Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.28141696C=CA2166480039HERC2c.11816+35G= (n.11816+35G=)
c.3527+35G= (n.3527+35G=)
c.11702+35G= (n.11702+35G=)
c.11801+35G= (n.11801+35G=)
c.11558+35G= (n.11558+35G=)
c.11333+35G= (n.11333+35G=)
c.9332+35G= (n.9332+35G=)
c.8561+35G= (n.8561+35G=)
c.5933+35G= (n.5933+35G=)
c.4982+35G= (n.4982+35G=)
15g.28141696C>GCA617086350HERC2c.11816+35G>C (n.11816+35G>C)
c.3527+35G>C (n.3527+35G>C)
c.11702+35G>C (n.11702+35G>C)
c.11801+35G>C (n.11801+35G>C)
c.11558+35G>C (n.11558+35G>C)
c.11333+35G>C (n.11333+35G>C)
c.9332+35G>C (n.9332+35G>C)
c.8561+35G>C (n.8561+35G>C)
c.5933+35G>C (n.5933+35G>C)
c.4982+35G>C (n.4982+35G>C)
 dbSNP gnomAD v2 gnomAD v4
15g.28141696C>TCA617086351HERC2c.11816+35G>A (n.11816+35G>A)
c.3527+35G>A (n.3527+35G>A)
c.11702+35G>A (n.11702+35G>A)
c.11801+35G>A (n.11801+35G>A)
c.11558+35G>A (n.11558+35G>A)
c.11333+35G>A (n.11333+35G>A)
c.9332+35G>A (n.9332+35G>A)
c.8561+35G>A (n.8561+35G>A)
c.5933+35G>A (n.5933+35G>A)
c.4982+35G>A (n.4982+35G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141697G>ACA7440459HERC2c.11816+34C>T (n.11816+34C>T)
c.3527+34C>T (n.3527+34C>T)
c.11702+34C>T (n.11702+34C>T)
c.11801+34C>T (n.11801+34C>T)
c.11558+34C>T (n.11558+34C>T)
c.11333+34C>T (n.11333+34C>T)
c.9332+34C>T (n.9332+34C>T)
c.8561+34C>T (n.8561+34C>T)
c.5933+34C>T (n.5933+34C>T)
c.4982+34C>T (n.4982+34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141697G=CA2166480040HERC2c.11816+34C= (n.11816+34C=)
c.3527+34C= (n.3527+34C=)
c.11702+34C= (n.11702+34C=)
c.11801+34C= (n.11801+34C=)
c.11558+34C= (n.11558+34C=)
c.11333+34C= (n.11333+34C=)
c.9332+34C= (n.9332+34C=)
c.8561+34C= (n.8561+34C=)
c.5933+34C= (n.5933+34C=)
c.4982+34C= (n.4982+34C=)
15g.28141697G>TCA2627386267HERC2c.11816+34C>A (n.11816+34C>A)
c.3527+34C>A (n.3527+34C>A)
c.11702+34C>A (n.11702+34C>A)
c.11801+34C>A (n.11801+34C>A)
c.11558+34C>A (n.11558+34C>A)
c.11333+34C>A (n.11333+34C>A)
c.9332+34C>A (n.9332+34C>A)
c.8561+34C>A (n.8561+34C>A)
c.5933+34C>A (n.5933+34C>A)
c.4982+34C>A (n.4982+34C>A)
 gnomAD v4
15g.28141698A=CA2166480042HERC2c.11816+33T= (n.11816+33T=)
c.3527+33T= (n.3527+33T=)
c.11702+33T= (n.11702+33T=)
c.11801+33T= (n.11801+33T=)
c.11558+33T= (n.11558+33T=)
c.11333+33T= (n.11333+33T=)
c.9332+33T= (n.9332+33T=)
c.8561+33T= (n.8561+33T=)
c.5933+33T= (n.5933+33T=)
c.4982+33T= (n.4982+33T=)
15g.28141698A>GCA617086352HERC2c.11816+33T>C (n.11816+33T>C)
c.3527+33T>C (n.3527+33T>C)
c.11702+33T>C (n.11702+33T>C)
c.11801+33T>C (n.11801+33T>C)
c.11558+33T>C (n.11558+33T>C)
c.11333+33T>C (n.11333+33T>C)
c.9332+33T>C (n.9332+33T>C)
c.8561+33T>C (n.8561+33T>C)
c.5933+33T>C (n.5933+33T>C)
c.4982+33T>C (n.4982+33T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141698A>TCA711722837HERC2c.11816+33T>A (n.11816+33T>A)
c.3527+33T>A (n.3527+33T>A)
c.11702+33T>A (n.11702+33T>A)
c.11801+33T>A (n.11801+33T>A)
c.11558+33T>A (n.11558+33T>A)
c.11333+33T>A (n.11333+33T>A)
c.9332+33T>A (n.9332+33T>A)
c.8561+33T>A (n.8561+33T>A)
c.5933+33T>A (n.5933+33T>A)
c.4982+33T>A (n.4982+33T>A)
 dbSNP
15g.28141700C>ACA7440461HERC2c.11816+31G>T (n.11816+31G>T)
c.3527+31G>T (n.3527+31G>T)
c.11702+31G>T (n.11702+31G>T)
c.11801+31G>T (n.11801+31G>T)
c.11558+31G>T (n.11558+31G>T)
c.11333+31G>T (n.11333+31G>T)
c.9332+31G>T (n.9332+31G>T)
c.8561+31G>T (n.8561+31G>T)
c.5933+31G>T (n.5933+31G>T)
c.4982+31G>T (n.4982+31G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141700C=CA2166480044HERC2c.11816+31G= (n.11816+31G=)
c.3527+31G= (n.3527+31G=)
c.11702+31G= (n.11702+31G=)
c.11801+31G= (n.11801+31G=)
c.11558+31G= (n.11558+31G=)
c.11333+31G= (n.11333+31G=)
c.9332+31G= (n.9332+31G=)
c.8561+31G= (n.8561+31G=)
c.5933+31G= (n.5933+31G=)
c.4982+31G= (n.4982+31G=)
15g.28141700C>GCA2166480046HERC2c.11816+31G>C (n.11816+31G>C)
c.3527+31G>C (n.3527+31G>C)
c.11702+31G>C (n.11702+31G>C)
c.11801+31G>C (n.11801+31G>C)
c.11558+31G>C (n.11558+31G>C)
c.11333+31G>C (n.11333+31G>C)
c.9332+31G>C (n.9332+31G>C)
c.8561+31G>C (n.8561+31G>C)
c.5933+31G>C (n.5933+31G>C)
c.4982+31G>C (n.4982+31G>C)
 dbSNP gnomAD v4
15g.28141700C>TCA7440460HERC2c.11816+31G>A (n.11816+31G>A)
c.3527+31G>A (n.3527+31G>A)
c.11702+31G>A (n.11702+31G>A)
c.11801+31G>A (n.11801+31G>A)
c.11558+31G>A (n.11558+31G>A)
c.11333+31G>A (n.11333+31G>A)
c.9332+31G>A (n.9332+31G>A)
c.8561+31G>A (n.8561+31G>A)
c.5933+31G>A (n.5933+31G>A)
c.4982+31G>A (n.4982+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141701G>ACA7440462HERC2c.11816+30C>T (n.11816+30C>T)
c.3527+30C>T (n.3527+30C>T)
c.11702+30C>T (n.11702+30C>T)
c.11801+30C>T (n.11801+30C>T)
c.11558+30C>T (n.11558+30C>T)
c.11333+30C>T (n.11333+30C>T)
c.9332+30C>T (n.9332+30C>T)
c.8561+30C>T (n.8561+30C>T)
c.5933+30C>T (n.5933+30C>T)
c.4982+30C>T (n.4982+30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141701G=CA2166480047HERC2c.11816+30C= (n.11816+30C=)
c.3527+30C= (n.3527+30C=)
c.11702+30C= (n.11702+30C=)
c.11801+30C= (n.11801+30C=)
c.11558+30C= (n.11558+30C=)
c.11333+30C= (n.11333+30C=)
c.9332+30C= (n.9332+30C=)
c.8561+30C= (n.8561+30C=)
c.5933+30C= (n.5933+30C=)
c.4982+30C= (n.4982+30C=)
15g.28141703C>ACA2575653894HERC2c.11816+28G>T (n.11816+28G>T)
c.3527+28G>T (n.3527+28G>T)
c.11702+28G>T (n.11702+28G>T)
c.11801+28G>T (n.11801+28G>T)
c.11558+28G>T (n.11558+28G>T)
c.11333+28G>T (n.11333+28G>T)
c.9332+28G>T (n.9332+28G>T)
c.8561+28G>T (n.8561+28G>T)
c.5933+28G>T (n.5933+28G>T)
c.4982+28G>T (n.4982+28G>T)
15g.28141703C=CA2166480048HERC2c.11816+28G= (n.11816+28G=)
c.3527+28G= (n.3527+28G=)
c.11702+28G= (n.11702+28G=)
c.11801+28G= (n.11801+28G=)
c.11558+28G= (n.11558+28G=)
c.11333+28G= (n.11333+28G=)
c.9332+28G= (n.9332+28G=)
c.8561+28G= (n.8561+28G=)
c.5933+28G= (n.5933+28G=)
c.4982+28G= (n.4982+28G=)
15g.28141703C>GCA617086353HERC2c.11816+28G>C (n.11816+28G>C)
c.3527+28G>C (n.3527+28G>C)
c.11702+28G>C (n.11702+28G>C)
c.11801+28G>C (n.11801+28G>C)
c.11558+28G>C (n.11558+28G>C)
c.11333+28G>C (n.11333+28G>C)
c.9332+28G>C (n.9332+28G>C)
c.8561+28G>C (n.8561+28G>C)
c.5933+28G>C (n.5933+28G>C)
c.4982+28G>C (n.4982+28G>C)
 dbSNP gnomAD v2
15g.28141703C>TCA2627386268HERC2c.11816+28G>A (n.11816+28G>A)
c.3527+28G>A (n.3527+28G>A)
c.11702+28G>A (n.11702+28G>A)
c.11801+28G>A (n.11801+28G>A)
c.11558+28G>A (n.11558+28G>A)
c.11333+28G>A (n.11333+28G>A)
c.9332+28G>A (n.9332+28G>A)
c.8561+28G>A (n.8561+28G>A)
c.5933+28G>A (n.5933+28G>A)
c.4982+28G>A (n.4982+28G>A)
 gnomAD v4
15g.28141704A=CA2166480049HERC2c.11816+27T= (n.11816+27T=)
c.3527+27T= (n.3527+27T=)
c.11702+27T= (n.11702+27T=)
c.11801+27T= (n.11801+27T=)
c.11558+27T= (n.11558+27T=)
c.11333+27T= (n.11333+27T=)
c.9332+27T= (n.9332+27T=)
c.8561+27T= (n.8561+27T=)
c.5933+27T= (n.5933+27T=)
c.4982+27T= (n.4982+27T=)
15g.28141704A>TCA7440463HERC2c.11816+27T>A (n.11816+27T>A)
c.3527+27T>A (n.3527+27T>A)
c.11702+27T>A (n.11702+27T>A)
c.11801+27T>A (n.11801+27T>A)
c.11558+27T>A (n.11558+27T>A)
c.11333+27T>A (n.11333+27T>A)
c.9332+27T>A (n.9332+27T>A)
c.8561+27T>A (n.8561+27T>A)
c.5933+27T>A (n.5933+27T>A)
c.4982+27T>A (n.4982+27T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141705T>CCA2803510927HERC2c.11816+26A>G (n.11816+26A>G)
c.3527+26A>G (n.3527+26A>G)
c.11702+26A>G (n.11702+26A>G)
c.11801+26A>G (n.11801+26A>G)
c.11558+26A>G (n.11558+26A>G)
c.11333+26A>G (n.11333+26A>G)
c.9332+26A>G (n.9332+26A>G)
c.8561+26A>G (n.8561+26A>G)
c.5933+26A>G (n.5933+26A>G)
c.4982+26A>G (n.4982+26A>G)
15g.28141708C>TCA2627386269HERC2c.11816+23G>A (n.11816+23G>A)
c.3527+23G>A (n.3527+23G>A)
c.11702+23G>A (n.11702+23G>A)
c.11801+23G>A (n.11801+23G>A)
c.11558+23G>A (n.11558+23G>A)
c.11333+23G>A (n.11333+23G>A)
c.9332+23G>A (n.9332+23G>A)
c.8561+23G>A (n.8561+23G>A)
c.5933+23G>A (n.5933+23G>A)
c.4982+23G>A (n.4982+23G>A)
 gnomAD v4
15g.28141709T>GCA2627386270HERC2c.11816+22A>C (n.11816+22A>C)
c.3527+22A>C (n.3527+22A>C)
c.11702+22A>C (n.11702+22A>C)
c.11801+22A>C (n.11801+22A>C)
c.11558+22A>C (n.11558+22A>C)
c.11333+22A>C (n.11333+22A>C)
c.9332+22A>C (n.9332+22A>C)
c.8561+22A>C (n.8561+22A>C)
c.5933+22A>C (n.5933+22A>C)
c.4982+22A>C (n.4982+22A>C)
 gnomAD v4
15g.28141710G>CCA2627386271HERC2c.11816+21C>G (n.11816+21C>G)
c.3527+21C>G (n.3527+21C>G)
c.11702+21C>G (n.11702+21C>G)
c.11801+21C>G (n.11801+21C>G)
c.11558+21C>G (n.11558+21C>G)
c.11333+21C>G (n.11333+21C>G)
c.9332+21C>G (n.9332+21C>G)
c.8561+21C>G (n.8561+21C>G)
c.5933+21C>G (n.5933+21C>G)
c.4982+21C>G (n.4982+21C>G)
 gnomAD v4
15g.28141713T>CCA2627386272HERC2c.11816+18A>G (n.11816+18A>G)
c.3527+18A>G (n.3527+18A>G)
c.11702+18A>G (n.11702+18A>G)
c.11801+18A>G (n.11801+18A>G)
c.11558+18A>G (n.11558+18A>G)
c.11333+18A>G (n.11333+18A>G)
c.9332+18A>G (n.9332+18A>G)
c.8561+18A>G (n.8561+18A>G)
c.5933+18A>G (n.5933+18A>G)
c.4982+18A>G (n.4982+18A>G)
 gnomAD v4
15g.28141714G>ACA7440464HERC2c.11816+17C>T (n.11816+17C>T)
c.3527+17C>T (n.3527+17C>T)
c.11702+17C>T (n.11702+17C>T)
c.11801+17C>T (n.11801+17C>T)
c.11558+17C>T (n.11558+17C>T)
c.11333+17C>T (n.11333+17C>T)
c.9332+17C>T (n.9332+17C>T)
c.8561+17C>T (n.8561+17C>T)
c.5933+17C>T (n.5933+17C>T)
c.4982+17C>T (n.4982+17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141714G>CCA2166480051HERC2c.11816+17C>G (n.11816+17C>G)
c.3527+17C>G (n.3527+17C>G)
c.11702+17C>G (n.11702+17C>G)
c.11801+17C>G (n.11801+17C>G)
c.11558+17C>G (n.11558+17C>G)
c.11333+17C>G (n.11333+17C>G)
c.9332+17C>G (n.9332+17C>G)
c.8561+17C>G (n.8561+17C>G)
c.5933+17C>G (n.5933+17C>G)
c.4982+17C>G (n.4982+17C>G)
 dbSNP gnomAD v4
15g.28141714G=CA2166480050HERC2c.11816+17C= (n.11816+17C=)
c.3527+17C= (n.3527+17C=)
c.11702+17C= (n.11702+17C=)
c.11801+17C= (n.11801+17C=)
c.11558+17C= (n.11558+17C=)
c.11333+17C= (n.11333+17C=)
c.9332+17C= (n.9332+17C=)
c.8561+17C= (n.8561+17C=)
c.5933+17C= (n.5933+17C=)
c.4982+17C= (n.4982+17C=)
15g.28141716T>GCA7440465HERC2c.11816+15A>C (n.11816+15A>C)
c.3527+15A>C (n.3527+15A>C)
c.11702+15A>C (n.11702+15A>C)
c.11801+15A>C (n.11801+15A>C)
c.11558+15A>C (n.11558+15A>C)
c.11333+15A>C (n.11333+15A>C)
c.9332+15A>C (n.9332+15A>C)
c.8561+15A>C (n.8561+15A>C)
c.5933+15A>C (n.5933+15A>C)
c.4982+15A>C (n.4982+15A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141716T=CA2166480053HERC2c.11816+15A= (n.11816+15A=)
c.3527+15A= (n.3527+15A=)
c.11702+15A= (n.11702+15A=)
c.11801+15A= (n.11801+15A=)
c.11558+15A= (n.11558+15A=)
c.11333+15A= (n.11333+15A=)
c.9332+15A= (n.9332+15A=)
c.8561+15A= (n.8561+15A=)
c.5933+15A= (n.5933+15A=)
c.4982+15A= (n.4982+15A=)
15g.28141717T>CCA2627386273HERC2c.11816+14A>G (n.11816+14A>G)
c.3527+14A>G (n.3527+14A>G)
c.11702+14A>G (n.11702+14A>G)
c.11801+14A>G (n.11801+14A>G)
c.11558+14A>G (n.11558+14A>G)
c.11333+14A>G (n.11333+14A>G)
c.9332+14A>G (n.9332+14A>G)
c.8561+14A>G (n.8561+14A>G)
c.5933+14A>G (n.5933+14A>G)
c.4982+14A>G (n.4982+14A>G)
 gnomAD v4
15g.28141718_28141723delinsCTAATACA2166480054HERC2c.11816+8_11816+13delinsTATTAG (n.11816+8_11816+13delinsTATTAG)
c.3527+8_3527+13delinsTATTAG (n.3527+8_3527+13delinsTATTAG)
c.11702+8_11702+13delinsTATTAG (n.11702+8_11702+13delinsTATTAG)
c.11801+8_11801+13delinsTATTAG (n.11801+8_11801+13delinsTATTAG)
c.11558+8_11558+13delinsTATTAG (n.11558+8_11558+13delinsTATTAG)
c.11333+8_11333+13delinsTATTAG (n.11333+8_11333+13delinsTATTAG)
c.9332+8_9332+13delinsTATTAG (n.9332+8_9332+13delinsTATTAG)
c.8561+8_8561+13delinsTATTAG (n.8561+8_8561+13delinsTATTAG)
c.5933+8_5933+13delinsTATTAG (n.5933+8_5933+13delinsTATTAG)
c.4982+8_4982+13delinsTATTAG (n.4982+8_4982+13delinsTATTAG)
15g.28141719T>GCA2166480058HERC2c.11816+12A>C (n.11816+12A>C)
c.3527+12A>C (n.3527+12A>C)
c.11702+12A>C (n.11702+12A>C)
c.11801+12A>C (n.11801+12A>C)
c.11558+12A>C (n.11558+12A>C)
c.11333+12A>C (n.11333+12A>C)
c.9332+12A>C (n.9332+12A>C)
c.8561+12A>C (n.8561+12A>C)
c.5933+12A>C (n.5933+12A>C)
c.4982+12A>C (n.4982+12A>C)
 dbSNP gnomAD v4
15g.28141719T=CA2166480057HERC2c.11816+12A= (n.11816+12A=)
c.3527+12A= (n.3527+12A=)
c.11702+12A= (n.11702+12A=)
c.11801+12A= (n.11801+12A=)
c.11558+12A= (n.11558+12A=)
c.11333+12A= (n.11333+12A=)
c.9332+12A= (n.9332+12A=)
c.8561+12A= (n.8561+12A=)
c.5933+12A= (n.5933+12A=)
c.4982+12A= (n.4982+12A=)
15g.28141724_28141728delCA2166480056HERC2c.11816+8_11816+12del (n.11816+8_11816+12del)
c.3527+8_3527+12del (n.3527+8_3527+12del)
c.11702+8_11702+12del (n.11702+8_11702+12del)
c.11801+8_11801+12del (n.11801+8_11801+12del)
c.11558+8_11558+12del (n.11558+8_11558+12del)
c.11333+8_11333+12del (n.11333+8_11333+12del)
c.9332+8_9332+12del (n.9332+8_9332+12del)
c.8561+8_8561+12del (n.8561+8_8561+12del)
c.5933+8_5933+12del (n.5933+8_5933+12del)
c.4982+8_4982+12del (n.4982+8_4982+12del)
 dbSNP
15g.28141720A>GCA2627386274HERC2c.11816+11T>C (n.11816+11T>C)
c.3527+11T>C (n.3527+11T>C)
c.11702+11T>C (n.11702+11T>C)
c.11801+11T>C (n.11801+11T>C)
c.11558+11T>C (n.11558+11T>C)
c.11333+11T>C (n.11333+11T>C)
c.9332+11T>C (n.9332+11T>C)
c.8561+11T>C (n.8561+11T>C)
c.5933+11T>C (n.5933+11T>C)
c.4982+11T>C (n.4982+11T>C)
 gnomAD v4
15g.28141721dupCA7440466HERC2c.11816+11dup (n.11816+11dup)
c.3527+11dup (n.3527+11dup)
c.11702+11dup (n.11702+11dup)
c.11801+11dup (n.11801+11dup)
c.11558+11dup (n.11558+11dup)
c.11333+11dup (n.11333+11dup)
c.9332+11dup (n.9332+11dup)
c.8561+11dup (n.8561+11dup)
c.5933+11dup (n.5933+11dup)
c.4982+11dup (n.4982+11dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141722T>CCA267946333HERC2c.11816+9A>G (n.11816+9A>G)
c.3527+9A>G (n.3527+9A>G)
c.11702+9A>G (n.11702+9A>G)
c.11801+9A>G (n.11801+9A>G)
c.11558+9A>G (n.11558+9A>G)
c.11333+9A>G (n.11333+9A>G)
c.9332+9A>G (n.9332+9A>G)
c.8561+9A>G (n.8561+9A>G)
c.5933+9A>G (n.5933+9A>G)
c.4982+9A>G (n.4982+9A>G)
 dbSNP gnomAD v4
15g.28141722T=CA2166480060HERC2c.11816+9A= (n.11816+9A=)
c.3527+9A= (n.3527+9A=)
c.11702+9A= (n.11702+9A=)
c.11801+9A= (n.11801+9A=)
c.11558+9A= (n.11558+9A=)
c.11333+9A= (n.11333+9A=)
c.9332+9A= (n.9332+9A=)
c.8561+9A= (n.8561+9A=)
c.5933+9A= (n.5933+9A=)
c.4982+9A= (n.4982+9A=)
15g.28141723A=CA2166480062HERC2c.11816+8T= (n.11816+8T=)
c.3527+8T= (n.3527+8T=)
c.11702+8T= (n.11702+8T=)
c.11801+8T= (n.11801+8T=)
c.11558+8T= (n.11558+8T=)
c.11333+8T= (n.11333+8T=)
c.9332+8T= (n.9332+8T=)
c.8561+8T= (n.8561+8T=)
c.5933+8T= (n.5933+8T=)
c.4982+8T= (n.4982+8T=)
15g.28141723A>GCA617086354HERC2c.11816+8T>C (n.11816+8T>C)
c.3527+8T>C (n.3527+8T>C)
c.11702+8T>C (n.11702+8T>C)
c.11801+8T>C (n.11801+8T>C)
c.11558+8T>C (n.11558+8T>C)
c.11333+8T>C (n.11333+8T>C)
c.9332+8T>C (n.9332+8T>C)
c.8561+8T>C (n.8561+8T>C)
c.5933+8T>C (n.5933+8T>C)
c.4982+8T>C (n.4982+8T>C)
 dbSNP gnomAD v2 gnomAD v4
15g.28141724T>CCA267946354HERC2c.11816+7A>G (n.11816+7A>G)
c.3527+7A>G (n.3527+7A>G)
c.11702+7A>G (n.11702+7A>G)
c.11801+7A>G (n.11801+7A>G)
c.11558+7A>G (n.11558+7A>G)
c.11333+7A>G (n.11333+7A>G)
c.9332+7A>G (n.9332+7A>G)
c.8561+7A>G (n.8561+7A>G)
c.5933+7A>G (n.5933+7A>G)
c.4982+7A>G (n.4982+7A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.28141724T=CA2166480064HERC2c.11816+7A= (n.11816+7A=)
c.3527+7A= (n.3527+7A=)
c.11702+7A= (n.11702+7A=)
c.11801+7A= (n.11801+7A=)
c.11558+7A= (n.11558+7A=)
c.11333+7A= (n.11333+7A=)
c.9332+7A= (n.9332+7A=)
c.8561+7A= (n.8561+7A=)
c.5933+7A= (n.5933+7A=)
c.4982+7A= (n.4982+7A=)
15g.28141726delCA2627386275HERC2c.11816+6del (n.11816+6del)
c.3527+6del (n.3527+6del)
c.11702+6del (n.11702+6del)
c.11801+6del (n.11801+6del)
c.11558+6del (n.11558+6del)
c.11333+6del (n.11333+6del)
c.9332+6del (n.9332+6del)
c.8561+6del (n.8561+6del)
c.5933+6del (n.5933+6del)
c.4982+6del (n.4982+6del)
 gnomAD v4
15g.28141725_28141727delinsAATCA2166480066HERC2c.11816+4_11816+6delinsATT (n.11816+4_11816+6delinsATT)
c.3527+4_3527+6delinsATT (n.3527+4_3527+6delinsATT)
c.11702+4_11702+6delinsATT (n.11702+4_11702+6delinsATT)
c.11801+4_11801+6delinsATT (n.11801+4_11801+6delinsATT)
c.11558+4_11558+6delinsATT (n.11558+4_11558+6delinsATT)
c.11333+4_11333+6delinsATT (n.11333+4_11333+6delinsATT)
c.9332+4_9332+6delinsATT (n.9332+4_9332+6delinsATT)
c.8561+4_8561+6delinsATT (n.8561+4_8561+6delinsATT)
c.5933+4_5933+6delinsATT (n.5933+4_5933+6delinsATT)
c.4982+4_4982+6delinsATT (n.4982+4_4982+6delinsATT)
15g.28141726_28141729dupCA2166480065HERC2c.11816+3_11816+6dup (n.11816+3_11816+6dup)
c.3527+3_3527+6dup (n.3527+3_3527+6dup)
c.11702+3_11702+6dup (n.11702+3_11702+6dup)
c.11801+3_11801+6dup (n.11801+3_11801+6dup)
c.11558+3_11558+6dup (n.11558+3_11558+6dup)
c.11333+3_11333+6dup (n.11333+3_11333+6dup)
c.9332+3_9332+6dup (n.9332+3_9332+6dup)
c.8561+3_8561+6dup (n.8561+3_8561+6dup)
c.5933+3_5933+6dup (n.5933+3_5933+6dup)
c.4982+3_4982+6dup (n.4982+3_4982+6dup)
 dbSNP
15g.28141726A=CA2166480068HERC2c.11816+5T= (n.11816+5T=)
c.3527+5T= (n.3527+5T=)
c.11702+5T= (n.11702+5T=)
c.11801+5T= (n.11801+5T=)
c.11558+5T= (n.11558+5T=)
c.11333+5T= (n.11333+5T=)
c.9332+5T= (n.9332+5T=)
c.8561+5T= (n.8561+5T=)
c.5933+5T= (n.5933+5T=)
c.4982+5T= (n.4982+5T=)
15g.28141726A>CCA617086355HERC2c.11816+5T>G (n.11816+5T>G)
c.3527+5T>G (n.3527+5T>G)
c.11702+5T>G (n.11702+5T>G)
c.11801+5T>G (n.11801+5T>G)
c.11558+5T>G (n.11558+5T>G)
c.11333+5T>G (n.11333+5T>G)
c.9332+5T>G (n.9332+5T>G)
c.8561+5T>G (n.8561+5T>G)
c.5933+5T>G (n.5933+5T>G)
c.4982+5T>G (n.4982+5T>G)
 dbSNP gnomAD v2 gnomAD v4
15g.28141726A>GCA2627386276HERC2c.11816+5T>C (n.11816+5T>C)
c.3527+5T>C (n.3527+5T>C)
c.11702+5T>C (n.11702+5T>C)
c.11801+5T>C (n.11801+5T>C)
c.11558+5T>C (n.11558+5T>C)
c.11333+5T>C (n.11333+5T>C)
c.9332+5T>C (n.9332+5T>C)
c.8561+5T>C (n.8561+5T>C)
c.5933+5T>C (n.5933+5T>C)
c.4982+5T>C (n.4982+5T>C)
 gnomAD v4
15g.28141727_28141728delCA2166480067HERC2c.11816+4_11816+5del (n.11816+4_11816+5del)
c.3527+4_3527+5del (n.3527+4_3527+5del)
c.11702+4_11702+5del (n.11702+4_11702+5del)
c.11801+4_11801+5del (n.11801+4_11801+5del)
c.11558+4_11558+5del (n.11558+4_11558+5del)
c.11333+4_11333+5del (n.11333+4_11333+5del)
c.9332+4_9332+5del (n.9332+4_9332+5del)
c.8561+4_8561+5del (n.8561+4_8561+5del)
c.5933+4_5933+5del (n.5933+4_5933+5del)
c.4982+4_4982+5del (n.4982+4_4982+5del)
 dbSNP
15g.28141727T>CCA2575653895HERC2c.11816+4A>G (n.11816+4A>G)
c.3527+4A>G (n.3527+4A>G)
c.11702+4A>G (n.11702+4A>G)
c.11801+4A>G (n.11801+4A>G)
c.11558+4A>G (n.11558+4A>G)
c.11333+4A>G (n.11333+4A>G)
c.9332+4A>G (n.9332+4A>G)
c.8561+4A>G (n.8561+4A>G)
c.5933+4A>G (n.5933+4A>G)
c.4982+4A>G (n.4982+4A>G)
15g.28141728A=CA2166480071HERC2c.11816+3T= (n.11816+3T=)
c.3527+3T= (n.3527+3T=)
c.11702+3T= (n.11702+3T=)
c.11801+3T= (n.11801+3T=)
c.11558+3T= (n.11558+3T=)
c.11333+3T= (n.11333+3T=)
c.9332+3T= (n.9332+3T=)
c.8561+3T= (n.8561+3T=)
c.5933+3T= (n.5933+3T=)
c.4982+3T= (n.4982+3T=)
15g.28141728A>CCA645573693HERC2c.11816+3T>G (n.11816+3T>G)
c.3527+3T>G (n.3527+3T>G)
c.11702+3T>G (n.11702+3T>G)
c.11801+3T>G (n.11801+3T>G)
c.11558+3T>G (n.11558+3T>G)
c.11333+3T>G (n.11333+3T>G)
c.9332+3T>G (n.9332+3T>G)
c.8561+3T>G (n.8561+3T>G)
c.5933+3T>G (n.5933+3T>G)
c.4982+3T>G (n.4982+3T>G)
 COSMIC COSMIC
15g.28141728A>TCA2166480072HERC2c.11816+3T>A (n.11816+3T>A)
c.3527+3T>A (n.3527+3T>A)
c.11702+3T>A (n.11702+3T>A)
c.11801+3T>A (n.11801+3T>A)
c.11558+3T>A (n.11558+3T>A)
c.11333+3T>A (n.11333+3T>A)
c.9332+3T>A (n.9332+3T>A)
c.8561+3T>A (n.8561+3T>A)
c.5933+3T>A (n.5933+3T>A)
c.4982+3T>A (n.4982+3T>A)
 dbSNP
15g.28141729delCA2627386277HERC2c.11816+3del (n.11816+3del)
c.3527+3del (n.3527+3del)
c.11702+3del (n.11702+3del)
c.11801+3del (n.11801+3del)
c.11558+3del (n.11558+3del)
c.11333+3del (n.11333+3del)
c.9332+3del (n.9332+3del)
c.8561+3del (n.8561+3del)
c.5933+3del (n.5933+3del)
c.4982+3del (n.4982+3del)
 gnomAD v4
15g.28141729A>CCA391381767HERC2c.11816+2T>G (n.11816+2T>G)
c.3527+2T>G (n.3527+2T>G)
c.11702+2T>G (n.11702+2T>G)
c.11801+2T>G (n.11801+2T>G)
c.11558+2T>G (n.11558+2T>G)
c.11333+2T>G (n.11333+2T>G)
c.9332+2T>G (n.9332+2T>G)
c.8561+2T>G (n.8561+2T>G)
c.5933+2T>G (n.5933+2T>G)
c.4982+2T>G (n.4982+2T>G)
15g.28141729A>GCA391381770HERC2c.11816+2T>C (n.11816+2T>C)
c.3527+2T>C (n.3527+2T>C)
c.11702+2T>C (n.11702+2T>C)
c.11801+2T>C (n.11801+2T>C)
c.11558+2T>C (n.11558+2T>C)
c.11333+2T>C (n.11333+2T>C)
c.9332+2T>C (n.9332+2T>C)
c.8561+2T>C (n.8561+2T>C)
c.5933+2T>C (n.5933+2T>C)
c.4982+2T>C (n.4982+2T>C)
15g.28141729A>TCA391381768HERC2c.11816+2T>A (n.11816+2T>A)
c.3527+2T>A (n.3527+2T>A)
c.11702+2T>A (n.11702+2T>A)
c.11801+2T>A (n.11801+2T>A)
c.11558+2T>A (n.11558+2T>A)
c.11333+2T>A (n.11333+2T>A)
c.9332+2T>A (n.9332+2T>A)
c.8561+2T>A (n.8561+2T>A)
c.5933+2T>A (n.5933+2T>A)
c.4982+2T>A (n.4982+2T>A)
15g.28141730C>ACA391381772HERC2c.11816+1G>T (n.11816+1G>T)
c.3527+1G>T (n.3527+1G>T)
c.11702+1G>T (n.11702+1G>T)
c.11801+1G>T (n.11801+1G>T)
c.11558+1G>T (n.11558+1G>T)
c.11333+1G>T (n.11333+1G>T)
c.9332+1G>T (n.9332+1G>T)
c.8561+1G>T (n.8561+1G>T)
c.5933+1G>T (n.5933+1G>T)
c.4982+1G>T (n.4982+1G>T)
 COSMIC COSMIC
15g.28141730C>GCA391381774HERC2c.11816+1G>C (n.11816+1G>C)
c.3527+1G>C (n.3527+1G>C)
c.11702+1G>C (n.11702+1G>C)
c.11801+1G>C (n.11801+1G>C)
c.11558+1G>C (n.11558+1G>C)
c.11333+1G>C (n.11333+1G>C)
c.9332+1G>C (n.9332+1G>C)
c.8561+1G>C (n.8561+1G>C)
c.5933+1G>C (n.5933+1G>C)
c.4982+1G>C (n.4982+1G>C)
15g.28141730C>TCA391381776HERC2c.11816+1G>A (n.11816+1G>A)
c.3527+1G>A (n.3527+1G>A)
c.11702+1G>A (n.11702+1G>A)
c.11801+1G>A (n.11801+1G>A)
c.11558+1G>A (n.11558+1G>A)
c.11333+1G>A (n.11333+1G>A)
c.9332+1G>A (n.9332+1G>A)
c.8561+1G>A (n.8561+1G>A)
c.5933+1G>A (n.5933+1G>A)
c.4982+1G>A (n.4982+1G>A)
15g.28141731C>ACA391381779HERC2c.11816G>T (p.Arg3939Met)
c.3527G>T (p.Arg1176Met)
c.11702G>T (p.Arg3901Met)
c.11801G>T (p.Arg3934Met)
c.11558G>T (p.Arg3853Met)
c.11333G>T (p.Arg3778Met)
c.9332G>T (p.Arg3111Met)
c.8561G>T (p.Arg2854Met)
c.5933G>T (p.Arg1978Met)
c.4982G>T (p.Arg1661Met)
15g.28141731C>GCA391381780HERC2c.11816G>C (p.Arg3939Thr)
c.3527G>C (p.Arg1176Thr)
c.11702G>C (p.Arg3901Thr)
c.11801G>C (p.Arg3934Thr)
c.11558G>C (p.Arg3853Thr)
c.11333G>C (p.Arg3778Thr)
c.9332G>C (p.Arg3111Thr)
c.8561G>C (p.Arg2854Thr)
c.5933G>C (p.Arg1978Thr)
c.4982G>C (p.Arg1661Thr)
 COSMIC COSMIC
15g.28141731C>TCA391381781HERC2c.11816G>A (p.Arg3939Lys)
c.3527G>A (p.Arg1176Lys)
c.11702G>A (p.Arg3901Lys)
c.11801G>A (p.Arg3934Lys)
c.11558G>A (p.Arg3853Lys)
c.11333G>A (p.Arg3778Lys)
c.9332G>A (p.Arg3111Lys)
c.8561G>A (p.Arg2854Lys)
c.5933G>A (p.Arg1978Lys)
c.4982G>A (p.Arg1661Lys)
15g.28141732T>ACA391381783HERC2c.11815A>T (p.Arg3939Trp)
c.3526A>T (p.Arg1176Trp)
c.11701A>T (p.Arg3901Trp)
c.11800A>T (p.Arg3934Trp)
c.11557A>T (p.Arg3853Trp)
c.11332A>T (p.Arg3778Trp)
c.9331A>T (p.Arg3111Trp)
c.8560A>T (p.Arg2854Trp)
c.5932A>T (p.Arg1978Trp)
c.4981A>T (p.Arg1661Trp)
15g.28141732T>CCA391381784HERC2c.11815A>G (p.Arg3939Gly)
c.3526A>G (p.Arg1176Gly)
c.11701A>G (p.Arg3901Gly)
c.11800A>G (p.Arg3934Gly)
c.11557A>G (p.Arg3853Gly)
c.11332A>G (p.Arg3778Gly)
c.9331A>G (p.Arg3111Gly)
c.8560A>G (p.Arg2854Gly)
c.5932A>G (p.Arg1978Gly)
c.4981A>G (p.Arg1661Gly)
15g.28141732T>GCA489234993HERC2c.11815A>C (p.Arg3939=)
c.3526A>C (p.Arg1176=)
c.11701A>C (p.Arg3901=)
c.11800A>C (p.Arg3934=)
c.11557A>C (p.Arg3853=)
c.11332A>C (p.Arg3778=)
c.9331A>C (p.Arg3111=)
c.8560A>C (p.Arg2854=)
c.5932A>C (p.Arg1978=)
c.4981A>C (p.Arg1661=)
15g.28141733G>ACA489234994HERC2c.11814C>T (p.Asn3938=)
c.3525C>T (p.Asn1175=)
c.11700C>T (p.Asn3900=)
c.11799C>T (p.Asn3933=)
c.11556C>T (p.Asn3852=)
c.11331C>T (p.Asn3777=)
c.9330C>T (p.Asn3110=)
c.8559C>T (p.Asn2853=)
c.5931C>T (p.Asn1977=)
c.4980C>T (p.Asn1660=)
15g.28141733G>CCA391381785HERC2c.11814C>G (p.Asn3938Lys)
c.3525C>G (p.Asn1175Lys)
c.11700C>G (p.Asn3900Lys)
c.11799C>G (p.Asn3933Lys)
c.11556C>G (p.Asn3852Lys)
c.11331C>G (p.Asn3777Lys)
c.9330C>G (p.Asn3110Lys)
c.8559C>G (p.Asn2853Lys)
c.5931C>G (p.Asn1977Lys)
c.4980C>G (p.Asn1660Lys)
15g.28141733G>TCA391381786HERC2c.11814C>A (p.Asn3938Lys)
c.3525C>A (p.Asn1175Lys)
c.11700C>A (p.Asn3900Lys)
c.11799C>A (p.Asn3933Lys)
c.11556C>A (p.Asn3852Lys)
c.11331C>A (p.Asn3777Lys)
c.9330C>A (p.Asn3110Lys)
c.8559C>A (p.Asn2853Lys)
c.5931C>A (p.Asn1977Lys)
c.4980C>A (p.Asn1660Lys)
15g.28141734T>ACA391381792HERC2c.11813A>T (p.Asn3938Ile)
c.3524A>T (p.Asn1175Ile)
c.11699A>T (p.Asn3900Ile)
c.11798A>T (p.Asn3933Ile)
c.11555A>T (p.Asn3852Ile)
c.11330A>T (p.Asn3777Ile)
c.9329A>T (p.Asn3110Ile)
c.8558A>T (p.Asn2853Ile)
c.5930A>T (p.Asn1977Ile)
c.4979A>T (p.Asn1660Ile)
15g.28141734T>CCA391381791HERC2c.11813A>G (p.Asn3938Ser)
c.3524A>G (p.Asn1175Ser)
c.11699A>G (p.Asn3900Ser)
c.11798A>G (p.Asn3933Ser)
c.11555A>G (p.Asn3852Ser)
c.11330A>G (p.Asn3777Ser)
c.9329A>G (p.Asn3110Ser)
c.8558A>G (p.Asn2853Ser)
c.5930A>G (p.Asn1977Ser)
c.4979A>G (p.Asn1660Ser)
15g.28141734T>GCA391381789HERC2c.11813A>C (p.Asn3938Thr)
c.3524A>C (p.Asn1175Thr)
c.11699A>C (p.Asn3900Thr)
c.11798A>C (p.Asn3933Thr)
c.11555A>C (p.Asn3852Thr)
c.11330A>C (p.Asn3777Thr)
c.9329A>C (p.Asn3110Thr)
c.8558A>C (p.Asn2853Thr)
c.5930A>C (p.Asn1977Thr)
c.4979A>C (p.Asn1660Thr)
15g.28141735T>ACA391381795HERC2c.11812A>T (p.Asn3938Tyr)
c.3523A>T (p.Asn1175Tyr)
c.11698A>T (p.Asn3900Tyr)
c.11797A>T (p.Asn3933Tyr)
c.11554A>T (p.Asn3852Tyr)
c.11329A>T (p.Asn3777Tyr)
c.9328A>T (p.Asn3110Tyr)
c.8557A>T (p.Asn2853Tyr)
c.5929A>T (p.Asn1977Tyr)
c.4978A>T (p.Asn1660Tyr)
15g.28141735T>CCA391381798HERC2c.11812A>G (p.Asn3938Asp)
c.3523A>G (p.Asn1175Asp)
c.11698A>G (p.Asn3900Asp)
c.11797A>G (p.Asn3933Asp)
c.11554A>G (p.Asn3852Asp)
c.11329A>G (p.Asn3777Asp)
c.9328A>G (p.Asn3110Asp)
c.8557A>G (p.Asn2853Asp)
c.5929A>G (p.Asn1977Asp)
c.4978A>G (p.Asn1660Asp)
15g.28141735T>GCA391381796HERC2c.11812A>C (p.Asn3938His)
c.3523A>C (p.Asn1175His)
c.11698A>C (p.Asn3900His)
c.11797A>C (p.Asn3933His)
c.11554A>C (p.Asn3852His)
c.11329A>C (p.Asn3777His)
c.9328A>C (p.Asn3110His)
c.8557A>C (p.Asn2853His)
c.5929A>C (p.Asn1977His)
c.4978A>C (p.Asn1660His)
15g.28141736C>ACA7440467HERC2c.11811G>T (p.Met3937Ile)
c.3522G>T (p.Met1174Ile)
c.11697G>T (p.Met3899Ile)
c.11796G>T (p.Met3932Ile)
c.11553G>T (p.Met3851Ile)
c.11328G>T (p.Met3776Ile)
c.9327G>T (p.Met3109Ile)
c.8556G>T (p.Met2852Ile)
c.5928G>T (p.Met1976Ile)
c.4977G>T (p.Met1659Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141736C=CA2166480074HERC2c.11811G= (p.Met3937=)
c.3522G= (p.Met1174=)
c.11697G= (p.Met3899=)
c.11796G= (p.Met3932=)
c.11553G= (p.Met3851=)
c.11328G= (p.Met3776=)
c.9327G= (p.Met3109=)
c.8556G= (p.Met2852=)
c.5928G= (p.Met1976=)
c.4977G= (p.Met1659=)
15g.28141736C>GCA391381799HERC2c.11811G>C (p.Met3937Ile)
c.3522G>C (p.Met1174Ile)
c.11697G>C (p.Met3899Ile)
c.11796G>C (p.Met3932Ile)
c.11553G>C (p.Met3851Ile)
c.11328G>C (p.Met3776Ile)
c.9327G>C (p.Met3109Ile)
c.8556G>C (p.Met2852Ile)
c.5928G>C (p.Met1976Ile)
c.4977G>C (p.Met1659Ile)
15g.28141736C>TCA391381800HERC2c.11811G>A (p.Met3937Ile)
c.3522G>A (p.Met1174Ile)
c.11697G>A (p.Met3899Ile)
c.11796G>A (p.Met3932Ile)
c.11553G>A (p.Met3851Ile)
c.11328G>A (p.Met3776Ile)
c.9327G>A (p.Met3109Ile)
c.8556G>A (p.Met2852Ile)
c.5928G>A (p.Met1976Ile)
c.4977G>A (p.Met1659Ile)
 gnomAD v4
15g.28141737A>CCA391381801HERC2c.11810T>G (p.Met3937Arg)
c.3521T>G (p.Met1174Arg)
c.11696T>G (p.Met3899Arg)
c.11795T>G (p.Met3932Arg)
c.11552T>G (p.Met3851Arg)
c.11327T>G (p.Met3776Arg)
c.9326T>G (p.Met3109Arg)
c.8555T>G (p.Met2852Arg)
c.5927T>G (p.Met1976Arg)
c.4976T>G (p.Met1659Arg)
15g.28141737A>GCA391381802HERC2c.11810T>C (p.Met3937Thr)
c.3521T>C (p.Met1174Thr)
c.11696T>C (p.Met3899Thr)
c.11795T>C (p.Met3932Thr)
c.11552T>C (p.Met3851Thr)
c.11327T>C (p.Met3776Thr)
c.9326T>C (p.Met3109Thr)
c.8555T>C (p.Met2852Thr)
c.5927T>C (p.Met1976Thr)
c.4976T>C (p.Met1659Thr)
15g.28141737A>TCA391381803HERC2c.11810T>A (p.Met3937Lys)
c.3521T>A (p.Met1174Lys)
c.11696T>A (p.Met3899Lys)
c.11795T>A (p.Met3932Lys)
c.11552T>A (p.Met3851Lys)
c.11327T>A (p.Met3776Lys)
c.9326T>A (p.Met3109Lys)
c.8555T>A (p.Met2852Lys)
c.5927T>A (p.Met1976Lys)
c.4976T>A (p.Met1659Lys)
15g.28141738T>ACA391381804HERC2c.11809A>T (p.Met3937Leu)
c.3520A>T (p.Met1174Leu)
c.11695A>T (p.Met3899Leu)
c.11794A>T (p.Met3932Leu)
c.11551A>T (p.Met3851Leu)
c.11326A>T (p.Met3776Leu)
c.9325A>T (p.Met3109Leu)
c.8554A>T (p.Met2852Leu)
c.5926A>T (p.Met1976Leu)
c.4975A>T (p.Met1659Leu)
15g.28141738T>CCA391381805HERC2c.11809A>G (p.Met3937Val)
c.3520A>G (p.Met1174Val)
c.11695A>G (p.Met3899Val)
c.11794A>G (p.Met3932Val)
c.11551A>G (p.Met3851Val)
c.11326A>G (p.Met3776Val)
c.9325A>G (p.Met3109Val)
c.8554A>G (p.Met2852Val)
c.5926A>G (p.Met1976Val)
c.4975A>G (p.Met1659Val)
15g.28141738T>GCA391381806HERC2c.11809A>C (p.Met3937Leu)
c.3520A>C (p.Met1174Leu)
c.11695A>C (p.Met3899Leu)
c.11794A>C (p.Met3932Leu)
c.11551A>C (p.Met3851Leu)
c.11326A>C (p.Met3776Leu)
c.9325A>C (p.Met3109Leu)
c.8554A>C (p.Met2852Leu)
c.5926A>C (p.Met1976Leu)
c.4975A>C (p.Met1659Leu)
15g.28141739C>ACA391381807HERC2c.11808G>T (p.Trp3936Cys)
c.3519G>T (p.Trp1173Cys)
n.323G>T
c.11694G>T (p.Trp3898Cys)
c.11793G>T (p.Trp3931Cys)
c.11550G>T (p.Trp3850Cys)
c.11325G>T (p.Trp3775Cys)
c.9324G>T (p.Trp3108Cys)
c.8553G>T (p.Trp2851Cys)
c.5925G>T (p.Trp1975Cys)
c.4974G>T (p.Trp1658Cys)
15g.28141739C=CA2166480077HERC2c.11808G= (p.Trp3936=)
c.3519G= (p.Trp1173=)
n.323G=
c.11694G= (p.Trp3898=)
c.11793G= (p.Trp3931=)
c.11550G= (p.Trp3850=)
c.11325G= (p.Trp3775=)
c.9324G= (p.Trp3108=)
c.8553G= (p.Trp2851=)
c.5925G= (p.Trp1975=)
c.4974G= (p.Trp1658=)
15g.28141739C>GCA391381808HERC2c.11808G>C (p.Trp3936Cys)
c.3519G>C (p.Trp1173Cys)
n.323G>C
c.11694G>C (p.Trp3898Cys)
c.11793G>C (p.Trp3931Cys)
c.11550G>C (p.Trp3850Cys)
c.11325G>C (p.Trp3775Cys)
c.9324G>C (p.Trp3108Cys)
c.8553G>C (p.Trp2851Cys)
c.5925G>C (p.Trp1975Cys)
c.4974G>C (p.Trp1658Cys)
 dbSNP gnomAD v2 gnomAD v4
15g.28141739C>TCA391381809HERC2c.11808G>A (p.Trp3936Ter)
c.3519G>A (p.Trp1173Ter)
n.323G>A
c.11694G>A (p.Trp3898Ter)
c.11793G>A (p.Trp3931Ter)
c.11550G>A (p.Trp3850Ter)
c.11325G>A (p.Trp3775Ter)
c.9324G>A (p.Trp3108Ter)
c.8553G>A (p.Trp2851Ter)
c.5925G>A (p.Trp1975Ter)
c.4974G>A (p.Trp1658Ter)
15g.28141740C>ACA391381812HERC2c.11807G>T (p.Trp3936Leu)
c.3518G>T (p.Trp1173Leu)
n.322G>T
c.11693G>T (p.Trp3898Leu)
c.11792G>T (p.Trp3931Leu)
c.11549G>T (p.Trp3850Leu)
c.11324G>T (p.Trp3775Leu)
c.9323G>T (p.Trp3108Leu)
c.8552G>T (p.Trp2851Leu)
c.5924G>T (p.Trp1975Leu)
c.4973G>T (p.Trp1658Leu)
15g.28141740C>GCA391381810HERC2c.11807G>C (p.Trp3936Ser)
c.3518G>C (p.Trp1173Ser)
n.322G>C
c.11693G>C (p.Trp3898Ser)
c.11792G>C (p.Trp3931Ser)
c.11549G>C (p.Trp3850Ser)
c.11324G>C (p.Trp3775Ser)
c.9323G>C (p.Trp3108Ser)
c.8552G>C (p.Trp2851Ser)
c.5924G>C (p.Trp1975Ser)
c.4973G>C (p.Trp1658Ser)
15g.28141740C>TCA391381811HERC2c.11807G>A (p.Trp3936Ter)
c.3518G>A (p.Trp1173Ter)
n.322G>A
c.11693G>A (p.Trp3898Ter)
c.11792G>A (p.Trp3931Ter)
c.11549G>A (p.Trp3850Ter)
c.11324G>A (p.Trp3775Ter)
c.9323G>A (p.Trp3108Ter)
c.8552G>A (p.Trp2851Ter)
c.5924G>A (p.Trp1975Ter)
c.4973G>A (p.Trp1658Ter)
15g.28141741A>CCA391381813HERC2c.11806T>G (p.Trp3936Gly)
c.3517T>G (p.Trp1173Gly)
n.321T>G
c.11692T>G (p.Trp3898Gly)
c.11791T>G (p.Trp3931Gly)
c.11548T>G (p.Trp3850Gly)
c.11323T>G (p.Trp3775Gly)
c.9322T>G (p.Trp3108Gly)
c.8551T>G (p.Trp2851Gly)
c.5923T>G (p.Trp1975Gly)
c.4972T>G (p.Trp1658Gly)
15g.28141741A>GCA391381814HERC2c.11806T>C (p.Trp3936Arg)
c.3517T>C (p.Trp1173Arg)
n.321T>C
c.11692T>C (p.Trp3898Arg)
c.11791T>C (p.Trp3931Arg)
c.11548T>C (p.Trp3850Arg)
c.11323T>C (p.Trp3775Arg)
c.9322T>C (p.Trp3108Arg)
c.8551T>C (p.Trp2851Arg)
c.5923T>C (p.Trp1975Arg)
c.4972T>C (p.Trp1658Arg)
15g.28141741A>TCA391381815HERC2c.11806T>A (p.Trp3936Arg)
c.3517T>A (p.Trp1173Arg)
n.321T>A
c.11692T>A (p.Trp3898Arg)
c.11791T>A (p.Trp3931Arg)
c.11548T>A (p.Trp3850Arg)
c.11323T>A (p.Trp3775Arg)
c.9322T>A (p.Trp3108Arg)
c.8551T>A (p.Trp2851Arg)
c.5923T>A (p.Trp1975Arg)
c.4972T>A (p.Trp1658Arg)
15g.28141742C>ACA391381816HERC2c.11805G>T (p.Gln3935His)
c.3516G>T (p.Gln1172His)
n.320G>T
c.11691G>T (p.Gln3897His)
c.11790G>T (p.Gln3930His)
c.11547G>T (p.Gln3849His)
c.11322G>T (p.Gln3774His)
c.9321G>T (p.Gln3107His)
c.8550G>T (p.Gln2850His)
c.5922G>T (p.Gln1974His)
c.4971G>T (p.Gln1657His)
15g.28141742C>GCA391381817HERC2c.11805G>C (p.Gln3935His)
c.3516G>C (p.Gln1172His)
n.320G>C
c.11691G>C (p.Gln3897His)
c.11790G>C (p.Gln3930His)
c.11547G>C (p.Gln3849His)
c.11322G>C (p.Gln3774His)
c.9321G>C (p.Gln3107His)
c.8550G>C (p.Gln2850His)
c.5922G>C (p.Gln1974His)
c.4971G>C (p.Gln1657His)
15g.28141742C>TCA489235001HERC2c.11805G>A (p.Gln3935=)
c.3516G>A (p.Gln1172=)
n.320G>A
c.11691G>A (p.Gln3897=)
c.11790G>A (p.Gln3930=)
c.11547G>A (p.Gln3849=)
c.11322G>A (p.Gln3774=)
c.9321G>A (p.Gln3107=)
c.8550G>A (p.Gln2850=)
c.5922G>A (p.Gln1974=)
c.4971G>A (p.Gln1657=)
15g.28141743T>ACA391381818HERC2c.11804A>T (p.Gln3935Leu)
c.3515A>T (p.Gln1172Leu)
n.319A>T
c.11690A>T (p.Gln3897Leu)
c.11789A>T (p.Gln3930Leu)
c.11546A>T (p.Gln3849Leu)
c.11321A>T (p.Gln3774Leu)
c.9320A>T (p.Gln3107Leu)
c.8549A>T (p.Gln2850Leu)
c.5921A>T (p.Gln1974Leu)
c.4970A>T (p.Gln1657Leu)
15g.28141743T>CCA391381819HERC2c.11804A>G (p.Gln3935Arg)
c.3515A>G (p.Gln1172Arg)
n.319A>G
c.11690A>G (p.Gln3897Arg)
c.11789A>G (p.Gln3930Arg)
c.11546A>G (p.Gln3849Arg)
c.11321A>G (p.Gln3774Arg)
c.9320A>G (p.Gln3107Arg)
c.8549A>G (p.Gln2850Arg)
c.5921A>G (p.Gln1974Arg)
c.4970A>G (p.Gln1657Arg)
 gnomAD v4
15g.28141743T>GCA391381820HERC2c.11804A>C (p.Gln3935Pro)
c.3515A>C (p.Gln1172Pro)
n.319A>C
c.11690A>C (p.Gln3897Pro)
c.11789A>C (p.Gln3930Pro)
c.11546A>C (p.Gln3849Pro)
c.11321A>C (p.Gln3774Pro)
c.9320A>C (p.Gln3107Pro)
c.8549A>C (p.Gln2850Pro)
c.5921A>C (p.Gln1974Pro)
c.4970A>C (p.Gln1657Pro)
15g.28141744G>ACA391381821HERC2c.11803C>T (p.Gln3935Ter)
c.3514C>T (p.Gln1172Ter)
n.318C>T
c.11689C>T (p.Gln3897Ter)
c.11788C>T (p.Gln3930Ter)
c.11545C>T (p.Gln3849Ter)
c.11320C>T (p.Gln3774Ter)
c.9319C>T (p.Gln3107Ter)
c.8548C>T (p.Gln2850Ter)
c.5920C>T (p.Gln1974Ter)
c.4969C>T (p.Gln1657Ter)
15g.28141744G>CCA391381822HERC2c.11803C>G (p.Gln3935Glu)
c.3514C>G (p.Gln1172Glu)
n.318C>G
c.11689C>G (p.Gln3897Glu)
c.11788C>G (p.Gln3930Glu)
c.11545C>G (p.Gln3849Glu)
c.11320C>G (p.Gln3774Glu)
c.9319C>G (p.Gln3107Glu)
c.8548C>G (p.Gln2850Glu)
c.5920C>G (p.Gln1974Glu)
c.4969C>G (p.Gln1657Glu)
15g.28141744G>TCA391381823HERC2c.11803C>A (p.Gln3935Lys)
c.3514C>A (p.Gln1172Lys)
n.318C>A
c.11689C>A (p.Gln3897Lys)
c.11788C>A (p.Gln3930Lys)
c.11545C>A (p.Gln3849Lys)
c.11320C>A (p.Gln3774Lys)
c.9319C>A (p.Gln3107Lys)
c.8548C>A (p.Gln2850Lys)
c.5920C>A (p.Gln1974Lys)
c.4969C>A (p.Gln1657Lys)
15g.28141745C>ACA489235005HERC2c.11802G>T (p.Val3934=)
c.3513G>T (p.Val1171=)
n.317G>T
c.11688G>T (p.Val3896=)
c.11787G>T (p.Val3929=)
c.11544G>T (p.Val3848=)
c.11319G>T (p.Val3773=)
c.9318G>T (p.Val3106=)
c.8547G>T (p.Val2849=)
c.5919G>T (p.Val1973=)
c.4968G>T (p.Val1656=)
15g.28141745C>GCA489235006HERC2c.11802G>C (p.Val3934=)
c.3513G>C (p.Val1171=)
n.317G>C
c.11688G>C (p.Val3896=)
c.11787G>C (p.Val3929=)
c.11544G>C (p.Val3848=)
c.11319G>C (p.Val3773=)
c.9318G>C (p.Val3106=)
c.8547G>C (p.Val2849=)
c.5919G>C (p.Val1973=)
c.4968G>C (p.Val1656=)
15g.28141745C>TCA489235007HERC2c.11802G>A (p.Val3934=)
c.3513G>A (p.Val1171=)
n.317G>A
c.11688G>A (p.Val3896=)
c.11787G>A (p.Val3929=)
c.11544G>A (p.Val3848=)
c.11319G>A (p.Val3773=)
c.9318G>A (p.Val3106=)
c.8547G>A (p.Val2849=)
c.5919G>A (p.Val1973=)
c.4968G>A (p.Val1656=)
 gnomAD v4
15g.28141746A>CCA391381826HERC2c.11801T>G (p.Val3934Gly)
c.3512T>G (p.Val1171Gly)
n.316T>G
c.11687T>G (p.Val3896Gly)
c.11786T>G (p.Val3929Gly)
c.11543T>G (p.Val3848Gly)
c.11318T>G (p.Val3773Gly)
c.9317T>G (p.Val3106Gly)
c.8546T>G (p.Val2849Gly)
c.5918T>G (p.Val1973Gly)
c.4967T>G (p.Val1656Gly)
15g.28141746A>GCA391381825HERC2c.11801T>C (p.Val3934Ala)
c.3512T>C (p.Val1171Ala)
n.316T>C
c.11687T>C (p.Val3896Ala)
c.11786T>C (p.Val3929Ala)
c.11543T>C (p.Val3848Ala)
c.11318T>C (p.Val3773Ala)
c.9317T>C (p.Val3106Ala)
c.8546T>C (p.Val2849Ala)
c.5918T>C (p.Val1973Ala)
c.4967T>C (p.Val1656Ala)
15g.28141746A>TCA391381824HERC2c.11801T>A (p.Val3934Glu)
c.3512T>A (p.Val1171Glu)
n.316T>A
c.11687T>A (p.Val3896Glu)
c.11786T>A (p.Val3929Glu)
c.11543T>A (p.Val3848Glu)
c.11318T>A (p.Val3773Glu)
c.9317T>A (p.Val3106Glu)
c.8546T>A (p.Val2849Glu)
c.5918T>A (p.Val1973Glu)
c.4967T>A (p.Val1656Glu)
15g.28141747C>ACA391381827HERC2c.11800G>T (p.Val3934Leu)
c.3511G>T (p.Val1171Leu)
n.315G>T
c.11686G>T (p.Val3896Leu)
c.11785G>T (p.Val3929Leu)
c.11542G>T (p.Val3848Leu)
c.11317G>T (p.Val3773Leu)
c.9316G>T (p.Val3106Leu)
c.8545G>T (p.Val2849Leu)
c.5917G>T (p.Val1973Leu)
c.4966G>T (p.Val1656Leu)
 gnomAD v4
15g.28141747C>GCA391381828HERC2c.11800G>C (p.Val3934Leu)
c.3511G>C (p.Val1171Leu)
n.315G>C
c.11686G>C (p.Val3896Leu)
c.11785G>C (p.Val3929Leu)
c.11542G>C (p.Val3848Leu)
c.11317G>C (p.Val3773Leu)
c.9316G>C (p.Val3106Leu)
c.8545G>C (p.Val2849Leu)
c.5917G>C (p.Val1973Leu)
c.4966G>C (p.Val1656Leu)
15g.28141747C>TCA391381829HERC2c.11800G>A (p.Val3934Met)
c.3511G>A (p.Val1171Met)
n.315G>A
c.11686G>A (p.Val3896Met)
c.11785G>A (p.Val3929Met)
c.11542G>A (p.Val3848Met)
c.11317G>A (p.Val3773Met)
c.9316G>A (p.Val3106Met)
c.8545G>A (p.Val2849Met)
c.5917G>A (p.Val1973Met)
c.4966G>A (p.Val1656Met)
 gnomAD v4
15g.28141748A=CA2166480079HERC2c.11799T= (p.Leu3933=)
c.3510T= (p.Leu1170=)
n.314T=
c.11685T= (p.Leu3895=)
c.11784T= (p.Leu3928=)
c.11541T= (p.Leu3847=)
c.11316T= (p.Leu3772=)
c.9315T= (p.Leu3105=)
c.8544T= (p.Leu2848=)
c.5916T= (p.Leu1972=)
c.4965T= (p.Leu1655=)
15g.28141748A>CCA489235009HERC2c.11799T>G (p.Leu3933=)
c.3510T>G (p.Leu1170=)
n.314T>G
c.11685T>G (p.Leu3895=)
c.11784T>G (p.Leu3928=)
c.11541T>G (p.Leu3847=)
c.11316T>G (p.Leu3772=)
c.9315T>G (p.Leu3105=)
c.8544T>G (p.Leu2848=)
c.5916T>G (p.Leu1972=)
c.4965T>G (p.Leu1655=)
 dbSNP
15g.28141748A>GCA489235011HERC2c.11799T>C (p.Leu3933=)
c.3510T>C (p.Leu1170=)
n.314T>C
c.11685T>C (p.Leu3895=)
c.11784T>C (p.Leu3928=)
c.11541T>C (p.Leu3847=)
c.11316T>C (p.Leu3772=)
c.9315T>C (p.Leu3105=)
c.8544T>C (p.Leu2848=)
c.5916T>C (p.Leu1972=)
c.4965T>C (p.Leu1655=)
15g.28141748A>TCA489235012HERC2c.11799T>A (p.Leu3933=)
c.3510T>A (p.Leu1170=)
n.314T>A
c.11685T>A (p.Leu3895=)
c.11784T>A (p.Leu3928=)
c.11541T>A (p.Leu3847=)
c.11316T>A (p.Leu3772=)
c.9315T>A (p.Leu3105=)
c.8544T>A (p.Leu2848=)
c.5916T>A (p.Leu1972=)
c.4965T>A (p.Leu1655=)
15g.28141749A>CCA391381830HERC2c.11798T>G (p.Leu3933Arg)
c.3509T>G (p.Leu1170Arg)
n.313T>G
c.11684T>G (p.Leu3895Arg)
c.11783T>G (p.Leu3928Arg)
c.11540T>G (p.Leu3847Arg)
c.11315T>G (p.Leu3772Arg)
c.9314T>G (p.Leu3105Arg)
c.8543T>G (p.Leu2848Arg)
c.5915T>G (p.Leu1972Arg)
c.4964T>G (p.Leu1655Arg)
15g.28141749A>GCA391381831HERC2c.11798T>C (p.Leu3933Pro)
c.3509T>C (p.Leu1170Pro)
n.313T>C
c.11684T>C (p.Leu3895Pro)
c.11783T>C (p.Leu3928Pro)
c.11540T>C (p.Leu3847Pro)
c.11315T>C (p.Leu3772Pro)
c.9314T>C (p.Leu3105Pro)
c.8543T>C (p.Leu2848Pro)
c.5915T>C (p.Leu1972Pro)
c.4964T>C (p.Leu1655Pro)
15g.28141749A>TCA391381832HERC2c.11798T>A (p.Leu3933His)
c.3509T>A (p.Leu1170His)
n.313T>A
c.11684T>A (p.Leu3895His)
c.11783T>A (p.Leu3928His)
c.11540T>A (p.Leu3847His)
c.11315T>A (p.Leu3772His)
c.9314T>A (p.Leu3105His)
c.8543T>A (p.Leu2848His)
c.5915T>A (p.Leu1972His)
c.4964T>A (p.Leu1655His)
15g.28141750G>ACA391381835HERC2c.11797C>T (p.Leu3933Phe)
c.3508C>T (p.Leu1170Phe)
n.312C>T
c.11683C>T (p.Leu3895Phe)
c.11782C>T (p.Leu3928Phe)
c.11539C>T (p.Leu3847Phe)
c.11314C>T (p.Leu3772Phe)
c.9313C>T (p.Leu3105Phe)
c.8542C>T (p.Leu2848Phe)
c.5914C>T (p.Leu1972Phe)
c.4963C>T (p.Leu1655Phe)
 dbSNP gnomAD v2 gnomAD v4
15g.28141750G>CCA391381833HERC2c.11797C>G (p.Leu3933Val)
c.3508C>G (p.Leu1170Val)
n.312C>G
c.11683C>G (p.Leu3895Val)
c.11782C>G (p.Leu3928Val)
c.11539C>G (p.Leu3847Val)
c.11314C>G (p.Leu3772Val)
c.9313C>G (p.Leu3105Val)
c.8542C>G (p.Leu2848Val)
c.5914C>G (p.Leu1972Val)
c.4963C>G (p.Leu1655Val)
 dbSNP gnomAD v2 gnomAD v4
15g.28141750G=CA2166480081HERC2c.11797C= (p.Leu3933=)
c.3508C= (p.Leu1170=)
n.312C=
c.11683C= (p.Leu3895=)
c.11782C= (p.Leu3928=)
c.11539C= (p.Leu3847=)
c.11314C= (p.Leu3772=)
c.9313C= (p.Leu3105=)
c.8542C= (p.Leu2848=)
c.5914C= (p.Leu1972=)
c.4963C= (p.Leu1655=)
15g.28141750G>TCA391381834HERC2c.11797C>A (p.Leu3933Ile)
c.3508C>A (p.Leu1170Ile)
n.312C>A
c.11683C>A (p.Leu3895Ile)
c.11782C>A (p.Leu3928Ile)
c.11539C>A (p.Leu3847Ile)
c.11314C>A (p.Leu3772Ile)
c.9313C>A (p.Leu3105Ile)
c.8542C>A (p.Leu2848Ile)
c.5914C>A (p.Leu1972Ile)
c.4963C>A (p.Leu1655Ile)
15g.28141751T>ACA391381836HERC2c.11796A>T (p.Gln3932His)
c.3507A>T (p.Gln1169His)
n.311A>T
c.11682A>T (p.Gln3894His)
c.11781A>T (p.Gln3927His)
c.11538A>T (p.Gln3846His)
c.11313A>T (p.Gln3771His)
c.9312A>T (p.Gln3104His)
c.8541A>T (p.Gln2847His)
c.5913A>T (p.Gln1971His)
c.4962A>T (p.Gln1654His)
15g.28141751T>CCA489235014HERC2c.11796A>G (p.Gln3932=)
c.3507A>G (p.Gln1169=)
n.311A>G
c.11682A>G (p.Gln3894=)
c.11781A>G (p.Gln3927=)
c.11538A>G (p.Gln3846=)
c.11313A>G (p.Gln3771=)
c.9312A>G (p.Gln3104=)
c.8541A>G (p.Gln2847=)
c.5913A>G (p.Gln1971=)
c.4962A>G (p.Gln1654=)
15g.28141751T>GCA391381837HERC2c.11796A>C (p.Gln3932His)
c.3507A>C (p.Gln1169His)
n.311A>C
c.11682A>C (p.Gln3894His)
c.11781A>C (p.Gln3927His)
c.11538A>C (p.Gln3846His)
c.11313A>C (p.Gln3771His)
c.9312A>C (p.Gln3104His)
c.8541A>C (p.Gln2847His)
c.5913A>C (p.Gln1971His)
c.4962A>C (p.Gln1654His)
15g.28141752T>ACA391381838HERC2c.11795A>T (p.Gln3932Leu)
c.3506A>T (p.Gln1169Leu)
n.310A>T
c.11681A>T (p.Gln3894Leu)
c.11780A>T (p.Gln3927Leu)
c.11537A>T (p.Gln3846Leu)
c.11312A>T (p.Gln3771Leu)
c.9311A>T (p.Gln3104Leu)
c.8540A>T (p.Gln2847Leu)
c.5912A>T (p.Gln1971Leu)
c.4961A>T (p.Gln1654Leu)
15g.28141752T>CCA391381839HERC2c.11795A>G (p.Gln3932Arg)
c.3506A>G (p.Gln1169Arg)
n.310A>G
c.11681A>G (p.Gln3894Arg)
c.11780A>G (p.Gln3927Arg)
c.11537A>G (p.Gln3846Arg)
c.11312A>G (p.Gln3771Arg)
c.9311A>G (p.Gln3104Arg)
c.8540A>G (p.Gln2847Arg)
c.5912A>G (p.Gln1971Arg)
c.4961A>G (p.Gln1654Arg)
15g.28141752T>GCA391381840HERC2c.11795A>C (p.Gln3932Pro)
c.3506A>C (p.Gln1169Pro)
n.310A>C
c.11681A>C (p.Gln3894Pro)
c.11780A>C (p.Gln3927Pro)
c.11537A>C (p.Gln3846Pro)
c.11312A>C (p.Gln3771Pro)
c.9311A>C (p.Gln3104Pro)
c.8540A>C (p.Gln2847Pro)
c.5912A>C (p.Gln1971Pro)
c.4961A>C (p.Gln1654Pro)
15g.28141753G>ACA391381841HERC2c.11794C>T (p.Gln3932Ter)
c.3505C>T (p.Gln1169Ter)
n.309C>T
c.11680C>T (p.Gln3894Ter)
c.11779C>T (p.Gln3927Ter)
c.11536C>T (p.Gln3846Ter)
c.11311C>T (p.Gln3771Ter)
c.9310C>T (p.Gln3104Ter)
c.8539C>T (p.Gln2847Ter)
c.5911C>T (p.Gln1971Ter)
c.4960C>T (p.Gln1654Ter)
15g.28141753G>CCA391381843HERC2c.11794C>G (p.Gln3932Glu)
c.3505C>G (p.Gln1169Glu)
n.309C>G
c.11680C>G (p.Gln3894Glu)
c.11779C>G (p.Gln3927Glu)
c.11536C>G (p.Gln3846Glu)
c.11311C>G (p.Gln3771Glu)
c.9310C>G (p.Gln3104Glu)
c.8539C>G (p.Gln2847Glu)
c.5911C>G (p.Gln1971Glu)
c.4960C>G (p.Gln1654Glu)
15g.28141753G>TCA391381842HERC2c.11794C>A (p.Gln3932Lys)
c.3505C>A (p.Gln1169Lys)
n.309C>A
c.11680C>A (p.Gln3894Lys)
c.11779C>A (p.Gln3927Lys)
c.11536C>A (p.Gln3846Lys)
c.11311C>A (p.Gln3771Lys)
c.9310C>A (p.Gln3104Lys)
c.8539C>A (p.Gln2847Lys)
c.5911C>A (p.Gln1971Lys)
c.4960C>A (p.Gln1654Lys)
15g.28141754T>ACA391381844HERC2c.11793A>T (p.Glu3931Asp)
c.3504A>T (p.Glu1168Asp)
n.308A>T
c.11679A>T (p.Glu3893Asp)
c.11778A>T (p.Glu3926Asp)
c.11535A>T (p.Glu3845Asp)
c.11310A>T (p.Glu3770Asp)
c.9309A>T (p.Glu3103Asp)
c.8538A>T (p.Glu2846Asp)
c.5910A>T (p.Glu1970Asp)
c.4959A>T (p.Glu1653Asp)
15g.28141754T>CCA489235018HERC2c.11793A>G (p.Glu3931=)
c.3504A>G (p.Glu1168=)
n.308A>G
c.11679A>G (p.Glu3893=)
c.11778A>G (p.Glu3926=)
c.11535A>G (p.Glu3845=)
c.11310A>G (p.Glu3770=)
c.9309A>G (p.Glu3103=)
c.8538A>G (p.Glu2846=)
c.5910A>G (p.Glu1970=)
c.4959A>G (p.Glu1653=)
15g.28141754T>GCA391381845HERC2c.11793A>C (p.Glu3931Asp)
c.3504A>C (p.Glu1168Asp)
n.308A>C
c.11679A>C (p.Glu3893Asp)
c.11778A>C (p.Glu3926Asp)
c.11535A>C (p.Glu3845Asp)
c.11310A>C (p.Glu3770Asp)
c.9309A>C (p.Glu3103Asp)
c.8538A>C (p.Glu2846Asp)
c.5910A>C (p.Glu1970Asp)
c.4959A>C (p.Glu1653Asp)
15g.28141755T>ACA391381846HERC2c.11792A>T (p.Glu3931Val)
c.3503A>T (p.Glu1168Val)
n.307A>T
c.11678A>T (p.Glu3893Val)
c.11777A>T (p.Glu3926Val)
c.11534A>T (p.Glu3845Val)
c.11309A>T (p.Glu3770Val)
c.9308A>T (p.Glu3103Val)
c.8537A>T (p.Glu2846Val)
c.5909A>T (p.Glu1970Val)
c.4958A>T (p.Glu1653Val)
15g.28141755T>CCA391381847HERC2c.11792A>G (p.Glu3931Gly)
c.3503A>G (p.Glu1168Gly)
n.307A>G
c.11678A>G (p.Glu3893Gly)
c.11777A>G (p.Glu3926Gly)
c.11534A>G (p.Glu3845Gly)
c.11309A>G (p.Glu3770Gly)
c.9308A>G (p.Glu3103Gly)
c.8537A>G (p.Glu2846Gly)
c.5909A>G (p.Glu1970Gly)
c.4958A>G (p.Glu1653Gly)
15g.28141755T>GCA391381848HERC2c.11792A>C (p.Glu3931Ala)
c.3503A>C (p.Glu1168Ala)
n.307A>C
c.11678A>C (p.Glu3893Ala)
c.11777A>C (p.Glu3926Ala)
c.11534A>C (p.Glu3845Ala)
c.11309A>C (p.Glu3770Ala)
c.9308A>C (p.Glu3103Ala)
c.8537A>C (p.Glu2846Ala)
c.5909A>C (p.Glu1970Ala)
c.4958A>C (p.Glu1653Ala)
15g.28141756C>ACA391381849HERC2c.11791G>T (p.Glu3931Ter)
c.3502G>T (p.Glu1168Ter)
n.306G>T
c.11677G>T (p.Glu3893Ter)
c.11776G>T (p.Glu3926Ter)
c.11533G>T (p.Glu3845Ter)
c.11308G>T (p.Glu3770Ter)
c.9307G>T (p.Glu3103Ter)
c.8536G>T (p.Glu2846Ter)
c.5908G>T (p.Glu1970Ter)
c.4957G>T (p.Glu1653Ter)
 gnomAD v4
15g.28141756C=CA2166480085HERC2c.11791G= (p.Glu3931=)
c.3502G= (p.Glu1168=)
n.306G=
c.11677G= (p.Glu3893=)
c.11776G= (p.Glu3926=)
c.11533G= (p.Glu3845=)
c.11308G= (p.Glu3770=)
c.9307G= (p.Glu3103=)
c.8536G= (p.Glu2846=)
c.5908G= (p.Glu1970=)
c.4957G= (p.Glu1653=)
15g.28141756C>GCA391381850HERC2c.11791G>C (p.Glu3931Gln)
c.3502G>C (p.Glu1168Gln)
n.306G>C
c.11677G>C (p.Glu3893Gln)
c.11776G>C (p.Glu3926Gln)
c.11533G>C (p.Glu3845Gln)
c.11308G>C (p.Glu3770Gln)
c.9307G>C (p.Glu3103Gln)
c.8536G>C (p.Glu2846Gln)
c.5908G>C (p.Glu1970Gln)
c.4957G>C (p.Glu1653Gln)
15g.28141756C>TCA391381851HERC2c.11791G>A (p.Glu3931Lys)
c.3502G>A (p.Glu1168Lys)
n.306G>A
c.11677G>A (p.Glu3893Lys)
c.11776G>A (p.Glu3926Lys)
c.11533G>A (p.Glu3845Lys)
c.11308G>A (p.Glu3770Lys)
c.9307G>A (p.Glu3103Lys)
c.8536G>A (p.Glu2846Lys)
c.5908G>A (p.Glu1970Lys)
c.4957G>A (p.Glu1653Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.28141757G>ACA7440468HERC2c.11790C>T (p.Asp3930=)
c.3501C>T (p.Asp1167=)
n.305C>T
c.11676C>T (p.Asp3892=)
c.11775C>T (p.Asp3925=)
c.11532C>T (p.Asp3844=)
c.11307C>T (p.Asp3769=)
c.9306C>T (p.Asp3102=)
c.8535C>T (p.Asp2845=)
c.5907C>T (p.Asp1969=)
c.4956C>T (p.Asp1652=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141757G>CCA391381852HERC2c.11790C>G (p.Asp3930Glu)
c.3501C>G (p.Asp1167Glu)
n.305C>G
c.11676C>G (p.Asp3892Glu)
c.11775C>G (p.Asp3925Glu)
c.11532C>G (p.Asp3844Glu)
c.11307C>G (p.Asp3769Glu)
c.9306C>G (p.Asp3102Glu)
c.8535C>G (p.Asp2845Glu)
c.5907C>G (p.Asp1969Glu)
c.4956C>G (p.Asp1652Glu)
15g.28141757G=CA2166480087HERC2c.11790C= (p.Asp3930=)
c.3501C= (p.Asp1167=)
n.305C=
c.11676C= (p.Asp3892=)
c.11775C= (p.Asp3925=)
c.11532C= (p.Asp3844=)
c.11307C= (p.Asp3769=)
c.9306C= (p.Asp3102=)
c.8535C= (p.Asp2845=)
c.5907C= (p.Asp1969=)
c.4956C= (p.Asp1652=)
15g.28141757G>TCA391381853HERC2c.11790C>A (p.Asp3930Glu)
c.3501C>A (p.Asp1167Glu)
n.305C>A
c.11676C>A (p.Asp3892Glu)
c.11775C>A (p.Asp3925Glu)
c.11532C>A (p.Asp3844Glu)
c.11307C>A (p.Asp3769Glu)
c.9306C>A (p.Asp3102Glu)
c.8535C>A (p.Asp2845Glu)
c.5907C>A (p.Asp1969Glu)
c.4956C>A (p.Asp1652Glu)
15g.28141758T>ACA391381856HERC2c.11789A>T (p.Asp3930Val)
c.3500A>T (p.Asp1167Val)
n.304A>T
c.11675A>T (p.Asp3892Val)
c.11774A>T (p.Asp3925Val)
c.11531A>T (p.Asp3844Val)
c.11306A>T (p.Asp3769Val)
c.9305A>T (p.Asp3102Val)
c.8534A>T (p.Asp2845Val)
c.5906A>T (p.Asp1969Val)
c.4955A>T (p.Asp1652Val)
15g.28141758T>CCA391381855HERC2c.11789A>G (p.Asp3930Gly)
c.3500A>G (p.Asp1167Gly)
n.304A>G
c.11675A>G (p.Asp3892Gly)
c.11774A>G (p.Asp3925Gly)
c.11531A>G (p.Asp3844Gly)
c.11306A>G (p.Asp3769Gly)
c.9305A>G (p.Asp3102Gly)
c.8534A>G (p.Asp2845Gly)
c.5906A>G (p.Asp1969Gly)
c.4955A>G (p.Asp1652Gly)
15g.28141758T>GCA391381854HERC2c.11789A>C (p.Asp3930Ala)
c.3500A>C (p.Asp1167Ala)
n.304A>C
c.11675A>C (p.Asp3892Ala)
c.11774A>C (p.Asp3925Ala)
c.11531A>C (p.Asp3844Ala)
c.11306A>C (p.Asp3769Ala)
c.9305A>C (p.Asp3102Ala)
c.8534A>C (p.Asp2845Ala)
c.5906A>C (p.Asp1969Ala)
c.4955A>C (p.Asp1652Ala)
15g.28141759C>ACA391381857HERC2c.11788G>T (p.Asp3930Tyr)
c.3499G>T (p.Asp1167Tyr)
n.303G>T
c.11674G>T (p.Asp3892Tyr)
c.11773G>T (p.Asp3925Tyr)
c.11530G>T (p.Asp3844Tyr)
c.11305G>T (p.Asp3769Tyr)
c.9304G>T (p.Asp3102Tyr)
c.8533G>T (p.Asp2845Tyr)
c.5905G>T (p.Asp1969Tyr)
c.4954G>T (p.Asp1652Tyr)
15g.28141759C>GCA391381859HERC2c.11788G>C (p.Asp3930His)
c.3499G>C (p.Asp1167His)
n.303G>C
c.11674G>C (p.Asp3892His)
c.11773G>C (p.Asp3925His)
c.11530G>C (p.Asp3844His)
c.11305G>C (p.Asp3769His)
c.9304G>C (p.Asp3102His)
c.8533G>C (p.Asp2845His)
c.5905G>C (p.Asp1969His)
c.4954G>C (p.Asp1652His)
15g.28141759C>TCA391381858HERC2c.11788G>A (p.Asp3930Asn)
c.3499G>A (p.Asp1167Asn)
n.303G>A
c.11674G>A (p.Asp3892Asn)
c.11773G>A (p.Asp3925Asn)
c.11530G>A (p.Asp3844Asn)
c.11305G>A (p.Asp3769Asn)
c.9304G>A (p.Asp3102Asn)
c.8533G>A (p.Asp2845Asn)
c.5905G>A (p.Asp1969Asn)
c.4954G>A (p.Asp1652Asn)
 gnomAD v4
15g.28141760T>ACA391381860HERC2c.11787A>T (p.Gln3929His)
c.3498A>T (p.Gln1166His)
n.302A>T
c.11673A>T (p.Gln3891His)
c.11772A>T (p.Gln3924His)
c.11529A>T (p.Gln3843His)
c.11304A>T (p.Gln3768His)
c.9303A>T (p.Gln3101His)
c.8532A>T (p.Gln2844His)
c.5904A>T (p.Gln1968His)
c.4953A>T (p.Gln1651His)
15g.28141760T>CCA489235022HERC2c.11787A>G (p.Gln3929=)
c.3498A>G (p.Gln1166=)
n.302A>G
c.11673A>G (p.Gln3891=)
c.11772A>G (p.Gln3924=)
c.11529A>G (p.Gln3843=)
c.11304A>G (p.Gln3768=)
c.9303A>G (p.Gln3101=)
c.8532A>G (p.Gln2844=)
c.5904A>G (p.Gln1968=)
c.4953A>G (p.Gln1651=)
15g.28141760T>GCA391381861HERC2c.11787A>C (p.Gln3929His)
c.3498A>C (p.Gln1166His)
n.302A>C
c.11673A>C (p.Gln3891His)
c.11772A>C (p.Gln3924His)
c.11529A>C (p.Gln3843His)
c.11304A>C (p.Gln3768His)
c.9303A>C (p.Gln3101His)
c.8532A>C (p.Gln2844His)
c.5904A>C (p.Gln1968His)
c.4953A>C (p.Gln1651His)
15g.28141761T>ACA391381862HERC2c.11786A>T (p.Gln3929Leu)
c.3497A>T (p.Gln1166Leu)
n.301A>T
c.11672A>T (p.Gln3891Leu)
c.11771A>T (p.Gln3924Leu)
c.11528A>T (p.Gln3843Leu)
c.11303A>T (p.Gln3768Leu)
c.9302A>T (p.Gln3101Leu)
c.8531A>T (p.Gln2844Leu)
c.5903A>T (p.Gln1968Leu)
c.4952A>T (p.Gln1651Leu)
15g.28141761T>CCA391381863HERC2c.11786A>G (p.Gln3929Arg)
c.3497A>G (p.Gln1166Arg)
n.301A>G
c.11672A>G (p.Gln3891Arg)
c.11771A>G (p.Gln3924Arg)
c.11528A>G (p.Gln3843Arg)
c.11303A>G (p.Gln3768Arg)
c.9302A>G (p.Gln3101Arg)
c.8531A>G (p.Gln2844Arg)
c.5903A>G (p.Gln1968Arg)
c.4952A>G (p.Gln1651Arg)
 gnomAD v4
15g.28141761T>GCA391381864HERC2c.11786A>C (p.Gln3929Pro)
c.3497A>C (p.Gln1166Pro)
n.301A>C
c.11672A>C (p.Gln3891Pro)
c.11771A>C (p.Gln3924Pro)
c.11528A>C (p.Gln3843Pro)
c.11303A>C (p.Gln3768Pro)
c.9302A>C (p.Gln3101Pro)
c.8531A>C (p.Gln2844Pro)
c.5903A>C (p.Gln1968Pro)
c.4952A>C (p.Gln1651Pro)
 gnomAD v4
15g.28141762G>ACA391381865HERC2c.11785C>T (p.Gln3929Ter)
c.3496C>T (p.Gln1166Ter)
n.300C>T
c.11671C>T (p.Gln3891Ter)
c.11770C>T (p.Gln3924Ter)
c.11527C>T (p.Gln3843Ter)
c.11302C>T (p.Gln3768Ter)
c.9301C>T (p.Gln3101Ter)
c.8530C>T (p.Gln2844Ter)
c.5902C>T (p.Gln1968Ter)
c.4951C>T (p.Gln1651Ter)
15g.28141762G>CCA391381866HERC2c.11785C>G (p.Gln3929Glu)
c.3496C>G (p.Gln1166Glu)
n.300C>G
c.11671C>G (p.Gln3891Glu)
c.11770C>G (p.Gln3924Glu)
c.11527C>G (p.Gln3843Glu)
c.11302C>G (p.Gln3768Glu)
c.9301C>G (p.Gln3101Glu)
c.8530C>G (p.Gln2844Glu)
c.5902C>G (p.Gln1968Glu)
c.4951C>G (p.Gln1651Glu)
 gnomAD v4
15g.28141762G=CA2166480088HERC2c.11785C= (p.Gln3929=)
c.3496C= (p.Gln1166=)
n.300C=
c.11671C= (p.Gln3891=)
c.11770C= (p.Gln3924=)
c.11527C= (p.Gln3843=)
c.11302C= (p.Gln3768=)
c.9301C= (p.Gln3101=)
c.8530C= (p.Gln2844=)
c.5902C= (p.Gln1968=)
c.4951C= (p.Gln1651=)
15g.28141762G>TCA391381867HERC2c.11785C>A (p.Gln3929Lys)
c.3496C>A (p.Gln1166Lys)
n.300C>A
c.11671C>A (p.Gln3891Lys)
c.11770C>A (p.Gln3924Lys)
c.11527C>A (p.Gln3843Lys)
c.11302C>A (p.Gln3768Lys)
c.9301C>A (p.Gln3101Lys)
c.8530C>A (p.Gln2844Lys)
c.5902C>A (p.Gln1968Lys)
c.4951C>A (p.Gln1651Lys)
 dbSNP gnomAD v4
15g.28141763C>ACA391381868HERC2c.11784G>T (p.Glu3928Asp)
c.3495G>T (p.Glu1165Asp)
n.299G>T
c.11670G>T (p.Glu3890Asp)
c.11769G>T (p.Glu3923Asp)
c.11526G>T (p.Glu3842Asp)
c.11301G>T (p.Glu3767Asp)
c.9300G>T (p.Glu3100Asp)
c.8529G>T (p.Glu2843Asp)
c.5901G>T (p.Glu1967Asp)
c.4950G>T (p.Glu1650Asp)
15g.28141763C>GCA391381869HERC2c.11784G>C (p.Glu3928Asp)
c.3495G>C (p.Glu1165Asp)
n.299G>C
c.11670G>C (p.Glu3890Asp)
c.11769G>C (p.Glu3923Asp)
c.11526G>C (p.Glu3842Asp)
c.11301G>C (p.Glu3767Asp)
c.9300G>C (p.Glu3100Asp)
c.8529G>C (p.Glu2843Asp)
c.5901G>C (p.Glu1967Asp)
c.4950G>C (p.Glu1650Asp)
15g.28141763C>TCA489235023HERC2c.11784G>A (p.Glu3928=)
c.3495G>A (p.Glu1165=)
n.299G>A
c.11670G>A (p.Glu3890=)
c.11769G>A (p.Glu3923=)
c.11526G>A (p.Glu3842=)
c.11301G>A (p.Glu3767=)
c.9300G>A (p.Glu3100=)
c.8529G>A (p.Glu2843=)
c.5901G>A (p.Glu1967=)
c.4950G>A (p.Glu1650=)
 gnomAD v4
15g.28141764T>ACA391381870HERC2c.11783A>T (p.Glu3928Val)
c.3494A>T (p.Glu1165Val)
n.298A>T
c.11669A>T (p.Glu3890Val)
c.11768A>T (p.Glu3923Val)
c.11525A>T (p.Glu3842Val)
c.11300A>T (p.Glu3767Val)
c.9299A>T (p.Glu3100Val)
c.8528A>T (p.Glu2843Val)
c.5900A>T (p.Glu1967Val)
c.4949A>T (p.Glu1650Val)
15g.28141764T>CCA391381871HERC2c.11783A>G (p.Glu3928Gly)
c.3494A>G (p.Glu1165Gly)
n.298A>G
c.11669A>G (p.Glu3890Gly)
c.11768A>G (p.Glu3923Gly)
c.11525A>G (p.Glu3842Gly)
c.11300A>G (p.Glu3767Gly)
c.9299A>G (p.Glu3100Gly)
c.8528A>G (p.Glu2843Gly)
c.5900A>G (p.Glu1967Gly)
c.4949A>G (p.Glu1650Gly)
 gnomAD v4
15g.28141764T>GCA391381872HERC2c.11783A>C (p.Glu3928Ala)
c.3494A>C (p.Glu1165Ala)
n.298A>C
c.11669A>C (p.Glu3890Ala)
c.11768A>C (p.Glu3923Ala)
c.11525A>C (p.Glu3842Ala)
c.11300A>C (p.Glu3767Ala)
c.9299A>C (p.Glu3100Ala)
c.8528A>C (p.Glu2843Ala)
c.5900A>C (p.Glu1967Ala)
c.4949A>C (p.Glu1650Ala)
15g.28141765C>ACA391381873HERC2c.11782G>T (p.Glu3928Ter)
c.3493G>T (p.Glu1165Ter)
n.297G>T
c.11668G>T (p.Glu3890Ter)
c.11767G>T (p.Glu3923Ter)
c.11524G>T (p.Glu3842Ter)
c.11299G>T (p.Glu3767Ter)
c.9298G>T (p.Glu3100Ter)
c.8527G>T (p.Glu2843Ter)
c.5899G>T (p.Glu1967Ter)
c.4948G>T (p.Glu1650Ter)
15g.28141765C=CA2166480089HERC2c.11782G= (p.Glu3928=)
c.3493G= (p.Glu1165=)
n.297G=
c.11668G= (p.Glu3890=)
c.11767G= (p.Glu3923=)
c.11524G= (p.Glu3842=)
c.11299G= (p.Glu3767=)
c.9298G= (p.Glu3100=)
c.8527G= (p.Glu2843=)
c.5899G= (p.Glu1967=)
c.4948G= (p.Glu1650=)
15g.28141765C>GCA7440469HERC2c.11782G>C (p.Glu3928Gln)
c.3493G>C (p.Glu1165Gln)
n.297G>C
c.11668G>C (p.Glu3890Gln)
c.11767G>C (p.Glu3923Gln)
c.11524G>C (p.Glu3842Gln)
c.11299G>C (p.Glu3767Gln)
c.9298G>C (p.Glu3100Gln)
c.8527G>C (p.Glu2843Gln)
c.5899G>C (p.Glu1967Gln)
c.4948G>C (p.Glu1650Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141765C>TCA391381874HERC2c.11782G>A (p.Glu3928Lys)
c.3493G>A (p.Glu1165Lys)
n.297G>A
c.11668G>A (p.Glu3890Lys)
c.11767G>A (p.Glu3923Lys)
c.11524G>A (p.Glu3842Lys)
c.11299G>A (p.Glu3767Lys)
c.9298G>A (p.Glu3100Lys)
c.8527G>A (p.Glu2843Lys)
c.5899G>A (p.Glu1967Lys)
c.4948G>A (p.Glu1650Lys)
15g.28141766T>ACA391381875HERC2c.11781A>T (p.Arg3927Ser)
c.3492A>T (p.Arg1164Ser)
n.296A>T
c.11667A>T (p.Arg3889Ser)
c.11766A>T (p.Arg3922Ser)
c.11523A>T (p.Arg3841Ser)
c.11298A>T (p.Arg3766Ser)
c.9297A>T (p.Arg3099Ser)
c.8526A>T (p.Arg2842Ser)
c.5898A>T (p.Arg1966Ser)
c.4947A>T (p.Arg1649Ser)
15g.28141766T>CCA489235025HERC2c.11781A>G (p.Arg3927=)
c.3492A>G (p.Arg1164=)
n.296A>G
c.11667A>G (p.Arg3889=)
c.11766A>G (p.Arg3922=)
c.11523A>G (p.Arg3841=)
c.11298A>G (p.Arg3766=)
c.9297A>G (p.Arg3099=)
c.8526A>G (p.Arg2842=)
c.5898A>G (p.Arg1966=)
c.4947A>G (p.Arg1649=)
15g.28141766T>GCA391381876HERC2c.11781A>C (p.Arg3927Ser)
c.3492A>C (p.Arg1164Ser)
n.296A>C
c.11667A>C (p.Arg3889Ser)
c.11766A>C (p.Arg3922Ser)
c.11523A>C (p.Arg3841Ser)
c.11298A>C (p.Arg3766Ser)
c.9297A>C (p.Arg3099Ser)
c.8526A>C (p.Arg2842Ser)
c.5898A>C (p.Arg1966Ser)
c.4947A>C (p.Arg1649Ser)
15g.28141767C>ACA391381877HERC2c.11780G>T (p.Arg3927Ile)
c.3491G>T (p.Arg1164Ile)
n.295G>T
c.11666G>T (p.Arg3889Ile)
c.11765G>T (p.Arg3922Ile)
c.11522G>T (p.Arg3841Ile)
c.11297G>T (p.Arg3766Ile)
c.9296G>T (p.Arg3099Ile)
c.8525G>T (p.Arg2842Ile)
c.5897G>T (p.Arg1966Ile)
c.4946G>T (p.Arg1649Ile)
15g.28141767C>GCA391381878HERC2c.11780G>C (p.Arg3927Thr)
c.3491G>C (p.Arg1164Thr)
n.295G>C
c.11666G>C (p.Arg3889Thr)
c.11765G>C (p.Arg3922Thr)
c.11522G>C (p.Arg3841Thr)
c.11297G>C (p.Arg3766Thr)
c.9296G>C (p.Arg3099Thr)
c.8525G>C (p.Arg2842Thr)
c.5897G>C (p.Arg1966Thr)
c.4946G>C (p.Arg1649Thr)
15g.28141767C>TCA391381879HERC2c.11780G>A (p.Arg3927Lys)
c.3491G>A (p.Arg1164Lys)
n.295G>A
c.11666G>A (p.Arg3889Lys)
c.11765G>A (p.Arg3922Lys)
c.11522G>A (p.Arg3841Lys)
c.11297G>A (p.Arg3766Lys)
c.9296G>A (p.Arg3099Lys)
c.8525G>A (p.Arg2842Lys)
c.5897G>A (p.Arg1966Lys)
c.4946G>A (p.Arg1649Lys)
15g.28141768T>ACA391381880HERC2c.11779A>T (p.Arg3927Ter)
c.3490A>T (p.Arg1164Ter)
n.294A>T
c.11665A>T (p.Arg3889Ter)
c.11764A>T (p.Arg3922Ter)
c.11521A>T (p.Arg3841Ter)
c.11296A>T (p.Arg3766Ter)
c.9295A>T (p.Arg3099Ter)
c.8524A>T (p.Arg2842Ter)
c.5896A>T (p.Arg1966Ter)
c.4945A>T (p.Arg1649Ter)
15g.28141768T>CCA391381881HERC2c.11779A>G (p.Arg3927Gly)
c.3490A>G (p.Arg1164Gly)
n.294A>G
c.11665A>G (p.Arg3889Gly)
c.11764A>G (p.Arg3922Gly)
c.11521A>G (p.Arg3841Gly)
c.11296A>G (p.Arg3766Gly)
c.9295A>G (p.Arg3099Gly)
c.8524A>G (p.Arg2842Gly)
c.5896A>G (p.Arg1966Gly)
c.4945A>G (p.Arg1649Gly)
15g.28141768T>GCA489235027HERC2c.11779A>C (p.Arg3927=)
c.3490A>C (p.Arg1164=)
n.294A>C
c.11665A>C (p.Arg3889=)
c.11764A>C (p.Arg3922=)
c.11521A>C (p.Arg3841=)
c.11296A>C (p.Arg3766=)
c.9295A>C (p.Arg3099=)
c.8524A>C (p.Arg2842=)
c.5896A>C (p.Arg1966=)
c.4945A>C (p.Arg1649=)
15g.28141769T>ACA391381882HERC2c.11778A>T (p.Lys3926Asn)
c.3489A>T (p.Lys1163Asn)
n.293A>T
c.11664A>T (p.Lys3888Asn)
c.11763A>T (p.Lys3921Asn)
c.11520A>T (p.Lys3840Asn)
c.11295A>T (p.Lys3765Asn)
c.9294A>T (p.Lys3098Asn)
c.8523A>T (p.Lys2841Asn)
c.5895A>T (p.Lys1965Asn)
c.4944A>T (p.Lys1648Asn)
15g.28141769T>CCA489235028HERC2c.11778A>G (p.Lys3926=)
c.3489A>G (p.Lys1163=)
n.293A>G
c.11664A>G (p.Lys3888=)
c.11763A>G (p.Lys3921=)
c.11520A>G (p.Lys3840=)
c.11295A>G (p.Lys3765=)
c.9294A>G (p.Lys3098=)
c.8523A>G (p.Lys2841=)
c.5895A>G (p.Lys1965=)
c.4944A>G (p.Lys1648=)
 dbSNP gnomAD v2 gnomAD v4
15g.28141769T>GCA391381883HERC2c.11778A>C (p.Lys3926Asn)
c.3489A>C (p.Lys1163Asn)
n.293A>C
c.11664A>C (p.Lys3888Asn)
c.11763A>C (p.Lys3921Asn)
c.11520A>C (p.Lys3840Asn)
c.11295A>C (p.Lys3765Asn)
c.9294A>C (p.Lys3098Asn)
c.8523A>C (p.Lys2841Asn)
c.5895A>C (p.Lys1965Asn)
c.4944A>C (p.Lys1648Asn)
15g.28141769T=CA2166480090HERC2c.11778A= (p.Lys3926=)
c.3489A= (p.Lys1163=)
n.293A=
c.11664A= (p.Lys3888=)
c.11763A= (p.Lys3921=)
c.11520A= (p.Lys3840=)
c.11295A= (p.Lys3765=)
c.9294A= (p.Lys3098=)
c.8523A= (p.Lys2841=)
c.5895A= (p.Lys1965=)
c.4944A= (p.Lys1648=)
15g.28141770T>ACA391381884HERC2c.11777A>T (p.Lys3926Ile)
c.3488A>T (p.Lys1163Ile)
n.292A>T
c.11663A>T (p.Lys3888Ile)
c.11762A>T (p.Lys3921Ile)
c.11519A>T (p.Lys3840Ile)
c.11294A>T (p.Lys3765Ile)
c.9293A>T (p.Lys3098Ile)
c.8522A>T (p.Lys2841Ile)
c.5894A>T (p.Lys1965Ile)
c.4943A>T (p.Lys1648Ile)
15g.28141770T>CCA391381885HERC2c.11777A>G (p.Lys3926Arg)
c.3488A>G (p.Lys1163Arg)
n.292A>G
c.11663A>G (p.Lys3888Arg)
c.11762A>G (p.Lys3921Arg)
c.11519A>G (p.Lys3840Arg)
c.11294A>G (p.Lys3765Arg)
c.9293A>G (p.Lys3098Arg)
c.8522A>G (p.Lys2841Arg)
c.5894A>G (p.Lys1965Arg)
c.4943A>G (p.Lys1648Arg)
15g.28141770T>GCA391381886HERC2c.11777A>C (p.Lys3926Thr)
c.3488A>C (p.Lys1163Thr)
n.292A>C
c.11663A>C (p.Lys3888Thr)
c.11762A>C (p.Lys3921Thr)
c.11519A>C (p.Lys3840Thr)
c.11294A>C (p.Lys3765Thr)
c.9293A>C (p.Lys3098Thr)
c.8522A>C (p.Lys2841Thr)
c.5894A>C (p.Lys1965Thr)
c.4943A>C (p.Lys1648Thr)
15g.28141771T>ACA391381887HERC2c.11776A>T (p.Lys3926Ter)
c.3487A>T (p.Lys1163Ter)
n.291A>T
c.11662A>T (p.Lys3888Ter)
c.11761A>T (p.Lys3921Ter)
c.11518A>T (p.Lys3840Ter)
c.11293A>T (p.Lys3765Ter)
c.9292A>T (p.Lys3098Ter)
c.8521A>T (p.Lys2841Ter)
c.5893A>T (p.Lys1965Ter)
c.4942A>T (p.Lys1648Ter)
15g.28141771T>CCA391381888HERC2c.11776A>G (p.Lys3926Glu)
c.3487A>G (p.Lys1163Glu)
n.291A>G
c.11662A>G (p.Lys3888Glu)
c.11761A>G (p.Lys3921Glu)
c.11518A>G (p.Lys3840Glu)
c.11293A>G (p.Lys3765Glu)
c.9292A>G (p.Lys3098Glu)
c.8521A>G (p.Lys2841Glu)
c.5893A>G (p.Lys1965Glu)
c.4942A>G (p.Lys1648Glu)
15g.28141771T>GCA391381889HERC2c.11776A>C (p.Lys3926Gln)
c.3487A>C (p.Lys1163Gln)
n.291A>C
c.11662A>C (p.Lys3888Gln)
c.11761A>C (p.Lys3921Gln)
c.11518A>C (p.Lys3840Gln)
c.11293A>C (p.Lys3765Gln)
c.9292A>C (p.Lys3098Gln)
c.8521A>C (p.Lys2841Gln)
c.5893A>C (p.Lys1965Gln)
c.4942A>C (p.Lys1648Gln)
15g.28141772A=CA2166480091HERC2c.11775T= (p.Phe3925=)
c.3486T= (p.Phe1162=)
n.290T=
c.11661T= (p.Phe3887=)
c.11760T= (p.Phe3920=)
c.11517T= (p.Phe3839=)
c.11292T= (p.Phe3764=)
c.9291T= (p.Phe3097=)
c.8520T= (p.Phe2840=)
c.5892T= (p.Phe1964=)
c.4941T= (p.Phe1647=)
15g.28141772A>CCA391381890HERC2c.11775T>G (p.Phe3925Leu)
c.3486T>G (p.Phe1162Leu)
n.290T>G
c.11661T>G (p.Phe3887Leu)
c.11760T>G (p.Phe3920Leu)
c.11517T>G (p.Phe3839Leu)
c.11292T>G (p.Phe3764Leu)
c.9291T>G (p.Phe3097Leu)
c.8520T>G (p.Phe2840Leu)
c.5892T>G (p.Phe1964Leu)
c.4941T>G (p.Phe1647Leu)
15g.28141772A>GCA7440470HERC2c.11775T>C (p.Phe3925=)
c.3486T>C (p.Phe1162=)
n.290T>C
c.11661T>C (p.Phe3887=)
c.11760T>C (p.Phe3920=)
c.11517T>C (p.Phe3839=)
c.11292T>C (p.Phe3764=)
c.9291T>C (p.Phe3097=)
c.8520T>C (p.Phe2840=)
c.5892T>C (p.Phe1964=)
c.4941T>C (p.Phe1647=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141772A>TCA391381891HERC2c.11775T>A (p.Phe3925Leu)
c.3486T>A (p.Phe1162Leu)
n.290T>A
c.11661T>A (p.Phe3887Leu)
c.11760T>A (p.Phe3920Leu)
c.11517T>A (p.Phe3839Leu)
c.11292T>A (p.Phe3764Leu)
c.9291T>A (p.Phe3097Leu)
c.8520T>A (p.Phe2840Leu)
c.5892T>A (p.Phe1964Leu)
c.4941T>A (p.Phe1647Leu)
15g.28141773A>CCA391381892HERC2c.11774T>G (p.Phe3925Cys)
c.3485T>G (p.Phe1162Cys)
n.289T>G
c.11660T>G (p.Phe3887Cys)
c.11759T>G (p.Phe3920Cys)
c.11516T>G (p.Phe3839Cys)
c.11291T>G (p.Phe3764Cys)
c.9290T>G (p.Phe3097Cys)
c.8519T>G (p.Phe2840Cys)
c.5891T>G (p.Phe1964Cys)
c.4940T>G (p.Phe1647Cys)
15g.28141773A>GCA391381893HERC2c.11774T>C (p.Phe3925Ser)
c.3485T>C (p.Phe1162Ser)
n.289T>C
c.11660T>C (p.Phe3887Ser)
c.11759T>C (p.Phe3920Ser)
c.11516T>C (p.Phe3839Ser)
c.11291T>C (p.Phe3764Ser)
c.9290T>C (p.Phe3097Ser)
c.8519T>C (p.Phe2840Ser)
c.5891T>C (p.Phe1964Ser)
c.4940T>C (p.Phe1647Ser)
 COSMIC COSMIC
15g.28141773A>TCA391381894HERC2c.11774T>A (p.Phe3925Tyr)
c.3485T>A (p.Phe1162Tyr)
n.289T>A
c.11660T>A (p.Phe3887Tyr)
c.11759T>A (p.Phe3920Tyr)
c.11516T>A (p.Phe3839Tyr)
c.11291T>A (p.Phe3764Tyr)
c.9290T>A (p.Phe3097Tyr)
c.8519T>A (p.Phe2840Tyr)
c.5891T>A (p.Phe1964Tyr)
c.4940T>A (p.Phe1647Tyr)
15g.28141774A>CCA391381895HERC2c.11773T>G (p.Phe3925Val)
c.3484T>G (p.Phe1162Val)
n.288T>G
c.11659T>G (p.Phe3887Val)
c.11758T>G (p.Phe3920Val)
c.11515T>G (p.Phe3839Val)
c.11290T>G (p.Phe3764Val)
c.9289T>G (p.Phe3097Val)
c.8518T>G (p.Phe2840Val)
c.5890T>G (p.Phe1964Val)
c.4939T>G (p.Phe1647Val)
15g.28141774A>GCA391381896HERC2c.11773T>C (p.Phe3925Leu)
c.3484T>C (p.Phe1162Leu)
n.288T>C
c.11659T>C (p.Phe3887Leu)
c.11758T>C (p.Phe3920Leu)
c.11515T>C (p.Phe3839Leu)
c.11290T>C (p.Phe3764Leu)
c.9289T>C (p.Phe3097Leu)
c.8518T>C (p.Phe2840Leu)
c.5890T>C (p.Phe1964Leu)
c.4939T>C (p.Phe1647Leu)
15g.28141774A>TCA391381897HERC2c.11773T>A (p.Phe3925Ile)
c.3484T>A (p.Phe1162Ile)
n.288T>A
c.11659T>A (p.Phe3887Ile)
c.11758T>A (p.Phe3920Ile)
c.11515T>A (p.Phe3839Ile)
c.11290T>A (p.Phe3764Ile)
c.9289T>A (p.Phe3097Ile)
c.8518T>A (p.Phe2840Ile)
c.5890T>A (p.Phe1964Ile)
c.4939T>A (p.Phe1647Ile)
15g.28141775A=CA2166480092HERC2c.11772T= (p.Ile3924=)
c.3483T= (p.Ile1161=)
n.287T=
c.11658T= (p.Ile3886=)
c.11757T= (p.Ile3919=)
c.11514T= (p.Ile3838=)
c.11289T= (p.Ile3763=)
c.9288T= (p.Ile3096=)
c.8517T= (p.Ile2839=)
c.5889T= (p.Ile1963=)
c.4938T= (p.Ile1646=)
15g.28141775A>CCA391381898HERC2c.11772T>G (p.Ile3924Met)
c.3483T>G (p.Ile1161Met)
n.287T>G
c.11658T>G (p.Ile3886Met)
c.11757T>G (p.Ile3919Met)
c.11514T>G (p.Ile3838Met)
c.11289T>G (p.Ile3763Met)
c.9288T>G (p.Ile3096Met)
c.8517T>G (p.Ile2839Met)
c.5889T>G (p.Ile1963Met)
c.4938T>G (p.Ile1646Met)
15g.28141775A>GCA7440471HERC2c.11772T>C (p.Ile3924=)
c.3483T>C (p.Ile1161=)
n.287T>C
c.11658T>C (p.Ile3886=)
c.11757T>C (p.Ile3919=)
c.11514T>C (p.Ile3838=)
c.11289T>C (p.Ile3763=)
c.9288T>C (p.Ile3096=)
c.8517T>C (p.Ile2839=)
c.5889T>C (p.Ile1963=)
c.4938T>C (p.Ile1646=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141775A>TCA489235033HERC2c.11772T>A (p.Ile3924=)
c.3483T>A (p.Ile1161=)
n.287T>A
c.11658T>A (p.Ile3886=)
c.11757T>A (p.Ile3919=)
c.11514T>A (p.Ile3838=)
c.11289T>A (p.Ile3763=)
c.9288T>A (p.Ile3096=)
c.8517T>A (p.Ile2839=)
c.5889T>A (p.Ile1963=)
c.4938T>A (p.Ile1646=)
15g.28141776A=CA2166480093HERC2c.11771T= (p.Ile3924=)
c.3482T= (p.Ile1161=)
n.286T=
c.11657T= (p.Ile3886=)
c.11756T= (p.Ile3919=)
c.11513T= (p.Ile3838=)
c.11288T= (p.Ile3763=)
c.9287T= (p.Ile3096=)
c.8516T= (p.Ile2839=)
c.5888T= (p.Ile1963=)
c.4937T= (p.Ile1646=)
15g.28141776A>CCA391381899HERC2c.11771T>G (p.Ile3924Ser)
c.3482T>G (p.Ile1161Ser)
n.286T>G
c.11657T>G (p.Ile3886Ser)
c.11756T>G (p.Ile3919Ser)
c.11513T>G (p.Ile3838Ser)
c.11288T>G (p.Ile3763Ser)
c.9287T>G (p.Ile3096Ser)
c.8516T>G (p.Ile2839Ser)
c.5888T>G (p.Ile1963Ser)
c.4937T>G (p.Ile1646Ser)
 dbSNP gnomAD v4
15g.28141776A>GCA7440472HERC2c.11771T>C (p.Ile3924Thr)
c.3482T>C (p.Ile1161Thr)
n.286T>C
c.11657T>C (p.Ile3886Thr)
c.11756T>C (p.Ile3919Thr)
c.11513T>C (p.Ile3838Thr)
c.11288T>C (p.Ile3763Thr)
c.9287T>C (p.Ile3096Thr)
c.8516T>C (p.Ile2839Thr)
c.5888T>C (p.Ile1963Thr)
c.4937T>C (p.Ile1646Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141776A>TCA391381900HERC2c.11771T>A (p.Ile3924Asn)
c.3482T>A (p.Ile1161Asn)
n.286T>A
c.11657T>A (p.Ile3886Asn)
c.11756T>A (p.Ile3919Asn)
c.11513T>A (p.Ile3838Asn)
c.11288T>A (p.Ile3763Asn)
c.9287T>A (p.Ile3096Asn)
c.8516T>A (p.Ile2839Asn)
c.5888T>A (p.Ile1963Asn)
c.4937T>A (p.Ile1646Asn)
15g.28141777T>ACA391381901HERC2c.11770A>T (p.Ile3924Phe)
c.3481A>T (p.Ile1161Phe)
n.285A>T
c.11656A>T (p.Ile3886Phe)
c.11755A>T (p.Ile3919Phe)
c.11512A>T (p.Ile3838Phe)
c.11287A>T (p.Ile3763Phe)
c.9286A>T (p.Ile3096Phe)
c.8515A>T (p.Ile2839Phe)
c.5887A>T (p.Ile1963Phe)
c.4936A>T (p.Ile1646Phe)
15g.28141777T>CCA391381902HERC2c.11770A>G (p.Ile3924Val)
c.3481A>G (p.Ile1161Val)
n.285A>G
c.11656A>G (p.Ile3886Val)
c.11755A>G (p.Ile3919Val)
c.11512A>G (p.Ile3838Val)
c.11287A>G (p.Ile3763Val)
c.9286A>G (p.Ile3096Val)
c.8515A>G (p.Ile2839Val)
c.5887A>G (p.Ile1963Val)
c.4936A>G (p.Ile1646Val)
 dbSNP gnomAD v4
15g.28141777T>GCA391381903HERC2c.11770A>C (p.Ile3924Leu)
c.3481A>C (p.Ile1161Leu)
n.285A>C
c.11656A>C (p.Ile3886Leu)
c.11755A>C (p.Ile3919Leu)
c.11512A>C (p.Ile3838Leu)
c.11287A>C (p.Ile3763Leu)
c.9286A>C (p.Ile3096Leu)
c.8515A>C (p.Ile2839Leu)
c.5887A>C (p.Ile1963Leu)
c.4936A>C (p.Ile1646Leu)
15g.28141777T=CA2166480094HERC2c.11770A= (p.Ile3924=)
c.3481A= (p.Ile1161=)
n.285A=
c.11656A= (p.Ile3886=)
c.11755A= (p.Ile3919=)
c.11512A= (p.Ile3838=)
c.11287A= (p.Ile3763=)
c.9286A= (p.Ile3096=)
c.8515A= (p.Ile2839=)
c.5887A= (p.Ile1963=)
c.4936A= (p.Ile1646=)
15g.28141778G>ACA489235037HERC2c.11769C>T (p.Asp3923=)
c.3480C>T (p.Asp1160=)
n.284C>T
c.11655C>T (p.Asp3885=)
c.11754C>T (p.Asp3918=)
c.11511C>T (p.Asp3837=)
c.11286C>T (p.Asp3762=)
c.9285C>T (p.Asp3095=)
c.8514C>T (p.Asp2838=)
c.5886C>T (p.Asp1962=)
c.4935C>T (p.Asp1645=)
 dbSNP gnomAD v4
15g.28141778G>CCA391381904HERC2c.11769C>G (p.Asp3923Glu)
c.3480C>G (p.Asp1160Glu)
n.284C>G
c.11655C>G (p.Asp3885Glu)
c.11754C>G (p.Asp3918Glu)
c.11511C>G (p.Asp3837Glu)
c.11286C>G (p.Asp3762Glu)
c.9285C>G (p.Asp3095Glu)
c.8514C>G (p.Asp2838Glu)
c.5886C>G (p.Asp1962Glu)
c.4935C>G (p.Asp1645Glu)
15g.28141778G=CA2166480095HERC2c.11769C= (p.Asp3923=)
c.3480C= (p.Asp1160=)
n.284C=
c.11655C= (p.Asp3885=)
c.11754C= (p.Asp3918=)
c.11511C= (p.Asp3837=)
c.11286C= (p.Asp3762=)
c.9285C= (p.Asp3095=)
c.8514C= (p.Asp2838=)
c.5886C= (p.Asp1962=)
c.4935C= (p.Asp1645=)
15g.28141778G>TCA391381905HERC2c.11769C>A (p.Asp3923Glu)
c.3480C>A (p.Asp1160Glu)
n.284C>A
c.11655C>A (p.Asp3885Glu)
c.11754C>A (p.Asp3918Glu)
c.11511C>A (p.Asp3837Glu)
c.11286C>A (p.Asp3762Glu)
c.9285C>A (p.Asp3095Glu)
c.8514C>A (p.Asp2838Glu)
c.5886C>A (p.Asp1962Glu)
c.4935C>A (p.Asp1645Glu)
15g.28141779T>ACA391381906HERC2c.11768A>T (p.Asp3923Val)
c.3479A>T (p.Asp1160Val)
n.283A>T
c.11654A>T (p.Asp3885Val)
c.11753A>T (p.Asp3918Val)
c.11510A>T (p.Asp3837Val)
c.11285A>T (p.Asp3762Val)
c.9284A>T (p.Asp3095Val)
c.8513A>T (p.Asp2838Val)
c.5885A>T (p.Asp1962Val)
c.4934A>T (p.Asp1645Val)
15g.28141779T>CCA391381907HERC2c.11768A>G (p.Asp3923Gly)
c.3479A>G (p.Asp1160Gly)
n.283A>G
c.11654A>G (p.Asp3885Gly)
c.11753A>G (p.Asp3918Gly)
c.11510A>G (p.Asp3837Gly)
c.11285A>G (p.Asp3762Gly)
c.9284A>G (p.Asp3095Gly)
c.8513A>G (p.Asp2838Gly)
c.5885A>G (p.Asp1962Gly)
c.4934A>G (p.Asp1645Gly)
15g.28141779T>GCA391381908HERC2c.11768A>C (p.Asp3923Ala)
c.3479A>C (p.Asp1160Ala)
n.283A>C
c.11654A>C (p.Asp3885Ala)
c.11753A>C (p.Asp3918Ala)
c.11510A>C (p.Asp3837Ala)
c.11285A>C (p.Asp3762Ala)
c.9284A>C (p.Asp3095Ala)
c.8513A>C (p.Asp2838Ala)
c.5885A>C (p.Asp1962Ala)
c.4934A>C (p.Asp1645Ala)
15g.28141780C>ACA391381909HERC2c.11767G>T (p.Asp3923Tyr)
c.3478G>T (p.Asp1160Tyr)
n.282G>T
c.11653G>T (p.Asp3885Tyr)
c.11752G>T (p.Asp3918Tyr)
c.11509G>T (p.Asp3837Tyr)
c.11284G>T (p.Asp3762Tyr)
c.9283G>T (p.Asp3095Tyr)
c.8512G>T (p.Asp2838Tyr)
c.5884G>T (p.Asp1962Tyr)
c.4933G>T (p.Asp1645Tyr)
 gnomAD v4
15g.28141780C>GCA391381910HERC2c.11767G>C (p.Asp3923His)
c.3478G>C (p.Asp1160His)
n.282G>C
c.11653G>C (p.Asp3885His)
c.11752G>C (p.Asp3918His)
c.11509G>C (p.Asp3837His)
c.11284G>C (p.Asp3762His)
c.9283G>C (p.Asp3095His)
c.8512G>C (p.Asp2838His)
c.5884G>C (p.Asp1962His)
c.4933G>C (p.Asp1645His)
15g.28141780C>TCA391381911HERC2c.11767G>A (p.Asp3923Asn)
c.3478G>A (p.Asp1160Asn)
n.282G>A
c.11653G>A (p.Asp3885Asn)
c.11752G>A (p.Asp3918Asn)
c.11509G>A (p.Asp3837Asn)
c.11284G>A (p.Asp3762Asn)
c.9283G>A (p.Asp3095Asn)
c.8512G>A (p.Asp2838Asn)
c.5884G>A (p.Asp1962Asn)
c.4933G>A (p.Asp1645Asn)
 gnomAD v4
15g.28141781A>CCA391381912HERC2c.11766T>G (p.His3922Gln)
c.3477T>G (p.His1159Gln)
n.281T>G
c.11652T>G (p.His3884Gln)
c.11751T>G (p.His3917Gln)
c.11508T>G (p.His3836Gln)
c.11283T>G (p.His3761Gln)
c.9282T>G (p.His3094Gln)
c.8511T>G (p.His2837Gln)
c.5883T>G (p.His1961Gln)
c.4932T>G (p.His1644Gln)
15g.28141781A>GCA489235038HERC2c.11766T>C (p.His3922=)
c.3477T>C (p.His1159=)
n.281T>C
c.11652T>C (p.His3884=)
c.11751T>C (p.His3917=)
c.11508T>C (p.His3836=)
c.11283T>C (p.His3761=)
c.9282T>C (p.His3094=)
c.8511T>C (p.His2837=)
c.5883T>C (p.His1961=)
c.4932T>C (p.His1644=)
 gnomAD v4
15g.28141781A>TCA391381913HERC2c.11766T>A (p.His3922Gln)
c.3477T>A (p.His1159Gln)
n.281T>A
c.11652T>A (p.His3884Gln)
c.11751T>A (p.His3917Gln)
c.11508T>A (p.His3836Gln)
c.11283T>A (p.His3761Gln)
c.9282T>A (p.His3094Gln)
c.8511T>A (p.His2837Gln)
c.5883T>A (p.His1961Gln)
c.4932T>A (p.His1644Gln)
15g.28141782T>ACA391381914HERC2c.11765A>T (p.His3922Leu)
c.3476A>T (p.His1159Leu)
n.280A>T
c.11651A>T (p.His3884Leu)
c.11750A>T (p.His3917Leu)
c.11507A>T (p.His3836Leu)
c.11282A>T (p.His3761Leu)
c.9281A>T (p.His3094Leu)
c.8510A>T (p.His2837Leu)
c.5882A>T (p.His1961Leu)
c.4931A>T (p.His1644Leu)
15g.28141782T>CCA391381915HERC2c.11765A>G (p.His3922Arg)
c.3476A>G (p.His1159Arg)
n.280A>G
c.11651A>G (p.His3884Arg)
c.11750A>G (p.His3917Arg)
c.11507A>G (p.His3836Arg)
c.11282A>G (p.His3761Arg)
c.9281A>G (p.His3094Arg)
c.8510A>G (p.His2837Arg)
c.5882A>G (p.His1961Arg)
c.4931A>G (p.His1644Arg)
 gnomAD v4 COSMIC COSMIC
15g.28141782T>GCA391381916HERC2c.11765A>C (p.His3922Pro)
c.3476A>C (p.His1159Pro)
n.280A>C
c.11651A>C (p.His3884Pro)
c.11750A>C (p.His3917Pro)
c.11507A>C (p.His3836Pro)
c.11282A>C (p.His3761Pro)
c.9281A>C (p.His3094Pro)
c.8510A>C (p.His2837Pro)
c.5882A>C (p.His1961Pro)
c.4931A>C (p.His1644Pro)
15g.28141783G>ACA391381917HERC2c.11764C>T (p.His3922Tyr)
c.3475C>T (p.His1159Tyr)
n.279C>T
c.11650C>T (p.His3884Tyr)
c.11749C>T (p.His3917Tyr)
c.11506C>T (p.His3836Tyr)
c.11281C>T (p.His3761Tyr)
c.9280C>T (p.His3094Tyr)
c.8509C>T (p.His2837Tyr)
c.5881C>T (p.His1961Tyr)
c.4930C>T (p.His1644Tyr)
15g.28141783G>CCA391381919HERC2c.11764C>G (p.His3922Asp)
c.3475C>G (p.His1159Asp)
n.279C>G
c.11650C>G (p.His3884Asp)
c.11749C>G (p.His3917Asp)
c.11506C>G (p.His3836Asp)
c.11281C>G (p.His3761Asp)
c.9280C>G (p.His3094Asp)
c.8509C>G (p.His2837Asp)
c.5881C>G (p.His1961Asp)
c.4930C>G (p.His1644Asp)
15g.28141783G>TCA391381918HERC2c.11764C>A (p.His3922Asn)
c.3475C>A (p.His1159Asn)
n.279C>A
c.11650C>A (p.His3884Asn)
c.11749C>A (p.His3917Asn)
c.11506C>A (p.His3836Asn)
c.11281C>A (p.His3761Asn)
c.9280C>A (p.His3094Asn)
c.8509C>A (p.His2837Asn)
c.5881C>A (p.His1961Asn)
c.4930C>A (p.His1644Asn)
 gnomAD v4
15g.28141784G>ACA489235039HERC2c.11763C>T (p.Ser3921=)
c.3474C>T (p.Ser1158=)
n.278C>T
c.11649C>T (p.Ser3883=)
c.11748C>T (p.Ser3916=)
c.11505C>T (p.Ser3835=)
c.11280C>T (p.Ser3760=)
c.9279C>T (p.Ser3093=)
c.8508C>T (p.Ser2836=)
c.5880C>T (p.Ser1960=)
c.4929C>T (p.Ser1643=)
15g.28141784G>CCA391381920HERC2c.11763C>G (p.Ser3921Arg)
c.3474C>G (p.Ser1158Arg)
n.278C>G
c.11649C>G (p.Ser3883Arg)
c.11748C>G (p.Ser3916Arg)
c.11505C>G (p.Ser3835Arg)
c.11280C>G (p.Ser3760Arg)
c.9279C>G (p.Ser3093Arg)
c.8508C>G (p.Ser2836Arg)
c.5880C>G (p.Ser1960Arg)
c.4929C>G (p.Ser1643Arg)
15g.28141784G>TCA391381921HERC2c.11763C>A (p.Ser3921Arg)
c.3474C>A (p.Ser1158Arg)
n.278C>A
c.11649C>A (p.Ser3883Arg)
c.11748C>A (p.Ser3916Arg)
c.11505C>A (p.Ser3835Arg)
c.11280C>A (p.Ser3760Arg)
c.9279C>A (p.Ser3093Arg)
c.8508C>A (p.Ser2836Arg)
c.5880C>A (p.Ser1960Arg)
c.4929C>A (p.Ser1643Arg)
15g.28141785C>ACA391381922HERC2c.11762G>T (p.Ser3921Ile)
c.3473G>T (p.Ser1158Ile)
n.277G>T
c.11648G>T (p.Ser3883Ile)
c.11747G>T (p.Ser3916Ile)
c.11504G>T (p.Ser3835Ile)
c.11279G>T (p.Ser3760Ile)
c.9278G>T (p.Ser3093Ile)
c.8507G>T (p.Ser2836Ile)
c.5879G>T (p.Ser1960Ile)
c.4928G>T (p.Ser1643Ile)
15g.28141785C=CA2166480096HERC2c.11762G= (p.Ser3921=)
c.3473G= (p.Ser1158=)
n.277G=
c.11648G= (p.Ser3883=)
c.11747G= (p.Ser3916=)
c.11504G= (p.Ser3835=)
c.11279G= (p.Ser3760=)
c.9278G= (p.Ser3093=)
c.8507G= (p.Ser2836=)
c.5879G= (p.Ser1960=)
c.4928G= (p.Ser1643=)
15g.28141785C>GCA391381923HERC2c.11762G>C (p.Ser3921Thr)
c.3473G>C (p.Ser1158Thr)
n.277G>C
c.11648G>C (p.Ser3883Thr)
c.11747G>C (p.Ser3916Thr)
c.11504G>C (p.Ser3835Thr)
c.11279G>C (p.Ser3760Thr)
c.9278G>C (p.Ser3093Thr)
c.8507G>C (p.Ser2836Thr)
c.5879G>C (p.Ser1960Thr)
c.4928G>C (p.Ser1643Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141785C>TCA7440473HERC2c.11762G>A (p.Ser3921Asn)
c.3473G>A (p.Ser1158Asn)
n.277G>A
c.11648G>A (p.Ser3883Asn)
c.11747G>A (p.Ser3916Asn)
c.11504G>A (p.Ser3835Asn)
c.11279G>A (p.Ser3760Asn)
c.9278G>A (p.Ser3093Asn)
c.8507G>A (p.Ser2836Asn)
c.5879G>A (p.Ser1960Asn)
c.4928G>A (p.Ser1643Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141786T>ACA391381924HERC2c.11761A>T (p.Ser3921Cys)
c.3472A>T (p.Ser1158Cys)
n.276A>T
c.11647A>T (p.Ser3883Cys)
c.11746A>T (p.Ser3916Cys)
c.11503A>T (p.Ser3835Cys)
c.11278A>T (p.Ser3760Cys)
c.9277A>T (p.Ser3093Cys)
c.8506A>T (p.Ser2836Cys)
c.5878A>T (p.Ser1960Cys)
c.4927A>T (p.Ser1643Cys)
15g.28141786T>CCA391381925HERC2c.11761A>G (p.Ser3921Gly)
c.3472A>G (p.Ser1158Gly)
n.276A>G
c.11647A>G (p.Ser3883Gly)
c.11746A>G (p.Ser3916Gly)
c.11503A>G (p.Ser3835Gly)
c.11278A>G (p.Ser3760Gly)
c.9277A>G (p.Ser3093Gly)
c.8506A>G (p.Ser2836Gly)
c.5878A>G (p.Ser1960Gly)
c.4927A>G (p.Ser1643Gly)
 dbSNP
15g.28141786T>GCA391381926HERC2c.11761A>C (p.Ser3921Arg)
c.3472A>C (p.Ser1158Arg)
n.276A>C
c.11647A>C (p.Ser3883Arg)
c.11746A>C (p.Ser3916Arg)
c.11503A>C (p.Ser3835Arg)
c.11278A>C (p.Ser3760Arg)
c.9277A>C (p.Ser3093Arg)
c.8506A>C (p.Ser2836Arg)
c.5878A>C (p.Ser1960Arg)
c.4927A>C (p.Ser1643Arg)
 gnomAD v4
15g.28141787C>ACA391381927HERC2c.11760G>T (p.Glu3920Asp)
c.3471G>T (p.Glu1157Asp)
n.275G>T
c.11646G>T (p.Glu3882Asp)
c.11745G>T (p.Glu3915Asp)
c.11502G>T (p.Glu3834Asp)
c.11277G>T (p.Glu3759Asp)
c.9276G>T (p.Glu3092Asp)
c.8505G>T (p.Glu2835Asp)
c.5877G>T (p.Glu1959Asp)
c.4926G>T (p.Glu1642Asp)
15g.28141787C=CA2166480097HERC2c.11760G= (p.Glu3920=)
c.3471G= (p.Glu1157=)
n.275G=
c.11646G= (p.Glu3882=)
c.11745G= (p.Glu3915=)
c.11502G= (p.Glu3834=)
c.11277G= (p.Glu3759=)
c.9276G= (p.Glu3092=)
c.8505G= (p.Glu2835=)
c.5877G= (p.Glu1959=)
c.4926G= (p.Glu1642=)
15g.28141787C>GCA391381928HERC2c.11760G>C (p.Glu3920Asp)
c.3471G>C (p.Glu1157Asp)
n.275G>C
c.11646G>C (p.Glu3882Asp)
c.11745G>C (p.Glu3915Asp)
c.11502G>C (p.Glu3834Asp)
c.11277G>C (p.Glu3759Asp)
c.9276G>C (p.Glu3092Asp)
c.8505G>C (p.Glu2835Asp)
c.5877G>C (p.Glu1959Asp)
c.4926G>C (p.Glu1642Asp)
 dbSNP gnomAD v3 gnomAD v4
15g.28141787C>TCA489235040HERC2c.11760G>A (p.Glu3920=)
c.3471G>A (p.Glu1157=)
n.275G>A
c.11646G>A (p.Glu3882=)
c.11745G>A (p.Glu3915=)
c.11502G>A (p.Glu3834=)
c.11277G>A (p.Glu3759=)
c.9276G>A (p.Glu3092=)
c.8505G>A (p.Glu2835=)
c.5877G>A (p.Glu1959=)
c.4926G>A (p.Glu1642=)
15g.28141788T>ACA391381929HERC2c.11759A>T (p.Glu3920Val)
c.3470A>T (p.Glu1157Val)
n.274A>T
c.11645A>T (p.Glu3882Val)
c.11744A>T (p.Glu3915Val)
c.11501A>T (p.Glu3834Val)
c.11276A>T (p.Glu3759Val)
c.9275A>T (p.Glu3092Val)
c.8504A>T (p.Glu2835Val)
c.5876A>T (p.Glu1959Val)
c.4925A>T (p.Glu1642Val)
15g.28141788T>CCA391381930HERC2c.11759A>G (p.Glu3920Gly)
c.3470A>G (p.Glu1157Gly)
n.274A>G
c.11645A>G (p.Glu3882Gly)
c.11744A>G (p.Glu3915Gly)
c.11501A>G (p.Glu3834Gly)
c.11276A>G (p.Glu3759Gly)
c.9275A>G (p.Glu3092Gly)
c.8504A>G (p.Glu2835Gly)
c.5876A>G (p.Glu1959Gly)
c.4925A>G (p.Glu1642Gly)
15g.28141788T>GCA391381931HERC2c.11759A>C (p.Glu3920Ala)
c.3470A>C (p.Glu1157Ala)
n.274A>C
c.11645A>C (p.Glu3882Ala)
c.11744A>C (p.Glu3915Ala)
c.11501A>C (p.Glu3834Ala)
c.11276A>C (p.Glu3759Ala)
c.9275A>C (p.Glu3092Ala)
c.8504A>C (p.Glu2835Ala)
c.5876A>C (p.Glu1959Ala)
c.4925A>C (p.Glu1642Ala)
15g.28141789C>ACA391381934HERC2c.11758G>T (p.Glu3920Ter)
c.3469G>T (p.Glu1157Ter)
n.273G>T
c.11644G>T (p.Glu3882Ter)
c.11743G>T (p.Glu3915Ter)
c.11500G>T (p.Glu3834Ter)
c.11275G>T (p.Glu3759Ter)
c.9274G>T (p.Glu3092Ter)
c.8503G>T (p.Glu2835Ter)
c.5875G>T (p.Glu1959Ter)
c.4924G>T (p.Glu1642Ter)
15g.28141789C>GCA391381933HERC2c.11758G>C (p.Glu3920Gln)
c.3469G>C (p.Glu1157Gln)
n.273G>C
c.11644G>C (p.Glu3882Gln)
c.11743G>C (p.Glu3915Gln)
c.11500G>C (p.Glu3834Gln)
c.11275G>C (p.Glu3759Gln)
c.9274G>C (p.Glu3092Gln)
c.8503G>C (p.Glu2835Gln)
c.5875G>C (p.Glu1959Gln)
c.4924G>C (p.Glu1642Gln)
15g.28141789C>TCA391381932HERC2c.11758G>A (p.Glu3920Lys)
c.3469G>A (p.Glu1157Lys)
n.273G>A
c.11644G>A (p.Glu3882Lys)
c.11743G>A (p.Glu3915Lys)
c.11500G>A (p.Glu3834Lys)
c.11275G>A (p.Glu3759Lys)
c.9274G>A (p.Glu3092Lys)
c.8503G>A (p.Glu2835Lys)
c.5875G>A (p.Glu1959Lys)
c.4924G>A (p.Glu1642Lys)
15g.28141792_28141800delCA2627386278HERC2c.11750_11758del (p.Val3917_His3919del)
c.3461_3469del (p.Val1154_His1156del)
n.265_273del
c.11636_11644del (p.Val3879_His3881del)
c.11735_11743del (p.Val3912_His3914del)
c.11492_11500del (p.Val3831_His3833del)
c.11267_11275del (p.Val3756_His3758del)
c.9266_9274del (p.Val3089_His3091del)
c.8495_8503del (p.Val2832_His2834del)
c.5867_5875del (p.Val1956_His1958del)
c.4916_4924del (p.Val1639_His1641del)
 gnomAD v4
15g.28141790A=CA2166480098HERC2c.11757T= (p.His3919=)
c.3468T= (p.His1156=)
n.272T=
c.11643T= (p.His3881=)
c.11742T= (p.His3914=)
c.11499T= (p.His3833=)
c.11274T= (p.His3758=)
c.9273T= (p.His3091=)
c.8502T= (p.His2834=)
c.5874T= (p.His1958=)
c.4923T= (p.His1641=)
15g.28141790A>CCA391381935HERC2c.11757T>G (p.His3919Gln)
c.3468T>G (p.His1156Gln)
n.272T>G
c.11643T>G (p.His3881Gln)
c.11742T>G (p.His3914Gln)
c.11499T>G (p.His3833Gln)
c.11274T>G (p.His3758Gln)
c.9273T>G (p.His3091Gln)
c.8502T>G (p.His2834Gln)
c.5874T>G (p.His1958Gln)
c.4923T>G (p.His1641Gln)
15g.28141790A>GCA489235041HERC2c.11757T>C (p.His3919=)
c.3468T>C (p.His1156=)
n.272T>C
c.11643T>C (p.His3881=)
c.11742T>C (p.His3914=)
c.11499T>C (p.His3833=)
c.11274T>C (p.His3758=)
c.9273T>C (p.His3091=)
c.8502T>C (p.His2834=)
c.5874T>C (p.His1958=)
c.4923T>C (p.His1641=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.28141790A>TCA391381936HERC2c.11757T>A (p.His3919Gln)
c.3468T>A (p.His1156Gln)
n.272T>A
c.11643T>A (p.His3881Gln)
c.11742T>A (p.His3914Gln)
c.11499T>A (p.His3833Gln)
c.11274T>A (p.His3758Gln)
c.9273T>A (p.His3091Gln)
c.8502T>A (p.His2834Gln)
c.5874T>A (p.His1958Gln)
c.4923T>A (p.His1641Gln)
15g.28141791T>ACA391381937HERC2c.11756A>T (p.His3919Leu)
c.3467A>T (p.His1156Leu)
n.271A>T
c.11642A>T (p.His3881Leu)
c.11741A>T (p.His3914Leu)
c.11498A>T (p.His3833Leu)
c.11273A>T (p.His3758Leu)
c.9272A>T (p.His3091Leu)
c.8501A>T (p.His2834Leu)
c.5873A>T (p.His1958Leu)
c.4922A>T (p.His1641Leu)
15g.28141791T>CCA391381938HERC2c.11756A>G (p.His3919Arg)
c.3467A>G (p.His1156Arg)
n.271A>G
c.11642A>G (p.His3881Arg)
c.11741A>G (p.His3914Arg)
c.11498A>G (p.His3833Arg)
c.11273A>G (p.His3758Arg)
c.9272A>G (p.His3091Arg)
c.8501A>G (p.His2834Arg)
c.5873A>G (p.His1958Arg)
c.4922A>G (p.His1641Arg)
 dbSNP gnomAD v3 gnomAD v4
15g.28141791T>GCA391381939HERC2c.11756A>C (p.His3919Pro)
c.3467A>C (p.His1156Pro)
n.271A>C
c.11642A>C (p.His3881Pro)
c.11741A>C (p.His3914Pro)
c.11498A>C (p.His3833Pro)
c.11273A>C (p.His3758Pro)
c.9272A>C (p.His3091Pro)
c.8501A>C (p.His2834Pro)
c.5873A>C (p.His1958Pro)
c.4922A>C (p.His1641Pro)
15g.28141791T=CA2166480099HERC2c.11756A= (p.His3919=)
c.3467A= (p.His1156=)
n.271A=
c.11642A= (p.His3881=)
c.11741A= (p.His3914=)
c.11498A= (p.His3833=)
c.11273A= (p.His3758=)
c.9272A= (p.His3091=)
c.8501A= (p.His2834=)
c.5873A= (p.His1958=)
c.4922A= (p.His1641=)
15g.28141792G>ACA391381940HERC2c.11755C>T (p.His3919Tyr)
c.3466C>T (p.His1156Tyr)
n.270C>T
c.11641C>T (p.His3881Tyr)
c.11740C>T (p.His3914Tyr)
c.11497C>T (p.His3833Tyr)
c.11272C>T (p.His3758Tyr)
c.9271C>T (p.His3091Tyr)
c.8500C>T (p.His2834Tyr)
c.5872C>T (p.His1958Tyr)
c.4921C>T (p.His1641Tyr)
 gnomAD v4
15g.28141792G>CCA391381941HERC2c.11755C>G (p.His3919Asp)
c.3466C>G (p.His1156Asp)
n.270C>G
c.11641C>G (p.His3881Asp)
c.11740C>G (p.His3914Asp)
c.11497C>G (p.His3833Asp)
c.11272C>G (p.His3758Asp)
c.9271C>G (p.His3091Asp)
c.8500C>G (p.His2834Asp)
c.5872C>G (p.His1958Asp)
c.4921C>G (p.His1641Asp)
15g.28141792G>TCA391381942HERC2c.11755C>A (p.His3919Asn)
c.3466C>A (p.His1156Asn)
n.270C>A
c.11641C>A (p.His3881Asn)
c.11740C>A (p.His3914Asn)
c.11497C>A (p.His3833Asn)
c.11272C>A (p.His3758Asn)
c.9271C>A (p.His3091Asn)
c.8500C>A (p.His2834Asn)
c.5872C>A (p.His1958Asn)
c.4921C>A (p.His1641Asn)
15g.28141793C>ACA489235045HERC2c.11754G>T (p.Leu3918=)
c.3465G>T (p.Leu1155=)
n.269G>T
c.11640G>T (p.Leu3880=)
c.11739G>T (p.Leu3913=)
c.11496G>T (p.Leu3832=)
c.11271G>T (p.Leu3757=)
c.9270G>T (p.Leu3090=)
c.8499G>T (p.Leu2833=)
c.5871G>T (p.Leu1957=)
c.4920G>T (p.Leu1640=)
15g.28141793C>GCA489235047HERC2c.11754G>C (p.Leu3918=)
c.3465G>C (p.Leu1155=)
n.269G>C
c.11640G>C (p.Leu3880=)
c.11739G>C (p.Leu3913=)
c.11496G>C (p.Leu3832=)
c.11271G>C (p.Leu3757=)
c.9270G>C (p.Leu3090=)
c.8499G>C (p.Leu2833=)
c.5871G>C (p.Leu1957=)
c.4920G>C (p.Leu1640=)
15g.28141793C>TCA489235046HERC2c.11754G>A (p.Leu3918=)
c.3465G>A (p.Leu1155=)
n.269G>A
c.11640G>A (p.Leu3880=)
c.11739G>A (p.Leu3913=)
c.11496G>A (p.Leu3832=)
c.11271G>A (p.Leu3757=)
c.9270G>A (p.Leu3090=)
c.8499G>A (p.Leu2833=)
c.5871G>A (p.Leu1957=)
c.4920G>A (p.Leu1640=)
15g.28141794A=CA2166480100HERC2c.11753T= (p.Leu3918=)
c.3464T= (p.Leu1155=)
n.268T=
c.11639T= (p.Leu3880=)
c.11738T= (p.Leu3913=)
c.11495T= (p.Leu3832=)
c.11270T= (p.Leu3757=)
c.9269T= (p.Leu3090=)
c.8498T= (p.Leu2833=)
c.5870T= (p.Leu1957=)
c.4919T= (p.Leu1640=)
15g.28141794A>CCA391381943HERC2c.11753T>G (p.Leu3918Arg)
c.3464T>G (p.Leu1155Arg)
n.268T>G
c.11639T>G (p.Leu3880Arg)
c.11738T>G (p.Leu3913Arg)
c.11495T>G (p.Leu3832Arg)
c.11270T>G (p.Leu3757Arg)
c.9269T>G (p.Leu3090Arg)
c.8498T>G (p.Leu2833Arg)
c.5870T>G (p.Leu1957Arg)
c.4919T>G (p.Leu1640Arg)
15g.28141794A>GCA391381944HERC2c.11753T>C (p.Leu3918Pro)
c.3464T>C (p.Leu1155Pro)
n.268T>C
c.11639T>C (p.Leu3880Pro)
c.11738T>C (p.Leu3913Pro)
c.11495T>C (p.Leu3832Pro)
c.11270T>C (p.Leu3757Pro)
c.9269T>C (p.Leu3090Pro)
c.8498T>C (p.Leu2833Pro)
c.5870T>C (p.Leu1957Pro)
c.4919T>C (p.Leu1640Pro)
 dbSNP gnomAD v4
15g.28141794A>TCA391381945HERC2c.11753T>A (p.Leu3918Gln)
c.3464T>A (p.Leu1155Gln)
n.268T>A
c.11639T>A (p.Leu3880Gln)
c.11738T>A (p.Leu3913Gln)
c.11495T>A (p.Leu3832Gln)
c.11270T>A (p.Leu3757Gln)
c.9269T>A (p.Leu3090Gln)
c.8498T>A (p.Leu2833Gln)
c.5870T>A (p.Leu1957Gln)
c.4919T>A (p.Leu1640Gln)
15g.28141795G>ACA489235048HERC2c.11752C>T (p.Leu3918=)
c.3463C>T (p.Leu1155=)
n.267C>T
c.11638C>T (p.Leu3880=)
c.11737C>T (p.Leu3913=)
c.11494C>T (p.Leu3832=)
c.11269C>T (p.Leu3757=)
c.9268C>T (p.Leu3090=)
c.8497C>T (p.Leu2833=)
c.5869C>T (p.Leu1957=)
c.4918C>T (p.Leu1640=)
15g.28141795G>CCA391381946HERC2c.11752C>G (p.Leu3918Val)
c.3463C>G (p.Leu1155Val)
n.267C>G
c.11638C>G (p.Leu3880Val)
c.11737C>G (p.Leu3913Val)
c.11494C>G (p.Leu3832Val)
c.11269C>G (p.Leu3757Val)
c.9268C>G (p.Leu3090Val)
c.8497C>G (p.Leu2833Val)
c.5869C>G (p.Leu1957Val)
c.4918C>G (p.Leu1640Val)
 dbSNP gnomAD v2 gnomAD v4
15g.28141795G=CA2166480101HERC2c.11752C= (p.Leu3918=)
c.3463C= (p.Leu1155=)
n.267C=
c.11638C= (p.Leu3880=)
c.11737C= (p.Leu3913=)
c.11494C= (p.Leu3832=)
c.11269C= (p.Leu3757=)
c.9268C= (p.Leu3090=)
c.8497C= (p.Leu2833=)
c.5869C= (p.Leu1957=)
c.4918C= (p.Leu1640=)
15g.28141795G>TCA7440474HERC2c.11752C>A (p.Leu3918Met)
c.3463C>A (p.Leu1155Met)
n.267C>A
c.11638C>A (p.Leu3880Met)
c.11737C>A (p.Leu3913Met)
c.11494C>A (p.Leu3832Met)
c.11269C>A (p.Leu3757Met)
c.9268C>A (p.Leu3090Met)
c.8497C>A (p.Leu2833Met)
c.5869C>A (p.Leu1957Met)
c.4918C>A (p.Leu1640Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141796A=CA2166480102HERC2c.11751T= (p.Val3917=)
c.3462T= (p.Val1154=)
n.266T=
c.11637T= (p.Val3879=)
c.11736T= (p.Val3912=)
c.11493T= (p.Val3831=)
c.11268T= (p.Val3756=)
c.9267T= (p.Val3089=)
c.8496T= (p.Val2832=)
c.5868T= (p.Val1956=)
c.4917T= (p.Val1639=)
15g.28141796A>CCA489235050HERC2c.11751T>G (p.Val3917=)
c.3462T>G (p.Val1154=)
n.266T>G
c.11637T>G (p.Val3879=)
c.11736T>G (p.Val3912=)
c.11493T>G (p.Val3831=)
c.11268T>G (p.Val3756=)
c.9267T>G (p.Val3089=)
c.8496T>G (p.Val2832=)
c.5868T>G (p.Val1956=)
c.4917T>G (p.Val1639=)
15g.28141796A>GCA489235052HERC2c.11751T>C (p.Val3917=)
c.3462T>C (p.Val1154=)
n.266T>C
c.11637T>C (p.Val3879=)
c.11736T>C (p.Val3912=)
c.11493T>C (p.Val3831=)
c.11268T>C (p.Val3756=)
c.9267T>C (p.Val3089=)
c.8496T>C (p.Val2832=)
c.5868T>C (p.Val1956=)
c.4917T>C (p.Val1639=)
 dbSNP
15g.28141796A>TCA489235054HERC2c.11751T>A (p.Val3917=)
c.3462T>A (p.Val1154=)
n.266T>A
c.11637T>A (p.Val3879=)
c.11736T>A (p.Val3912=)
c.11493T>A (p.Val3831=)
c.11268T>A (p.Val3756=)
c.9267T>A (p.Val3089=)
c.8496T>A (p.Val2832=)
c.5868T>A (p.Val1956=)
c.4917T>A (p.Val1639=)

Number of alleles fetched