Ile716Asn)
c.*1325T>A (n.*1325T>A)
c.140T>A (p.Ile47Asn)
c.2150T>A (p.Ile717Asn)
c.2174T>A (p.Ile725Asn)
c.2171T>A (p.Ile724Asn)
c.1139T>A (p.Ile380Asn)
c.1391T>A (p.Ile464Asn)
n.2147T>A
n.2204T>A
n.2167T>A
15g.42730626T>ACA392042121CDAN1c.2146A>T (p.Ile716Phe)
c.*1324A>T (n.*1324A>T)
c.139A>T (p.Ile47Phe)
c.2149A>T (p.Ile717Phe)
c.2173A>T (p.Ile725Phe)
c.2170A>T (p.Ile724Phe)
c.1138A>T (p.Ile380Phe)
c.1390A>T (p.Ile464Phe)
n.2146A>T
n.2203A>T
n.2166A>T
15g.42730626T>CCA392042129CDAN1c.2146A>G (p.Ile716Val)
c.*1324A>G (n.*1324A>G)
c.139A>G (p.Ile47Val)
c.2149A>G (p.Ile717Val)
c.2173A>G (p.Ile725Val)
c.2170A>G (p.Ile724Val)
c.1138A>G (p.Ile380Val)
c.1390A>G (p.Ile464Val)
n.2146A>G
n.2203A>G
n.2166A>G
15g.42730626T>GCA392042131CDAN1c.2146A>C (p.Ile716Leu)
c.*1324A>C (n.*1324A>C)
c.139A>C (p.Ile47Leu)
c.2149A>C (p.Ile717Leu)
c.2173A>C (p.Ile725Leu)
c.2170A>C (p.Ile724Leu)
c.1138A>C (p.Ile380Leu)
c.1390A>C (p.Ile464Leu)
n.2146A>C
n.2203A>C
n.2166A>C
 gnomAD v4
15g.42730627G>ACA489895193CDAN1c.2145C>T (p.Asp715=)
c.*1323C>T (n.*1323C>T)
c.138C>T (p.Asp46=)
c.2148C>T (p.Asp716=)
c.2172C>T (p.Asp724=)
c.2169C>T (p.Asp723=)
c.1137C>T (p.Asp379=)
c.1389C>T (p.Asp463=)
n.2145C>T
n.2202C>T
n.2165C>T
15g.42730627G>CCA392042134CDAN1c.2145C>G (p.Asp715Glu)
c.*1323C>G (n.*1323C>G)
c.138C>G (p.Asp46Glu)
c.2148C>G (p.Asp716Glu)
c.2172C>G (p.Asp724Glu)
c.2169C>G (p.Asp723Glu)
c.1137C>G (p.Asp379Glu)
c.1389C>G (p.Asp463Glu)
n.2145C>G
n.2202C>G
n.2165C>G
15g.42730627G>TCA392042135CDAN1c.2145C>A (p.Asp715Glu)
c.*1323C>A (n.*1323C>A)
c.138C>A (p.Asp46Glu)
c.2148C>A (p.Asp716Glu)
c.2172C>A (p.Asp724Glu)
c.2169C>A (p.Asp723Glu)
c.1137C>A (p.Asp379Glu)
c.1389C>A (p.Asp463Glu)
n.2145C>A
n.2202C>A
n.2165C>A
15g.42730628T>ACA392042140CDAN1c.2144A>T (p.Asp715Val)
c.*1322A>T (n.*1322A>T)
c.137A>T (p.Asp46Val)
c.2147A>T (p.Asp716Val)
c.2171A>T (p.Asp724Val)
c.2168A>T (p.Asp723Val)
c.1136A>T (p.Asp379Val)
c.1388A>T (p.Asp463Val)
n.2144A>T
n.2201A>T
n.2164A>T
15g.42730628T>CCA7515813CDAN1c.2144A>G (p.Asp715Gly)
c.*1322A>G (n.*1322A>G)
c.137A>G (p.Asp46Gly)
c.2147A>G (p.Asp716Gly)
c.2171A>G (p.Asp724Gly)
c.2168A>G (p.Asp723Gly)
c.1136A>G (p.Asp379Gly)
c.1388A>G (p.Asp463Gly)
n.2144A>G
n.2201A>G
n.2164A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730628T>GCA392042138CDAN1c.2144A>C (p.Asp715Ala)
c.*1322A>C (n.*1322A>C)
c.137A>C (p.Asp46Ala)
c.2147A>C (p.Asp716Ala)
c.2171A>C (p.Asp724Ala)
c.2168A>C (p.Asp723Ala)
c.1136A>C (p.Asp379Ala)
c.1388A>C (p.Asp463Ala)
n.2144A>C
n.2201A>C
n.2164A>C
15g.42730628T=CA2172870092CDAN1c.2144A= (p.Asp715=)
c.*1322A= (n.*1322A=)
c.137A= (p.Asp46=)
c.2147A= (p.Asp716=)
c.2171A= (p.Asp724=)
c.2168A= (p.Asp723=)
c.1136A= (p.Asp379=)
c.1388A= (p.Asp463=)
n.2144A=
n.2201A=
n.2164A=
15g.42730629C>ACA392042145CDAN1c.2143G>T (p.Asp715Tyr)
c.*1321G>T (n.*1321G>T)
c.136G>T (p.Asp46Tyr)
c.2146G>T (p.Asp716Tyr)
c.2170G>T (p.Asp724Tyr)
c.2167G>T (p.Asp723Tyr)
c.1135G>T (p.Asp379Tyr)
c.1387G>T (p.Asp463Tyr)
n.2143G>T
n.2200G>T
n.2163G>T
15g.42730629C>GCA392042141CDAN1c.2143G>C (p.Asp715His)
c.*1321G>C (n.*1321G>C)
c.136G>C (p.Asp46His)
c.2146G>C (p.Asp716His)
c.2170G>C (p.Asp724His)
c.2167G>C (p.Asp723His)
c.1135G>C (p.Asp379His)
c.1387G>C (p.Asp463His)
n.2143G>C
n.2200G>C
n.2163G>C
15g.42730629C>TCA392042142CDAN1c.2143G>A (p.Asp715Asn)
c.*1321G>A (n.*1321G>A)
c.136G>A (p.Asp46Asn)
c.2146G>A (p.Asp716Asn)
c.2170G>A (p.Asp724Asn)
c.2167G>A (p.Asp723Asn)
c.1135G>A (p.Asp379Asn)
c.1387G>A (p.Asp463Asn)
n.2143G>A
n.2200G>A
n.2163G>A
 COSMIC
15g.42730630C>ACA489895194CDAN1c.2142G>T (p.Arg714=)
c.*1320G>T (n.*1320G>T)
c.135G>T (p.Arg45=)
c.2145G>T (p.Arg715=)
c.2169G>T (p.Arg723=)
c.2166G>T (p.Arg722=)
c.1134G>T (p.Arg378=)
c.1386G>T (p.Arg462=)
n.2142G>T
n.2199G>T
n.2162G>T
15g.42730630C>GCA489895195CDAN1c.2142G>C (p.Arg714=)
c.*1320G>C (n.*1320G>C)
c.135G>C (p.Arg45=)
c.2145G>C (p.Arg715=)
c.2169G>C (p.Arg723=)
c.2166G>C (p.Arg722=)
c.1134G>C (p.Arg378=)
c.1386G>C (p.Arg462=)
n.2142G>C
n.2199G>C
n.2162G>C
15g.42730630C>TCA489895196CDAN1c.2142G>A (p.Arg714=)
c.*1320G>A (n.*1320G>A)
c.135G>A (p.Arg45=)
c.2145G>A (p.Arg715=)
c.2169G>A (p.Arg723=)
c.2166G>A (p.Arg722=)
c.1134G>A (p.Arg378=)
c.1386G>A (p.Arg462=)
n.2142G>A
n.2199G>A
n.2162G>A
15g.42730631C>ACA392042151CDAN1c.2141G>T (p.Arg714Leu)
c.*1319G>T (n.*1319G>T)
c.134G>T (p.Arg45Leu)
c.2144G>T (p.Arg715Leu)
c.2168G>T (p.Arg723Leu)
c.2165G>T (p.Arg722Leu)
c.1133G>T (p.Arg378Leu)
c.1385G>T (p.Arg462Leu)
n.2141G>T
n.2198G>T
n.2161G>T
15g.42730631C=CA2172870093CDAN1c.2141G= (p.Arg714=)
c.*1319G= (n.*1319G=)
c.134G= (p.Arg45=)
c.2144G= (p.Arg715=)
c.2168G= (p.Arg723=)
c.2165G= (p.Arg722=)
c.1133G= (p.Arg378=)
c.1385G= (p.Arg462=)
n.2141G=
n.2198G=
n.2161G=
15g.42730631C>GCA392042153CDAN1c.2141G>C (p.Arg714Pro)
c.*1319G>C (n.*1319G>C)
c.134G>C (p.Arg45Pro)
c.2144G>C (p.Arg715Pro)
c.2168G>C (p.Arg723Pro)
c.2165G>C (p.Arg722Pro)
c.1133G>C (p.Arg378Pro)
c.1385G>C (p.Arg462Pro)
n.2141G>C
n.2198G>C
n.2161G>C
 dbSNP gnomAD v4
15g.42730631C>TCA7515814CDAN1c.2141G>A (p.Arg714Gln)
c.*1319G>A (n.*1319G>A)
c.134G>A (p.Arg45Gln)
c.2144G>A (p.Arg715Gln)
c.2168G>A (p.Arg723Gln)
c.2165G>A (p.Arg722Gln)
c.1133G>A (p.Arg378Gln)
c.1385G>A (p.Arg462Gln)
n.2141G>A
n.2198G>A
n.2161G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730632G>ACA342448CDAN1c.2140C>T (p.Arg714Trp)
c.*1318C>T (n.*1318C>T)
c.133C>T (p.Arg45Trp)
c.2143C>T (p.Arg715Trp)
c.2167C>T (p.Arg723Trp)
c.2164C>T (p.Arg722Trp)
c.1132C>T (p.Arg378Trp)
c.1384C>T (p.Arg462Trp)
n.2140C>T
n.2197C>T
n.2160C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42730632G>CCA392042157CDAN1c.2140C>G (p.Arg714Gly)
c.*1318C>G (n.*1318C>G)
c.133C>G (p.Arg45Gly)
c.2143C>G (p.Arg715Gly)
c.2167C>G (p.Arg723Gly)
c.2164C>G (p.Arg722Gly)
c.1132C>G (p.Arg378Gly)
c.1384C>G (p.Arg462Gly)
n.2140C>G
n.2197C>G
n.2160C>G
15g.42730632G=CA2172870094CDAN1c.2140C= (p.Arg714=)
c.*1318C= (n.*1318C=)
c.133C= (p.Arg45=)
c.2143C= (p.Arg715=)
c.2167C= (p.Arg723=)
c.2164C= (p.Arg722=)
c.1132C= (p.Arg378=)
c.1384C= (p.Arg462=)
n.2140C=
n.2197C=
n.2160C=
15g.42730632G>TCA489895197CDAN1c.2140C>A (p.Arg714=)
c.*1318C>A (n.*1318C>A)
c.133C>A (p.Arg45=)
c.2143C>A (p.Arg715=)
c.2167C>A (p.Arg723=)
c.2164C>A (p.Arg722=)
c.1132C>A (p.Arg378=)
c.1384C>A (p.Arg462=)
n.2140C>A
n.2197C>A
n.2160C>A
15g.42730633G>ACA269904721CDAN1c.2139C>T (p.Tyr713=)
c.*1317C>T (n.*1317C>T)
c.132C>T (p.Tyr44=)
c.2142C>T (p.Tyr714=)
c.2166C>T (p.Tyr722=)
c.2163C>T (p.Tyr721=)
c.1131C>T (p.Tyr377=)
c.1383C>T (p.Tyr461=)
n.2139C>T
n.2196C>T
n.2159C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42730633G>CCA392042159CDAN1c.2139C>G (p.Tyr713Ter)
c.*1317C>G (n.*1317C>G)
c.132C>G (p.Tyr44Ter)
c.2142C>G (p.Tyr714Ter)
c.2166C>G (p.Tyr722Ter)
c.2163C>G (p.Tyr721Ter)
c.1131C>G (p.Tyr377Ter)
c.1383C>G (p.Tyr461Ter)
n.2139C>G
n.2196C>G
n.2159C>G
 gnomAD v4
15g.42730633G=CA2172870095CDAN1c.2139C= (p.Tyr713=)
c.*1317C= (n.*1317C=)
c.132C= (p.Tyr44=)
c.2142C= (p.Tyr714=)
c.2166C= (p.Tyr722=)
c.2163C= (p.Tyr721=)
c.1131C= (p.Tyr377=)
c.1383C= (p.Tyr461=)
n.2139C=
n.2196C=
n.2159C=
15g.42730633G>TCA392042163CDAN1c.2139C>A (p.Tyr713Ter)
c.*1317C>A (n.*1317C>A)
c.132C>A (p.Tyr44Ter)
c.2142C>A (p.Tyr714Ter)
c.2166C>A (p.Tyr722Ter)
c.2163C>A (p.Tyr721Ter)
c.1131C>A (p.Tyr377Ter)
c.1383C>A (p.Tyr461Ter)
n.2139C>A
n.2196C>A
n.2159C>A
15g.42730634T>ACA392042165CDAN1c.2138A>T (p.Tyr713Phe)
c.*1316A>T (n.*1316A>T)
c.131A>T (p.Tyr44Phe)
c.2141A>T (p.Tyr714Phe)
c.2165A>T (p.Tyr722Phe)
c.2162A>T (p.Tyr721Phe)
c.1130A>T (p.Tyr377Phe)
c.1382A>T (p.Tyr461Phe)
n.2138A>T
n.2195A>T
n.2158A>T
15g.42730634T>CCA392042166CDAN1c.2138A>G (p.Tyr713Cys)
c.*1316A>G (n.*1316A>G)
c.131A>G (p.Tyr44Cys)
c.2141A>G (p.Tyr714Cys)
c.2165A>G (p.Tyr722Cys)
c.2162A>G (p.Tyr721Cys)
c.1130A>G (p.Tyr377Cys)
c.1382A>G (p.Tyr461Cys)
n.2138A>G
n.2195A>G
n.2158A>G
15g.42730634T>GCA392042167CDAN1c.2138A>C (p.Tyr713Ser)
c.*1316A>C (n.*1316A>C)
c.131A>C (p.Tyr44Ser)
c.2141A>C (p.Tyr714Ser)
c.2165A>C (p.Tyr722Ser)
c.2162A>C (p.Tyr721Ser)
c.1130A>C (p.Tyr377Ser)
c.1382A>C (p.Tyr461Ser)
n.2138A>C
n.2195A>C
n.2158A>C
 dbSNP gnomAD v2 gnomAD v4
15g.42730634T=CA2172870096CDAN1c.2138A= (p.Tyr713=)
c.*1316A= (n.*1316A=)
c.131A= (p.Tyr44=)
c.2141A= (p.Tyr714=)
c.2165A= (p.Tyr722=)
c.2162A= (p.Tyr721=)
c.1130A= (p.Tyr377=)
c.1382A= (p.Tyr461=)
n.2138A=
n.2195A=
n.2158A=
15g.42730635A>CCA392042174CDAN1c.2137T>G (p.Tyr713Asp)
c.*1315T>G (n.*1315T>G)
c.130T>G (p.Tyr44Asp)
c.2140T>G (p.Tyr714Asp)
c.2164T>G (p.Tyr722Asp)
c.2161T>G (p.Tyr721Asp)
c.1129T>G (p.Tyr377Asp)
c.1381T>G (p.Tyr461Asp)
n.2137T>G
n.2194T>G
n.2157T>G
15g.42730635A>GCA392042176CDAN1c.2137T>C (p.Tyr713His)
c.*1315T>C (n.*1315T>C)
c.130T>C (p.Tyr44His)
c.2140T>C (p.Tyr714His)
c.2164T>C (p.Tyr722His)
c.2161T>C (p.Tyr721His)
c.1129T>C (p.Tyr377His)
c.1381T>C (p.Tyr461His)
n.2137T>C
n.2194T>C
n.2157T>C
15g.42730635A>TCA392042173CDAN1c.2137T>A (p.Tyr713Asn)
c.*1315T>A (n.*1315T>A)
c.130T>A (p.Tyr44Asn)
c.2140T>A (p.Tyr714Asn)
c.2164T>A (p.Tyr722Asn)
c.2161T>A (p.Tyr721Asn)
c.1129T>A (p.Tyr377Asn)
c.1381T>A (p.Tyr461Asn)
n.2137T>A
n.2194T>A
n.2157T>A
15g.42730636A=CA2172870097CDAN1c.2136T= (p.Tyr712=)
c.*1314T= (n.*1314T=)
c.129T= (p.Tyr43=)
c.2139T= (p.Tyr713=)
c.2163T= (p.Tyr721=)
c.2160T= (p.Tyr720=)
c.1128T= (p.Tyr376=)
c.1380T= (p.Tyr460=)
n.2136T=
n.2193T=
n.2156T=
15g.42730636A>CCA392042178CDAN1c.2136T>G (p.Tyr712Ter)
c.*1314T>G (n.*1314T>G)
c.129T>G (p.Tyr43Ter)
c.2139T>G (p.Tyr713Ter)
c.2163T>G (p.Tyr721Ter)
c.2160T>G (p.Tyr720Ter)
c.1128T>G (p.Tyr376Ter)
c.1380T>G (p.Tyr460Ter)
n.2136T>G
n.2193T>G
n.2156T>G
15g.42730636A>GCA489895198CDAN1c.2136T>C (p.Tyr712=)
c.*1314T>C (n.*1314T>C)
c.129T>C (p.Tyr43=)
c.2139T>C (p.Tyr713=)
c.2163T>C (p.Tyr721=)
c.2160T>C (p.Tyr720=)
c.1128T>C (p.Tyr376=)
c.1380T>C (p.Tyr460=)
n.2136T>C
n.2193T>C
n.2156T>C
 ClinVar dbSNP gnomAD v4
15g.42730636A>TCA392042179CDAN1c.2136T>A (p.Tyr712Ter)
c.*1314T>A (n.*1314T>A)
c.129T>A (p.Tyr43Ter)
c.2139T>A (p.Tyr713Ter)
c.2163T>A (p.Tyr721Ter)
c.2160T>A (p.Tyr720Ter)
c.1128T>A (p.Tyr376Ter)
c.1380T>A (p.Tyr460Ter)
n.2136T>A
n.2193T>A
n.2156T>A
15g.42730637T>ACA392042180CDAN1c.2135A>T (p.Tyr712Phe)
c.*1313A>T (n.*1313A>T)
c.128A>T (p.Tyr43Phe)
c.2138A>T (p.Tyr713Phe)
c.2162A>T (p.Tyr721Phe)
c.2159A>T (p.Tyr720Phe)
c.1127A>T (p.Tyr376Phe)
c.1379A>T (p.Tyr460Phe)
n.2135A>T
n.2192A>T
n.2155A>T
15g.42730637T>CCA392042181CDAN1c.2135A>G (p.Tyr712Cys)
c.*1313A>G (n.*1313A>G)
c.128A>G (p.Tyr43Cys)
c.2138A>G (p.Tyr713Cys)
c.2162A>G (p.Tyr721Cys)
c.2159A>G (p.Tyr720Cys)
c.1127A>G (p.Tyr376Cys)
c.1379A>G (p.Tyr460Cys)
n.2135A>G
n.2192A>G
n.2155A>G
15g.42730637T>GCA392042182CDAN1c.2135A>C (p.Tyr712Ser)
c.*1313A>C (n.*1313A>C)
c.128A>C (p.Tyr43Ser)
c.2138A>C (p.Tyr713Ser)
c.2162A>C (p.Tyr721Ser)
c.2159A>C (p.Tyr720Ser)
c.1127A>C (p.Tyr376Ser)
c.1379A>C (p.Tyr460Ser)
n.2135A>C
n.2192A>C
n.2155A>C
15g.42730638_42730640delCA2628073556CDAN1c.2133_2135del (p.Glu711_Tyr712delinsAsp)
c.*1311_*1313del (n.*1311_*1313del)
c.126_128del (p.Glu42_Tyr43delinsAsp)
c.2136_2138del (p.Glu712_Tyr713delinsAsp)
c.2160_2162del (p.Glu720_Tyr721delinsAsp)
c.2157_2159del (p.Glu719_Tyr720delinsAsp)
c.1125_1127del (p.Glu375_Tyr376delinsAsp)
c.1377_1379del (p.Glu459_Tyr460delinsAsp)
n.2133_2135del
n.2190_2192del
n.2153_2155del
 gnomAD v4
15g.42730638A>CCA392042190CDAN1c.2134T>G (p.Tyr712Asp)
c.*1312T>G (n.*1312T>G)
c.127T>G (p.Tyr43Asp)
c.2137T>G (p.Tyr713Asp)
c.2161T>G (p.Tyr721Asp)
c.2158T>G (p.Tyr720Asp)
c.1126T>G (p.Tyr376Asp)
c.1378T>G (p.Tyr460Asp)
n.2134T>G
n.2191T>G
n.2154T>G
15g.42730638A>GCA392042185CDAN1c.2134T>C (p.Tyr712His)
c.*1312T>C (n.*1312T>C)
c.127T>C (p.Tyr43His)
c.2137T>C (p.Tyr713His)
c.2161T>C (p.Tyr721His)
c.2158T>C (p.Tyr720His)
c.1126T>C (p.Tyr376His)
c.1378T>C (p.Tyr460His)
n.2134T>C
n.2191T>C
n.2154T>C
15g.42730638A>TCA392042188CDAN1c.2134T>A (p.Tyr712Asn)
c.*1312T>A (n.*1312T>A)
c.127T>A (p.Tyr43Asn)
c.2137T>A (p.Tyr713Asn)
c.2161T>A (p.Tyr721Asn)
c.2158T>A (p.Tyr720Asn)
c.1126T>A (p.Tyr376Asn)
c.1378T>A (p.Tyr460Asn)
n.2134T>A
n.2191T>A
n.2154T>A
15g.42730638_42730639delinsATCA2172870098CDAN1c.2133_2134delinsAT (p.Glu711=)
c.*1311_*1312delinsAT (n.*1311_*1312delinsAT)
c.126_127delinsAT (p.Glu42=)
c.2136_2137delinsAT (p.Glu712=)
c.2160_2161delinsAT (p.Glu720=)
c.2157_2158delinsAT (p.Glu719=)
c.1125_1126delinsAT (p.Glu375=)
c.1377_1378delinsAT (p.Glu459=)
n.2133_2134delinsAT
n.2190_2191delinsAT
n.2153_2154delinsAT
15g.42730639T>ACA392042193CDAN1c.2133A>T (p.Glu711Asp)
c.*1311A>T (n.*1311A>T)
c.126A>T (p.Glu42Asp)
c.2136A>T (p.Glu712Asp)
c.2160A>T (p.Glu720Asp)
c.2157A>T (p.Glu719Asp)
c.1125A>T (p.Glu375Asp)
c.1377A>T (p.Glu459Asp)
n.2133A>T
n.2190A>T
n.2153A>T
15g.42730639T>CCA489895199CDAN1c.2133A>G (p.Glu711=)
c.*1311A>G (n.*1311A>G)
c.126A>G (p.Glu42=)
c.2136A>G (p.Glu712=)
c.2160A>G (p.Glu720=)
c.2157A>G (p.Glu719=)
c.1125A>G (p.Glu375=)
c.1377A>G (p.Glu459=)
n.2133A>G
n.2190A>G
n.2153A>G
 dbSNP gnomAD v3 gnomAD v4
15g.42730639T>GCA392042194CDAN1c.2133A>C (p.Glu711Asp)
c.*1311A>C (n.*1311A>C)
c.126A>C (p.Glu42Asp)
c.2136A>C (p.Glu712Asp)
c.2160A>C (p.Glu720Asp)
c.2157A>C (p.Glu719Asp)
c.1125A>C (p.Glu375Asp)
c.1377A>C (p.Glu459Asp)
n.2133A>C
n.2190A>C
n.2153A>C
15g.42730639T=CA2172870099CDAN1c.2133A= (p.Glu711=)
c.*1311A= (n.*1311A=)
c.126A= (p.Glu42=)
c.2136A= (p.Glu712=)
c.2160A= (p.Glu720=)
c.2157A= (p.Glu719=)
c.1125A= (p.Glu375=)
c.1377A= (p.Glu459=)
n.2133A=
n.2190A=
n.2153A=
15g.42730640delCA7515815CDAN1c.2133del (p.Glu711AspfsTer30)
c.*1311del (n.*1311del)
c.126del (p.Glu42AspfsTer30)
c.2136del (p.Glu712AspfsTer30)
c.2160del (p.Glu720AspfsTer30)
c.2157del (p.Glu719AspfsTer30)
c.1125del (p.Glu375AspfsTer30)
c.1377del (p.Glu459AspfsTer30)
n.2133del
n.2190del
n.2153del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730640T>ACA392042195CDAN1c.2132A>T (p.Glu711Val)
c.*1310A>T (n.*1310A>T)
c.125A>T (p.Glu42Val)
c.2135A>T (p.Glu712Val)
c.2159A>T (p.Glu720Val)
c.2156A>T (p.Glu719Val)
c.1124A>T (p.Glu375Val)
c.1376A>T (p.Glu459Val)
n.2132A>T
n.2189A>T
n.2152A>T
15g.42730640T>CCA392042200CDAN1c.2132A>G (p.Glu711Gly)
c.*1310A>G (n.*1310A>G)
c.125A>G (p.Glu42Gly)
c.2135A>G (p.Glu712Gly)
c.2159A>G (p.Glu720Gly)
c.2156A>G (p.Glu719Gly)
c.1124A>G (p.Glu375Gly)
c.1376A>G (p.Glu459Gly)
n.2132A>G
n.2189A>G
n.2152A>G
 dbSNP
15g.42730640T>GCA392042201CDAN1c.2132A>C (p.Glu711Ala)
c.*1310A>C (n.*1310A>C)
c.125A>C (p.Glu42Ala)
c.2135A>C (p.Glu712Ala)
c.2159A>C (p.Glu720Ala)
c.2156A>C (p.Glu719Ala)
c.1124A>C (p.Glu375Ala)
c.1376A>C (p.Glu459Ala)
n.2132A>C
n.2189A>C
n.2152A>C
15g.42730640T=CA2172870100CDAN1c.2132A= (p.Glu711=)
c.*1310A= (n.*1310A=)
c.125A= (p.Glu42=)
c.2135A= (p.Glu712=)
c.2159A= (p.Glu720=)
c.2156A= (p.Glu719=)
c.1124A= (p.Glu375=)
c.1376A= (p.Glu459=)
n.2132A=
n.2189A=
n.2152A=
15g.42730641C>ACA392042205CDAN1c.2131G>T (p.Glu711Ter)
c.*1309G>T (n.*1309G>T)
c.124G>T (p.Glu42Ter)
c.2134G>T (p.Glu712Ter)
c.2158G>T (p.Glu720Ter)
c.2155G>T (p.Glu719Ter)
c.1123G>T (p.Glu375Ter)
c.1375G>T (p.Glu459Ter)
n.2131G>T
n.2188G>T
n.2151G>T
15g.42730641C>GCA392042208CDAN1c.2131G>C (p.Glu711Gln)
c.*1309G>C (n.*1309G>C)
c.124G>C (p.Glu42Gln)
c.2134G>C (p.Glu712Gln)
c.2158G>C (p.Glu720Gln)
c.2155G>C (p.Glu719Gln)
c.1123G>C (p.Glu375Gln)
c.1375G>C (p.Glu459Gln)
n.2131G>C
n.2188G>C
n.2151G>C
15g.42730641C>TCA392042203CDAN1c.2131G>A (p.Glu711Lys)
c.*1309G>A (n.*1309G>A)
c.124G>A (p.Glu42Lys)
c.2134G>A (p.Glu712Lys)
c.2158G>A (p.Glu720Lys)
c.2155G>A (p.Glu719Lys)
c.1123G>A (p.Glu375Lys)
c.1375G>A (p.Glu459Lys)
n.2131G>A
n.2188G>A
n.2151G>A
15g.42730642C>ACA489895200CDAN1c.2130G>T (p.Leu710=)
c.*1308G>T (n.*1308G>T)
c.123G>T (p.Leu41=)
c.2133G>T (p.Leu711=)
c.2157G>T (p.Leu719=)
c.2154G>T (p.Leu718=)
c.1122G>T (p.Leu374=)
c.1374G>T (p.Leu458=)
n.2130G>T
n.2187G>T
n.2150G>T
15g.42730642C>GCA489895201CDAN1c.2130G>C (p.Leu710=)
c.*1308G>C (n.*1308G>C)
c.123G>C (p.Leu41=)
c.2133G>C (p.Leu711=)
c.2157G>C (p.Leu719=)
c.2154G>C (p.Leu718=)
c.1122G>C (p.Leu374=)
c.1374G>C (p.Leu458=)
n.2130G>C
n.2187G>C
n.2150G>C
15g.42730642C>TCA489895202CDAN1c.2130G>A (p.Leu710=)
c.*1308G>A (n.*1308G>A)
c.123G>A (p.Leu41=)
c.2133G>A (p.Leu711=)
c.2157G>A (p.Leu719=)
c.2154G>A (p.Leu718=)
c.1122G>A (p.Leu374=)
c.1374G>A (p.Leu458=)
n.2130G>A
n.2187G>A
n.2150G>A
15g.42730643A>CCA392042212CDAN1c.2129T>G (p.Leu710Arg)
c.*1307T>G (n.*1307T>G)
c.122T>G (p.Leu41Arg)
c.2132T>G (p.Leu711Arg)
c.2156T>G (p.Leu719Arg)
c.2153T>G (p.Leu718Arg)
c.1121T>G (p.Leu374Arg)
c.1373T>G (p.Leu458Arg)
n.2129T>G
n.2186T>G
n.2149T>G
15g.42730643A>GCA392042218CDAN1c.2129T>C (p.Leu710Pro)
c.*1307T>C (n.*1307T>C)
c.122T>C (p.Leu41Pro)
c.2132T>C (p.Leu711Pro)
c.2156T>C (p.Leu719Pro)
c.2153T>C (p.Leu718Pro)
c.1121T>C (p.Leu374Pro)
c.1373T>C (p.Leu458Pro)
n.2129T>C
n.2186T>C
n.2149T>C
15g.42730643A>TCA392042215CDAN1c.2129T>A (p.Leu710Gln)
c.*1307T>A (n.*1307T>A)
c.122T>A (p.Leu41Gln)
c.2132T>A (p.Leu711Gln)
c.2156T>A (p.Leu719Gln)
c.2153T>A (p.Leu718Gln)
c.1121T>A (p.Leu374Gln)
c.1373T>A (p.Leu458Gln)
n.2129T>A
n.2186T>A
n.2149T>A
15g.42730644G>ACA489895203CDAN1c.2128C>T (p.Leu710=)
c.*1306C>T (n.*1306C>T)
c.121C>T (p.Leu41=)
c.2131C>T (p.Leu711=)
c.2155C>T (p.Leu719=)
c.2152C>T (p.Leu718=)
c.1120C>T (p.Leu374=)
c.1372C>T (p.Leu458=)
n.2128C>T
n.2185C>T
n.2148C>T
 dbSNP
15g.42730644G>CCA392042220CDAN1c.2128C>G (p.Leu710Val)
c.*1306C>G (n.*1306C>G)
c.121C>G (p.Leu41Val)
c.2131C>G (p.Leu711Val)
c.2155C>G (p.Leu719Val)
c.2152C>G (p.Leu718Val)
c.1120C>G (p.Leu374Val)
c.1372C>G (p.Leu458Val)
n.2128C>G
n.2185C>G
n.2148C>G
15g.42730644G=CA2172870101CDAN1c.2128C= (p.Leu710=)
c.*1306C= (n.*1306C=)
c.121C= (p.Leu41=)
c.2131C= (p.Leu711=)
c.2155C= (p.Leu719=)
c.2152C= (p.Leu718=)
c.1120C= (p.Leu374=)
c.1372C= (p.Leu458=)
n.2128C=
n.2185C=
n.2148C=
15g.42730644G>TCA392042221CDAN1c.2128C>A (p.Leu710Met)
c.*1306C>A (n.*1306C>A)
c.121C>A (p.Leu41Met)
c.2131C>A (p.Leu711Met)
c.2155C>A (p.Leu719Met)
c.2152C>A (p.Leu718Met)
c.1120C>A (p.Leu374Met)
c.1372C>A (p.Leu458Met)
n.2128C>A
n.2185C>A
n.2148C>A
15g.42730645C>ACA392042223CDAN1c.2127G>T (p.Leu709Phe)
c.*1305G>T (n.*1305G>T)
c.120G>T (p.Leu40Phe)
c.2130G>T (p.Leu710Phe)
c.2154G>T (p.Leu718Phe)
c.2151G>T (p.Leu717Phe)
c.1119G>T (p.Leu373Phe)
c.1371G>T (p.Leu457Phe)
n.2127G>T
n.2184G>T
n.2147G>T
15g.42730645C>GCA392042224CDAN1c.2127G>C (p.Leu709Phe)
c.*1305G>C (n.*1305G>C)
c.120G>C (p.Leu40Phe)
c.2130G>C (p.Leu710Phe)
c.2154G>C (p.Leu718Phe)
c.2151G>C (p.Leu717Phe)
c.1119G>C (p.Leu373Phe)
c.1371G>C (p.Leu457Phe)
n.2127G>C
n.2184G>C
n.2147G>C
15g.42730645C>TCA489895204CDAN1c.2127G>A (p.Leu709=)
c.*1305G>A (n.*1305G>A)
c.120G>A (p.Leu40=)
c.2130G>A (p.Leu710=)
c.2154G>A (p.Leu718=)
c.2151G>A (p.Leu717=)
c.1119G>A (p.Leu373=)
c.1371G>A (p.Leu457=)
n.2127G>A
n.2184G>A
n.2147G>A
15g.42730645_42730647delCA2695220030CDAN1c.2125_2127del (p.Leu709del)
c.*1303_*1305del (n.*1303_*1305del)
c.118_120del (p.Leu40del)
c.2128_2130del (p.Leu710del)
c.2152_2154del (p.Leu718del)
c.2149_2151del (p.Leu717del)
c.1117_1119del (p.Leu373del)
c.1369_1371del (p.Leu457del)
n.2125_2127del
n.2182_2184del
n.2145_2147del
15g.42730646A>CCA392042227CDAN1c.2126T>G (p.Leu709Trp)
c.*1304T>G (n.*1304T>G)
c.119T>G (p.Leu40Trp)
c.2129T>G (p.Leu710Trp)
c.2153T>G (p.Leu718Trp)
c.2150T>G (p.Leu717Trp)
c.1118T>G (p.Leu373Trp)
c.1370T>G (p.Leu457Trp)
n.2126T>G
n.2183T>G
n.2146T>G
15g.42730646A>GCA392042229CDAN1c.2126T>C (p.Leu709Ser)
c.*1304T>C (n.*1304T>C)
c.119T>C (p.Leu40Ser)
c.2129T>C (p.Leu710Ser)
c.2153T>C (p.Leu718Ser)
c.2150T>C (p.Leu717Ser)
c.1118T>C (p.Leu373Ser)
c.1370T>C (p.Leu457Ser)
n.2126T>C
n.2183T>C
n.2146T>C
15g.42730646A>TCA392042238CDAN1c.2126T>A (p.Leu709Ter)
c.*1304T>A (n.*1304T>A)
c.119T>A (p.Leu40Ter)
c.2129T>A (p.Leu710Ter)
c.2153T>A (p.Leu718Ter)
c.2150T>A (p.Leu717Ter)
c.1118T>A (p.Leu373Ter)
c.1370T>A (p.Leu457Ter)
n.2126T>A
n.2183T>A
n.2146T>A
15g.42730647A>CCA392042241CDAN1c.2125T>G (p.Leu709Val)
c.*1303T>G (n.*1303T>G)
c.118T>G (p.Leu40Val)
c.2128T>G (p.Leu710Val)
c.2152T>G (p.Leu718Val)
c.2149T>G (p.Leu717Val)
c.1117T>G (p.Leu373Val)
c.1369T>G (p.Leu457Val)
n.2125T>G
n.2182T>G
n.2145T>G
15g.42730647A>GCA489895205CDAN1c.2125T>C (p.Leu709=)
c.*1303T>C (n.*1303T>C)
c.118T>C (p.Leu40=)
c.2128T>C (p.Leu710=)
c.2152T>C (p.Leu718=)
c.2149T>C (p.Leu717=)
c.1117T>C (p.Leu373=)
c.1369T>C (p.Leu457=)
n.2125T>C
n.2182T>C
n.2145T>C
15g.42730647A>TCA392042246CDAN1c.2125T>A (p.Leu709Met)
c.*1303T>A (n.*1303T>A)
c.118T>A (p.Leu40Met)
c.2128T>A (p.Leu710Met)
c.2152T>A (p.Leu718Met)
c.2149T>A (p.Leu717Met)
c.1117T>A (p.Leu373Met)
c.1369T>A (p.Leu457Met)
n.2125T>A
n.2182T>A
n.2145T>A
15g.42730648G>ACA269904733CDAN1c.2124C>T (p.Pro708=)
c.*1302C>T (n.*1302C>T)
c.117C>T (p.Pro39=)
c.2127C>T (p.Pro709=)
c.2151C>T (p.Pro717=)
c.2148C>T (p.Pro716=)
c.1116C>T (p.Pro372=)
c.1368C>T (p.Pro456=)
n.2124C>T
n.2181C>T
n.2144C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.42730648G>CCA7515816CDAN1c.2124C>G (p.Pro708=)
c.*1302C>G (n.*1302C>G)
c.117C>G (p.Pro39=)
c.2127C>G (p.Pro709=)
c.2151C>G (p.Pro717=)
c.2148C>G (p.Pro716=)
c.1116C>G (p.Pro372=)
c.1368C>G (p.Pro456=)
n.2124C>G
n.2181C>G
n.2144C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42730648G=CA2172870102CDAN1c.2124C= (p.Pro708=)
c.*1302C= (n.*1302C=)
c.117C= (p.Pro39=)
c.2127C= (p.Pro709=)
c.2151C= (p.Pro717=)
c.2148C= (p.Pro716=)
c.1116C= (p.Pro372=)
c.1368C= (p.Pro456=)
n.2124C=
n.2181C=
n.2144C=
15g.42730648G>TCA489895206CDAN1c.2124C>A (p.Pro708=)
c.*1302C>A (n.*1302C>A)
c.117C>A (p.Pro39=)
c.2127C>A (p.Pro709=)
c.2151C>A (p.Pro717=)
c.2148C>A (p.Pro716=)
c.1116C>A (p.Pro372=)
c.1368C>A (p.Pro456=)
n.2124C>A
n.2181C>A
n.2144C>A
15g.42730649G>ACA392042256CDAN1c.2123C>T (p.Pro708Leu)
c.*1301C>T (n.*1301C>T)
c.116C>T (p.Pro39Leu)
c.2126C>T (p.Pro709Leu)
c.2150C>T (p.Pro717Leu)
c.2147C>T (p.Pro716Leu)
c.1115C>T (p.Pro372Leu)
c.1367C>T (p.Pro456Leu)
n.2123C>T
n.2180C>T
n.2143C>T
15g.42730649G>CCA392042254CDAN1c.2123C>G (p.Pro708Arg)
c.*1301C>G (n.*1301C>G)
c.116C>G (p.Pro39Arg)
c.2126C>G (p.Pro709Arg)
c.2150C>G (p.Pro717Arg)
c.2147C>G (p.Pro716Arg)
c.1115C>G (p.Pro372Arg)
c.1367C>G (p.Pro456Arg)
n.2123C>G
n.2180C>G
n.2143C>G
15g.42730649G>TCA392042252CDAN1c.2123C>A (p.Pro708His)
c.*1301C>A (n.*1301C>A)
c.116C>A (p.Pro39His)
c.2126C>A (p.Pro709His)
c.2150C>A (p.Pro717His)
c.2147C>A (p.Pro716His)
c.1115C>A (p.Pro372His)
c.1367C>A (p.Pro456His)
n.2123C>A
n.2180C>A
n.2143C>A
15g.42730650G>ACA392042258CDAN1c.2122C>T (p.Pro708Ser)
c.*1300C>T (n.*1300C>T)
c.115C>T (p.Pro39Ser)
c.2125C>T (p.Pro709Ser)
c.2149C>T (p.Pro717Ser)
c.2146C>T (p.Pro716Ser)
c.1114C>T (p.Pro372Ser)
c.1366C>T (p.Pro456Ser)
n.2122C>T
n.2179C>T
n.2142C>T
 COSMIC
15g.42730650G>CCA392042259CDAN1c.2122C>G (p.Pro708Ala)
c.*1300C>G (n.*1300C>G)
c.115C>G (p.Pro39Ala)
c.2125C>G (p.Pro709Ala)
c.2149C>G (p.Pro717Ala)
c.2146C>G (p.Pro716Ala)
c.1114C>G (p.Pro372Ala)
c.1366C>G (p.Pro456Ala)
n.2122C>G
n.2179C>G
n.2142C>G
15g.42730650G>TCA392042262CDAN1c.2122C>A (p.Pro708Thr)
c.*1300C>A (n.*1300C>A)
c.115C>A (p.Pro39Thr)
c.2125C>A (p.Pro709Thr)
c.2149C>A (p.Pro717Thr)
c.2146C>A (p.Pro716Thr)
c.1114C>A (p.Pro372Thr)
c.1366C>A (p.Pro456Thr)
n.2122C>A
n.2179C>A
n.2142C>A
15g.42730651A>CCA489895207CDAN1c.2121T>G (p.Val707=)
c.*1299T>G (n.*1299T>G)
c.114T>G (p.Val38=)
c.2124T>G (p.Val708=)
c.2148T>G (p.Val716=)
c.2145T>G (p.Val715=)
c.1113T>G (p.Val371=)
c.1365T>G (p.Val455=)
n.2121T>G
n.2178T>G
n.2141T>G
15g.42730651A>GCA489895208CDAN1c.2121T>C (p.Val707=)
c.*1299T>C (n.*1299T>C)
c.114T>C (p.Val38=)
c.2124T>C (p.Val708=)
c.2148T>C (p.Val716=)
c.2145T>C (p.Val715=)
c.1113T>C (p.Val371=)
c.1365T>C (p.Val455=)
n.2121T>C
n.2178T>C
n.2141T>C
15g.42730651A>TCA489895209CDAN1c.2121T>A (p.Val707=)
c.*1299T>A (n.*1299T>A)
c.114T>A (p.Val38=)
c.2124T>A (p.Val708=)
c.2148T>A (p.Val716=)
c.2145T>A (p.Val715=)
c.1113T>A (p.Val371=)
c.1365T>A (p.Val455=)
n.2121T>A
n.2178T>A
n.2141T>A
15g.42730655_42730657delCA2628073562CDAN1c.2119_2121del (p.Val707del)
c.*1297_*1299del (n.*1297_*1299del)
c.112_114del (p.Val38del)
c.2122_2124del (p.Val708del)
c.2146_2148del (p.Val716del)
c.2143_2145del (p.Val715del)
c.1111_1113del (p.Val371del)
c.1363_1365del (p.Val455del)
n.2119_2121del
n.2176_2178del
n.2139_2141del
 gnomAD v4
15g.42730652A>CCA392042269CDAN1c.2120T>G (p.Val707Gly)
c.*1298T>G (n.*1298T>G)
c.113T>G (p.Val38Gly)
c.2123T>G (p.Val708Gly)
c.2147T>G (p.Val716Gly)
c.2144T>G (p.Val715Gly)
c.1112T>G (p.Val371Gly)
c.1364T>G (p.Val455Gly)
n.2120T>G
n.2177T>G
n.2140T>G
15g.42730652A>GCA392042271CDAN1c.2120T>C (p.Val707Ala)
c.*1298T>C (n.*1298T>C)
c.113T>C (p.Val38Ala)
c.2123T>C (p.Val708Ala)
c.2147T>C (p.Val716Ala)
c.2144T>C (p.Val715Ala)
c.1112T>C (p.Val371Ala)
c.1364T>C (p.Val455Ala)
n.2120T>C
n.2177T>C
n.2140T>C
15g.42730652A>TCA392042273CDAN1c.2120T>A (p.Val707Asp)
c.*1298T>A (n.*1298T>A)
c.113T>A (p.Val38Asp)
c.2123T>A (p.Val708Asp)
c.2147T>A (p.Val716Asp)
c.2144T>A (p.Val715Asp)
c.1112T>A (p.Val371Asp)
c.1364T>A (p.Val455Asp)
n.2120T>A
n.2177T>A
n.2140T>A
15g.42730653C>ACA392042274CDAN1c.2119G>T (p.Val707Phe)
c.*1297G>T (n.*1297G>T)
c.112G>T (p.Val38Phe)
c.2122G>T (p.Val708Phe)
c.2146G>T (p.Val716Phe)
c.2143G>T (p.Val715Phe)
c.1111G>T (p.Val371Phe)
c.1363G>T (p.Val455Phe)
n.2119G>T
n.2176G>T
n.2139G>T
15g.42730653C=CA2172870103CDAN1c.2119G= (p.Val707=)
c.*1297G= (n.*1297G=)
c.112G= (p.Val38=)
c.2122G= (p.Val708=)
c.2146G= (p.Val716=)
c.2143G= (p.Val715=)
c.1111G= (p.Val371=)
c.1363G= (p.Val455=)
n.2119G=
n.2176G=
n.2139G=
15g.42730653C>GCA392042275CDAN1c.2119G>C (p.Val707Leu)
c.*1297G>C (n.*1297G>C)
c.112G>C (p.Val38Leu)
c.2122G>C (p.Val708Leu)
c.2146G>C (p.Val716Leu)
c.2143G>C (p.Val715Leu)
c.1111G>C (p.Val371Leu)
c.1363G>C (p.Val455Leu)
n.2119G>C
n.2176G>C
n.2139G>C
15g.42730653C>TCA392042276CDAN1c.2119G>A (p.Val707Ile)
c.*1297G>A (n.*1297G>A)
c.112G>A (p.Val38Ile)
c.2122G>A (p.Val708Ile)
c.2146G>A (p.Val716Ile)
c.2143G>A (p.Val715Ile)
c.1111G>A (p.Val371Ile)
c.1363G>A (p.Val455Ile)
n.2119G>A
n.2176G>A
n.2139G>A
 dbSNP
15g.42730654A>CCA489895210CDAN1c.2118T>G (p.Val706=)
c.*1296T>G (n.*1296T>G)
c.111T>G (p.Val37=)
c.2121T>G (p.Val707=)
c.2145T>G (p.Val715=)
c.2142T>G (p.Val714=)
c.1110T>G (p.Val370=)
c.1362T>G (p.Val454=)
n.2118T>G
n.2175T>G
n.2138T>G
 gnomAD v4
15g.42730654A>GCA489895212CDAN1c.2118T>C (p.Val706=)
c.*1296T>C (n.*1296T>C)
c.111T>C (p.Val37=)
c.2121T>C (p.Val707=)
c.2145T>C (p.Val715=)
c.2142T>C (p.Val714=)
c.1110T>C (p.Val370=)
c.1362T>C (p.Val454=)
n.2118T>C
n.2175T>C
n.2138T>C
15g.42730654A>TCA489895211CDAN1c.2118T>A (p.Val706=)
c.*1296T>A (n.*1296T>A)
c.111T>A (p.Val37=)
c.2121T>A (p.Val707=)
c.2145T>A (p.Val715=)
c.2142T>A (p.Val714=)
c.1110T>A (p.Val370=)
c.1362T>A (p.Val454=)
n.2118T>A
n.2175T>A
n.2138T>A
15g.42730655A>CCA392042279CDAN1c.2117T>G (p.Val706Gly)
c.*1295T>G (n.*1295T>G)
c.110T>G (p.Val37Gly)
c.2120T>G (p.Val707Gly)
c.2144T>G (p.Val715Gly)
c.2141T>G (p.Val714Gly)
c.1109T>G (p.Val370Gly)
c.1361T>G (p.Val454Gly)
n.2117T>G
n.2174T>G
n.2137T>G
15g.42730655A>GCA392042280CDAN1c.2117T>C (p.Val706Ala)
c.*1295T>C (n.*1295T>C)
c.110T>C (p.Val37Ala)
c.2120T>C (p.Val707Ala)
c.2144T>C (p.Val715Ala)
c.2141T>C (p.Val714Ala)
c.1109T>C (p.Val370Ala)
c.1361T>C (p.Val454Ala)
n.2117T>C
n.2174T>C
n.2137T>C
15g.42730655A>TCA392042283CDAN1c.2117T>A (p.Val706Asp)
c.*1295T>A (n.*1295T>A)
c.110T>A (p.Val37Asp)
c.2120T>A (p.Val707Asp)
c.2144T>A (p.Val715Asp)
c.2141T>A (p.Val714Asp)
c.1109T>A (p.Val370Asp)
c.1361T>A (p.Val454Asp)
n.2117T>A
n.2174T>A
n.2137T>A
15g.42730656C>ACA392042287CDAN1c.2116G>T (p.Val706Phe)
c.*1294G>T (n.*1294G>T)
c.109G>T (p.Val37Phe)
c.2119G>T (p.Val707Phe)
c.2143G>T (p.Val715Phe)
c.2140G>T (p.Val714Phe)
c.1108G>T (p.Val370Phe)
c.1360G>T (p.Val454Phe)
n.2116G>T
n.2173G>T
n.2136G>T
15g.42730656C=CA2172870104CDAN1c.2116G= (p.Val706=)
c.*1294G= (n.*1294G=)
c.109G= (p.Val37=)
c.2119G= (p.Val707=)
c.2143G= (p.Val715=)
c.2140G= (p.Val714=)
c.1108G= (p.Val370=)
c.1360G= (p.Val454=)
n.2116G=
n.2173G=
n.2136G=
15g.42730656C>GCA392042289CDAN1c.2116G>C (p.Val706Leu)
c.*1294G>C (n.*1294G>C)
c.109G>C (p.Val37Leu)
c.2119G>C (p.Val707Leu)
c.2143G>C (p.Val715Leu)
c.2140G>C (p.Val714Leu)
c.1108G>C (p.Val370Leu)
c.1360G>C (p.Val454Leu)
n.2116G>C
n.2173G>C
n.2136G>C
15g.42730656C>TCA7515817CDAN1c.2116G>A (p.Val706Ile)
c.*1294G>A (n.*1294G>A)
c.109G>A (p.Val37Ile)
c.2119G>A (p.Val707Ile)
c.2143G>A (p.Val715Ile)
c.2140G>A (p.Val714Ile)
c.1108G>A (p.Val370Ile)
c.1360G>A (p.Val454Ile)
n.2116G>A
n.2173G>A
n.2136G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730657A=CA2172870105CDAN1c.2115T= (p.His705=)
c.*1293T= (n.*1293T=)
c.108T= (p.His36=)
c.2118T= (p.His706=)
c.2142T= (p.His714=)
c.2139T= (p.His713=)
c.1107T= (p.His369=)
c.1359T= (p.His453=)
n.2115T=
n.2172T=
n.2135T=
15g.42730657A>CCA392042291CDAN1c.2115T>G (p.His705Gln)
c.*1293T>G (n.*1293T>G)
c.108T>G (p.His36Gln)
c.2118T>G (p.His706Gln)
c.2142T>G (p.His714Gln)
c.2139T>G (p.His713Gln)
c.1107T>G (p.His369Gln)
c.1359T>G (p.His453Gln)
n.2115T>G
n.2172T>G
n.2135T>G
15g.42730657A>GCA7515818CDAN1c.2115T>C (p.His705=)
c.*1293T>C (n.*1293T>C)
c.108T>C (p.His36=)
c.2118T>C (p.His706=)
c.2142T>C (p.His714=)
c.2139T>C (p.His713=)
c.1107T>C (p.His369=)
c.1359T>C (p.His453=)
n.2115T>C
n.2172T>C
n.2135T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730657A>TCA392042295CDAN1c.2115T>A (p.His705Gln)
c.*1293T>A (n.*1293T>A)
c.108T>A (p.His36Gln)
c.2118T>A (p.His706Gln)
c.2142T>A (p.His714Gln)
c.2139T>A (p.His713Gln)
c.1107T>A (p.His369Gln)
c.1359T>A (p.His453Gln)
n.2115T>A
n.2172T>A
n.2135T>A
15g.42730658delCA2628073568CDAN1c.2114del (p.His705LeufsTer?)
c.*1292del (n.*1292del)
c.107del (p.His36LeufsTer?)
c.2117del (p.His706LeufsTer?)
c.2141del (p.His714LeufsTer?)
c.2138del (p.His713LeufsTer?)
c.1106del (p.His369LeufsTer?)
c.1358del (p.His453LeufsTer?)
n.2114del
n.2171del
n.2134del
 gnomAD v4
15g.42730658T>ACA392042296CDAN1c.2114A>T (p.His705Leu)
c.*1292A>T (n.*1292A>T)
c.107A>T (p.His36Leu)
c.2117A>T (p.His706Leu)
c.2141A>T (p.His714Leu)
c.2138A>T (p.His713Leu)
c.1106A>T (p.His369Leu)
c.1358A>T (p.His453Leu)
n.2114A>T
n.2171A>T
n.2134A>T
15g.42730658T>CCA392042297CDAN1c.2114A>G (p.His705Arg)
c.*1292A>G (n.*1292A>G)
c.107A>G (p.His36Arg)
c.2117A>G (p.His706Arg)
c.2141A>G (p.His714Arg)
c.2138A>G (p.His713Arg)
c.1106A>G (p.His369Arg)
c.1358A>G (p.His453Arg)
n.2114A>G
n.2171A>G
n.2134A>G
 dbSNP gnomAD v2 gnomAD v4
15g.42730658T>GCA392042298CDAN1c.2114A>C (p.His705Pro)
c.*1292A>C (n.*1292A>C)
c.107A>C (p.His36Pro)
c.2117A>C (p.His706Pro)
c.2141A>C (p.His714Pro)
c.2138A>C (p.His713Pro)
c.1106A>C (p.His369Pro)
c.1358A>C (p.His453Pro)
n.2114A>C
n.2171A>C
n.2134A>C
15g.42730658T=CA2172870106CDAN1c.2114A= (p.His705=)
c.*1292A= (n.*1292A=)
c.107A= (p.His36=)
c.2117A= (p.His706=)
c.2141A= (p.His714=)
c.2138A= (p.His713=)
c.1106A= (p.His369=)
c.1358A= (p.His453=)
n.2114A=
n.2171A=
n.2134A=
15g.42730659G>ACA392042307CDAN1c.2113C>T (p.His705Tyr)
c.*1291C>T (n.*1291C>T)
c.106C>T (p.His36Tyr)
c.2116C>T (p.His706Tyr)
c.2140C>T (p.His714Tyr)
c.2137C>T (p.His713Tyr)
c.1105C>T (p.His369Tyr)
c.1357C>T (p.His453Tyr)
n.2113C>T
n.2170C>T
n.2133C>T
 dbSNP gnomAD v4
15g.42730659G>CCA392042301CDAN1c.2113C>G (p.His705Asp)
c.*1291C>G (n.*1291C>G)
c.106C>G (p.His36Asp)
c.2116C>G (p.His706Asp)
c.2140C>G (p.His714Asp)
c.2137C>G (p.His713Asp)
c.1105C>G (p.His369Asp)
c.1357C>G (p.His453Asp)
n.2113C>G
n.2170C>G
n.2133C>G
15g.42730659G=CA2172870107CDAN1c.2113C= (p.His705=)
c.*1291C= (n.*1291C=)
c.106C= (p.His36=)
c.2116C= (p.His706=)
c.2140C= (p.His714=)
c.2137C= (p.His713=)
c.1105C= (p.His369=)
c.1357C= (p.His453=)
n.2113C=
n.2170C=
n.2133C=
15g.42730659G>TCA392042306CDAN1c.2113C>A (p.His705Asn)
c.*1291C>A (n.*1291C>A)
c.106C>A (p.His36Asn)
c.2116C>A (p.His706Asn)
c.2140C>A (p.His714Asn)
c.2137C>A (p.His713Asn)
c.1105C>A (p.His369Asn)
c.1357C>A (p.His453Asn)
n.2113C>A
n.2170C>A
n.2133C>A
15g.42730660G>ACA489895213CDAN1c.2112C>T (p.Asp704=)
c.*1290C>T (n.*1290C>T)
c.105C>T (p.Asp35=)
c.2115C>T (p.Asp705=)
c.2139C>T (p.Asp713=)
c.2136C>T (p.Asp712=)
c.1104C>T (p.Asp368=)
c.1356C>T (p.Asp452=)
n.2112C>T
n.2169C>T
n.2132C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42730660G>CCA392042309CDAN1c.2112C>G (p.Asp704Glu)
c.*1290C>G (n.*1290C>G)
c.105C>G (p.Asp35Glu)
c.2115C>G (p.Asp705Glu)
c.2139C>G (p.Asp713Glu)
c.2136C>G (p.Asp712Glu)
c.1104C>G (p.Asp368Glu)
c.1356C>G (p.Asp452Glu)
n.2112C>G
n.2169C>G
n.2132C>G
15g.42730660G=CA2172870108CDAN1c.2112C= (p.Asp704=)
c.*1290C= (n.*1290C=)
c.105C= (p.Asp35=)
c.2115C= (p.Asp705=)
c.2139C= (p.Asp713=)
c.2136C= (p.Asp712=)
c.1104C= (p.Asp368=)
c.1356C= (p.Asp452=)
n.2112C=
n.2169C=
n.2132C=
15g.42730660G>TCA392042312CDAN1c.2112C>A (p.Asp704Glu)
c.*1290C>A (n.*1290C>A)
c.105C>A (p.Asp35Glu)
c.2115C>A (p.Asp705Glu)
c.2139C>A (p.Asp713Glu)
c.2136C>A (p.Asp712Glu)
c.1104C>A (p.Asp368Glu)
c.1356C>A (p.Asp452Glu)
n.2112C>A
n.2169C>A
n.2132C>A
 dbSNP
15g.42730661T>ACA392042315CDAN1c.2111A>T (p.Asp704Val)
c.*1289A>T (n.*1289A>T)
c.104A>T (p.Asp35Val)
c.2114A>T (p.Asp705Val)
c.2138A>T (p.Asp713Val)
c.2135A>T (p.Asp712Val)
c.1103A>T (p.Asp368Val)
c.1355A>T (p.Asp452Val)
n.2111A>T
n.2168A>T
n.2131A>T
15g.42730661T>CCA392042325CDAN1c.2111A>G (p.Asp704Gly)
c.*1289A>G (n.*1289A>G)
c.104A>G (p.Asp35Gly)
c.2114A>G (p.Asp705Gly)
c.2138A>G (p.Asp713Gly)
c.2135A>G (p.Asp712Gly)
c.1103A>G (p.Asp368Gly)
c.1355A>G (p.Asp452Gly)
n.2111A>G
n.2168A>G
n.2131A>G
15g.42730661T>GCA392042327CDAN1c.2111A>C (p.Asp704Ala)
c.*1289A>C (n.*1289A>C)
c.104A>C (p.Asp35Ala)
c.2114A>C (p.Asp705Ala)
c.2138A>C (p.Asp713Ala)
c.2135A>C (p.Asp712Ala)
c.1103A>C (p.Asp368Ala)
c.1355A>C (p.Asp452Ala)
n.2111A>C
n.2168A>C
n.2131A>C
 dbSNP gnomAD v2 gnomAD v4
15g.42730661T=CA2172870109CDAN1c.2111A= (p.Asp704=)
c.*1289A= (n.*1289A=)
c.104A= (p.Asp35=)
c.2114A= (p.Asp705=)
c.2138A= (p.Asp713=)
c.2135A= (p.Asp712=)
c.1103A= (p.Asp368=)
c.1355A= (p.Asp452=)
n.2111A=
n.2168A=
n.2131A=
15g.42730662C>ACA392042330CDAN1c.2110G>T (p.Asp704Tyr)
c.*1288G>T (n.*1288G>T)
c.103G>T (p.Asp35Tyr)
c.2113G>T (p.Asp705Tyr)
c.2137G>T (p.Asp713Tyr)
c.2134G>T (p.Asp712Tyr)
c.1102G>T (p.Asp368Tyr)
c.1354G>T (p.Asp452Tyr)
n.2110G>T
n.2167G>T
n.2130G>T
15g.42730662C=CA2172870110CDAN1c.2110G= (p.Asp704=)
c.*1288G= (n.*1288G=)
c.103G= (p.Asp35=)
c.2113G= (p.Asp705=)
c.2137G= (p.Asp713=)
c.2134G= (p.Asp712=)
c.1102G= (p.Asp368=)
c.1354G= (p.Asp452=)
n.2110G=
n.2167G=
n.2130G=
15g.42730662C>GCA392042332CDAN1c.2110G>C (p.Asp704His)
c.*1288G>C (n.*1288G>C)
c.103G>C (p.Asp35His)
c.2113G>C (p.Asp705His)
c.2137G>C (p.Asp713His)
c.2134G>C (p.Asp712His)
c.1102G>C (p.Asp368His)
c.1354G>C (p.Asp452His)
n.2110G>C
n.2167G>C
n.2130G>C
 dbSNP gnomAD v3 gnomAD v4
15g.42730662C>TCA392042331CDAN1c.2110G>A (p.Asp704Asn)
c.*1288G>A (n.*1288G>A)
c.103G>A (p.Asp35Asn)
c.2113G>A (p.Asp705Asn)
c.2137G>A (p.Asp713Asn)
c.2134G>A (p.Asp712Asn)
c.1102G>A (p.Asp368Asn)
c.1354G>A (p.Asp452Asn)
n.2110G>A
n.2167G>A
n.2130G>A
 ClinVar dbSNP
15g.42730663A>CCA489895214CDAN1c.2109T>G (p.Ala703=)
c.*1287T>G (n.*1287T>G)
c.102T>G (p.Ala34=)
c.2112T>G (p.Ala704=)
c.2136T>G (p.Ala712=)
c.2133T>G (p.Ala711=)
c.1101T>G (p.Ala367=)
c.1353T>G (p.Ala451=)
n.2109T>G
n.2166T>G
n.2129T>G
15g.42730663A>GCA489895215CDAN1c.2109T>C (p.Ala703=)
c.*1287T>C (n.*1287T>C)
c.102T>C (p.Ala34=)
c.2112T>C (p.Ala704=)
c.2136T>C (p.Ala712=)
c.2133T>C (p.Ala711=)
c.1101T>C (p.Ala367=)
c.1353T>C (p.Ala451=)
n.2109T>C
n.2166T>C
n.2129T>C
15g.42730663A>TCA489895216CDAN1c.2109T>A (p.Ala703=)
c.*1287T>A (n.*1287T>A)
c.102T>A (p.Ala34=)
c.2112T>A (p.Ala704=)
c.2136T>A (p.Ala712=)
c.2133T>A (p.Ala711=)
c.1101T>A (p.Ala367=)
c.1353T>A (p.Ala451=)
n.2109T>A
n.2166T>A
n.2129T>A
15g.42730664G>ACA392042334CDAN1c.2108C>T (p.Ala703Val)
c.*1286C>T (n.*1286C>T)
c.101C>T (p.Ala34Val)
c.2111C>T (p.Ala704Val)
c.2135C>T (p.Ala712Val)
c.2132C>T (p.Ala711Val)
c.1100C>T (p.Ala367Val)
c.1352C>T (p.Ala451Val)
n.2108C>T
n.2165C>T
n.2128C>T
 COSMIC
15g.42730664G>CCA392042336CDAN1c.2108C>G (p.Ala703Gly)
c.*1286C>G (n.*1286C>G)
c.101C>G (p.Ala34Gly)
c.2111C>G (p.Ala704Gly)
c.2135C>G (p.Ala712Gly)
c.2132C>G (p.Ala711Gly)
c.1100C>G (p.Ala367Gly)
c.1352C>G (p.Ala451Gly)
n.2108C>G
n.2165C>G
n.2128C>G
15g.42730664G>TCA392042337CDAN1c.2108C>A (p.Ala703Asp)
c.*1286C>A (n.*1286C>A)
c.101C>A (p.Ala34Asp)
c.2111C>A (p.Ala704Asp)
c.2135C>A (p.Ala712Asp)
c.2132C>A (p.Ala711Asp)
c.1100C>A (p.Ala367Asp)
c.1352C>A (p.Ala451Asp)
n.2108C>A
n.2165C>A
n.2128C>A
15g.42730665C>ACA392042340CDAN1c.2107G>T (p.Ala703Ser)
c.*1285G>T (n.*1285G>T)
c.100G>T (p.Ala34Ser)
c.2110G>T (p.Ala704Ser)
c.2134G>T (p.Ala712Ser)
c.2131G>T (p.Ala711Ser)
c.1099G>T (p.Ala367Ser)
c.1351G>T (p.Ala451Ser)
n.2107G>T
n.2164G>T
n.2127G>T
15g.42730665C>GCA392042341CDAN1c.2107G>C (p.Ala703Pro)
c.*1285G>C (n.*1285G>C)
c.100G>C (p.Ala34Pro)
c.2110G>C (p.Ala704Pro)
c.2134G>C (p.Ala712Pro)
c.2131G>C (p.Ala711Pro)
c.1099G>C (p.Ala367Pro)
c.1351G>C (p.Ala451Pro)
n.2107G>C
n.2164G>C
n.2127G>C
15g.42730665C>TCA392042343CDAN1c.2107G>A (p.Ala703Thr)
c.*1285G>A (n.*1285G>A)
c.100G>A (p.Ala34Thr)
c.2110G>A (p.Ala704Thr)
c.2134G>A (p.Ala712Thr)
c.2131G>A (p.Ala711Thr)
c.1099G>A (p.Ala367Thr)
c.1351G>A (p.Ala451Thr)
n.2107G>A
n.2164G>A
n.2127G>A
15g.42730666A>CCA392042344CDAN1c.2106T>G (p.Phe702Leu)
c.*1284T>G (n.*1284T>G)
c.99T>G (p.Phe33Leu)
c.2109T>G (p.Phe703Leu)
c.2133T>G (p.Phe711Leu)
c.2130T>G (p.Phe710Leu)
c.1098T>G (p.Phe366Leu)
c.1350T>G (p.Phe450Leu)
n.2106T>G
n.2163T>G
n.2126T>G
15g.42730666A>GCA489895217CDAN1c.2106T>C (p.Phe702=)
c.*1284T>C (n.*1284T>C)
c.99T>C (p.Phe33=)
c.2109T>C (p.Phe703=)
c.2133T>C (p.Phe711=)
c.2130T>C (p.Phe710=)
c.1098T>C (p.Phe366=)
c.1350T>C (p.Phe450=)
n.2106T>C
n.2163T>C
n.2126T>C
 gnomAD v4
15g.42730666A>TCA392042345CDAN1c.2106T>A (p.Phe702Leu)
c.*1284T>A (n.*1284T>A)
c.99T>A (p.Phe33Leu)
c.2109T>A (p.Phe703Leu)
c.2133T>A (p.Phe711Leu)
c.2130T>A (p.Phe710Leu)
c.1098T>A (p.Phe366Leu)
c.1350T>A (p.Phe450Leu)
n.2106T>A
n.2163T>A
n.2126T>A
15g.42730667A>CCA392042348CDAN1c.2105T>G (p.Phe702Cys)
c.*1283T>G (n.*1283T>G)
c.98T>G (p.Phe33Cys)
c.2108T>G (p.Phe703Cys)
c.2132T>G (p.Phe711Cys)
c.2129T>G (p.Phe710Cys)
c.1097T>G (p.Phe366Cys)
c.1349T>G (p.Phe450Cys)
n.2105T>G
n.2162T>G
n.2125T>G
15g.42730667A>GCA392042349CDAN1c.2105T>C (p.Phe702Ser)
c.*1283T>C (n.*1283T>C)
c.98T>C (p.Phe33Ser)
c.2108T>C (p.Phe703Ser)
c.2132T>C (p.Phe711Ser)
c.2129T>C (p.Phe710Ser)
c.1097T>C (p.Phe366Ser)
c.1349T>C (p.Phe450Ser)
n.2105T>C
n.2162T>C
n.2125T>C
15g.42730667A>TCA392042352CDAN1c.2105T>A (p.Phe702Tyr)
c.*1283T>A (n.*1283T>A)
c.98T>A (p.Phe33Tyr)
c.2108T>A (p.Phe703Tyr)
c.2132T>A (p.Phe711Tyr)
c.2129T>A (p.Phe710Tyr)
c.1097T>A (p.Phe366Tyr)
c.1349T>A (p.Phe450Tyr)
n.2105T>A
n.2162T>A
n.2125T>A
15g.42730668A>CCA392042360CDAN1c.2104T>G (p.Phe702Val)
c.*1282T>G (n.*1282T>G)
c.97T>G (p.Phe33Val)
c.2107T>G (p.Phe703Val)
c.2131T>G (p.Phe711Val)
c.2128T>G (p.Phe710Val)
c.1096T>G (p.Phe366Val)
c.1348T>G (p.Phe450Val)
n.2104T>G
n.2161T>G
n.2124T>G
15g.42730668A>GCA392042354CDAN1c.2104T>C (p.Phe702Leu)
c.*1282T>C (n.*1282T>C)
c.97T>C (p.Phe33Leu)
c.2107T>C (p.Phe703Leu)
c.2131T>C (p.Phe711Leu)
c.2128T>C (p.Phe710Leu)
c.1096T>C (p.Phe366Leu)
c.1348T>C (p.Phe450Leu)
n.2104T>C
n.2161T>C
n.2124T>C
15g.42730668A>TCA392042357CDAN1c.2104T>A (p.Phe702Ile)
c.*1282T>A (n.*1282T>A)
c.97T>A (p.Phe33Ile)
c.2107T>A (p.Phe703Ile)
c.2131T>A (p.Phe711Ile)
c.2128T>A (p.Phe710Ile)
c.1096T>A (p.Phe366Ile)
c.1348T>A (p.Phe450Ile)
n.2104T>A
n.2161T>A
n.2124T>A
15g.42730669G>ACA7515819CDAN1c.2103C>T (p.Ser701=)
c.*1281C>T (n.*1281C>T)
c.96C>T (p.Ser32=)
c.2106C>T (p.Ser702=)
c.2130C>T (p.Ser710=)
c.2127C>T (p.Ser709=)
c.1095C>T (p.Ser365=)
c.1347C>T (p.Ser449=)
n.2103C>T
n.2160C>T
n.2123C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42730669G>CCA489895218CDAN1c.2103C>G (p.Ser701=)
c.*1281C>G (n.*1281C>G)
c.96C>G (p.Ser32=)
c.2106C>G (p.Ser702=)
c.2130C>G (p.Ser710=)
c.2127C>G (p.Ser709=)
c.1095C>G (p.Ser365=)
c.1347C>G (p.Ser449=)
n.2103C>G
n.2160C>G
n.2123C>G
15g.42730669G=CA2172870111CDAN1c.2103C= (p.Ser701=)
c.*1281C= (n.*1281C=)
c.96C= (p.Ser32=)
c.2106C= (p.Ser702=)
c.2130C= (p.Ser710=)
c.2127C= (p.Ser709=)
c.1095C= (p.Ser365=)
c.1347C= (p.Ser449=)
n.2103C=
n.2160C=
n.2123C=
15g.42730669G>TCA489895219CDAN1c.2103C>A (p.Ser701=)
c.*1281C>A (n.*1281C>A)
c.96C>A (p.Ser32=)
c.2106C>A (p.Ser702=)
c.2130C>A (p.Ser710=)
c.2127C>A (p.Ser709=)
c.1095C>A (p.Ser365=)
c.1347C>A (p.Ser449=)
n.2103C>A
n.2160C>A
n.2123C>A
15g.42730670G>ACA392042367CDAN1c.2102C>T (p.Ser701Phe)
c.*1280C>T (n.*1280C>T)
c.95C>T (p.Ser32Phe)
c.2105C>T (p.Ser702Phe)
c.2129C>T (p.Ser710Phe)
c.2126C>T (p.Ser709Phe)
c.1094C>T (p.Ser365Phe)
c.1346C>T (p.Ser449Phe)
n.2102C>T
n.2159C>T
n.2122C>T
 dbSNP gnomAD v4
15g.42730670G>CCA392042365CDAN1c.2102C>G (p.Ser701Cys)
c.*1280C>G (n.*1280C>G)
c.95C>G (p.Ser32Cys)
c.2105C>G (p.Ser702Cys)
c.2129C>G (p.Ser710Cys)
c.2126C>G (p.Ser709Cys)
c.1094C>G (p.Ser365Cys)
c.1346C>G (p.Ser449Cys)
n.2102C>G
n.2159C>G
n.2122C>G
 dbSNP gnomAD v2 gnomAD v4
15g.42730670G=CA2172870112CDAN1c.2102C= (p.Ser701=)
c.*1280C= (n.*1280C=)
c.95C= (p.Ser32=)
c.2105C= (p.Ser702=)
c.2129C= (p.Ser710=)
c.2126C= (p.Ser709=)
c.1094C= (p.Ser365=)
c.1346C= (p.Ser449=)
n.2102C=
n.2159C=
n.2122C=
15g.42730670G>TCA392042370CDAN1c.2102C>A (p.Ser701Tyr)
c.*1280C>A (n.*1280C>A)
c.95C>A (p.Ser32Tyr)
c.2105C>A (p.Ser702Tyr)
c.2129C>A (p.Ser710Tyr)
c.2126C>A (p.Ser709Tyr)
c.1094C>A (p.Ser365Tyr)
c.1346C>A (p.Ser449Tyr)
n.2102C>A
n.2159C>A
n.2122C>A
15g.42730672_42730675delCA2628073581CDAN1c.2099_2102del (p.Leu700ProfsTer?)
c.*1277_*1280del (n.*1277_*1280del)
c.92_95del (p.Leu31ProfsTer?)
c.2102_2105del (p.Leu701ProfsTer?)
c.2126_2129del (p.Leu709ProfsTer?)
c.2123_2126del (p.Leu708ProfsTer?)
c.1091_1094del (p.Leu364ProfsTer?)
c.1343_1346del (p.Leu448ProfsTer?)
n.2099_2102del
n.2156_2159del
n.2119_2122del
 gnomAD v4

Number of alleles fetched