Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51887097G>ACA138900120PKHD1c.7109+36C>T (n.7109+36C>T)
c.6467+36C>T (n.6467+36C>T)
c.6398+36C>T (n.6398+36C>T)
c.1184+36C>T (n.1184+36C>T)
c.7034+36C>T (n.7034+36C>T)
c.6845+36C>T (n.6845+36C>T)
c.5249+36C>T (n.5249+36C>T)
n.7385+36C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51887097G=CA1628595316PKHD1c.7109+36C= (n.7109+36C=)
c.6467+36C= (n.6467+36C=)
c.6398+36C= (n.6398+36C=)
c.1184+36C= (n.1184+36C=)
c.7034+36C= (n.7034+36C=)
c.6845+36C= (n.6845+36C=)
c.5249+36C= (n.5249+36C=)
n.7385+36C=
6g.51887099C>ACA1088999755PKHD1c.7109+34G>T (n.7109+34G>T)
c.6467+34G>T (n.6467+34G>T)
c.6398+34G>T (n.6398+34G>T)
c.1184+34G>T (n.1184+34G>T)
c.7034+34G>T (n.7034+34G>T)
c.6845+34G>T (n.6845+34G>T)
c.5249+34G>T (n.5249+34G>T)
n.7385+34G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51887099C=CA1628595318PKHD1c.7109+34G= (n.7109+34G=)
c.6467+34G= (n.6467+34G=)
c.6398+34G= (n.6398+34G=)
c.1184+34G= (n.1184+34G=)
c.7034+34G= (n.7034+34G=)
c.6845+34G= (n.6845+34G=)
c.5249+34G= (n.5249+34G=)
n.7385+34G=
6g.51887099C>TCA1628595317PKHD1c.7109+34G>A (n.7109+34G>A)
c.6467+34G>A (n.6467+34G>A)
c.6398+34G>A (n.6398+34G>A)
c.1184+34G>A (n.1184+34G>A)
c.7034+34G>A (n.7034+34G>A)
c.6845+34G>A (n.6845+34G>A)
c.5249+34G>A (n.5249+34G>A)
n.7385+34G>A
 dbSNP gnomAD v4
6g.51887100A>CCA2711834736PKHD1c.7109+33T>G (n.7109+33T>G)
c.6467+33T>G (n.6467+33T>G)
c.6398+33T>G (n.6398+33T>G)
c.1184+33T>G (n.1184+33T>G)
c.7034+33T>G (n.7034+33T>G)
c.6845+33T>G (n.6845+33T>G)
c.5249+33T>G (n.5249+33T>G)
n.7385+33T>G
 dbSNP
6g.51887101G>ACA567292723PKHD1c.7109+32C>T (n.7109+32C>T)
c.6467+32C>T (n.6467+32C>T)
c.6398+32C>T (n.6398+32C>T)
c.1184+32C>T (n.1184+32C>T)
c.7034+32C>T (n.7034+32C>T)
c.6845+32C>T (n.6845+32C>T)
c.5249+32C>T (n.5249+32C>T)
n.7385+32C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51887101G=CA1628595319PKHD1c.7109+32C= (n.7109+32C=)
c.6467+32C= (n.6467+32C=)
c.6398+32C= (n.6398+32C=)
c.1184+32C= (n.1184+32C=)
c.7034+32C= (n.7034+32C=)
c.6845+32C= (n.6845+32C=)
c.5249+32C= (n.5249+32C=)
n.7385+32C=
6g.51887101G>TCA2578645147PKHD1c.7109+32C>A (n.7109+32C>A)
c.6467+32C>A (n.6467+32C>A)
c.6398+32C>A (n.6398+32C>A)
c.1184+32C>A (n.1184+32C>A)
c.7034+32C>A (n.7034+32C>A)
c.6845+32C>A (n.6845+32C>A)
c.5249+32C>A (n.5249+32C>A)
n.7385+32C>A
 gnomAD v4
6g.51887102C>ACA2771052825PKHD1c.7109+31G>T (n.7109+31G>T)
c.6467+31G>T (n.6467+31G>T)
c.6398+31G>T (n.6398+31G>T)
c.1184+31G>T (n.1184+31G>T)
c.7034+31G>T (n.7034+31G>T)
c.6845+31G>T (n.6845+31G>T)
c.5249+31G>T (n.5249+31G>T)
n.7385+31G>T
6g.51887102C=CA1628595320PKHD1c.7109+31G= (n.7109+31G=)
c.6467+31G= (n.6467+31G=)
c.6398+31G= (n.6398+31G=)
c.1184+31G= (n.1184+31G=)
c.7034+31G= (n.7034+31G=)
c.6845+31G= (n.6845+31G=)
c.5249+31G= (n.5249+31G=)
n.7385+31G=
6g.51887102C>TCA3852046PKHD1c.7109+31G>A (n.7109+31G>A)
c.6467+31G>A (n.6467+31G>A)
c.6398+31G>A (n.6398+31G>A)
c.1184+31G>A (n.1184+31G>A)
c.7034+31G>A (n.7034+31G>A)
c.6845+31G>A (n.6845+31G>A)
c.5249+31G>A (n.5249+31G>A)
n.7385+31G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887104A>GCA2679080596PKHD1c.7109+29T>C (n.7109+29T>C)
c.6467+29T>C (n.6467+29T>C)
c.6398+29T>C (n.6398+29T>C)
c.1184+29T>C (n.1184+29T>C)
c.7034+29T>C (n.7034+29T>C)
c.6845+29T>C (n.6845+29T>C)
c.5249+29T>C (n.5249+29T>C)
n.7385+29T>C
 gnomAD v4
6g.51887107A>CCA2679080597PKHD1c.7109+26T>G (n.7109+26T>G)
c.6467+26T>G (n.6467+26T>G)
c.6398+26T>G (n.6398+26T>G)
c.1184+26T>G (n.1184+26T>G)
c.7034+26T>G (n.7034+26T>G)
c.6845+26T>G (n.6845+26T>G)
c.5249+26T>G (n.5249+26T>G)
n.7385+26T>G
 gnomAD v4
6g.51887108C=CA1628595321PKHD1c.7109+25G= (n.7109+25G=)
c.6467+25G= (n.6467+25G=)
c.6398+25G= (n.6398+25G=)
c.1184+25G= (n.1184+25G=)
c.7034+25G= (n.7034+25G=)
c.6845+25G= (n.6845+25G=)
c.5249+25G= (n.5249+25G=)
n.7385+25G=
6g.51887108C>TCA3852048PKHD1c.7109+25G>A (n.7109+25G>A)
c.6467+25G>A (n.6467+25G>A)
c.6398+25G>A (n.6398+25G>A)
c.1184+25G>A (n.1184+25G>A)
c.7034+25G>A (n.7034+25G>A)
c.6845+25G>A (n.6845+25G>A)
c.5249+25G>A (n.5249+25G>A)
n.7385+25G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887108_51887110delinsCATCA1628595322PKHD1c.7109+23_7109+25delinsATG (n.7109+23_7109+25delinsATG)
c.6467+23_6467+25delinsATG (n.6467+23_6467+25delinsATG)
c.6398+23_6398+25delinsATG (n.6398+23_6398+25delinsATG)
c.1184+23_1184+25delinsATG (n.1184+23_1184+25delinsATG)
c.7034+23_7034+25delinsATG (n.7034+23_7034+25delinsATG)
c.6845+23_6845+25delinsATG (n.6845+23_6845+25delinsATG)
c.5249+23_5249+25delinsATG (n.5249+23_5249+25delinsATG)
n.7385+23_7385+25delinsATG
6g.51887109A=CA1628595324PKHD1c.7109+24T= (n.7109+24T=)
c.6467+24T= (n.6467+24T=)
c.6398+24T= (n.6398+24T=)
c.1184+24T= (n.1184+24T=)
c.7034+24T= (n.7034+24T=)
c.6845+24T= (n.6845+24T=)
c.5249+24T= (n.5249+24T=)
n.7385+24T=
6g.51887109A>GCA1628595323PKHD1c.7109+24T>C (n.7109+24T>C)
c.6467+24T>C (n.6467+24T>C)
c.6398+24T>C (n.6398+24T>C)
c.1184+24T>C (n.1184+24T>C)
c.7034+24T>C (n.7034+24T>C)
c.6845+24T>C (n.6845+24T>C)
c.5249+24T>C (n.5249+24T>C)
n.7385+24T>C
 dbSNP gnomAD v4
6g.51887110_51887111delCA3852047PKHD1c.7109+23_7109+24del (n.7109+23_7109+24del)
c.6467+23_6467+24del (n.6467+23_6467+24del)
c.6398+23_6398+24del (n.6398+23_6398+24del)
c.1184+23_1184+24del (n.1184+23_1184+24del)
c.7034+23_7034+24del (n.7034+23_7034+24del)
c.6845+23_6845+24del (n.6845+23_6845+24del)
c.5249+23_5249+24del (n.5249+23_5249+24del)
n.7385+23_7385+24del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887110T>CCA138900125PKHD1c.7109+23A>G (n.7109+23A>G)
c.6467+23A>G (n.6467+23A>G)
c.6398+23A>G (n.6398+23A>G)
c.1184+23A>G (n.1184+23A>G)
c.7034+23A>G (n.7034+23A>G)
c.6845+23A>G (n.6845+23A>G)
c.5249+23A>G (n.5249+23A>G)
n.7385+23A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51887110T=CA1628595325PKHD1c.7109+23A= (n.7109+23A=)
c.6467+23A= (n.6467+23A=)
c.6398+23A= (n.6398+23A=)
c.1184+23A= (n.1184+23A=)
c.7034+23A= (n.7034+23A=)
c.6845+23A= (n.6845+23A=)
c.5249+23A= (n.5249+23A=)
n.7385+23A=
6g.51887111A>GCA2679080598PKHD1c.7109+22T>C (n.7109+22T>C)
c.6467+22T>C (n.6467+22T>C)
c.6398+22T>C (n.6398+22T>C)
c.1184+22T>C (n.1184+22T>C)
c.7034+22T>C (n.7034+22T>C)
c.6845+22T>C (n.6845+22T>C)
c.5249+22T>C (n.5249+22T>C)
n.7385+22T>C
 gnomAD v4
6g.51887111A>TCA2578645148PKHD1c.7109+22T>A (n.7109+22T>A)
c.6467+22T>A (n.6467+22T>A)
c.6398+22T>A (n.6398+22T>A)
c.1184+22T>A (n.1184+22T>A)
c.7034+22T>A (n.7034+22T>A)
c.6845+22T>A (n.6845+22T>A)
c.5249+22T>A (n.5249+22T>A)
n.7385+22T>A
6g.51887112G>ACA3852049PKHD1c.7109+21C>T (n.7109+21C>T)
c.6467+21C>T (n.6467+21C>T)
c.6398+21C>T (n.6398+21C>T)
c.1184+21C>T (n.1184+21C>T)
c.7034+21C>T (n.7034+21C>T)
c.6845+21C>T (n.6845+21C>T)
c.5249+21C>T (n.5249+21C>T)
n.7385+21C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887112G>CCA3852051PKHD1c.7109+21C>G (n.7109+21C>G)
c.6467+21C>G (n.6467+21C>G)
c.6398+21C>G (n.6398+21C>G)
c.1184+21C>G (n.1184+21C>G)
c.7034+21C>G (n.7034+21C>G)
c.6845+21C>G (n.6845+21C>G)
c.5249+21C>G (n.5249+21C>G)
n.7385+21C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887112G=CA1628595326PKHD1c.7109+21C= (n.7109+21C=)
c.6467+21C= (n.6467+21C=)
c.6398+21C= (n.6398+21C=)
c.1184+21C= (n.1184+21C=)
c.7034+21C= (n.7034+21C=)
c.6845+21C= (n.6845+21C=)
c.5249+21C= (n.5249+21C=)
n.7385+21C=
6g.51887112G>TCA3852050PKHD1c.7109+21C>A (n.7109+21C>A)
c.6467+21C>A (n.6467+21C>A)
c.6398+21C>A (n.6398+21C>A)
c.1184+21C>A (n.1184+21C>A)
c.7034+21C>A (n.7034+21C>A)
c.6845+21C>A (n.6845+21C>A)
c.5249+21C>A (n.5249+21C>A)
n.7385+21C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887113A>GCA2679080599PKHD1c.7109+20T>C (n.7109+20T>C)
c.6467+20T>C (n.6467+20T>C)
c.6398+20T>C (n.6398+20T>C)
c.1184+20T>C (n.1184+20T>C)
c.7034+20T>C (n.7034+20T>C)
c.6845+20T>C (n.6845+20T>C)
c.5249+20T>C (n.5249+20T>C)
n.7385+20T>C
 gnomAD v4
6g.51887114T>ACA3852053PKHD1c.7109+19A>T (n.7109+19A>T)
c.6467+19A>T (n.6467+19A>T)
c.6398+19A>T (n.6398+19A>T)
c.1184+19A>T (n.1184+19A>T)
c.7034+19A>T (n.7034+19A>T)
c.6845+19A>T (n.6845+19A>T)
c.5249+19A>T (n.5249+19A>T)
n.7385+19A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887114T>CCA3852052PKHD1c.7109+19A>G (n.7109+19A>G)
c.6467+19A>G (n.6467+19A>G)
c.6398+19A>G (n.6398+19A>G)
c.1184+19A>G (n.1184+19A>G)
c.7034+19A>G (n.7034+19A>G)
c.6845+19A>G (n.6845+19A>G)
c.5249+19A>G (n.5249+19A>G)
n.7385+19A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887114T>GCA567292724PKHD1c.7109+19A>C (n.7109+19A>C)
c.6467+19A>C (n.6467+19A>C)
c.6398+19A>C (n.6398+19A>C)
c.1184+19A>C (n.1184+19A>C)
c.7034+19A>C (n.7034+19A>C)
c.6845+19A>C (n.6845+19A>C)
c.5249+19A>C (n.5249+19A>C)
n.7385+19A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51887114T=CA1628595327PKHD1c.7109+19A= (n.7109+19A=)
c.6467+19A= (n.6467+19A=)
c.6398+19A= (n.6398+19A=)
c.1184+19A= (n.1184+19A=)
c.7034+19A= (n.7034+19A=)
c.6845+19A= (n.6845+19A=)
c.5249+19A= (n.5249+19A=)
n.7385+19A=
6g.51887115G>ACA2679080600PKHD1c.7109+18C>T (n.7109+18C>T)
c.6467+18C>T (n.6467+18C>T)
c.6398+18C>T (n.6398+18C>T)
c.1184+18C>T (n.1184+18C>T)
c.7034+18C>T (n.7034+18C>T)
c.6845+18C>T (n.6845+18C>T)
c.5249+18C>T (n.5249+18C>T)
n.7385+18C>T
 gnomAD v4
6g.51887115G>TCA650329136PKHD1c.7109+18C>A (n.7109+18C>A)
c.6467+18C>A (n.6467+18C>A)
c.6398+18C>A (n.6398+18C>A)
c.1184+18C>A (n.1184+18C>A)
c.7034+18C>A (n.7034+18C>A)
c.6845+18C>A (n.6845+18C>A)
c.5249+18C>A (n.5249+18C>A)
n.7385+18C>A
 gnomAD v4 COSMIC
6g.51887116A=CA1628595328PKHD1c.7109+17T= (n.7109+17T=)
c.6467+17T= (n.6467+17T=)
c.6398+17T= (n.6398+17T=)
c.1184+17T= (n.1184+17T=)
c.7034+17T= (n.7034+17T=)
c.6845+17T= (n.6845+17T=)
c.5249+17T= (n.5249+17T=)
n.7385+17T=
6g.51887116A>CCA2679080601PKHD1c.7109+17T>G (n.7109+17T>G)
c.6467+17T>G (n.6467+17T>G)
c.6398+17T>G (n.6398+17T>G)
c.1184+17T>G (n.1184+17T>G)
c.7034+17T>G (n.7034+17T>G)
c.6845+17T>G (n.6845+17T>G)
c.5249+17T>G (n.5249+17T>G)
n.7385+17T>G
 gnomAD v4
6g.51887116A>GCA825693558PKHD1c.7109+17T>C (n.7109+17T>C)
c.6467+17T>C (n.6467+17T>C)
c.6398+17T>C (n.6398+17T>C)
c.1184+17T>C (n.1184+17T>C)
c.7034+17T>C (n.7034+17T>C)
c.6845+17T>C (n.6845+17T>C)
c.5249+17T>C (n.5249+17T>C)
n.7385+17T>C
 dbSNP gnomAD v4
6g.51887116A>TCA2539537348PKHD1c.7109+17T>A (n.7109+17T>A)
c.6467+17T>A (n.6467+17T>A)
c.6398+17T>A (n.6398+17T>A)
c.1184+17T>A (n.1184+17T>A)
c.7034+17T>A (n.7034+17T>A)
c.6845+17T>A (n.6845+17T>A)
c.5249+17T>A (n.5249+17T>A)
n.7385+17T>A
6g.51887117A=CA1628595329PKHD1c.7109+16T= (n.7109+16T=)
c.6467+16T= (n.6467+16T=)
c.6398+16T= (n.6398+16T=)
c.1184+16T= (n.1184+16T=)
c.7034+16T= (n.7034+16T=)
c.6845+16T= (n.6845+16T=)
c.5249+16T= (n.5249+16T=)
n.7385+16T=
6g.51887117A>GCA567292725PKHD1c.7109+16T>C (n.7109+16T>C)
c.6467+16T>C (n.6467+16T>C)
c.6398+16T>C (n.6398+16T>C)
c.1184+16T>C (n.1184+16T>C)
c.7034+16T>C (n.7034+16T>C)
c.6845+16T>C (n.6845+16T>C)
c.5249+16T>C (n.5249+16T>C)
n.7385+16T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51887117A>TCA2679080602PKHD1c.7109+16T>A (n.7109+16T>A)
c.6467+16T>A (n.6467+16T>A)
c.6398+16T>A (n.6398+16T>A)
c.1184+16T>A (n.1184+16T>A)
c.7034+16T>A (n.7034+16T>A)
c.6845+16T>A (n.6845+16T>A)
c.5249+16T>A (n.5249+16T>A)
n.7385+16T>A
 gnomAD v4
6g.51887118T>GCA2739273100PKHD1c.7109+15A>C (n.7109+15A>C)
c.6467+15A>C (n.6467+15A>C)
c.6398+15A>C (n.6398+15A>C)
c.1184+15A>C (n.1184+15A>C)
c.7034+15A>C (n.7034+15A>C)
c.6845+15A>C (n.6845+15A>C)
c.5249+15A>C (n.5249+15A>C)
n.7385+15A>C
 ClinVar
6g.51887119T>CCA1628595331PKHD1c.7109+14A>G (n.7109+14A>G)
c.6467+14A>G (n.6467+14A>G)
c.6398+14A>G (n.6398+14A>G)
c.1184+14A>G (n.1184+14A>G)
c.7034+14A>G (n.7034+14A>G)
c.6845+14A>G (n.6845+14A>G)
c.5249+14A>G (n.5249+14A>G)
n.7385+14A>G
 dbSNP
6g.51887119T=CA1628595330PKHD1c.7109+14A= (n.7109+14A=)
c.6467+14A= (n.6467+14A=)
c.6398+14A= (n.6398+14A=)
c.1184+14A= (n.1184+14A=)
c.7034+14A= (n.7034+14A=)
c.6845+14A= (n.6845+14A=)
c.5249+14A= (n.5249+14A=)
n.7385+14A=
6g.51887122C>ACA2771052826PKHD1c.7109+11G>T (n.7109+11G>T)
c.6467+11G>T (n.6467+11G>T)
c.6398+11G>T (n.6398+11G>T)
c.1184+11G>T (n.1184+11G>T)
c.7034+11G>T (n.7034+11G>T)
c.6845+11G>T (n.6845+11G>T)
c.5249+11G>T (n.5249+11G>T)
n.7385+11G>T
6g.51887122C>TCA650329137PKHD1c.7109+11G>A (n.7109+11G>A)
c.6467+11G>A (n.6467+11G>A)
c.6398+11G>A (n.6398+11G>A)
c.1184+11G>A (n.1184+11G>A)
c.7034+11G>A (n.7034+11G>A)
c.6845+11G>A (n.6845+11G>A)
c.5249+11G>A (n.5249+11G>A)
n.7385+11G>A
 gnomAD v4 COSMIC
6g.51887123C>ACA3852054PKHD1c.7109+10G>T (n.7109+10G>T)
c.6467+10G>T (n.6467+10G>T)
c.6398+10G>T (n.6398+10G>T)
c.1184+10G>T (n.1184+10G>T)
c.7034+10G>T (n.7034+10G>T)
c.6845+10G>T (n.6845+10G>T)
c.5249+10G>T (n.5249+10G>T)
n.7385+10G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51887123C=CA1628595332PKHD1c.7109+10G= (n.7109+10G=)
c.6467+10G= (n.6467+10G=)
c.6398+10G= (n.6398+10G=)
c.1184+10G= (n.1184+10G=)
c.7034+10G= (n.7034+10G=)
c.6845+10G= (n.6845+10G=)
c.5249+10G= (n.5249+10G=)
n.7385+10G=
6g.51887124C>ACA645566606PKHD1c.7109+9G>T (n.7109+9G>T)
c.6467+9G>T (n.6467+9G>T)
c.6398+9G>T (n.6398+9G>T)
c.1184+9G>T (n.1184+9G>T)
c.7034+9G>T (n.7034+9G>T)
c.6845+9G>T (n.6845+9G>T)
c.5249+9G>T (n.5249+9G>T)
n.7385+9G>T
 COSMIC COSMIC
6g.51887126A>GCA2499218355PKHD1c.7109+7T>C (n.7109+7T>C)
c.6467+7T>C (n.6467+7T>C)
c.6398+7T>C (n.6398+7T>C)
c.1184+7T>C (n.1184+7T>C)
c.7034+7T>C (n.7034+7T>C)
c.6845+7T>C (n.6845+7T>C)
c.5249+7T>C (n.5249+7T>C)
n.7385+7T>C
 ClinVar dbSNP
6g.51887128G>ACA1628595334PKHD1c.7109+5C>T (n.7109+5C>T)
c.6467+5C>T (n.6467+5C>T)
c.6398+5C>T (n.6398+5C>T)
c.1184+5C>T (n.1184+5C>T)
c.7034+5C>T (n.7034+5C>T)
c.6845+5C>T (n.6845+5C>T)
c.5249+5C>T (n.5249+5C>T)
n.7385+5C>T
 dbSNP
6g.51887128G=CA1628595333PKHD1c.7109+5C= (n.7109+5C=)
c.6467+5C= (n.6467+5C=)
c.6398+5C= (n.6398+5C=)
c.1184+5C= (n.1184+5C=)
c.7034+5C= (n.7034+5C=)
c.6845+5C= (n.6845+5C=)
c.5249+5C= (n.5249+5C=)
n.7385+5C=
6g.51887128G>TCA2679080603PKHD1c.7109+5C>A (n.7109+5C>A)
c.6467+5C>A (n.6467+5C>A)
c.6398+5C>A (n.6398+5C>A)
c.1184+5C>A (n.1184+5C>A)
c.7034+5C>A (n.7034+5C>A)
c.6845+5C>A (n.6845+5C>A)
c.5249+5C>A (n.5249+5C>A)
n.7385+5C>A
 gnomAD v4
6g.51887129T>ACA2578645149PKHD1c.7109+4A>T (n.7109+4A>T)
c.6467+4A>T (n.6467+4A>T)
c.6398+4A>T (n.6398+4A>T)
c.1184+4A>T (n.1184+4A>T)
c.7034+4A>T (n.7034+4A>T)
c.6845+4A>T (n.6845+4A>T)
c.5249+4A>T (n.5249+4A>T)
n.7385+4A>T
6g.51887130T>ACA645566607PKHD1c.7109+3A>T (n.7109+3A>T)
c.6467+3A>T (n.6467+3A>T)
c.6398+3A>T (n.6398+3A>T)
c.1184+3A>T (n.1184+3A>T)
c.7034+3A>T (n.7034+3A>T)
c.6845+3A>T (n.6845+3A>T)
c.5249+3A>T (n.5249+3A>T)
n.7385+3A>T
 COSMIC COSMIC
6g.51887130T>GCA915944283PKHD1c.7109+3A>C (n.7109+3A>C)
c.6467+3A>C (n.6467+3A>C)
c.6398+3A>C (n.6398+3A>C)
c.1184+3A>C (n.1184+3A>C)
c.7034+3A>C (n.7034+3A>C)
c.6845+3A>C (n.6845+3A>C)
c.5249+3A>C (n.5249+3A>C)
n.7385+3A>C
 ClinVar dbSNP gnomAD v4
6g.51887130T=CA1628595335PKHD1c.7109+3A= (n.7109+3A=)
c.6467+3A= (n.6467+3A=)
c.6398+3A= (n.6398+3A=)
c.1184+3A= (n.1184+3A=)
c.7034+3A= (n.7034+3A=)
c.6845+3A= (n.6845+3A=)
c.5249+3A= (n.5249+3A=)
n.7385+3A=
6g.51887131A>CCA364424114PKHD1c.7109+2T>G (n.7109+2T>G)
c.6467+2T>G (n.6467+2T>G)
c.6398+2T>G (n.6398+2T>G)
c.1184+2T>G (n.1184+2T>G)
c.7034+2T>G (n.7034+2T>G)
c.6845+2T>G (n.6845+2T>G)
c.5249+2T>G (n.5249+2T>G)
n.7385+2T>G
6g.51887131A>GCA364424113PKHD1c.7109+2T>C (n.7109+2T>C)
c.6467+2T>C (n.6467+2T>C)
c.6398+2T>C (n.6398+2T>C)
c.1184+2T>C (n.1184+2T>C)
c.7034+2T>C (n.7034+2T>C)
c.6845+2T>C (n.6845+2T>C)
c.5249+2T>C (n.5249+2T>C)
n.7385+2T>C
6g.51887131A>TCA364424112PKHD1c.7109+2T>A (n.7109+2T>A)
c.6467+2T>A (n.6467+2T>A)
c.6398+2T>A (n.6398+2T>A)
c.1184+2T>A (n.1184+2T>A)
c.7034+2T>A (n.7034+2T>A)
c.6845+2T>A (n.6845+2T>A)
c.5249+2T>A (n.5249+2T>A)
n.7385+2T>A
 ClinVar
6g.51887132C>ACA364424116PKHD1c.7109+1G>T (n.7109+1G>T)
c.6467+1G>T (n.6467+1G>T)
c.6398+1G>T (n.6398+1G>T)
c.1184+1G>T (n.1184+1G>T)
c.7034+1G>T (n.7034+1G>T)
c.6845+1G>T (n.6845+1G>T)
c.5249+1G>T (n.5249+1G>T)
n.7385+1G>T
6g.51887132C>GCA364424118PKHD1c.7109+1G>C (n.7109+1G>C)
c.6467+1G>C (n.6467+1G>C)
c.6398+1G>C (n.6398+1G>C)
c.1184+1G>C (n.1184+1G>C)
c.7034+1G>C (n.7034+1G>C)
c.6845+1G>C (n.6845+1G>C)
c.5249+1G>C (n.5249+1G>C)
n.7385+1G>C
6g.51887132C>TCA364424120PKHD1c.7109+1G>A (n.7109+1G>A)
c.6467+1G>A (n.6467+1G>A)
c.6398+1G>A (n.6398+1G>A)
c.1184+1G>A (n.1184+1G>A)
c.7034+1G>A (n.7034+1G>A)
c.6845+1G>A (n.6845+1G>A)
c.5249+1G>A (n.5249+1G>A)
n.7385+1G>A
6g.51887133C>ACA364424122PKHD1c.7109G>T (p.Arg2370Met)
c.6467G>T (p.Arg2156Met)
c.6398G>T (p.Arg2133Met)
c.1184G>T (p.Arg395Met)
c.7034G>T (p.Arg2345Met)
c.6845G>T (p.Arg2282Met)
c.5249G>T (p.Arg1750Met)
n.7385G>T
6g.51887133C>GCA364424124PKHD1c.7109G>C (p.Arg2370Thr)
c.6467G>C (p.Arg2156Thr)
c.6398G>C (p.Arg2133Thr)
c.1184G>C (p.Arg395Thr)
c.7034G>C (p.Arg2345Thr)
c.6845G>C (p.Arg2282Thr)
c.5249G>C (p.Arg1750Thr)
n.7385G>C
6g.51887133C>TCA364424126PKHD1c.7109G>A (p.Arg2370Lys)
c.6467G>A (p.Arg2156Lys)
c.6398G>A (p.Arg2133Lys)
c.1184G>A (p.Arg395Lys)
c.7034G>A (p.Arg2345Lys)
c.6845G>A (p.Arg2282Lys)
c.5249G>A (p.Arg1750Lys)
n.7385G>A
6g.51887133_51887136delCA913110721PKHD1c.7106_7109del (p.Thr2369SerfsTer?)
c.6464_6467del (p.Thr2155SerfsTer?)
c.6395_6398del (p.Thr2132SerfsTer?)
c.1181_1184del (p.Thr394SerfsTer?)
c.7031_7034del (p.Thr2344SerfsTer?)
c.6842_6845del (p.Thr2281SerfsTer?)
c.5246_5249del (p.Thr1749SerfsTer?)
n.7382_7385del
6g.51887133_51887136delinsCTGGCA1628595336PKHD1c.7106_7109delinsCCAG (p.Thr2369=)
c.6464_6467delinsCCAG (p.Thr2155=)
c.6395_6398delinsCCAG (p.Thr2132=)
c.1181_1184delinsCCAG (p.Thr394=)
c.7031_7034delinsCCAG (p.Thr2344=)
c.6842_6845delinsCCAG (p.Thr2281=)
c.5246_5249delinsCCAG (p.Thr1749=)
n.7382_7385delinsCCAG
6g.51887134delCA2695198842PKHD1c.7108del (p.Arg2370GlyfsTer?)
c.6466del (p.Arg2156GlyfsTer?)
c.6397del (p.Arg2133GlyfsTer?)
c.1183del (p.Arg395GlyfsTer?)
c.7033del (p.Arg2345GlyfsTer?)
c.6844del (p.Arg2282GlyfsTer?)
c.5248del (p.Arg1750GlyfsTer?)
n.7384del
 ClinVar
6g.51887134T>ACA364424128PKHD1c.7108A>T (p.Arg2370Trp)
c.6466A>T (p.Arg2156Trp)
c.6397A>T (p.Arg2133Trp)
c.1183A>T (p.Arg395Trp)
c.7033A>T (p.Arg2345Trp)
c.6844A>T (p.Arg2282Trp)
c.5248A>T (p.Arg1750Trp)
n.7384A>T
6g.51887134T>CCA364424131PKHD1c.7108A>G (p.Arg2370Gly)
c.6466A>G (p.Arg2156Gly)
c.6397A>G (p.Arg2133Gly)
c.1183A>G (p.Arg395Gly)
c.7033A>G (p.Arg2345Gly)
c.6844A>G (p.Arg2282Gly)
c.5248A>G (p.Arg1750Gly)
n.7384A>G
 gnomAD v4
6g.51887134T>GCA450414370PKHD1c.7108A>C (p.Arg2370=)
c.6466A>C (p.Arg2156=)
c.6397A>C (p.Arg2133=)
c.1183A>C (p.Arg395=)
c.7033A>C (p.Arg2345=)
c.6844A>C (p.Arg2282=)
c.5248A>C (p.Arg1750=)
n.7384A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51887134T=CA1628595337PKHD1c.7108A= (p.Arg2370=)
c.6466A= (p.Arg2156=)
c.6397A= (p.Arg2133=)
c.1183A= (p.Arg395=)
c.7033A= (p.Arg2345=)
c.6844A= (p.Arg2282=)
c.5248A= (p.Arg1750=)
n.7384A=
6g.51887135_51887137delCA658822580PKHD1c.7106_7108del (p.Thr2369del)
c.6464_6466del (p.Thr2155del)
c.6395_6397del (p.Thr2132del)
c.1181_1183del (p.Thr394del)
c.7031_7033del (p.Thr2344del)
c.6842_6844del (p.Thr2281del)
c.5246_5248del (p.Thr1749del)
n.7382_7384del
 ClinVar dbSNP
6g.51887135G>ACA3852055PKHD1c.7107C>T (p.Thr2369=)
c.6465C>T (p.Thr2155=)
c.6396C>T (p.Thr2132=)
c.1182C>T (p.Thr394=)
c.7032C>T (p.Thr2344=)
c.6843C>T (p.Thr2281=)
c.5247C>T (p.Thr1749=)
n.7383C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887135G>CCA450414371PKHD1c.7107C>G (p.Thr2369=)
c.6465C>G (p.Thr2155=)
c.6396C>G (p.Thr2132=)
c.1182C>G (p.Thr394=)
c.7032C>G (p.Thr2344=)
c.6843C>G (p.Thr2281=)
c.5247C>G (p.Thr1749=)
n.7383C>G
6g.51887135G=CA1628595338PKHD1c.7107C= (p.Thr2369=)
c.6465C= (p.Thr2155=)
c.6396C= (p.Thr2132=)
c.1182C= (p.Thr394=)
c.7032C= (p.Thr2344=)
c.6843C= (p.Thr2281=)
c.5247C= (p.Thr1749=)
n.7383C=
6g.51887135G>TCA450414372PKHD1c.7107C>A (p.Thr2369=)
c.6465C>A (p.Thr2155=)
c.6396C>A (p.Thr2132=)
c.1182C>A (p.Thr394=)
c.7032C>A (p.Thr2344=)
c.6843C>A (p.Thr2281=)
c.5247C>A (p.Thr1749=)
n.7383C>A
 gnomAD v4 COSMIC COSMIC
6g.51887136G>ACA364424135PKHD1c.7106C>T (p.Thr2369Ile)
c.6464C>T (p.Thr2155Ile)
c.6395C>T (p.Thr2132Ile)
c.1181C>T (p.Thr394Ile)
c.7031C>T (p.Thr2344Ile)
c.6842C>T (p.Thr2281Ile)
c.5246C>T (p.Thr1749Ile)
n.7382C>T
6g.51887136G>CCA364424137PKHD1c.7106C>G (p.Thr2369Ser)
c.6464C>G (p.Thr2155Ser)
c.6395C>G (p.Thr2132Ser)
c.1181C>G (p.Thr394Ser)
c.7031C>G (p.Thr2344Ser)
c.6842C>G (p.Thr2281Ser)
c.5246C>G (p.Thr1749Ser)
n.7382C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51887136G=CA1628595339PKHD1c.7106C= (p.Thr2369=)
c.6464C= (p.Thr2155=)
c.6395C= (p.Thr2132=)
c.1181C= (p.Thr394=)
c.7031C= (p.Thr2344=)
c.6842C= (p.Thr2281=)
c.5246C= (p.Thr1749=)
n.7382C=
6g.51887136G>TCA364424138PKHD1c.7106C>A (p.Thr2369Asn)
c.6464C>A (p.Thr2155Asn)
c.6395C>A (p.Thr2132Asn)
c.1181C>A (p.Thr394Asn)
c.7031C>A (p.Thr2344Asn)
c.6842C>A (p.Thr2281Asn)
c.5246C>A (p.Thr1749Asn)
n.7382C>A
 gnomAD v4
6g.51887137T>ACA364424142PKHD1c.7105A>T (p.Thr2369Ser)
c.6463A>T (p.Thr2155Ser)
c.6394A>T (p.Thr2132Ser)
c.1180A>T (p.Thr394Ser)
c.7030A>T (p.Thr2344Ser)
c.6841A>T (p.Thr2281Ser)
c.5245A>T (p.Thr1749Ser)
n.7381A>T
6g.51887137T>CCA364424143PKHD1c.7105A>G (p.Thr2369Ala)
c.6463A>G (p.Thr2155Ala)
c.6394A>G (p.Thr2132Ala)
c.1180A>G (p.Thr394Ala)
c.7030A>G (p.Thr2344Ala)
c.6841A>G (p.Thr2281Ala)
c.5245A>G (p.Thr1749Ala)
n.7381A>G
 gnomAD v4
6g.51887137T>GCA138900156PKHD1c.7105A>C (p.Thr2369Pro)
c.6463A>C (p.Thr2155Pro)
c.6394A>C (p.Thr2132Pro)
c.1180A>C (p.Thr394Pro)
c.7030A>C (p.Thr2344Pro)
c.6841A>C (p.Thr2281Pro)
c.5245A>C (p.Thr1749Pro)
n.7381A>C
 dbSNP gnomAD v4
6g.51887137T=CA1628595340PKHD1c.7105A= (p.Thr2369=)
c.6463A= (p.Thr2155=)
c.6394A= (p.Thr2132=)
c.1180A= (p.Thr394=)
c.7030A= (p.Thr2344=)
c.6841A= (p.Thr2281=)
c.5245A= (p.Thr1749=)
n.7381A=
6g.51887138A=CA1628595341PKHD1c.7104T= (p.Cys2368=)
c.6462T= (p.Cys2154=)
c.6393T= (p.Cys2131=)
c.1179T= (p.Cys393=)
c.7029T= (p.Cys2343=)
c.6840T= (p.Cys2280=)
c.5244T= (p.Cys1748=)
n.7380T=
6g.51887138A>CCA364424146PKHD1c.7104T>G (p.Cys2368Trp)
c.6462T>G (p.Cys2154Trp)
c.6393T>G (p.Cys2131Trp)
c.1179T>G (p.Cys393Trp)
c.7029T>G (p.Cys2343Trp)
c.6840T>G (p.Cys2280Trp)
c.5244T>G (p.Cys1748Trp)
n.7380T>G
6g.51887138A>GCA450414373PKHD1c.7104T>C (p.Cys2368=)
c.6462T>C (p.Cys2154=)
c.6393T>C (p.Cys2131=)
c.1179T>C (p.Cys393=)
c.7029T>C (p.Cys2343=)
c.6840T>C (p.Cys2280=)
c.5244T>C (p.Cys1748=)
n.7380T>C
 dbSNP gnomAD v3 gnomAD v4
6g.51887138A>TCA364424148PKHD1c.7104T>A (p.Cys2368Ter)
c.6462T>A (p.Cys2154Ter)
c.6393T>A (p.Cys2131Ter)
c.1179T>A (p.Cys393Ter)
c.7029T>A (p.Cys2343Ter)
c.6840T>A (p.Cys2280Ter)
c.5244T>A (p.Cys1748Ter)
n.7380T>A
 dbSNP gnomAD v3 gnomAD v4
6g.51887139C>ACA3852056PKHD1c.7103G>T (p.Cys2368Phe)
c.6461G>T (p.Cys2154Phe)
c.6392G>T (p.Cys2131Phe)
c.1178G>T (p.Cys393Phe)
c.7028G>T (p.Cys2343Phe)
c.6839G>T (p.Cys2280Phe)
c.5243G>T (p.Cys1748Phe)
n.7379G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51887139C=CA1628595342PKHD1c.7103G= (p.Cys2368=)
c.6461G= (p.Cys2154=)
c.6392G= (p.Cys2131=)
c.1178G= (p.Cys393=)
c.7028G= (p.Cys2343=)
c.6839G= (p.Cys2280=)
c.5243G= (p.Cys1748=)
n.7379G=
6g.51887139C>GCA364424151PKHD1c.7103G>C (p.Cys2368Ser)
c.6461G>C (p.Cys2154Ser)
c.6392G>C (p.Cys2131Ser)
c.1178G>C (p.Cys393Ser)
c.7028G>C (p.Cys2343Ser)
c.6839G>C (p.Cys2280Ser)
c.5243G>C (p.Cys1748Ser)
n.7379G>C
6g.51887139C>TCA364424153PKHD1c.7103G>A (p.Cys2368Tyr)
c.6461G>A (p.Cys2154Tyr)
c.6392G>A (p.Cys2131Tyr)
c.1178G>A (p.Cys393Tyr)
c.7028G>A (p.Cys2343Tyr)
c.6839G>A (p.Cys2280Tyr)
c.5243G>A (p.Cys1748Tyr)
n.7379G>A
 gnomAD v4
6g.51887140A=CA1628595343PKHD1c.7102T= (p.Cys2368=)
c.6460T= (p.Cys2154=)
c.6391T= (p.Cys2131=)
c.1177T= (p.Cys393=)
c.7027T= (p.Cys2343=)
c.6838T= (p.Cys2280=)
c.5242T= (p.Cys1748=)
n.7378T=
6g.51887140A>CCA364424155PKHD1c.7102T>G (p.Cys2368Gly)
c.6460T>G (p.Cys2154Gly)
c.6391T>G (p.Cys2131Gly)
c.1177T>G (p.Cys393Gly)
c.7027T>G (p.Cys2343Gly)
c.6838T>G (p.Cys2280Gly)
c.5242T>G (p.Cys1748Gly)
n.7378T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51887140A>GCA364424157PKHD1c.7102T>C (p.Cys2368Arg)
c.6460T>C (p.Cys2154Arg)
c.6391T>C (p.Cys2131Arg)
c.1177T>C (p.Cys393Arg)
c.7027T>C (p.Cys2343Arg)
c.6838T>C (p.Cys2280Arg)
c.5242T>C (p.Cys1748Arg)
n.7378T>C
6g.51887140A>TCA364424159PKHD1c.7102T>A (p.Cys2368Ser)
c.6460T>A (p.Cys2154Ser)
c.6391T>A (p.Cys2131Ser)
c.1177T>A (p.Cys393Ser)
c.7027T>A (p.Cys2343Ser)
c.6838T>A (p.Cys2280Ser)
c.5242T>A (p.Cys1748Ser)
n.7378T>A
6g.51887141A>CCA450414376PKHD1c.7101T>G (p.Ser2367=)
c.6459T>G (p.Ser2153=)
c.6390T>G (p.Ser2130=)
c.1176T>G (p.Ser392=)
c.7026T>G (p.Ser2342=)
c.6837T>G (p.Ser2279=)
c.5241T>G (p.Ser1747=)
n.7377T>G
6g.51887141A>GCA450414374PKHD1c.7101T>C (p.Ser2367=)
c.6459T>C (p.Ser2153=)
c.6390T>C (p.Ser2130=)
c.1176T>C (p.Ser392=)
c.7026T>C (p.Ser2342=)
c.6837T>C (p.Ser2279=)
c.5241T>C (p.Ser1747=)
n.7377T>C
 ClinVar
6g.51887141A>TCA450414375PKHD1c.7101T>A (p.Ser2367=)
c.6459T>A (p.Ser2153=)
c.6390T>A (p.Ser2130=)
c.1176T>A (p.Ser392=)
c.7026T>A (p.Ser2342=)
c.6837T>A (p.Ser2279=)
c.5241T>A (p.Ser1747=)
n.7377T>A
 ClinVar
6g.51887142G>ACA364424161PKHD1c.7100C>T (p.Ser2367Phe)
c.6458C>T (p.Ser2153Phe)
c.6389C>T (p.Ser2130Phe)
c.1175C>T (p.Ser392Phe)
c.7025C>T (p.Ser2342Phe)
c.6836C>T (p.Ser2279Phe)
c.5240C>T (p.Ser1747Phe)
n.7376C>T
6g.51887142G>CCA364424163PKHD1c.7100C>G (p.Ser2367Cys)
c.6458C>G (p.Ser2153Cys)
c.6389C>G (p.Ser2130Cys)
c.1175C>G (p.Ser392Cys)
c.7025C>G (p.Ser2342Cys)
c.6836C>G (p.Ser2279Cys)
c.5240C>G (p.Ser1747Cys)
n.7376C>G
6g.51887142G=CA1628595344PKHD1c.7100C= (p.Ser2367=)
c.6458C= (p.Ser2153=)
c.6389C= (p.Ser2130=)
c.1175C= (p.Ser392=)
c.7025C= (p.Ser2342=)
c.6836C= (p.Ser2279=)
c.5240C= (p.Ser1747=)
n.7376C=
6g.51887142G>TCA364424165PKHD1c.7100C>A (p.Ser2367Tyr)
c.6458C>A (p.Ser2153Tyr)
c.6389C>A (p.Ser2130Tyr)
c.1175C>A (p.Ser392Tyr)
c.7025C>A (p.Ser2342Tyr)
c.6836C>A (p.Ser2279Tyr)
c.5240C>A (p.Ser1747Tyr)
n.7376C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51887143A>CCA364424167PKHD1c.7099T>G (p.Ser2367Ala)
c.6457T>G (p.Ser2153Ala)
c.6388T>G (p.Ser2130Ala)
c.1174T>G (p.Ser392Ala)
c.7024T>G (p.Ser2342Ala)
c.6835T>G (p.Ser2279Ala)
c.5239T>G (p.Ser1747Ala)
n.7375T>G
6g.51887143A>GCA364424169PKHD1c.7099T>C (p.Ser2367Pro)
c.6457T>C (p.Ser2153Pro)
c.6388T>C (p.Ser2130Pro)
c.1174T>C (p.Ser392Pro)
c.7024T>C (p.Ser2342Pro)
c.6835T>C (p.Ser2279Pro)
c.5239T>C (p.Ser1747Pro)
n.7375T>C
6g.51887143A>TCA364424171PKHD1c.7099T>A (p.Ser2367Thr)
c.6457T>A (p.Ser2153Thr)
c.6388T>A (p.Ser2130Thr)
c.1174T>A (p.Ser392Thr)
c.7024T>A (p.Ser2342Thr)
c.6835T>A (p.Ser2279Thr)
c.5239T>A (p.Ser1747Thr)
n.7375T>A
6g.51887144A>CCA364424172PKHD1c.7098T>G (p.His2366Gln)
c.6456T>G (p.His2152Gln)
c.6387T>G (p.His2129Gln)
c.1173T>G (p.His391Gln)
c.7023T>G (p.His2341Gln)
c.6834T>G (p.His2278Gln)
c.5238T>G (p.His1746Gln)
n.7374T>G
6g.51887144A>GCA450414377PKHD1c.7098T>C (p.His2366=)
c.6456T>C (p.His2152=)
c.6387T>C (p.His2129=)
c.1173T>C (p.His391=)
c.7023T>C (p.His2341=)
c.6834T>C (p.His2278=)
c.5238T>C (p.His1746=)
n.7374T>C
6g.51887144A>TCA364424174PKHD1c.7098T>A (p.His2366Gln)
c.6456T>A (p.His2152Gln)
c.6387T>A (p.His2129Gln)
c.1173T>A (p.His391Gln)
c.7023T>A (p.His2341Gln)
c.6834T>A (p.His2278Gln)
c.5238T>A (p.His1746Gln)
n.7374T>A
6g.51887145T>ACA364424177PKHD1c.7097A>T (p.His2366Leu)
c.6455A>T (p.His2152Leu)
c.6386A>T (p.His2129Leu)
c.1172A>T (p.His391Leu)
c.7022A>T (p.His2341Leu)
c.6833A>T (p.His2278Leu)
c.5237A>T (p.His1746Leu)
n.7373A>T
6g.51887145T>CCA138900165PKHD1c.7097A>G (p.His2366Arg)
c.6455A>G (p.His2152Arg)
c.6386A>G (p.His2129Arg)
c.1172A>G (p.His391Arg)
c.7022A>G (p.His2341Arg)
c.6833A>G (p.His2278Arg)
c.5237A>G (p.His1746Arg)
n.7373A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51887145T>GCA364424179PKHD1c.7097A>C (p.His2366Pro)
c.6455A>C (p.His2152Pro)
c.6386A>C (p.His2129Pro)
c.1172A>C (p.His391Pro)
c.7022A>C (p.His2341Pro)
c.6833A>C (p.His2278Pro)
c.5237A>C (p.His1746Pro)
n.7373A>C
6g.51887145T=CA1628595345PKHD1c.7097A= (p.His2366=)
c.6455A= (p.His2152=)
c.6386A= (p.His2129=)
c.1172A= (p.His391=)
c.7022A= (p.His2341=)
c.6833A= (p.His2278=)
c.5237A= (p.His1746=)
n.7373A=
6g.51887146G>ACA364424182PKHD1c.7096C>T (p.His2366Tyr)
c.6454C>T (p.His2152Tyr)
c.6385C>T (p.His2129Tyr)
c.1171C>T (p.His391Tyr)
c.7021C>T (p.His2341Tyr)
c.6832C>T (p.His2278Tyr)
c.5236C>T (p.His1746Tyr)
n.7372C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51887146G>CCA364424183PKHD1c.7096C>G (p.His2366Asp)
c.6454C>G (p.His2152Asp)
c.6385C>G (p.His2129Asp)
c.1171C>G (p.His391Asp)
c.7021C>G (p.His2341Asp)
c.6832C>G (p.His2278Asp)
c.5236C>G (p.His1746Asp)
n.7372C>G
6g.51887146G=CA1628595346PKHD1c.7096C= (p.His2366=)
c.6454C= (p.His2152=)
c.6385C= (p.His2129=)
c.1171C= (p.His391=)
c.7021C= (p.His2341=)
c.6832C= (p.His2278=)
c.5236C= (p.His1746=)
n.7372C=
6g.51887146G>TCA364424185PKHD1c.7096C>A (p.His2366Asn)
c.6454C>A (p.His2152Asn)
c.6385C>A (p.His2129Asn)
c.1171C>A (p.His391Asn)
c.7021C>A (p.His2341Asn)
c.6832C>A (p.His2278Asn)
c.5236C>A (p.His1746Asn)
n.7372C>A
 gnomAD v4
6g.51887147T>ACA450414378PKHD1c.7095A>T (p.Ala2365=)
c.6453A>T (p.Ala2151=)
c.6384A>T (p.Ala2128=)
c.1170A>T (p.Ala390=)
c.7020A>T (p.Ala2340=)
c.6831A>T (p.Ala2277=)
c.5235A>T (p.Ala1745=)
n.7371A>T
 dbSNP gnomAD v3 gnomAD v4
6g.51887147T>CCA450414379PKHD1c.7095A>G (p.Ala2365=)
c.6453A>G (p.Ala2151=)
c.6384A>G (p.Ala2128=)
c.1170A>G (p.Ala390=)
c.7020A>G (p.Ala2340=)
c.6831A>G (p.Ala2277=)
c.5235A>G (p.Ala1745=)
n.7371A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51887147T>GCA450414380PKHD1c.7095A>C (p.Ala2365=)
c.6453A>C (p.Ala2151=)
c.6384A>C (p.Ala2128=)
c.1170A>C (p.Ala390=)
c.7020A>C (p.Ala2340=)
c.6831A>C (p.Ala2277=)
c.5235A>C (p.Ala1745=)
n.7371A>C
6g.51887147T=CA1628595347PKHD1c.7095A= (p.Ala2365=)
c.6453A= (p.Ala2151=)
c.6384A= (p.Ala2128=)
c.1170A= (p.Ala390=)
c.7020A= (p.Ala2340=)
c.6831A= (p.Ala2277=)
c.5235A= (p.Ala1745=)
n.7371A=
6g.51887148delCA2578645150PKHD1c.7094del (p.Ala2365AspfsTer?)
c.6452del (p.Ala2151AspfsTer?)
c.6383del (p.Ala2128AspfsTer?)
c.1169del (p.Ala390AspfsTer?)
c.7019del (p.Ala2340AspfsTer?)
c.6830del (p.Ala2277AspfsTer?)
c.5234del (p.Ala1745AspfsTer?)
n.7370del
6g.51887148G>ACA364424187PKHD1c.7094C>T (p.Ala2365Val)
c.6452C>T (p.Ala2151Val)
c.6383C>T (p.Ala2128Val)
c.1169C>T (p.Ala390Val)
c.7019C>T (p.Ala2340Val)
c.6830C>T (p.Ala2277Val)
c.5234C>T (p.Ala1745Val)
n.7370C>T
6g.51887148G>CCA364424188PKHD1c.7094C>G (p.Ala2365Gly)
c.6452C>G (p.Ala2151Gly)
c.6383C>G (p.Ala2128Gly)
c.1169C>G (p.Ala390Gly)
c.7019C>G (p.Ala2340Gly)
c.6830C>G (p.Ala2277Gly)
c.5234C>G (p.Ala1745Gly)
n.7370C>G
6g.51887148G>TCA364424190PKHD1c.7094C>A (p.Ala2365Glu)
c.6452C>A (p.Ala2151Glu)
c.6383C>A (p.Ala2128Glu)
c.1169C>A (p.Ala390Glu)
c.7019C>A (p.Ala2340Glu)
c.6830C>A (p.Ala2277Glu)
c.5234C>A (p.Ala1745Glu)
n.7370C>A
 gnomAD v4
6g.51887149C>ACA364424193PKHD1c.7093G>T (p.Ala2365Ser)
c.6451G>T (p.Ala2151Ser)
c.6382G>T (p.Ala2128Ser)
c.1168G>T (p.Ala390Ser)
c.7018G>T (p.Ala2340Ser)
c.6829G>T (p.Ala2277Ser)
c.5233G>T (p.Ala1745Ser)
n.7369G>T
6g.51887149C=CA1628595348PKHD1c.7093G= (p.Ala2365=)
c.6451G= (p.Ala2151=)
c.6382G= (p.Ala2128=)
c.1168G= (p.Ala390=)
c.7018G= (p.Ala2340=)
c.6829G= (p.Ala2277=)
c.5233G= (p.Ala1745=)
n.7369G=
6g.51887149C>GCA364424194PKHD1c.7093G>C (p.Ala2365Pro)
c.6451G>C (p.Ala2151Pro)
c.6382G>C (p.Ala2128Pro)
c.1168G>C (p.Ala390Pro)
c.7018G>C (p.Ala2340Pro)
c.6829G>C (p.Ala2277Pro)
c.5233G>C (p.Ala1745Pro)
n.7369G>C
6g.51887149C>TCA364424196PKHD1c.7093G>A (p.Ala2365Thr)
c.6451G>A (p.Ala2151Thr)
c.6382G>A (p.Ala2128Thr)
c.1168G>A (p.Ala390Thr)
c.7018G>A (p.Ala2340Thr)
c.6829G>A (p.Ala2277Thr)
c.5233G>A (p.Ala1745Thr)
n.7369G>A
 dbSNP
6g.51887150A=CA1628595349PKHD1c.7092T= (p.Ile2364=)
c.6450T= (p.Ile2150=)
c.6381T= (p.Ile2127=)
c.1167T= (p.Ile389=)
c.7017T= (p.Ile2339=)
c.6828T= (p.Ile2276=)
c.5232T= (p.Ile1744=)
n.7368T=
6g.51887150A>CCA3852057PKHD1c.7092T>G (p.Ile2364Met)
c.6450T>G (p.Ile2150Met)
c.6381T>G (p.Ile2127Met)
c.1167T>G (p.Ile389Met)
c.7017T>G (p.Ile2339Met)
c.6828T>G (p.Ile2276Met)
c.5232T>G (p.Ile1744Met)
n.7368T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887150A>GCA450414381PKHD1c.7092T>C (p.Ile2364=)
c.6450T>C (p.Ile2150=)
c.6381T>C (p.Ile2127=)
c.1167T>C (p.Ile389=)
c.7017T>C (p.Ile2339=)
c.6828T>C (p.Ile2276=)
c.5232T>C (p.Ile1744=)
n.7368T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51887150A>TCA450414382PKHD1c.7092T>A (p.Ile2364=)
c.6450T>A (p.Ile2150=)
c.6381T>A (p.Ile2127=)
c.1167T>A (p.Ile389=)
c.7017T>A (p.Ile2339=)
c.6828T>A (p.Ile2276=)
c.5232T>A (p.Ile1744=)
n.7368T>A
6g.51887151A=CA1628595350PKHD1c.7091T= (p.Ile2364=)
c.6449T= (p.Ile2150=)
c.6380T= (p.Ile2127=)
c.1166T= (p.Ile389=)
c.7016T= (p.Ile2339=)
c.6827T= (p.Ile2276=)
c.5231T= (p.Ile1744=)
n.7367T=
6g.51887151A>CCA364424201PKHD1c.7091T>G (p.Ile2364Ser)
c.6449T>G (p.Ile2150Ser)
c.6380T>G (p.Ile2127Ser)
c.1166T>G (p.Ile389Ser)
c.7016T>G (p.Ile2339Ser)
c.6827T>G (p.Ile2276Ser)
c.5231T>G (p.Ile1744Ser)
n.7367T>G
6g.51887151A>GCA138900175PKHD1c.7091T>C (p.Ile2364Thr)
c.6449T>C (p.Ile2150Thr)
c.6380T>C (p.Ile2127Thr)
c.1166T>C (p.Ile389Thr)
c.7016T>C (p.Ile2339Thr)
c.6827T>C (p.Ile2276Thr)
c.5231T>C (p.Ile1744Thr)
n.7367T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51887151A>TCA3852058PKHD1c.7091T>A (p.Ile2364Asn)
c.6449T>A (p.Ile2150Asn)
c.6380T>A (p.Ile2127Asn)
c.1166T>A (p.Ile389Asn)
c.7016T>A (p.Ile2339Asn)
c.6827T>A (p.Ile2276Asn)
c.5231T>A (p.Ile1744Asn)
n.7367T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887152T>ACA364424204PKHD1c.7090A>T (p.Ile2364Phe)
c.6448A>T (p.Ile2150Phe)
c.6379A>T (p.Ile2127Phe)
c.1165A>T (p.Ile389Phe)
c.7015A>T (p.Ile2339Phe)
c.6826A>T (p.Ile2276Phe)
c.5230A>T (p.Ile1744Phe)
n.7366A>T
6g.51887152T>CCA3852059PKHD1c.7090A>G (p.Ile2364Val)
c.6448A>G (p.Ile2150Val)
c.6379A>G (p.Ile2127Val)
c.1165A>G (p.Ile389Val)
c.7015A>G (p.Ile2339Val)
c.6826A>G (p.Ile2276Val)
c.5230A>G (p.Ile1744Val)
n.7366A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887152T>GCA364424205PKHD1c.7090A>C (p.Ile2364Leu)
c.6448A>C (p.Ile2150Leu)
c.6379A>C (p.Ile2127Leu)
c.1165A>C (p.Ile389Leu)
c.7015A>C (p.Ile2339Leu)
c.6826A>C (p.Ile2276Leu)
c.5230A>C (p.Ile1744Leu)
n.7366A>C
6g.51887152T=CA1628595351PKHD1c.7090A= (p.Ile2364=)
c.6448A= (p.Ile2150=)
c.6379A= (p.Ile2127=)
c.1165A= (p.Ile389=)
c.7015A= (p.Ile2339=)
c.6826A= (p.Ile2276=)
c.5230A= (p.Ile1744=)
n.7366A=
6g.51887153G>ACA450414383PKHD1c.7089C>T (p.Asn2363=)
c.6447C>T (p.Asn2149=)
c.6378C>T (p.Asn2126=)
c.1164C>T (p.Asn388=)
c.7014C>T (p.Asn2338=)
c.6825C>T (p.Asn2275=)
c.5229C>T (p.Asn1743=)
n.7365C>T
6g.51887153G>CCA364424208PKHD1c.7089C>G (p.Asn2363Lys)
c.6447C>G (p.Asn2149Lys)
c.6378C>G (p.Asn2126Lys)
c.1164C>G (p.Asn388Lys)
c.7014C>G (p.Asn2338Lys)
c.6825C>G (p.Asn2275Lys)
c.5229C>G (p.Asn1743Lys)
n.7365C>G
6g.51887153G>TCA364424210PKHD1c.7089C>A (p.Asn2363Lys)
c.6447C>A (p.Asn2149Lys)
c.6378C>A (p.Asn2126Lys)
c.1164C>A (p.Asn388Lys)
c.7014C>A (p.Asn2338Lys)
c.6825C>A (p.Asn2275Lys)
c.5229C>A (p.Asn1743Lys)
n.7365C>A
 gnomAD v4
6g.51887154T>ACA364424212PKHD1c.7088A>T (p.Asn2363Ile)
c.6446A>T (p.Asn2149Ile)
c.6377A>T (p.Asn2126Ile)
c.1163A>T (p.Asn388Ile)
c.7013A>T (p.Asn2338Ile)
c.6824A>T (p.Asn2275Ile)
c.5228A>T (p.Asn1743Ile)
n.7364A>T
 gnomAD v4 COSMIC COSMIC
6g.51887154T>CCA364424214PKHD1c.7088A>G (p.Asn2363Ser)
c.6446A>G (p.Asn2149Ser)
c.6377A>G (p.Asn2126Ser)
c.1163A>G (p.Asn388Ser)
c.7013A>G (p.Asn2338Ser)
c.6824A>G (p.Asn2275Ser)
c.5228A>G (p.Asn1743Ser)
n.7364A>G
 gnomAD v4
6g.51887154T>GCA364424216PKHD1c.7088A>C (p.Asn2363Thr)
c.6446A>C (p.Asn2149Thr)
c.6377A>C (p.Asn2126Thr)
c.1163A>C (p.Asn388Thr)
c.7013A>C (p.Asn2338Thr)
c.6824A>C (p.Asn2275Thr)
c.5228A>C (p.Asn1743Thr)
n.7364A>C
6g.51887155T>ACA364424219PKHD1c.7087A>T (p.Asn2363Tyr)
c.6445A>T (p.Asn2149Tyr)
c.6376A>T (p.Asn2126Tyr)
c.1162A>T (p.Asn388Tyr)
c.7012A>T (p.Asn2338Tyr)
c.6823A>T (p.Asn2275Tyr)
c.5227A>T (p.Asn1743Tyr)
n.7363A>T
6g.51887155T>CCA364424220PKHD1c.7087A>G (p.Asn2363Asp)
c.6445A>G (p.Asn2149Asp)
c.6376A>G (p.Asn2126Asp)
c.1162A>G (p.Asn388Asp)
c.7012A>G (p.Asn2338Asp)
c.6823A>G (p.Asn2275Asp)
c.5227A>G (p.Asn1743Asp)
n.7363A>G
6g.51887155T>GCA364424222PKHD1c.7087A>C (p.Asn2363His)
c.6445A>C (p.Asn2149His)
c.6376A>C (p.Asn2126His)
c.1162A>C (p.Asn388His)
c.7012A>C (p.Asn2338His)
c.6823A>C (p.Asn2275His)
c.5227A>C (p.Asn1743His)
n.7363A>C
6g.51887156C>ACA364424223PKHD1c.7086G>T (p.Gln2362His)
c.6444G>T (p.Gln2148His)
c.6375G>T (p.Gln2125His)
c.1161G>T (p.Gln387His)
c.7011G>T (p.Gln2337His)
c.6822G>T (p.Gln2274His)
c.5226G>T (p.Gln1742His)
n.7362G>T
6g.51887156C>GCA364424225PKHD1c.7086G>C (p.Gln2362His)
c.6444G>C (p.Gln2148His)
c.6375G>C (p.Gln2125His)
c.1161G>C (p.Gln387His)
c.7011G>C (p.Gln2337His)
c.6822G>C (p.Gln2274His)
c.5226G>C (p.Gln1742His)
n.7362G>C
6g.51887156C>TCA450414390PKHD1c.7086G>A (p.Gln2362=)
c.6444G>A (p.Gln2148=)
c.6375G>A (p.Gln2125=)
c.1161G>A (p.Gln387=)
c.7011G>A (p.Gln2337=)
c.6822G>A (p.Gln2274=)
c.5226G>A (p.Gln1742=)
n.7362G>A
6g.51887157T>ACA364424227PKHD1c.7085A>T (p.Gln2362Leu)
c.6443A>T (p.Gln2148Leu)
c.6374A>T (p.Gln2125Leu)
c.1160A>T (p.Gln387Leu)
c.7010A>T (p.Gln2337Leu)
c.6821A>T (p.Gln2274Leu)
c.5225A>T (p.Gln1742Leu)
n.7361A>T
6g.51887157T>CCA364424228PKHD1c.7085A>G (p.Gln2362Arg)
c.6443A>G (p.Gln2148Arg)
c.6374A>G (p.Gln2125Arg)
c.1160A>G (p.Gln387Arg)
c.7010A>G (p.Gln2337Arg)
c.6821A>G (p.Gln2274Arg)
c.5225A>G (p.Gln1742Arg)
n.7361A>G
6g.51887157T>GCA364424230PKHD1c.7085A>C (p.Gln2362Pro)
c.6443A>C (p.Gln2148Pro)
c.6374A>C (p.Gln2125Pro)
c.1160A>C (p.Gln387Pro)
c.7010A>C (p.Gln2337Pro)
c.6821A>C (p.Gln2274Pro)
c.5225A>C (p.Gln1742Pro)
n.7361A>C
6g.51887158G>ACA16041044PKHD1c.7084C>T (p.Gln2362Ter)
c.6442C>T (p.Gln2148Ter)
c.6373C>T (p.Gln2125Ter)
c.1159C>T (p.Gln387Ter)
c.7009C>T (p.Gln2337Ter)
c.6820C>T (p.Gln2274Ter)
c.5224C>T (p.Gln1742Ter)
n.7360C>T
 ClinVar dbSNP
6g.51887158G>CCA364424233PKHD1c.7084C>G (p.Gln2362Glu)
c.6442C>G (p.Gln2148Glu)
c.6373C>G (p.Gln2125Glu)
c.1159C>G (p.Gln387Glu)
c.7009C>G (p.Gln2337Glu)
c.6820C>G (p.Gln2274Glu)
c.5224C>G (p.Gln1742Glu)
n.7360C>G
6g.51887158G=CA1628595352PKHD1c.7084C= (p.Gln2362=)
c.6442C= (p.Gln2148=)
c.6373C= (p.Gln2125=)
c.1159C= (p.Gln387=)
c.7009C= (p.Gln2337=)
c.6820C= (p.Gln2274=)
c.5224C= (p.Gln1742=)
n.7360C=
6g.51887158G>TCA364424234PKHD1c.7084C>A (p.Gln2362Lys)
c.6442C>A (p.Gln2148Lys)
c.6373C>A (p.Gln2125Lys)
c.1159C>A (p.Gln387Lys)
c.7009C>A (p.Gln2337Lys)
c.6820C>A (p.Gln2274Lys)
c.5224C>A (p.Gln1742Lys)
n.7360C>A
6g.51887159A>CCA450414397PKHD1c.7083T>G (p.Thr2361=)
c.6441T>G (p.Thr2147=)
c.6372T>G (p.Thr2124=)
c.1158T>G (p.Thr386=)
c.7008T>G (p.Thr2336=)
c.6819T>G (p.Thr2273=)
c.5223T>G (p.Thr1741=)
n.7359T>G
6g.51887159A>GCA450414398PKHD1c.7083T>C (p.Thr2361=)
c.6441T>C (p.Thr2147=)
c.6372T>C (p.Thr2124=)
c.1158T>C (p.Thr386=)
c.7008T>C (p.Thr2336=)
c.6819T>C (p.Thr2273=)
c.5223T>C (p.Thr1741=)
n.7359T>C
 ClinVar dbSNP gnomAD v4
6g.51887159A>TCA450414400PKHD1c.7083T>A (p.Thr2361=)
c.6441T>A (p.Thr2147=)
c.6372T>A (p.Thr2124=)
c.1158T>A (p.Thr386=)
c.7008T>A (p.Thr2336=)
c.6819T>A (p.Thr2273=)
c.5223T>A (p.Thr1741=)
n.7359T>A
6g.51887160G>ACA364424238PKHD1c.7082C>T (p.Thr2361Ile)
c.6440C>T (p.Thr2147Ile)
c.6371C>T (p.Thr2124Ile)
c.1157C>T (p.Thr386Ile)
c.7007C>T (p.Thr2336Ile)
c.6818C>T (p.Thr2273Ile)
c.5222C>T (p.Thr1741Ile)
n.7358C>T
6g.51887160G>CCA364424239PKHD1c.7082C>G (p.Thr2361Ser)
c.6440C>G (p.Thr2147Ser)
c.6371C>G (p.Thr2124Ser)
c.1157C>G (p.Thr386Ser)
c.7007C>G (p.Thr2336Ser)
c.6818C>G (p.Thr2273Ser)
c.5222C>G (p.Thr1741Ser)
n.7358C>G
 dbSNP gnomAD v4
6g.51887160G=CA1628595353PKHD1c.7082C= (p.Thr2361=)
c.6440C= (p.Thr2147=)
c.6371C= (p.Thr2124=)
c.1157C= (p.Thr386=)
c.7007C= (p.Thr2336=)
c.6818C= (p.Thr2273=)
c.5222C= (p.Thr1741=)
n.7358C=
6g.51887160G>TCA364424241PKHD1c.7082C>A (p.Thr2361Asn)
c.6440C>A (p.Thr2147Asn)
c.6371C>A (p.Thr2124Asn)
c.1157C>A (p.Thr386Asn)
c.7007C>A (p.Thr2336Asn)
c.6818C>A (p.Thr2273Asn)
c.5222C>A (p.Thr1741Asn)
n.7358C>A
 COSMIC COSMIC
6g.51887161_51887162delCA2580075485PKHD1c.7081_7082del (p.Thr2361SerfsTer17)
c.6439_6440del (p.Thr2147SerfsTer17)
c.6370_6371del (p.Thr2124SerfsTer17)
c.1156_1157del (p.Thr386SerfsTer17)
c.7006_7007del (p.Thr2336SerfsTer17)
c.6817_6818del (p.Thr2273SerfsTer17)
c.5221_5222del (p.Thr1741SerfsTer17)
n.7357_7358del
 ClinVar
6g.51887161T>ACA364424244PKHD1c.7081A>T (p.Thr2361Ser)
c.6439A>T (p.Thr2147Ser)
c.6370A>T (p.Thr2124Ser)
c.1156A>T (p.Thr386Ser)
c.7006A>T (p.Thr2336Ser)
c.6817A>T (p.Thr2273Ser)
c.5221A>T (p.Thr1741Ser)
n.7357A>T
6g.51887161T>CCA364424245PKHD1c.7081A>G (p.Thr2361Ala)
c.6439A>G (p.Thr2147Ala)
c.6370A>G (p.Thr2124Ala)
c.1156A>G (p.Thr386Ala)
c.7006A>G (p.Thr2336Ala)
c.6817A>G (p.Thr2273Ala)
c.5221A>G (p.Thr1741Ala)
n.7357A>G
6g.51887161T>GCA364424246PKHD1c.7081A>C (p.Thr2361Pro)
c.6439A>C (p.Thr2147Pro)
c.6370A>C (p.Thr2124Pro)
c.1156A>C (p.Thr386Pro)
c.7006A>C (p.Thr2336Pro)
c.6817A>C (p.Thr2273Pro)
c.5221A>C (p.Thr1741Pro)
n.7357A>C
6g.51887162G>ACA450414406PKHD1c.7080C>T (p.Phe2360=)
c.6438C>T (p.Phe2146=)
c.6369C>T (p.Phe2123=)
c.1155C>T (p.Phe385=)
c.7005C>T (p.Phe2335=)
c.6816C>T (p.Phe2272=)
c.5220C>T (p.Phe1740=)
n.7356C>T
6g.51887162G>CCA364424249PKHD1c.7080C>G (p.Phe2360Leu)
c.6438C>G (p.Phe2146Leu)
c.6369C>G (p.Phe2123Leu)
c.1155C>G (p.Phe385Leu)
c.7005C>G (p.Phe2335Leu)
c.6816C>G (p.Phe2272Leu)
c.5220C>G (p.Phe1740Leu)
n.7356C>G
6g.51887162G>TCA364424250PKHD1c.7080C>A (p.Phe2360Leu)
c.6438C>A (p.Phe2146Leu)
c.6369C>A (p.Phe2123Leu)
c.1155C>A (p.Phe385Leu)
c.7005C>A (p.Phe2335Leu)
c.6816C>A (p.Phe2272Leu)
c.5220C>A (p.Phe1740Leu)
n.7356C>A
6g.51887163A>CCA364424253PKHD1c.7079T>G (p.Phe2360Cys)
c.6437T>G (p.Phe2146Cys)
c.6368T>G (p.Phe2123Cys)
c.1154T>G (p.Phe385Cys)
c.7004T>G (p.Phe2335Cys)
c.6815T>G (p.Phe2272Cys)
c.5219T>G (p.Phe1740Cys)
n.7355T>G
6g.51887163A>GCA364424255PKHD1c.7079T>C (p.Phe2360Ser)
c.6437T>C (p.Phe2146Ser)
c.6368T>C (p.Phe2123Ser)
c.1154T>C (p.Phe385Ser)
c.7004T>C (p.Phe2335Ser)
c.6815T>C (p.Phe2272Ser)
c.5219T>C (p.Phe1740Ser)
n.7355T>C
6g.51887163A>TCA364424256PKHD1c.7079T>A (p.Phe2360Tyr)
c.6437T>A (p.Phe2146Tyr)
c.6368T>A (p.Phe2123Tyr)
c.1154T>A (p.Phe385Tyr)
c.7004T>A (p.Phe2335Tyr)
c.6815T>A (p.Phe2272Tyr)
c.5219T>A (p.Phe1740Tyr)
n.7355T>A
6g.51887164A>CCA364424262PKHD1c.7078T>G (p.Phe2360Val)
c.6436T>G (p.Phe2146Val)
c.6367T>G (p.Phe2123Val)
c.1153T>G (p.Phe385Val)
c.7003T>G (p.Phe2335Val)
c.6814T>G (p.Phe2272Val)
c.5218T>G (p.Phe1740Val)
n.7354T>G
6g.51887164A>GCA364424261PKHD1c.7078T>C (p.Phe2360Leu)
c.6436T>C (p.Phe2146Leu)
c.6367T>C (p.Phe2123Leu)
c.1153T>C (p.Phe385Leu)
c.7003T>C (p.Phe2335Leu)
c.6814T>C (p.Phe2272Leu)
c.5218T>C (p.Phe1740Leu)
n.7354T>C
6g.51887164A>TCA364424259PKHD1c.7078T>A (p.Phe2360Ile)
c.6436T>A (p.Phe2146Ile)
c.6367T>A (p.Phe2123Ile)
c.1153T>A (p.Phe385Ile)
c.7003T>A (p.Phe2335Ile)
c.6814T>A (p.Phe2272Ile)
c.5218T>A (p.Phe1740Ile)
n.7354T>A
6g.51887165G>ACA3852060PKHD1c.7077C>T (p.Ser2359=)
c.6435C>T (p.Ser2145=)
c.6366C>T (p.Ser2122=)
c.1152C>T (p.Ser384=)
c.7002C>T (p.Ser2334=)
c.6813C>T (p.Ser2271=)
c.5217C>T (p.Ser1739=)
n.7353C>T
 dbSNP ExAC gnomAD v2
6g.51887165G>CCA450414413PKHD1c.7077C>G (p.Ser2359=)
c.6435C>G (p.Ser2145=)
c.6366C>G (p.Ser2122=)
c.1152C>G (p.Ser384=)
c.7002C>G (p.Ser2334=)
c.6813C>G (p.Ser2271=)
c.5217C>G (p.Ser1739=)
n.7353C>G
6g.51887165G=CA1628595354PKHD1c.7077C= (p.Ser2359=)
c.6435C= (p.Ser2145=)
c.6366C= (p.Ser2122=)
c.1152C= (p.Ser384=)
c.7002C= (p.Ser2334=)
c.6813C= (p.Ser2271=)
c.5217C= (p.Ser1739=)
n.7353C=
6g.51887165G>TCA450414415PKHD1c.7077C>A (p.Ser2359=)
c.6435C>A (p.Ser2145=)
c.6366C>A (p.Ser2122=)
c.1152C>A (p.Ser384=)
c.7002C>A (p.Ser2334=)
c.6813C>A (p.Ser2271=)
c.5217C>A (p.Ser1739=)
n.7353C>A
6g.51887166G>ACA364424264PKHD1c.7076C>T (p.Ser2359Phe)
c.6434C>T (p.Ser2145Phe)
c.6365C>T (p.Ser2122Phe)
c.1151C>T (p.Ser384Phe)
c.7001C>T (p.Ser2334Phe)
c.6812C>T (p.Ser2271Phe)
c.5216C>T (p.Ser1739Phe)
n.7352C>T
 gnomAD v4 COSMIC COSMIC
6g.51887166G>CCA364424265PKHD1c.7076C>G (p.Ser2359Cys)
c.6434C>G (p.Ser2145Cys)
c.6365C>G (p.Ser2122Cys)
c.1151C>G (p.Ser384Cys)
c.7001C>G (p.Ser2334Cys)
c.6812C>G (p.Ser2271Cys)
c.5216C>G (p.Ser1739Cys)
n.7352C>G
6g.51887166G>TCA364424267PKHD1c.7076C>A (p.Ser2359Tyr)
c.6434C>A (p.Ser2145Tyr)
c.6365C>A (p.Ser2122Tyr)
c.1151C>A (p.Ser384Tyr)
c.7001C>A (p.Ser2334Tyr)
c.6812C>A (p.Ser2271Tyr)
c.5216C>A (p.Ser1739Tyr)
n.7352C>A
6g.51887167A>CCA364424270PKHD1c.7075T>G (p.Ser2359Ala)
c.6433T>G (p.Ser2145Ala)
c.6364T>G (p.Ser2122Ala)
c.1150T>G (p.Ser384Ala)
c.7000T>G (p.Ser2334Ala)
c.6811T>G (p.Ser2271Ala)
c.5215T>G (p.Ser1739Ala)
n.7351T>G
6g.51887167A>GCA364424271PKHD1c.7075T>C (p.Ser2359Pro)
c.6433T>C (p.Ser2145Pro)
c.6364T>C (p.Ser2122Pro)
c.1150T>C (p.Ser384Pro)
c.7000T>C (p.Ser2334Pro)
c.6811T>C (p.Ser2271Pro)
c.5215T>C (p.Ser1739Pro)
n.7351T>C
6g.51887167A>TCA364424273PKHD1c.7075T>A (p.Ser2359Thr)
c.6433T>A (p.Ser2145Thr)
c.6364T>A (p.Ser2122Thr)
c.1150T>A (p.Ser384Thr)
c.7000T>A (p.Ser2334Thr)
c.6811T>A (p.Ser2271Thr)
c.5215T>A (p.Ser1739Thr)
n.7351T>A
6g.51887168A>CCA450414421PKHD1c.7074T>G (p.Leu2358=)
c.6432T>G (p.Leu2144=)
c.6363T>G (p.Leu2121=)
c.1149T>G (p.Leu383=)
c.6999T>G (p.Leu2333=)
c.6810T>G (p.Leu2270=)
c.5214T>G (p.Leu1738=)
n.7350T>G
6g.51887168A>GCA450414423PKHD1c.7074T>C (p.Leu2358=)
c.6432T>C (p.Leu2144=)
c.6363T>C (p.Leu2121=)
c.1149T>C (p.Leu383=)
c.6999T>C (p.Leu2333=)
c.6810T>C (p.Leu2270=)
c.5214T>C (p.Leu1738=)
n.7350T>C
6g.51887168A>TCA450414425PKHD1c.7074T>A (p.Leu2358=)
c.6432T>A (p.Leu2144=)
c.6363T>A (p.Leu2121=)
c.1149T>A (p.Leu383=)
c.6999T>A (p.Leu2333=)
c.6810T>A (p.Leu2270=)
c.5214T>A (p.Leu1738=)
n.7350T>A
6g.51887169A=CA1628595355PKHD1c.7073T= (p.Leu2358=)
c.6431T= (p.Leu2144=)
c.6362T= (p.Leu2121=)
c.1148T= (p.Leu383=)
c.6998T= (p.Leu2333=)
c.6809T= (p.Leu2270=)
c.5213T= (p.Leu1738=)
n.7349T=
6g.51887169A>CCA364424275PKHD1c.7073T>G (p.Leu2358Arg)
c.6431T>G (p.Leu2144Arg)
c.6362T>G (p.Leu2121Arg)
c.1148T>G (p.Leu383Arg)
c.6998T>G (p.Leu2333Arg)
c.6809T>G (p.Leu2270Arg)
c.5213T>G (p.Leu1738Arg)
n.7349T>G
6g.51887169A>GCA364424276PKHD1c.7073T>C (p.Leu2358Pro)
c.6431T>C (p.Leu2144Pro)
c.6362T>C (p.Leu2121Pro)
c.1148T>C (p.Leu383Pro)
c.6998T>C (p.Leu2333Pro)
c.6809T>C (p.Leu2270Pro)
c.5213T>C (p.Leu1738Pro)
n.7349T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51887169A>TCA364424277PKHD1c.7073T>A (p.Leu2358His)
c.6431T>A (p.Leu2144His)
c.6362T>A (p.Leu2121His)
c.1148T>A (p.Leu383His)
c.6998T>A (p.Leu2333His)
c.6809T>A (p.Leu2270His)
c.5213T>A (p.Leu1738His)
n.7349T>A
6g.51887170G>ACA364424279PKHD1c.7072C>T (p.Leu2358Phe)
c.6430C>T (p.Leu2144Phe)
c.6361C>T (p.Leu2121Phe)
c.1147C>T (p.Leu383Phe)
c.6997C>T (p.Leu2333Phe)
c.6808C>T (p.Leu2270Phe)
c.5212C>T (p.Leu1738Phe)
n.7348C>T
6g.51887170G>CCA364424281PKHD1c.7072C>G (p.Leu2358Val)
c.6430C>G (p.Leu2144Val)
c.6361C>G (p.Leu2121Val)
c.1147C>G (p.Leu383Val)
c.6997C>G (p.Leu2333Val)
c.6808C>G (p.Leu2270Val)
c.5212C>G (p.Leu1738Val)
n.7348C>G
6g.51887170G>TCA364424283PKHD1c.7072C>A (p.Leu2358Ile)
c.6430C>A (p.Leu2144Ile)
c.6361C>A (p.Leu2121Ile)
c.1147C>A (p.Leu383Ile)
c.6997C>A (p.Leu2333Ile)
c.6808C>A (p.Leu2270Ile)
c.5212C>A (p.Leu1738Ile)
n.7348C>A
6g.51887171A=CA1628595356PKHD1c.7071T= (p.Leu2357=)
c.6429T= (p.Leu2143=)
c.6360T= (p.Leu2120=)
c.1146T= (p.Leu382=)
c.6996T= (p.Leu2332=)
c.6807T= (p.Leu2269=)
c.5211T= (p.Leu1737=)
n.7347T=
6g.51887171A>CCA3852062PKHD1c.7071T>G (p.Leu2357=)
c.6429T>G (p.Leu2143=)
c.6360T>G (p.Leu2120=)
c.1146T>G (p.Leu382=)
c.6996T>G (p.Leu2332=)
c.6807T>G (p.Leu2269=)
c.5211T>G (p.Leu1737=)
n.7347T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887171A>GCA3852061PKHD1c.7071T>C (p.Leu2357=)
c.6429T>C (p.Leu2143=)
c.6360T>C (p.Leu2120=)
c.1146T>C (p.Leu382=)
c.6996T>C (p.Leu2332=)
c.6807T>C (p.Leu2269=)
c.5211T>C (p.Leu1737=)
n.7347T>C
 ClinVar dbSNP ExAC gnomAD v2
6g.51887171A>TCA450414432PKHD1c.7071T>A (p.Leu2357=)
c.6429T>A (p.Leu2143=)
c.6360T>A (p.Leu2120=)
c.1146T>A (p.Leu382=)
c.6996T>A (p.Leu2332=)
c.6807T>A (p.Leu2269=)
c.5211T>A (p.Leu1737=)
n.7347T>A
6g.51887172A=CA1628595357PKHD1c.7070T= (p.Leu2357=)
c.6428T= (p.Leu2143=)
c.6359T= (p.Leu2120=)
c.1145T= (p.Leu382=)
c.6995T= (p.Leu2332=)
c.6806T= (p.Leu2269=)
c.5210T= (p.Leu1737=)
n.7346T=
6g.51887172A>CCA364424287PKHD1c.7070T>G (p.Leu2357Arg)
c.6428T>G (p.Leu2143Arg)
c.6359T>G (p.Leu2120Arg)
c.1145T>G (p.Leu382Arg)
c.6995T>G (p.Leu2332Arg)
c.6806T>G (p.Leu2269Arg)
c.5210T>G (p.Leu1737Arg)
n.7346T>G
6g.51887172A>GCA3852063PKHD1c.7070T>C (p.Leu2357Pro)
c.6428T>C (p.Leu2143Pro)
c.6359T>C (p.Leu2120Pro)
c.1145T>C (p.Leu382Pro)
c.6995T>C (p.Leu2332Pro)
c.6806T>C (p.Leu2269Pro)
c.5210T>C (p.Leu1737Pro)
n.7346T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887172A>TCA364424288PKHD1c.7070T>A (p.Leu2357His)
c.6428T>A (p.Leu2143His)
c.6359T>A (p.Leu2120His)
c.1145T>A (p.Leu382His)
c.6995T>A (p.Leu2332His)
c.6806T>A (p.Leu2269His)
c.5210T>A (p.Leu1737His)
n.7346T>A
 dbSNP gnomAD v4
6g.51887173G>ACA364424290PKHD1c.7069C>T (p.Leu2357Phe)
c.6427C>T (p.Leu2143Phe)
c.6358C>T (p.Leu2120Phe)
c.1144C>T (p.Leu382Phe)
c.6994C>T (p.Leu2332Phe)
c.6805C>T (p.Leu2269Phe)
c.5209C>T (p.Leu1737Phe)
n.7345C>T
 dbSNP gnomAD v4
6g.51887173G>CCA364424292PKHD1c.7069C>G (p.Leu2357Val)
c.6427C>G (p.Leu2143Val)
c.6358C>G (p.Leu2120Val)
c.1144C>G (p.Leu382Val)
c.6994C>G (p.Leu2332Val)
c.6805C>G (p.Leu2269Val)
c.5209C>G (p.Leu1737Val)
n.7345C>G
6g.51887173G=CA1628595358PKHD1c.7069C= (p.Leu2357=)
c.6427C= (p.Leu2143=)
c.6358C= (p.Leu2120=)
c.1144C= (p.Leu382=)
c.6994C= (p.Leu2332=)
c.6805C= (p.Leu2269=)
c.5209C= (p.Leu1737=)
n.7345C=
6g.51887173G>TCA364424294PKHD1c.7069C>A (p.Leu2357Ile)
c.6427C>A (p.Leu2143Ile)
c.6358C>A (p.Leu2120Ile)
c.1144C>A (p.Leu382Ile)
c.6994C>A (p.Leu2332Ile)
c.6805C>A (p.Leu2269Ile)
c.5209C>A (p.Leu1737Ile)
n.7345C>A
6g.51887174C>ACA450414438PKHD1c.7068G>T (p.Pro2356=)
c.6426G>T (p.Pro2142=)
c.6357G>T (p.Pro2119=)
c.1143G>T (p.Pro381=)
c.6993G>T (p.Pro2331=)
c.6804G>T (p.Pro2268=)
c.5208G>T (p.Pro1736=)
n.7344G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51887174C=CA1628595359PKHD1c.7068G= (p.Pro2356=)
c.6426G= (p.Pro2142=)
c.6357G= (p.Pro2119=)
c.1143G= (p.Pro381=)
c.6993G= (p.Pro2331=)
c.6804G= (p.Pro2268=)
c.5208G= (p.Pro1736=)
n.7344G=
6g.51887174C>GCA450414440PKHD1c.7068G>C (p.Pro2356=)
c.6426G>C (p.Pro2142=)
c.6357G>C (p.Pro2119=)
c.1143G>C (p.Pro381=)
c.6993G>C (p.Pro2331=)
c.6804G>C (p.Pro2268=)
c.5208G>C (p.Pro1736=)
n.7344G>C
 ClinVar dbSNP
6g.51887174C>TCA3852064PKHD1c.7068G>A (p.Pro2356=)
c.6426G>A (p.Pro2142=)
c.6357G>A (p.Pro2119=)
c.1143G>A (p.Pro381=)
c.6993G>A (p.Pro2331=)
c.6804G>A (p.Pro2268=)
c.5208G>A (p.Pro1736=)
n.7344G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51887175G>ACA3852065PKHD1c.7067C>T (p.Pro2356Leu)
c.6425C>T (p.Pro2142Leu)
c.6356C>T (p.Pro2119Leu)
c.1142C>T (p.Pro381Leu)
c.6992C>T (p.Pro2331Leu)
c.6803C>T (p.Pro2268Leu)
c.5207C>T (p.Pro1736Leu)
n.7343C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51887175G>CCA364424299PKHD1c.7067C>G (p.Pro2356Arg)
c.6425C>G (p.Pro2142Arg)
c.6356C>G (p.Pro2119Arg)
c.1142C>G (p.Pro381Arg)
c.6992C>G (p.Pro2331Arg)
c.6803C>G (p.Pro2268Arg)
c.5207C>G (p.Pro1736Arg)
n.7343C>G
6g.51887175G=CA1628595360PKHD1c.7067C= (p.Pro2356=)
c.6425C= (p.Pro2142=)
c.6356C= (p.Pro2119=)
c.1142C= (p.Pro381=)
c.6992C= (p.Pro2331=)
c.6803C= (p.Pro2268=)
c.5207C= (p.Pro1736=)
n.7343C=
6g.51887175G>TCA364424301PKHD1c.7067C>A (p.Pro2356Gln)
c.6425C>A (p.Pro2142Gln)
c.6356C>A (p.Pro2119Gln)
c.1142C>A (p.Pro381Gln)
c.6992C>A (p.Pro2331Gln)
c.6803C>A (p.Pro2268Gln)
c.5207C>A (p.Pro1736Gln)
n.7343C>A
6g.51887176G>ACA364424303PKHD1c.7066C>T (p.Pro2356Ser)
c.6424C>T (p.Pro2142Ser)
c.6355C>T (p.Pro2119Ser)
c.1141C>T (p.Pro381Ser)
c.6991C>T (p.Pro2331Ser)
c.6802C>T (p.Pro2268Ser)
c.5206C>T (p.Pro1736Ser)
n.7342C>T
 COSMIC COSMIC
6g.51887176G>CCA364424305PKHD1c.7066C>G (p.Pro2356Ala)
c.6424C>G (p.Pro2142Ala)
c.6355C>G (p.Pro2119Ala)
c.1141C>G (p.Pro381Ala)
c.6991C>G (p.Pro2331Ala)
c.6802C>G (p.Pro2268Ala)
c.5206C>G (p.Pro1736Ala)
n.7342C>G
6g.51887176G>TCA364424306PKHD1c.7066C>A (p.Pro2356Thr)
c.6424C>A (p.Pro2142Thr)
c.6355C>A (p.Pro2119Thr)
c.1141C>A (p.Pro381Thr)
c.6991C>A (p.Pro2331Thr)
c.6802C>A (p.Pro2268Thr)
c.5206C>A (p.Pro1736Thr)
n.7342C>A
6g.51887177A>CCA450414448PKHD1c.7065T>G (p.Ala2355=)
c.6423T>G (p.Ala2141=)
c.6354T>G (p.Ala2118=)
c.1140T>G (p.Ala380=)
c.6990T>G (p.Ala2330=)
c.6801T>G (p.Ala2267=)
c.5205T>G (p.Ala1735=)
n.7341T>G
6g.51887177A>GCA450414449PKHD1c.7065T>C (p.Ala2355=)
c.6423T>C (p.Ala2141=)
c.6354T>C (p.Ala2118=)
c.1140T>C (p.Ala380=)
c.6990T>C (p.Ala2330=)
c.6801T>C (p.Ala2267=)
c.5205T>C (p.Ala1735=)
n.7341T>C
6g.51887177A>TCA450414450PKHD1c.7065T>A (p.Ala2355=)
c.6423T>A (p.Ala2141=)
c.6354T>A (p.Ala2118=)
c.1140T>A (p.Ala380=)
c.6990T>A (p.Ala2330=)
c.6801T>A (p.Ala2267=)
c.5205T>A (p.Ala1735=)
n.7341T>A
6g.51887178G>ACA364424308PKHD1c.7064C>T (p.Ala2355Val)
c.6422C>T (p.Ala2141Val)
c.6353C>T (p.Ala2118Val)
c.1139C>T (p.Ala380Val)
c.6989C>T (p.Ala2330Val)
c.6800C>T (p.Ala2267Val)
c.5204C>T (p.Ala1735Val)
n.7340C>T
6g.51887178G>CCA364424310PKHD1c.7064C>G (p.Ala2355Gly)
c.6422C>G (p.Ala2141Gly)
c.6353C>G (p.Ala2118Gly)
c.1139C>G (p.Ala380Gly)
c.6989C>G (p.Ala2330Gly)
c.6800C>G (p.Ala2267Gly)
c.5204C>G (p.Ala1735Gly)
n.7340C>G
 dbSNP gnomAD v2 gnomAD v4
6g.51887178G=CA1628595361PKHD1c.7064C= (p.Ala2355=)
c.6422C= (p.Ala2141=)
c.6353C= (p.Ala2118=)
c.1139C= (p.Ala380=)
c.6989C= (p.Ala2330=)
c.6800C= (p.Ala2267=)
c.5204C= (p.Ala1735=)
n.7340C=
6g.51887178G>TCA364424307PKHD1c.7064C>A (p.Ala2355Asp)
c.6422C>A (p.Ala2141Asp)
c.6353C>A (p.Ala2118Asp)
c.1139C>A (p.Ala380Asp)
c.6989C>A (p.Ala2330Asp)
c.6800C>A (p.Ala2267Asp)
c.5204C>A (p.Ala1735Asp)
n.7340C>A
6g.51887179C>ACA364424312PKHD1c.7063G>T (p.Ala2355Ser)
c.6421G>T (p.Ala2141Ser)
c.6352G>T (p.Ala2118Ser)
c.1138G>T (p.Ala380Ser)
c.6988G>T (p.Ala2330Ser)
c.6799G>T (p.Ala2267Ser)
c.5203G>T (p.Ala1735Ser)
n.7339G>T
6g.51887179C>GCA364424316PKHD1c.7063G>C (p.Ala2355Pro)
c.6421G>C (p.Ala2141Pro)
c.6352G>C (p.Ala2118Pro)
c.1138G>C (p.Ala380Pro)
c.6988G>C (p.Ala2330Pro)
c.6799G>C (p.Ala2267Pro)
c.5203G>C (p.Ala1735Pro)
n.7339G>C
6g.51887179C>TCA364424314PKHD1c.7063G>A (p.Ala2355Thr)
c.6421G>A (p.Ala2141Thr)
c.6352G>A (p.Ala2118Thr)
c.1138G>A (p.Ala380Thr)
c.6988G>A (p.Ala2330Thr)
c.6799G>A (p.Ala2267Thr)
c.5203G>A (p.Ala1735Thr)
n.7339G>A
6g.51887179_51887180delinsCTCA1628595362PKHD1c.7062_7063delinsAG (p.Gln2354=)
c.6420_6421delinsAG (p.Gln2140=)
c.6351_6352delinsAG (p.Gln2117=)
c.1137_1138delinsAG (p.Gln379=)
c.6987_6988delinsAG (p.Gln2329=)
c.6798_6799delinsAG (p.Gln2266=)
c.5202_5203delinsAG (p.Gln1734=)
n.7338_7339delinsAG
6g.51887180T>ACA364424317PKHD1c.7062A>T (p.Gln2354His)
c.6420A>T (p.Gln2140His)
c.6351A>T (p.Gln2117His)
c.1137A>T (p.Gln379His)
c.6987A>T (p.Gln2329His)
c.6798A>T (p.Gln2266His)
c.5202A>T (p.Gln1734His)
n.7338A>T
6g.51887180T>CCA450414459PKHD1c.7062A>G (p.Gln2354=)
c.6420A>G (p.Gln2140=)
c.6351A>G (p.Gln2117=)
c.1137A>G (p.Gln379=)
c.6987A>G (p.Gln2329=)
c.6798A>G (p.Gln2266=)
c.5202A>G (p.Gln1734=)
n.7338A>G
6g.51887180T>GCA364424319PKHD1c.7062A>C (p.Gln2354His)
c.6420A>C (p.Gln2140His)
c.6351A>C (p.Gln2117His)
c.1137A>C (p.Gln379His)
c.6987A>C (p.Gln2329His)
c.6798A>C (p.Gln2266His)
c.5202A>C (p.Gln1734His)
n.7338A>C
6g.51887181dupCA2679080604PKHD1c.7062dup (p.Ala2355SerfsTer24)
c.6420dup (p.Ala2141SerfsTer24)
c.6351dup (p.Ala2118SerfsTer24)
c.1137dup (p.Ala380SerfsTer24)
c.6987dup (p.Ala2330SerfsTer24)
c.6798dup (p.Ala2267SerfsTer24)
c.5202dup (p.Ala1735SerfsTer24)
n.7338dup
 gnomAD v4
6g.51887181delCA915944284PKHD1c.7062del (p.Ala2355LeufsTer?)
c.6420del (p.Ala2141LeufsTer?)
c.6351del (p.Ala2118LeufsTer?)
c.1137del (p.Ala380LeufsTer?)
c.6987del (p.Ala2330LeufsTer?)
c.6798del (p.Ala2267LeufsTer?)
c.5202del (p.Ala1735LeufsTer?)
n.7338del
 ClinVar dbSNP gnomAD v4
6g.51887181T>ACA364424321PKHD1c.7061A>T (p.Gln2354Leu)
c.6419A>T (p.Gln2140Leu)
c.6350A>T (p.Gln2117Leu)
c.1136A>T (p.Gln379Leu)
c.6986A>T (p.Gln2329Leu)
c.6797A>T (p.Gln2266Leu)
c.5201A>T (p.Gln1734Leu)
n.7337A>T
6g.51887181T>CCA364424323PKHD1c.7061A>G (p.Gln2354Arg)
c.6419A>G (p.Gln2140Arg)
c.6350A>G (p.Gln2117Arg)
c.1136A>G (p.Gln379Arg)
c.6986A>G (p.Gln2329Arg)
c.6797A>G (p.Gln2266Arg)
c.5201A>G (p.Gln1734Arg)
n.7337A>G
6g.51887181T>GCA364424328PKHD1c.7061A>C (p.Gln2354Pro)
c.6419A>C (p.Gln2140Pro)
c.6350A>C (p.Gln2117Pro)
c.1136A>C (p.Gln379Pro)
c.6986A>C (p.Gln2329Pro)
c.6797A>C (p.Gln2266Pro)
c.5201A>C (p.Gln1734Pro)
n.7337A>C
 dbSNP
6g.51887181T=CA1628595363PKHD1c.7061A= (p.Gln2354=)
c.6419A= (p.Gln2140=)
c.6350A= (p.Gln2117=)
c.1136A= (p.Gln379=)
c.6986A= (p.Gln2329=)
c.6797A= (p.Gln2266=)
c.5201A= (p.Gln1734=)
n.7337A=
6g.51887183_51887184delCA2580617255PKHD1c.7060_7061del (p.Gln2354SerfsTer24)
c.6418_6419del (p.Gln2140SerfsTer24)
c.6349_6350del (p.Gln2117SerfsTer24)
c.1135_1136del (p.Gln379SerfsTer24)
c.6985_6986del (p.Gln2329SerfsTer24)
c.6796_6797del (p.Gln2266SerfsTer24)
c.5200_5201del (p.Gln1734SerfsTer24)
n.7336_7337del
 ClinVar
6g.51887182G>ACA364424331PKHD1c.7060C>T (p.Gln2354Ter)
c.6418C>T (p.Gln2140Ter)
c.6349C>T (p.Gln2117Ter)
c.1135C>T (p.Gln379Ter)
c.6985C>T (p.Gln2329Ter)
c.6796C>T (p.Gln2266Ter)
c.5200C>T (p.Gln1734Ter)
n.7336C>T
 ClinVar dbSNP gnomAD v4
6g.51887182G>CCA364424333PKHD1c.7060C>G (p.Gln2354Glu)
c.6418C>G (p.Gln2140Glu)
c.6349C>G (p.Gln2117Glu)
c.1135C>G (p.Gln379Glu)
c.6985C>G (p.Gln2329Glu)
c.6796C>G (p.Gln2266Glu)
c.5200C>G (p.Gln1734Glu)
n.7336C>G
 gnomAD v4
6g.51887182G=CA1628595364PKHD1c.7060C= (p.Gln2354=)
c.6418C= (p.Gln2140=)
c.6349C= (p.Gln2117=)
c.1135C= (p.Gln379=)
c.6985C= (p.Gln2329=)
c.6796C= (p.Gln2266=)
c.5200C= (p.Gln1734=)
n.7336C=
6g.51887182G>TCA364424335PKHD1c.7060C>A (p.Gln2354Lys)
c.6418C>A (p.Gln2140Lys)
c.6349C>A (p.Gln2117Lys)
c.1135C>A (p.Gln379Lys)
c.6985C>A (p.Gln2329Lys)
c.6796C>A (p.Gln2266Lys)
c.5200C>A (p.Gln1734Lys)
n.7336C>A
6g.51887183T>ACA450414469PKHD1c.7059A>T (p.Ser2353=)
c.6417A>T (p.Ser2139=)
c.6348A>T (p.Ser2116=)
c.1134A>T (p.Ser378=)
c.6984A>T (p.Ser2328=)
c.6795A>T (p.Ser2265=)
c.5199A>T (p.Ser1733=)
n.7335A>T
6g.51887183T>CCA450414468PKHD1c.7059A>G (p.Ser2353=)
c.6417A>G (p.Ser2139=)
c.6348A>G (p.Ser2116=)
c.1134A>G (p.Ser378=)
c.6984A>G (p.Ser2328=)
c.6795A>G (p.Ser2265=)
c.5199A>G (p.Ser1733=)
n.7335A>G
6g.51887183T>GCA450414467PKHD1c.7059A>C (p.Ser2353=)
c.6417A>C (p.Ser2139=)
c.6348A>C (p.Ser2116=)
c.1134A>C (p.Ser378=)
c.6984A>C (p.Ser2328=)
c.6795A>C (p.Ser2265=)
c.5199A>C (p.Ser1733=)
n.7335A>C
6g.51887184G>ACA364424336PKHD1c.7058C>T (p.Ser2353Leu)
c.6416C>T (p.Ser2139Leu)
c.6347C>T (p.Ser2116Leu)
c.1133C>T (p.Ser378Leu)
c.6983C>T (p.Ser2328Leu)
c.6794C>T (p.Ser2265Leu)
c.5198C>T (p.Ser1733Leu)
n.7334C>T
 COSMIC COSMIC
6g.51887184G>CCA364424337PKHD1c.7058C>G (p.Ser2353Ter)
c.6416C>G (p.Ser2139Ter)
c.6347C>G (p.Ser2116Ter)
c.1133C>G (p.Ser378Ter)
c.6983C>G (p.Ser2328Ter)
c.6794C>G (p.Ser2265Ter)
c.5198C>G (p.Ser1733Ter)
n.7334C>G
6g.51887184G=CA1628595365PKHD1c.7058C= (p.Ser2353=)
c.6416C= (p.Ser2139=)
c.6347C= (p.Ser2116=)
c.1133C= (p.Ser378=)
c.6983C= (p.Ser2328=)
c.6794C= (p.Ser2265=)
c.5198C= (p.Ser1733=)
n.7334C=
6g.51887184G>TCA364424338PKHD1c.7058C>A (p.Ser2353Ter)
c.6416C>A (p.Ser2139Ter)
c.6347C>A (p.Ser2116Ter)
c.1133C>A (p.Ser378Ter)
c.6983C>A (p.Ser2328Ter)
c.6794C>A (p.Ser2265Ter)
c.5198C>A (p.Ser1733Ter)
n.7334C>A
 dbSNP
6g.51887185A>CCA364424341PKHD1c.7057T>G (p.Ser2353Ala)
c.6415T>G (p.Ser2139Ala)
c.6346T>G (p.Ser2116Ala)
c.1132T>G (p.Ser378Ala)
c.6982T>G (p.Ser2328Ala)
c.6793T>G (p.Ser2265Ala)
c.5197T>G (p.Ser1733Ala)
n.7333T>G
6g.51887185A>GCA364424342PKHD1c.7057T>C (p.Ser2353Pro)
c.6415T>C (p.Ser2139Pro)
c.6346T>C (p.Ser2116Pro)
c.1132T>C (p.Ser378Pro)
c.6982T>C (p.Ser2328Pro)
c.6793T>C (p.Ser2265Pro)
c.5197T>C (p.Ser1733Pro)
n.7333T>C
6g.51887185A>TCA364424343PKHD1c.7057T>A (p.Ser2353Thr)
c.6415T>A (p.Ser2139Thr)
c.6346T>A (p.Ser2116Thr)
c.1132T>A (p.Ser378Thr)
c.6982T>A (p.Ser2328Thr)
c.6793T>A (p.Ser2265Thr)
c.5197T>A (p.Ser1733Thr)
n.7333T>A
6g.51887186T>ACA450414476PKHD1c.7056A>T (p.Thr2352=)
c.6414A>T (p.Thr2138=)
c.6345A>T (p.Thr2115=)
c.1131A>T (p.Thr377=)
c.6981A>T (p.Thr2327=)
c.6792A>T (p.Thr2264=)
c.5196A>T (p.Thr1732=)
n.7332A>T
6g.51887186T>CCA3852066PKHD1c.7056A>G (p.Thr2352=)
c.6414A>G (p.Thr2138=)
c.6345A>G (p.Thr2115=)
c.1131A>G (p.Thr377=)
c.6981A>G (p.Thr2327=)
c.6792A>G (p.Thr2264=)
c.5196A>G (p.Thr1732=)
n.7332A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887186T>GCA450414479PKHD1c.7056A>C (p.Thr2352=)
c.6414A>C (p.Thr2138=)
c.6345A>C (p.Thr2115=)
c.1131A>C (p.Thr377=)
c.6981A>C (p.Thr2327=)
c.6792A>C (p.Thr2264=)
c.5196A>C (p.Thr1732=)
n.7332A>C
6g.51887186T=CA1628595366PKHD1c.7056A= (p.Thr2352=)
c.6414A= (p.Thr2138=)
c.6345A= (p.Thr2115=)
c.1131A= (p.Thr377=)
c.6981A= (p.Thr2327=)
c.6792A= (p.Thr2264=)
c.5196A= (p.Thr1732=)
n.7332A=
6g.51887187G>ACA3852067PKHD1c.7055C>T (p.Thr2352Ile)
c.6413C>T (p.Thr2138Ile)
c.6344C>T (p.Thr2115Ile)
c.1130C>T (p.Thr377Ile)
c.6980C>T (p.Thr2327Ile)
c.6791C>T (p.Thr2264Ile)
c.5195C>T (p.Thr1732Ile)
n.7331C>T
 dbSNP ExAC
6g.51887187G>CCA364424345PKHD1c.7055C>G (p.Thr2352Arg)
c.6413C>G (p.Thr2138Arg)
c.6344C>G (p.Thr2115Arg)
c.1130C>G (p.Thr377Arg)
c.6980C>G (p.Thr2327Arg)
c.6791C>G (p.Thr2264Arg)
c.5195C>G (p.Thr1732Arg)
n.7331C>G
6g.51887187G=CA1628595367PKHD1c.7055C= (p.Thr2352=)
c.6413C= (p.Thr2138=)
c.6344C= (p.Thr2115=)
c.1130C= (p.Thr377=)
c.6980C= (p.Thr2327=)
c.6791C= (p.Thr2264=)
c.5195C= (p.Thr1732=)
n.7331C=
6g.51887187G>TCA364424347PKHD1c.7055C>A (p.Thr2352Lys)
c.6413C>A (p.Thr2138Lys)
c.6344C>A (p.Thr2115Lys)
c.1130C>A (p.Thr377Lys)
c.6980C>A (p.Thr2327Lys)
c.6791C>A (p.Thr2264Lys)
c.5195C>A (p.Thr1732Lys)
n.7331C>A
6g.51887188T>ACA364424357PKHD1c.7054A>T (p.Thr2352Ser)
c.6412A>T (p.Thr2138Ser)
c.6343A>T (p.Thr2115Ser)
c.1129A>T (p.Thr377Ser)
c.6979A>T (p.Thr2327Ser)
c.6790A>T (p.Thr2264Ser)
c.5194A>T (p.Thr1732Ser)
n.7330A>T
6g.51887188T>CCA364424360PKHD1c.7054A>G (p.Thr2352Ala)
c.6412A>G (p.Thr2138Ala)
c.6343A>G (p.Thr2115Ala)
c.1129A>G (p.Thr377Ala)
c.6979A>G (p.Thr2327Ala)
c.6790A>G (p.Thr2264Ala)
c.5194A>G (p.Thr1732Ala)
n.7330A>G
6g.51887188T>GCA364424363PKHD1c.7054A>C (p.Thr2352Pro)
c.6412A>C (p.Thr2138Pro)
c.6343A>C (p.Thr2115Pro)
c.1129A>C (p.Thr377Pro)
c.6979A>C (p.Thr2327Pro)
c.6790A>C (p.Thr2264Pro)
c.5194A>C (p.Thr1732Pro)
n.7330A>C
6g.51887189T>ACA364424367PKHD1c.7053A>T (p.Gln2351His)
c.6411A>T (p.Gln2137His)
c.6342A>T (p.Gln2114His)
c.1128A>T (p.Gln376His)
c.6978A>T (p.Gln2326His)
c.6789A>T (p.Gln2263His)
c.5193A>T (p.Gln1731His)
n.7329A>T
6g.51887189T>CCA450414486PKHD1c.7053A>G (p.Gln2351=)
c.6411A>G (p.Gln2137=)
c.6342A>G (p.Gln2114=)
c.1128A>G (p.Gln376=)
c.6978A>G (p.Gln2326=)
c.6789A>G (p.Gln2263=)
c.5193A>G (p.Gln1731=)
n.7329A>G
6g.51887189T>GCA364424369PKHD1c.7053A>C (p.Gln2351His)
c.6411A>C (p.Gln2137His)
c.6342A>C (p.Gln2114His)
c.1128A>C (p.Gln376His)
c.6978A>C (p.Gln2326His)
c.6789A>C (p.Gln2263His)
c.5193A>C (p.Gln1731His)
n.7329A>C
6g.51887194_51887197delCA2740091353PKHD1c.7050_7053del (p.Asn2350LysfsTer?)
c.6408_6411del (p.Asn2136LysfsTer?)
c.6339_6342del (p.Asn2113LysfsTer?)
c.1125_1128del (p.Asn375LysfsTer?)
c.6975_6978del (p.Asn2325LysfsTer?)
c.6786_6789del (p.Asn2262LysfsTer?)
c.5190_5193del (p.Asn1730LysfsTer?)
n.7326_7329del
 ClinVar
6g.51887190T>ACA364424371PKHD1c.7052A>T (p.Gln2351Leu)
c.6410A>T (p.Gln2137Leu)
c.6341A>T (p.Gln2114Leu)
c.1127A>T (p.Gln376Leu)
c.6977A>T (p.Gln2326Leu)
c.6788A>T (p.Gln2263Leu)
c.5192A>T (p.Gln1731Leu)
n.7328A>T
6g.51887190T>CCA364424372PKHD1c.7052A>G (p.Gln2351Arg)
c.6410A>G (p.Gln2137Arg)
c.6341A>G (p.Gln2114Arg)
c.1127A>G (p.Gln376Arg)
c.6977A>G (p.Gln2326Arg)
c.6788A>G (p.Gln2263Arg)
c.5192A>G (p.Gln1731Arg)
n.7328A>G
 gnomAD v4
6g.51887190T>GCA364424374PKHD1c.7052A>C (p.Gln2351Pro)
c.6410A>C (p.Gln2137Pro)
c.6341A>C (p.Gln2114Pro)
c.1127A>C (p.Gln376Pro)
c.6977A>C (p.Gln2326Pro)
c.6788A>C (p.Gln2263Pro)
c.5192A>C (p.Gln1731Pro)
n.7328A>C
6g.51887191G>ACA364424381PKHD1c.7051C>T (p.Gln2351Ter)
c.6409C>T (p.Gln2137Ter)
c.6340C>T (p.Gln2114Ter)
c.1126C>T (p.Gln376Ter)
c.6976C>T (p.Gln2326Ter)
c.6787C>T (p.Gln2263Ter)
c.5191C>T (p.Gln1731Ter)
n.7327C>T
6g.51887191G>CCA364424390PKHD1c.7051C>G (p.Gln2351Glu)
c.6409C>G (p.Gln2137Glu)
c.6340C>G (p.Gln2114Glu)
c.1126C>G (p.Gln376Glu)
c.6976C>G (p.Gln2326Glu)
c.6787C>G (p.Gln2263Glu)
c.5191C>G (p.Gln1731Glu)
n.7327C>G
 gnomAD v4
6g.51887191G>TCA364424379PKHD1c.7051C>A (p.Gln2351Lys)
c.6409C>A (p.Gln2137Lys)
c.6340C>A (p.Gln2114Lys)
c.1126C>A (p.Gln376Lys)
c.6976C>A (p.Gln2326Lys)
c.6787C>A (p.Gln2263Lys)
c.5191C>A (p.Gln1731Lys)
n.7327C>A
6g.51887192G>ACA450414492PKHD1c.7050C>T (p.Asn2350=)
c.6408C>T (p.Asn2136=)
c.6339C>T (p.Asn2113=)
c.1125C>T (p.Asn375=)
c.6975C>T (p.Asn2325=)
c.6786C>T (p.Asn2262=)
c.5190C>T (p.Asn1730=)
n.7326C>T
6g.51887192G>CCA364424395PKHD1c.7050C>G (p.Asn2350Lys)
c.6408C>G (p.Asn2136Lys)
c.6339C>G (p.Asn2113Lys)
c.1125C>G (p.Asn375Lys)
c.6975C>G (p.Asn2325Lys)
c.6786C>G (p.Asn2262Lys)
c.5190C>G (p.Asn1730Lys)
n.7326C>G
6g.51887192G=CA1628595368PKHD1c.7050C= (p.Asn2350=)
c.6408C= (p.Asn2136=)
c.6339C= (p.Asn2113=)
c.1125C= (p.Asn375=)
c.6975C= (p.Asn2325=)
c.6786C= (p.Asn2262=)
c.5190C= (p.Asn1730=)
n.7326C=
6g.51887192G>TCA3852068PKHD1c.7050C>A (p.Asn2350Lys)
c.6408C>A (p.Asn2136Lys)
c.6339C>A (p.Asn2113Lys)
c.1125C>A (p.Asn375Lys)
c.6975C>A (p.Asn2325Lys)
c.6786C>A (p.Asn2262Lys)
c.5190C>A (p.Asn1730Lys)
n.7326C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51887193T>ACA364424400PKHD1c.7049A>T (p.Asn2350Ile)
c.6407A>T (p.Asn2136Ile)
c.6338A>T (p.Asn2113Ile)
c.1124A>T (p.Asn375Ile)
c.6974A>T (p.Asn2325Ile)
c.6785A>T (p.Asn2262Ile)
c.5189A>T (p.Asn1730Ile)
n.7325A>T
6g.51887193T>CCA364424405PKHD1c.7049A>G (p.Asn2350Ser)
c.6407A>G (p.Asn2136Ser)
c.6338A>G (p.Asn2113Ser)
c.1124A>G (p.Asn375Ser)
c.6974A>G (p.Asn2325Ser)
c.6785A>G (p.Asn2262Ser)
c.5189A>G (p.Asn1730Ser)
n.7325A>G
6g.51887193T>GCA364424408PKHD1c.7049A>C (p.Asn2350Thr)
c.6407A>C (p.Asn2136Thr)
c.6338A>C (p.Asn2113Thr)
c.1124A>C (p.Asn375Thr)
c.6974A>C (p.Asn2325Thr)
c.6785A>C (p.Asn2262Thr)
c.5189A>C (p.Asn1730Thr)
n.7325A>C
6g.51887194T>ACA364424410PKHD1c.7048A>T (p.Asn2350Tyr)
c.6406A>T (p.Asn2136Tyr)
c.6337A>T (p.Asn2113Tyr)
c.1123A>T (p.Asn375Tyr)
c.6973A>T (p.Asn2325Tyr)
c.6784A>T (p.Asn2262Tyr)
c.5188A>T (p.Asn1730Tyr)
n.7324A>T
6g.51887194T>CCA364424411PKHD1c.7048A>G (p.Asn2350Asp)
c.6406A>G (p.Asn2136Asp)
c.6337A>G (p.Asn2113Asp)
c.1123A>G (p.Asn375Asp)
c.6973A>G (p.Asn2325Asp)
c.6784A>G (p.Asn2262Asp)
c.5188A>G (p.Asn1730Asp)
n.7324A>G
 dbSNP
6g.51887194T>GCA364424412PKHD1c.7048A>C (p.Asn2350His)
c.6406A>C (p.Asn2136His)
c.6337A>C (p.Asn2113His)
c.1123A>C (p.Asn375His)
c.6973A>C (p.Asn2325His)
c.6784A>C (p.Asn2262His)
c.5188A>C (p.Asn1730His)
n.7324A>C
6g.51887195G>ACA450414499PKHD1c.7047C>T (p.Thr2349=)
c.6405C>T (p.Thr2135=)
c.6336C>T (p.Thr2112=)
c.1122C>T (p.Thr374=)
c.6972C>T (p.Thr2324=)
c.6783C>T (p.Thr2261=)
c.5187C>T (p.Thr1729=)
n.7323C>T
 ClinVar dbSNP
6g.51887195G>CCA450414500PKHD1c.7047C>G (p.Thr2349=)
c.6405C>G (p.Thr2135=)
c.6336C>G (p.Thr2112=)
c.1122C>G (p.Thr374=)
c.6972C>G (p.Thr2324=)
c.6783C>G (p.Thr2261=)
c.5187C>G (p.Thr1729=)
n.7323C>G
6g.51887195G>TCA450414501PKHD1c.7047C>A (p.Thr2349=)
c.6405C>A (p.Thr2135=)
c.6336C>A (p.Thr2112=)
c.1122C>A (p.Thr374=)
c.6972C>A (p.Thr2324=)
c.6783C>A (p.Thr2261=)
c.5187C>A (p.Thr1729=)
n.7323C>A
6g.51887196G>ACA364424413PKHD1c.7046C>T (p.Thr2349Ile)
c.6404C>T (p.Thr2135Ile)
c.6335C>T (p.Thr2112Ile)
c.1121C>T (p.Thr374Ile)
c.6971C>T (p.Thr2324Ile)
c.6782C>T (p.Thr2261Ile)
c.5186C>T (p.Thr1729Ile)
n.7322C>T
 gnomAD v4
6g.51887196G>CCA364424416PKHD1c.7046C>G (p.Thr2349Ser)
c.6404C>G (p.Thr2135Ser)
c.6335C>G (p.Thr2112Ser)
c.1121C>G (p.Thr374Ser)
c.6971C>G (p.Thr2324Ser)
c.6782C>G (p.Thr2261Ser)
c.5186C>G (p.Thr1729Ser)
n.7322C>G
6g.51887196G>TCA364424421PKHD1c.7046C>A (p.Thr2349Asn)
c.6404C>A (p.Thr2135Asn)
c.6335C>A (p.Thr2112Asn)
c.1121C>A (p.Thr374Asn)
c.6971C>A (p.Thr2324Asn)
c.6782C>A (p.Thr2261Asn)
c.5186C>A (p.Thr1729Asn)
n.7322C>A
6g.51887197T>ACA364424434PKHD1c.7045A>T (p.Thr2349Ser)
c.6403A>T (p.Thr2135Ser)
c.6334A>T (p.Thr2112Ser)
c.1120A>T (p.Thr374Ser)
c.6970A>T (p.Thr2324Ser)
c.6781A>T (p.Thr2261Ser)
c.5185A>T (p.Thr1729Ser)
n.7321A>T
6g.51887197T>CCA364424432PKHD1c.7045A>G (p.Thr2349Ala)
c.6403A>G (p.Thr2135Ala)
c.6334A>G (p.Thr2112Ala)
c.1120A>G (p.Thr374Ala)
c.6970A>G (p.Thr2324Ala)
c.6781A>G (p.Thr2261Ala)
c.5185A>G (p.Thr1729Ala)
n.7321A>G
6g.51887197T>GCA364424428PKHD1c.7045A>C (p.Thr2349Pro)
c.6403A>C (p.Thr2135Pro)
c.6334A>C (p.Thr2112Pro)
c.1120A>C (p.Thr374Pro)
c.6970A>C (p.Thr2324Pro)
c.6781A>C (p.Thr2261Pro)
c.5185A>C (p.Thr1729Pro)
n.7321A>C

Number of alleles fetched