Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51887076C>T | CA2679080581 | PKHD1 | c.7109+57G>A (n.7109+57G>A) c.6467+57G>A (n.6467+57G>A) c.6398+57G>A (n.6398+57G>A) c.1184+57G>A (n.1184+57G>A) c.7034+57G>A (n.7034+57G>A) c.6845+57G>A (n.6845+57G>A) c.5249+57G>A (n.5249+57G>A) n.7385+57G>A | gnomAD v4 |
6 | g.51887078G>A | CA138900103 | PKHD1 | c.7109+55C>T (n.7109+55C>T) c.6467+55C>T (n.6467+55C>T) c.6398+55C>T (n.6398+55C>T) c.1184+55C>T (n.1184+55C>T) c.7034+55C>T (n.7034+55C>T) c.6845+55C>T (n.6845+55C>T) c.5249+55C>T (n.5249+55C>T) n.7385+55C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51887078G= | CA1628595310 | PKHD1 | c.7109+55C= (n.7109+55C=) c.6467+55C= (n.6467+55C=) c.6398+55C= (n.6398+55C=) c.1184+55C= (n.1184+55C=) c.7034+55C= (n.7034+55C=) c.6845+55C= (n.6845+55C=) c.5249+55C= (n.5249+55C=) n.7385+55C= | |
6 | g.51887079T>A | CA2711834697 | PKHD1 | c.7109+54A>T (n.7109+54A>T) c.6467+54A>T (n.6467+54A>T) c.6398+54A>T (n.6398+54A>T) c.1184+54A>T (n.1184+54A>T) c.7034+54A>T (n.7034+54A>T) c.6845+54A>T (n.6845+54A>T) c.5249+54A>T (n.5249+54A>T) n.7385+54A>T | dbSNP |
6 | g.51887083del | CA2578645145 | PKHD1 | c.7109+53del (n.7109+53del) c.6467+53del (n.6467+53del) c.6398+53del (n.6398+53del) c.1184+53del (n.1184+53del) c.7034+53del (n.7034+53del) c.6845+53del (n.6845+53del) c.5249+53del (n.5249+53del) n.7385+53del | gnomAD v4 |
6 | g.51887084T>C | CA567292722 | PKHD1 | c.7109+49A>G (n.7109+49A>G) c.6467+49A>G (n.6467+49A>G) c.6398+49A>G (n.6398+49A>G) c.1184+49A>G (n.1184+49A>G) c.7034+49A>G (n.7034+49A>G) c.6845+49A>G (n.6845+49A>G) c.5249+49A>G (n.5249+49A>G) n.7385+49A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51887084T= | CA1628595311 | PKHD1 | c.7109+49A= (n.7109+49A=) c.6467+49A= (n.6467+49A=) c.6398+49A= (n.6398+49A=) c.1184+49A= (n.1184+49A=) c.7034+49A= (n.7034+49A=) c.6845+49A= (n.6845+49A=) c.5249+49A= (n.5249+49A=) n.7385+49A= | |
6 | g.51887085G>T | CA2679080589 | PKHD1 | c.7109+48C>A (n.7109+48C>A) c.6467+48C>A (n.6467+48C>A) c.6398+48C>A (n.6398+48C>A) c.1184+48C>A (n.1184+48C>A) c.7034+48C>A (n.7034+48C>A) c.6845+48C>A (n.6845+48C>A) c.5249+48C>A (n.5249+48C>A) n.7385+48C>A | gnomAD v4 |
6 | g.51887087G>T | CA2578645146 | PKHD1 | c.7109+46C>A (n.7109+46C>A) c.6467+46C>A (n.6467+46C>A) c.6398+46C>A (n.6398+46C>A) c.1184+46C>A (n.1184+46C>A) c.7034+46C>A (n.7034+46C>A) c.6845+46C>A (n.6845+46C>A) c.5249+46C>A (n.5249+46C>A) n.7385+46C>A | gnomAD v4 |
6 | g.51887091T>C | CA3852042 | PKHD1 | c.7109+42A>G (n.7109+42A>G) c.6467+42A>G (n.6467+42A>G) c.6398+42A>G (n.6398+42A>G) c.1184+42A>G (n.1184+42A>G) c.7034+42A>G (n.7034+42A>G) c.6845+42A>G (n.6845+42A>G) c.5249+42A>G (n.5249+42A>G) n.7385+42A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51887091T= | CA1628595312 | PKHD1 | c.7109+42A= (n.7109+42A=) c.6467+42A= (n.6467+42A=) c.6398+42A= (n.6398+42A=) c.1184+42A= (n.1184+42A=) c.7034+42A= (n.7034+42A=) c.6845+42A= (n.6845+42A=) c.5249+42A= (n.5249+42A=) n.7385+42A= | |
6 | g.51887092C>A | CA2679080593 | PKHD1 | c.7109+41G>T (n.7109+41G>T) c.6467+41G>T (n.6467+41G>T) c.6398+41G>T (n.6398+41G>T) c.1184+41G>T (n.1184+41G>T) c.7034+41G>T (n.7034+41G>T) c.6845+41G>T (n.6845+41G>T) c.5249+41G>T (n.5249+41G>T) n.7385+41G>T | gnomAD v4 |
6 | g.51887092C= | CA1628595313 | PKHD1 | c.7109+41G= (n.7109+41G=) c.6467+41G= (n.6467+41G=) c.6398+41G= (n.6398+41G=) c.1184+41G= (n.1184+41G=) c.7034+41G= (n.7034+41G=) c.6845+41G= (n.6845+41G=) c.5249+41G= (n.5249+41G=) n.7385+41G= | |
6 | g.51887092C>T | CA3852043 | PKHD1 | c.7109+41G>A (n.7109+41G>A) c.6467+41G>A (n.6467+41G>A) c.6398+41G>A (n.6398+41G>A) c.1184+41G>A (n.1184+41G>A) c.7034+41G>A (n.7034+41G>A) c.6845+41G>A (n.6845+41G>A) c.5249+41G>A (n.5249+41G>A) n.7385+41G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51887093A= | CA1628595314 | PKHD1 | c.7109+40T= (n.7109+40T=) c.6467+40T= (n.6467+40T=) c.6398+40T= (n.6398+40T=) c.1184+40T= (n.1184+40T=) c.7034+40T= (n.7034+40T=) c.6845+40T= (n.6845+40T=) c.5249+40T= (n.5249+40T=) n.7385+40T= | |
6 | g.51887093A>G | CA3852044 | PKHD1 | c.7109+40T>C (n.7109+40T>C) c.6467+40T>C (n.6467+40T>C) c.6398+40T>C (n.6398+40T>C) c.1184+40T>C (n.1184+40T>C) c.7034+40T>C (n.7034+40T>C) c.6845+40T>C (n.6845+40T>C) c.5249+40T>C (n.5249+40T>C) n.7385+40T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51887096A= | CA1628595315 | PKHD1 | c.7109+37T= (n.7109+37T=) c.6467+37T= (n.6467+37T=) c.6398+37T= (n.6398+37T=) c.1184+37T= (n.1184+37T=) c.7034+37T= (n.7034+37T=) c.6845+37T= (n.6845+37T=) c.5249+37T= (n.5249+37T=) n.7385+37T= | |
6 | g.51887096A>C | CA3852045 | PKHD1 | c.7109+37T>G (n.7109+37T>G) c.6467+37T>G (n.6467+37T>G) c.6398+37T>G (n.6398+37T>G) c.1184+37T>G (n.1184+37T>G) c.7034+37T>G (n.7034+37T>G) c.6845+37T>G (n.6845+37T>G) c.5249+37T>G (n.5249+37T>G) n.7385+37T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51887096A>G | CA2679080595 | PKHD1 | c.7109+37T>C (n.7109+37T>C) c.6467+37T>C (n.6467+37T>C) c.6398+37T>C (n.6398+37T>C) c.1184+37T>C (n.1184+37T>C) c.7034+37T>C (n.7034+37T>C) c.6845+37T>C (n.6845+37T>C) c.5249+37T>C (n.5249+37T>C) n.7385+37T>C | gnomAD v4 |
6 | g.51887097G>A | CA138900120 | PKHD1 | c.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 |
6 | g.51887097G= | CA1628595316 | PKHD1 | c.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= | |
6 | g.51887099C>A | CA1088999755 | PKHD1 | c.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 |
6 | g.51887099C= | CA1628595318 | PKHD1 | c.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= | |
6 | g.51887099C>T | CA1628595317 | PKHD1 | c.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 |
6 | g.51887100A>C | CA2711834736 | PKHD1 | c.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 |
6 | g.51887101G>A | CA567292723 | PKHD1 | c.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 |
6 | g.51887101G= | CA1628595319 | PKHD1 | c.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= | |
6 | g.51887101G>T | CA2578645147 | PKHD1 | c.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 |
6 | g.51887102C>A | CA2771052825 | PKHD1 | c.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 | |
6 | g.51887102C= | CA1628595320 | PKHD1 | c.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= | |
6 | g.51887102C>T | CA3852046 | PKHD1 | c.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 |
6 | g.51887104A>G | CA2679080596 | PKHD1 | c.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 |
6 | g.51887107A>C | CA2679080597 | PKHD1 | c.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 |
6 | g.51887108C= | CA1628595321 | PKHD1 | c.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= | |
6 | g.51887108C>T | CA3852048 | PKHD1 | c.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 |
6 | g.51887108_51887110delinsCAT | CA1628595322 | PKHD1 | c.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 | |
6 | g.51887109A= | CA1628595324 | PKHD1 | c.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= | |
6 | g.51887109A>G | CA1628595323 | PKHD1 | c.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 |
6 | g.51887110_51887111del | CA3852047 | PKHD1 | c.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 |
6 | g.51887110T>C | CA138900125 | PKHD1 | c.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 |
6 | g.51887110T= | CA1628595325 | PKHD1 | c.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= | |
6 | g.51887111A>G | CA2679080598 | PKHD1 | c.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 |
6 | g.51887111A>T | CA2578645148 | PKHD1 | c.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 | |
6 | g.51887112G>A | CA3852049 | PKHD1 | c.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 |
6 | g.51887112G>C | CA3852051 | PKHD1 | c.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 |
6 | g.51887112G= | CA1628595326 | PKHD1 | c.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= | |
6 | g.51887112G>T | CA3852050 | PKHD1 | c.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 |
6 | g.51887113A>G | CA2679080599 | PKHD1 | c.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 |
6 | g.51887114T>A | CA3852053 | PKHD1 | c.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 |
6 | g.51887114T>C | CA3852052 | PKHD1 | c.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 |
6 | g.51887114T>G | CA567292724 | PKHD1 | c.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 |
6 | g.51887114T= | CA1628595327 | PKHD1 | c.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= | |
6 | g.51887115G>A | CA2679080600 | PKHD1 | c.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 |
6 | g.51887115G>T | CA650329136 | PKHD1 | c.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 |
6 | g.51887116A= | CA1628595328 | PKHD1 | c.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= | |
6 | g.51887116A>C | CA2679080601 | PKHD1 | c.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 |
6 | g.51887116A>G | CA825693558 | PKHD1 | c.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 |
6 | g.51887116A>T | CA2539537348 | PKHD1 | c.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 | |
6 | g.51887117A= | CA1628595329 | PKHD1 | c.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= | |
6 | g.51887117A>G | CA567292725 | PKHD1 | c.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 |
6 | g.51887117A>T | CA2679080602 | PKHD1 | c.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 |
6 | g.51887118T>G | CA2739273100 | PKHD1 | c.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 |
6 | g.51887119T>C | CA1628595331 | PKHD1 | c.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 |
6 | g.51887119T= | CA1628595330 | PKHD1 | c.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= | |
6 | g.51887122C>A | CA2771052826 | PKHD1 | c.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 | |
6 | g.51887122C>T | CA650329137 | PKHD1 | c.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 |
6 | g.51887123C>A | CA3852054 | PKHD1 | c.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 |
6 | g.51887123C= | CA1628595332 | PKHD1 | c.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= | |
6 | g.51887124C>A | CA645566606 | PKHD1 | c.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 |
6 | g.51887126A>G | CA2499218355 | PKHD1 | c.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 |
6 | g.51887128G>A | CA1628595334 | PKHD1 | c.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 |
6 | g.51887128G= | CA1628595333 | PKHD1 | c.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= | |
6 | g.51887128G>T | CA2679080603 | PKHD1 | c.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 |
6 | g.51887129T>A | CA2578645149 | PKHD1 | c.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 | |
6 | g.51887130T>A | CA645566607 | PKHD1 | c.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 |
6 | g.51887130T>G | CA915944283 | PKHD1 | c.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 |
6 | g.51887130T= | CA1628595335 | PKHD1 | c.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= | |
6 | g.51887131A>C | CA364424114 | PKHD1 | c.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 | |
6 | g.51887131A>G | CA364424113 | PKHD1 | c.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 | |
6 | g.51887131A>T | CA364424112 | PKHD1 | c.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 |
6 | g.51887132C>A | CA364424116 | PKHD1 | c.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 | |
6 | g.51887132C>G | CA364424118 | PKHD1 | c.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 | |
6 | g.51887132C>T | CA364424120 | PKHD1 | c.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 | |
6 | g.51887133C>A | CA364424122 | PKHD1 | c.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 | |
6 | g.51887133C>G | CA364424124 | PKHD1 | c.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 | |
6 | g.51887133C>T | CA364424126 | PKHD1 | c.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 | |
6 | g.51887133_51887136del | CA913110721 | PKHD1 | c.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 | |
6 | g.51887133_51887136delinsCTGG | CA1628595336 | PKHD1 | c.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 | |
6 | g.51887134del | CA2695198842 | PKHD1 | c.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 |
6 | g.51887134T>A | CA364424128 | PKHD1 | c.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 | |
6 | g.51887134T>C | CA364424131 | PKHD1 | c.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 |
6 | g.51887134T>G | CA450414370 | PKHD1 | c.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 |
6 | g.51887134T= | CA1628595337 | PKHD1 | c.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= | |
6 | g.51887135_51887137del | CA658822580 | PKHD1 | c.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 |
6 | g.51887135G>A | CA3852055 | PKHD1 | c.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 |
6 | g.51887135G>C | CA450414371 | PKHD1 | c.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 | |
6 | g.51887135G= | CA1628595338 | PKHD1 | c.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= | |
6 | g.51887135G>T | CA450414372 | PKHD1 | c.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 |
6 | g.51887136G>A | CA364424135 | PKHD1 | c.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 | |
6 | g.51887136G>C | CA364424137 | PKHD1 | c.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 |
6 | g.51887136G= | CA1628595339 | PKHD1 | c.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= | |
6 | g.51887136G>T | CA364424138 | PKHD1 | c.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 |
6 | g.51887137T>A | CA364424142 | PKHD1 | c.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 | |
6 | g.51887137T>C | CA364424143 | PKHD1 | c.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 |
6 | g.51887137T>G | CA138900156 | PKHD1 | c.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 |
6 | g.51887137T= | CA1628595340 | PKHD1 | c.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= | |
6 | g.51887138A= | CA1628595341 | PKHD1 | c.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= | |
6 | g.51887138A>C | CA364424146 | PKHD1 | c.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 | |
6 | g.51887138A>G | CA450414373 | PKHD1 | c.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 |
6 | g.51887138A>T | CA364424148 | PKHD1 | c.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 |
6 | g.51887139C>A | CA3852056 | PKHD1 | c.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 |
6 | g.51887139C= | CA1628595342 | PKHD1 | c.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= | |
6 | g.51887139C>G | CA364424151 | PKHD1 | c.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 | |
6 | g.51887139C>T | CA364424153 | PKHD1 | c.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 |
6 | g.51887140A= | CA1628595343 | PKHD1 | c.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= | |
6 | g.51887140A>C | CA364424155 | PKHD1 | c.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 |
6 | g.51887140A>G | CA364424157 | PKHD1 | c.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 | |
6 | g.51887140A>T | CA364424159 | PKHD1 | c.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 | |
6 | g.51887141A>C | CA450414376 | PKHD1 | c.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 | |
6 | g.51887141A>G | CA450414374 | PKHD1 | c.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 |
6 | g.51887141A>T | CA450414375 | PKHD1 | c.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 |
6 | g.51887142G>A | CA364424161 | PKHD1 | c.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 | |
6 | g.51887142G>C | CA364424163 | PKHD1 | c.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 | |
6 | g.51887142G= | CA1628595344 | PKHD1 | c.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= | |
6 | g.51887142G>T | CA364424165 | PKHD1 | c.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 |
6 | g.51887143A>C | CA364424167 | PKHD1 | c.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 | |
6 | g.51887143A>G | CA364424169 | PKHD1 | c.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 | |
6 | g.51887143A>T | CA364424171 | PKHD1 | c.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 | |
6 | g.51887144A>C | CA364424172 | PKHD1 | c.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 | |
6 | g.51887144A>G | CA450414377 | PKHD1 | c.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 | |
6 | g.51887144A>T | CA364424174 | PKHD1 | c.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 | |
6 | g.51887145T>A | CA364424177 | PKHD1 | c.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 | |
6 | g.51887145T>C | CA138900165 | PKHD1 | c.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 |
6 | g.51887145T>G | CA364424179 | PKHD1 | c.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 | |
6 | g.51887145T= | CA1628595345 | PKHD1 | c.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= | |
6 | g.51887146G>A | CA364424182 | PKHD1 | c.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 |
6 | g.51887146G>C | CA364424183 | PKHD1 | c.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 | |
6 | g.51887146G= | CA1628595346 | PKHD1 | c.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= | |
6 | g.51887146G>T | CA364424185 | PKHD1 | c.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 |
6 | g.51887147T>A | CA450414378 | PKHD1 | c.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 |
6 | g.51887147T>C | CA450414379 | PKHD1 | c.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 |
6 | g.51887147T>G | CA450414380 | PKHD1 | c.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 | |
6 | g.51887147T= | CA1628595347 | PKHD1 | c.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= | |
6 | g.51887148del | CA2578645150 | PKHD1 | c.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 | |
6 | g.51887148G>A | CA364424187 | PKHD1 | c.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 | |
6 | g.51887148G>C | CA364424188 | PKHD1 | c.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 | |
6 | g.51887148G>T | CA364424190 | PKHD1 | c.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 |
6 | g.51887149C>A | CA364424193 | PKHD1 | c.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 | |
6 | g.51887149C= | CA1628595348 | PKHD1 | c.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= | |
6 | g.51887149C>G | CA364424194 | PKHD1 | c.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 | |
6 | g.51887149C>T | CA364424196 | PKHD1 | c.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 |
6 | g.51887150A= | CA1628595349 | PKHD1 | c.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= | |
6 | g.51887150A>C | CA3852057 | PKHD1 | c.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 |
6 | g.51887150A>G | CA450414381 | PKHD1 | c.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 |
6 | g.51887150A>T | CA450414382 | PKHD1 | c.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 | |
6 | g.51887151A= | CA1628595350 | PKHD1 | c.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= | |
6 | g.51887151A>C | CA364424201 | PKHD1 | c.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 | |
6 | g.51887151A>G | CA138900175 | PKHD1 | c.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 |
6 | g.51887151A>T | CA3852058 | PKHD1 | c.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 |
6 | g.51887152T>A | CA364424204 | PKHD1 | c.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 | |
6 | g.51887152T>C | CA3852059 | PKHD1 | c.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 |
6 | g.51887152T>G | CA364424205 | PKHD1 | c.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 | |
6 | g.51887152T= | CA1628595351 | PKHD1 | c.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= | |
6 | g.51887153G>A | CA450414383 | PKHD1 | c.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 | |
6 | g.51887153G>C | CA364424208 | PKHD1 | c.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 | |
6 | g.51887153G>T | CA364424210 | PKHD1 | c.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 |
6 | g.51887154T>A | CA364424212 | PKHD1 | c.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 |
6 | g.51887154T>C | CA364424214 | PKHD1 | c.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 |
6 | g.51887154T>G | CA364424216 | PKHD1 | c.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 | |
6 | g.51887155T>A | CA364424219 | PKHD1 | c.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 | |
6 | g.51887155T>C | CA364424220 | PKHD1 | c.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 | |
6 | g.51887155T>G | CA364424222 | PKHD1 | c.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 | |
6 | g.51887156C>A | CA364424223 | PKHD1 | c.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 | |
6 | g.51887156C>G | CA364424225 | PKHD1 | c.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 | |
6 | g.51887156C>T | CA450414390 | PKHD1 | c.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 | |
6 | g.51887157T>A | CA364424227 | PKHD1 | c.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 | |
6 | g.51887157T>C | CA364424228 | PKHD1 | c.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 | |
6 | g.51887157T>G | CA364424230 | PKHD1 | c.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 | |
6 | g.51887158G>A | CA16041044 | PKHD1 | c.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 |
6 | g.51887158G>C | CA364424233 | PKHD1 | c.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 | |
6 | g.51887158G= | CA1628595352 | PKHD1 | c.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= | |
6 | g.51887158G>T | CA364424234 | PKHD1 | c.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 | |
6 | g.51887159A>C | CA450414397 | PKHD1 | c.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 | |
6 | g.51887159A>G | CA450414398 | PKHD1 | c.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 |
6 | g.51887159A>T | CA450414400 | PKHD1 | c.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 | |
6 | g.51887160G>A | CA364424238 | PKHD1 | c.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 | |
6 | g.51887160G>C | CA364424239 | PKHD1 | c.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 |
6 | g.51887160G= | CA1628595353 | PKHD1 | c.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= | |
6 | g.51887160G>T | CA364424241 | PKHD1 | c.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 |
6 | g.51887161_51887162del | CA2580075485 | PKHD1 | c.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 |
6 | g.51887161T>A | CA364424244 | PKHD1 | c.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 | |
6 | g.51887161T>C | CA364424245 | PKHD1 | c.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 | |
6 | g.51887161T>G | CA364424246 | PKHD1 | c.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 | |
6 | g.51887162G>A | CA450414406 | PKHD1 | c.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 | |
6 | g.51887162G>C | CA364424249 | PKHD1 | c.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 | |
6 | g.51887162G>T | CA364424250 | PKHD1 | c.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 | |
6 | g.51887163A>C | CA364424253 | PKHD1 | c.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 | |
6 | g.51887163A>G | CA364424255 | PKHD1 | c.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 | |
6 | g.51887163A>T | CA364424256 | PKHD1 | c.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 | |
6 | g.51887164A>C | CA364424262 | PKHD1 | c.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 | |
6 | g.51887164A>G | CA364424261 | PKHD1 | c.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 | |
6 | g.51887164A>T | CA364424259 | PKHD1 | c.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 | |
6 | g.51887165G>A | CA3852060 | PKHD1 | c.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 |
6 | g.51887165G>C | CA450414413 | PKHD1 | c.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 | |
6 | g.51887165G= | CA1628595354 | PKHD1 | c.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= | |
6 | g.51887165G>T | CA450414415 | PKHD1 | c.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 | |
6 | g.51887166G>A | CA364424264 | PKHD1 | c.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 |
6 | g.51887166G>C | CA364424265 | PKHD1 | c.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 | |
6 | g.51887166G>T | CA364424267 | PKHD1 | c.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 | |
6 | g.51887167A>C | CA364424270 | PKHD1 | c.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 | |
6 | g.51887167A>G | CA364424271 | PKHD1 | c.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 | |
6 | g.51887167A>T | CA364424273 | PKHD1 | c.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 | |
6 | g.51887168A>C | CA450414421 | PKHD1 | c.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 | |
6 | g.51887168A>G | CA450414423 | PKHD1 | c.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 | |
6 | g.51887168A>T | CA450414425 | PKHD1 | c.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 | |
6 | g.51887169A= | CA1628595355 | PKHD1 | c.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= | |
6 | g.51887169A>C | CA364424275 | PKHD1 | c.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 | |
6 | g.51887169A>G | CA364424276 | PKHD1 | c.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 |
6 | g.51887169A>T | CA364424277 | PKHD1 | c.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 | |
6 | g.51887170G>A | CA364424279 | PKHD1 | c.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 | |
6 | g.51887170G>C | CA364424281 | PKHD1 | c.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 | |
6 | g.51887170G>T | CA364424283 | PKHD1 | c.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 | |
6 | g.51887171A= | CA1628595356 | PKHD1 | c.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= | |
6 | g.51887171A>C | CA3852062 | PKHD1 | c.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 |
6 | g.51887171A>G | CA3852061 | PKHD1 | c.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 |
6 | g.51887171A>T | CA450414432 | PKHD1 | c.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 | |
6 | g.51887172A= | CA1628595357 | PKHD1 | c.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= | |
6 | g.51887172A>C | CA364424287 | PKHD1 | c.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 | |
6 | g.51887172A>G | CA3852063 | PKHD1 | c.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 |
6 | g.51887172A>T | CA364424288 | PKHD1 | c.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 |
6 | g.51887173G>A | CA364424290 | PKHD1 | c.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 |
6 | g.51887173G>C | CA364424292 | PKHD1 | c.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 | |
6 | g.51887173G= | CA1628595358 | PKHD1 | c.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= | |
6 | g.51887173G>T | CA364424294 | PKHD1 | c.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 | |
6 | g.51887174C>A | CA450414438 | PKHD1 | c.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 |
6 | g.51887174C= | CA1628595359 | PKHD1 | c.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= | |
6 | g.51887174C>G | CA450414440 | PKHD1 | c.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 |
6 | g.51887174C>T | CA3852064 | PKHD1 | c.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 |
6 | g.51887175G>A | CA3852065 | PKHD1 | c.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 |
6 | g.51887175G>C | CA364424299 | PKHD1 | c.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 | |
6 | g.51887175G= | CA1628595360 | PKHD1 | c.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= | |
6 | g.51887175G>T | CA364424301 | PKHD1 | c.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 | |
6 | g.51887176G>A | CA364424303 | PKHD1 | c.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 |
6 | g.51887176G>C | CA364424305 | PKHD1 | c.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 | |
6 | g.51887176G>T | CA364424306 | PKHD1 | c.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 |