Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.22033069_22033070delinsGC | CA2419147557 | PHEX | n.490_491delinsGC c.64_65delinsGC (p.Ala22=) n.743_744delinsGC | |
X | g.22033069_22033070delinsTT | CA2573055220 | PHEX | n.490_491delinsTT c.64_65delinsTT (p.Ala22Phe) n.743_744delinsTT | ClinVar dbSNP |
X | g.22033070C>A | CA412564112 | PHEX | n.491C>A c.65C>A (p.Ala22Asp) n.744C>A | |
X | g.22033070C>G | CA412564115 | PHEX | n.491C>G c.65C>G (p.Ala22Gly) n.744C>G | |
X | g.22033070C>T | CA412564118 | PHEX | n.491C>T c.65C>T (p.Ala22Val) n.744C>T | COSMIC |
X | g.22033072del | CA10605687 | PHEX | n.493del c.67del (p.Leu23TrpfsTer9) n.746del | ClinVar dbSNP |
X | g.22033071C>A | CA515423847 | PHEX | n.492C>A c.66C>A (p.Ala22=) n.745C>A | |
X | g.22033071C>G | CA515423848 | PHEX | n.492C>G c.66C>G (p.Ala22=) n.745C>G | |
X | g.22033071C>T | CA515423849 | PHEX | n.492C>T c.66C>T (p.Ala22=) n.745C>T | |
X | g.22033071_22033079delinsCCTGGTCGT | CA2419147558 | PHEX | n.492_500delinsCCTGGTCGT c.66_74delinsCCTGGTCGT (p.Ala22=) n.745_753delinsCCTGGTCGT | |
X | g.22033072C>A | CA412564121 | PHEX | n.493C>A c.67C>A (p.Leu23Met) n.746C>A | |
X | g.22033072C>G | CA412564124 | PHEX | n.493C>G c.67C>G (p.Leu23Val) n.746C>G | |
X | g.22033072C>T | CA515423850 | PHEX | n.493C>T c.67C>T (p.Leu23=) n.746C>T | |
X | g.22033072_22033073delinsCT | CA2419147559 | PHEX | n.493_494delinsCT c.67_68delinsCT (p.Leu23=) n.746_747delinsCT | |
X | g.22033072_22033079del | CA1139667273 | PHEX | n.493_500del c.67_74del (p.Leu23ValfsTer25) n.746_753del | ClinVar dbSNP |
X | g.22033073del | CA916083866 | PHEX | n.494del c.68del (p.Leu23ArgfsTer9) n.747del | ClinVar dbSNP |
X | g.22033073T>A | CA412564128 | PHEX | n.494T>A c.68T>A (p.Leu23Gln) n.747T>A | |
X | g.22033073T>C | CA412564131 | PHEX | n.494T>C c.68T>C (p.Leu23Pro) n.747T>C | COSMIC |
X | g.22033073T>G | CA412564135 | PHEX | n.494T>G c.68T>G (p.Leu23Arg) n.747T>G | |
X | g.22033074G>A | CA515423851 | PHEX | n.495G>A c.69G>A (p.Leu23=) n.748G>A | |
X | g.22033074G>C | CA515423852 | PHEX | n.495G>C c.69G>C (p.Leu23=) n.748G>C | |
X | g.22033074G>T | CA515423853 | PHEX | n.495G>T c.69G>T (p.Leu23=) n.748G>T | |
X | g.22033075G>A | CA412564138 | PHEX | n.496G>A c.70G>A (p.Val24Ile) n.749G>A | gnomAD v4 |
X | g.22033075G>C | CA412564143 | PHEX | n.496G>C c.70G>C (p.Val24Leu) n.749G>C | |
X | g.22033075G>T | CA412564140 | PHEX | n.496G>T c.70G>T (p.Val24Phe) n.749G>T | |
X | g.22033076T>A | CA412564146 | PHEX | n.497T>A c.71T>A (p.Val24Asp) n.750T>A | |
X | g.22033076T>C | CA412564148 | PHEX | n.497T>C c.71T>C (p.Val24Ala) n.750T>C | |
X | g.22033076T>G | CA412564152 | PHEX | n.497T>G c.71T>G (p.Val24Gly) n.750T>G | |
X | g.22033077C>A | CA515423854 | PHEX | n.498C>A c.72C>A (p.Val24=) n.751C>A | COSMIC |
X | g.22033077C= | CA2419147560 | PHEX | n.498C= c.72C= (p.Val24=) n.751C= | |
X | g.22033077C>G | CA515423855 | PHEX | n.498C>G c.72C>G (p.Val24=) n.751C>G | |
X | g.22033077C>T | CA515423856 | PHEX | n.498C>T c.72C>T (p.Val24=) n.751C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.22033078G>A | CA10367957 | PHEX | n.499G>A c.73G>A (p.Val25Met) n.752G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.22033078G>C | CA412564156 | PHEX | n.499G>C c.73G>C (p.Val25Leu) n.752G>C | |
X | g.22033078G= | CA2419147561 | PHEX | n.499G= c.73G= (p.Val25=) n.752G= | |
X | g.22033078G>T | CA412564157 | PHEX | n.499G>T c.73G>T (p.Val25Leu) n.752G>T | dbSNP |
X | g.22033079T>A | CA412564161 | PHEX | n.500T>A c.74T>A (p.Val25Glu) n.753T>A | |
X | g.22033079T>C | CA412564164 | PHEX | n.500T>C c.74T>C (p.Val25Ala) n.753T>C | gnomAD v4 |
X | g.22033079T>G | CA412564166 | PHEX | n.500T>G c.74T>G (p.Val25Gly) n.753T>G | |
X | g.22033080G>A | CA515423857 | PHEX | n.501G>A c.75G>A (p.Val25=) n.754G>A | |
X | g.22033080G>C | CA515423858 | PHEX | n.501G>C c.75G>C (p.Val25=) n.754G>C | |
X | g.22033080G= | CA2419147562 | PHEX | n.501G= c.75G= (p.Val25=) n.754G= | |
X | g.22033080G>T | CA515423859 | PHEX | n.501G>T c.75G>T (p.Val25=) n.754G>T | |
X | g.22033081T>A | CA412564169 | PHEX | n.502T>A c.76T>A (p.Phe26Ile) n.755T>A | |
X | g.22033081T>C | CA412564170 | PHEX | n.502T>C c.76T>C (p.Phe26Leu) n.755T>C | dbSNP |
X | g.22033081T>G | CA412564172 | PHEX | n.502T>G c.76T>G (p.Phe26Val) n.755T>G | |
X | g.22033081T= | CA2419147563 | PHEX | n.502T= c.76T= (p.Phe26=) n.755T= | |
X | g.22033083dup | CA645509368 | PHEX | n.504dup c.78dup (p.Val27CysfsTer24) n.757dup | ClinVar dbSNP |
X | g.22033082_22033083del | CA2695232260 | PHEX | n.503_504del c.77_78del (p.Phe26CysfsTer24) n.756_757del | |
X | g.22033082T>A | CA412564179 | PHEX | n.503T>A c.77T>A (p.Phe26Tyr) n.756T>A |