Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.22047142_22047143delinsAT | CA2419152373 | PHEX | n.706_707delinsAT n.544+14019_544+14020delinsAT c.280_281delinsAT (p.Ile94=) c.-12_-11delinsAT (n.-12_-11delinsAT) n.959_960delinsAT | |
X | g.22047143T>A | CA412567696 | PHEX | n.707T>A n.544+14020T>A c.281T>A (p.Ile94Asn) c.-11T>A (n.-11T>A) n.960T>A | |
X | g.22047143T>C | CA412567697 | PHEX | n.707T>C n.544+14020T>C c.281T>C (p.Ile94Thr) c.-11T>C (n.-11T>C) n.960T>C | |
X | g.22047143T>G | CA412567698 | PHEX | n.707T>G n.544+14020T>G c.281T>G (p.Ile94Ser) c.-11T>G (n.-11T>G) n.960T>G | |
X | g.22047144del | CA915950887 | PHEX | n.708del n.544+14021del c.282del (p.Glu96LysfsTer12) c.-10del (n.-10del) n.961del | ClinVar dbSNP |
X | g.22047144T>A | CA515424463 | PHEX | n.708T>A n.544+14021T>A c.282T>A (p.Ile94=) c.-10T>A (n.-10T>A) n.961T>A | |
X | g.22047144T>C | CA515424464 | PHEX | n.708T>C n.544+14021T>C c.282T>C (p.Ile94=) c.-10T>C (n.-10T>C) n.961T>C | |
X | g.22047144T>G | CA412567699 | PHEX | n.708T>G n.544+14021T>G c.282T>G (p.Ile94Met) c.-10T>G (n.-10T>G) n.961T>G | |
X | g.22047145C>A | CA412567700 | PHEX | n.709C>A n.544+14022C>A c.283C>A (p.Pro95Thr) c.-9C>A (n.-9C>A) n.962C>A | |
X | g.22047145C= | CA2419152374 | PHEX | n.709C= n.544+14022C= c.283C= (p.Pro95=) c.-9C= (n.-9C=) n.962C= | |
X | g.22047145C>G | CA412567701 | PHEX | n.709C>G n.544+14022C>G c.283C>G (p.Pro95Ala) c.-9C>G (n.-9C>G) n.962C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.22047145C>T | CA412567702 | PHEX | n.709C>T n.544+14022C>T c.283C>T (p.Pro95Ser) c.-9C>T (n.-9C>T) n.962C>T | |
X | g.22047146C>A | CA412567703 | PHEX | n.710C>A n.544+14023C>A c.284C>A (p.Pro95His) c.-8C>A (n.-8C>A) n.963C>A | |
X | g.22047146C>G | CA412567704 | PHEX | n.710C>G n.544+14023C>G c.284C>G (p.Pro95Arg) c.-8C>G (n.-8C>G) n.963C>G | |
X | g.22047146C>T | CA412567705 | PHEX | n.710C>T n.544+14023C>T c.284C>T (p.Pro95Leu) c.-8C>T (n.-8C>T) n.963C>T | gnomAD v4 |
X | g.22047147C>A | CA515424465 | PHEX | n.711C>A n.544+14024C>A c.285C>A (p.Pro95=) c.-7C>A (n.-7C>A) n.964C>A | |
X | g.22047147C= | CA2419152375 | PHEX | n.711C= n.544+14024C= c.285C= (p.Pro95=) c.-7C= (n.-7C=) n.964C= | |
X | g.22047147C>G | CA10653876 | PHEX | n.711C>G n.544+14024C>G c.285C>G (p.Pro95=) c.-7C>G (n.-7C>G) n.964C>G | ClinVar dbSNP gnomAD v4 |
X | g.22047147C>T | CA515424466 | PHEX | n.711C>T n.544+14024C>T c.285C>T (p.Pro95=) c.-7C>T (n.-7C>T) n.964C>T | gnomAD v4 |
X | g.22047148G>A | CA10368010 | PHEX | n.712G>A n.544+14025G>A c.286G>A (p.Glu96Lys) c.-6G>A (n.-6G>A) n.965G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.22047148G>C | CA412567707 | PHEX | n.712G>C n.544+14025G>C c.286G>C (p.Glu96Gln) c.-6G>C (n.-6G>C) n.965G>C | |
X | g.22047148G= | CA2419152376 | PHEX | n.712G= n.544+14025G= c.286G= (p.Glu96=) c.-6G= (n.-6G=) n.965G= | |
X | g.22047148G>T | CA412567706 | PHEX | n.712G>T n.544+14025G>T c.286G>T (p.Glu96Ter) c.-6G>T (n.-6G>T) n.965G>T | |
X | g.22047149A>C | CA412567708 | PHEX | n.713A>C n.544+14026A>C c.287A>C (p.Glu96Ala) c.-5A>C (n.-5A>C) n.966A>C | |
X | g.22047149A>G | CA412567710 | PHEX | n.713A>G n.544+14026A>G c.287A>G (p.Glu96Gly) c.-5A>G (n.-5A>G) n.966A>G | |
X | g.22047149A>T | CA412567709 | PHEX | n.713A>T n.544+14026A>T c.287A>T (p.Glu96Val) c.-5A>T (n.-5A>T) n.966A>T | |
X | g.22047150del | CA2695231443 | PHEX | n.714del n.544+14027del c.288del (p.Asp97IlefsTer11) c.-4del (n.-4del) n.967del | |
X | g.22047150A= | CA2419152377 | PHEX | n.714A= n.544+14027A= c.288A= (p.Glu96=) c.-4A= (n.-4A=) n.967A= | |
X | g.22047150A>C | CA412567711 | PHEX | n.714A>C n.544+14027A>C c.288A>C (p.Glu96Asp) c.-4A>C (n.-4A>C) n.967A>C | |
X | g.22047150A>G | CA10368011 | PHEX | n.714A>G n.544+14027A>G c.288A>G (p.Glu96=) c.-4A>G (n.-4A>G) n.967A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.22047150A>T | CA412567712 | PHEX | n.714A>T n.544+14027A>T c.288A>T (p.Glu96Asp) c.-4A>T (n.-4A>T) n.967A>T | dbSNP |
X | g.22047150_22048047delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA | CA2419152378 | PHEX | n.714_775+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA n.544+14027_544+14924delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA c.288_349+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA c.-4_58+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA n.967_1028+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA | |
X | g.22047151G>A | CA412567713 | PHEX | n.715G>A n.544+14028G>A c.289G>A (p.Asp97Asn) c.-3G>A (n.-3G>A) n.968G>A | |
X | g.22047151G>C | CA412567715 | PHEX | n.715G>C n.544+14028G>C c.289G>C (p.Asp97His) c.-3G>C (n.-3G>C) n.968G>C | |
X | g.22047151G>T | CA412567714 | PHEX | n.715G>T n.544+14028G>T c.289G>T (p.Asp97Tyr) c.-3G>T (n.-3G>T) n.968G>T | |
X | g.22047151_22048047delinsAAGATATGCCT | CA1139667280 | PHEX | n.715_775+836delinsAAGATATGCCT n.544+14028_544+14924delinsAAGATATGCCT c.289_349+836delinsAAGATATGCCT c.-3_58+836delinsAAGATATGCCT n.968_1028+836delinsAAGATATGCCT | ClinVar dbSNP |
X | g.22047152A= | CA2419152379 | PHEX | n.716A= n.544+14029A= c.290A= (p.Asp97=) c.-2A= (n.-2A=) n.969A= | |
X | g.22047152A>C | CA412567716 | PHEX | n.716A>C n.544+14029A>C c.290A>C (p.Asp97Ala) c.-2A>C (n.-2A>C) n.969A>C | |
X | g.22047152A>G | CA327518451 | PHEX | n.716A>G n.544+14029A>G c.290A>G (p.Asp97Gly) c.-2A>G (n.-2A>G) n.969A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.22047152A>T | CA412567717 | PHEX | n.716A>T n.544+14029A>T c.290A>T (p.Asp97Val) c.-2A>T (n.-2A>T) n.969A>T | |
X | g.22047153T>A | CA412567718 | PHEX | n.717T>A n.544+14030T>A c.291T>A (p.Asp97Glu) c.-1T>A (n.-1T>A) n.970T>A | |
X | g.22047153T>C | CA515424467 | PHEX | n.717T>C n.544+14030T>C c.291T>C (p.Asp97=) c.-1T>C (n.-1T>C) n.970T>C | |
X | g.22047153T>G | CA412567719 | PHEX | n.717T>G n.544+14030T>G c.291T>G (p.Asp97Glu) c.-1T>G (n.-1T>G) n.970T>G | |
X | g.22047157_22047166del | CA2697552893 | PHEX | n.721_730del n.544+14034_544+14043del c.295_304del (p.Pro99GlyfsTer6) c.4_13del (p.Pro2GlyfsTer6) n.974_983del | ClinVar |
X | g.22047154A>C | CA412567722 | PHEX | n.718A>C n.544+14031A>C c.292A>C (p.Met98Leu) c.1A>C (p.Met1Leu) n.971A>C | |
X | g.22047154A>G | CA412567721 | PHEX | n.718A>G n.544+14031A>G c.292A>G (p.Met98Val) c.1A>G (p.Met1Val) n.971A>G | |
X | g.22047154A>T | CA412567720 | PHEX | n.718A>T n.544+14031A>T c.292A>T (p.Met98Leu) c.1A>T (p.Met1Leu) n.971A>T | |
X | g.22047154dup | CA2697552894 | PHEX | n.718dup n.544+14031dup c.292dup (p.Met98AsnfsTer13) c.1dup (p.Met1AsnfsTer13) n.971dup | ClinVar |
X | g.22047155T>A | CA412567723 | PHEX | n.719T>A n.544+14032T>A c.293T>A (p.Met98Lys) c.2T>A (p.Met1Lys) n.972T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.22047155T>C | CA412567724 | PHEX | n.719T>C n.544+14032T>C c.293T>C (p.Met98Thr) c.2T>C (p.Met1Thr) n.972T>C |