| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22188299_22193844del | CA645509387 | PHEX | c.141-2145_199+3342del n.371-2145_429+3342del n.1261-2145_1319+3342del c.1587-2145_1645+3342del c.831-2145_889+3342del c.480-2145_538+3342del c.1296-2145_1354+3342del n.2427-2145_2485+3342del | ClinVar |
| X | g.22190446_22190448del | CA2693307446 | PHEX | c.143_145del n.373_375del n.1263_1265del c.1589_1591del c.833_835del c.482_484del c.1298_1300del n.2429_2431del | gnomAD v4 |
| X | g.22190446G>A | CA260502 | PHEX | c.143G>A (p.Trp48Ter) n.373G>A n.1263G>A c.1589G>A (p.Trp530Ter) c.833G>A (p.Trp278Ter) c.482G>A (p.Trp161Ter) c.1298G>A (p.Trp433Ter) n.2429G>A | ClinVar dbSNP |
| X | g.22190446G>C | CA412575024 | PHEX | c.143G>C (p.Trp48Ser) n.373G>C n.1263G>C c.1589G>C (p.Trp530Ser) c.833G>C (p.Trp278Ser) c.482G>C (p.Trp161Ser) c.1298G>C (p.Trp433Ser) n.2429G>C | |
| X | g.22190446G= | CA2419199225 | PHEX | c.143G= (p.Trp48=) n.373G= n.1263G= c.1589G= (p.Trp530=) c.833G= (p.Trp278=) c.482G= (p.Trp161=) c.1298G= (p.Trp433=) n.2429G= | |
| X | g.22190446G>T | CA412575025 | PHEX | c.143G>T (p.Trp48Leu) n.373G>T n.1263G>T c.1589G>T (p.Trp530Leu) c.833G>T (p.Trp278Leu) c.482G>T (p.Trp161Leu) c.1298G>T (p.Trp433Leu) n.2429G>T | |
| X | g.22190447del | CA2695233017 | PHEX | c.144del (p.Trp48CysfsTer?) n.374del n.1264del c.1590del (p.Trp530CysfsTer?) c.834del (p.Trp278CysfsTer?) c.483del (p.Trp161CysfsTer?) c.1299del (p.Trp433CysfsTer?) n.2430del | ClinVar |
| X | g.22190447G>A | CA412575026 | PHEX | c.144G>A (p.Trp48Ter) n.374G>A n.1264G>A c.1590G>A (p.Trp530Ter) c.834G>A (p.Trp278Ter) c.483G>A (p.Trp161Ter) c.1299G>A (p.Trp433Ter) n.2430G>A | ClinVar dbSNP gnomAD v4 |
| X | g.22190447G>C | CA412575027 | PHEX | c.144G>C (p.Trp48Cys) n.374G>C n.1264G>C c.1590G>C (p.Trp530Cys) c.834G>C (p.Trp278Cys) c.483G>C (p.Trp161Cys) c.1299G>C (p.Trp433Cys) n.2430G>C | ClinVar dbSNP |
| X | g.22190447G= | CA2419199226 | PHEX | c.144G= (p.Trp48=) n.374G= n.1264G= c.1590G= (p.Trp530=) c.834G= (p.Trp278=) c.483G= (p.Trp161=) c.1299G= (p.Trp433=) n.2430G= | |
| X | g.22190447G>T | CA412575028 | PHEX | c.144G>T (p.Trp48Cys) n.374G>T n.1264G>T c.1590G>T (p.Trp530Cys) c.834G>T (p.Trp278Cys) c.483G>T (p.Trp161Cys) c.1299G>T (p.Trp433Cys) n.2430G>T | |
| X | g.22190448T>A | CA412575031 | PHEX | c.145T>A (p.Phe49Ile) n.375T>A n.1265T>A c.1591T>A (p.Phe531Ile) c.835T>A (p.Phe279Ile) c.484T>A (p.Phe162Ile) c.1300T>A (p.Phe434Ile) n.2431T>A | COSMIC |
| X | g.22190448T>C | CA412575029 | PHEX | c.145T>C (p.Phe49Leu) n.375T>C n.1265T>C c.1591T>C (p.Phe531Leu) c.835T>C (p.Phe279Leu) c.484T>C (p.Phe162Leu) c.1300T>C (p.Phe434Leu) n.2431T>C | |
| X | g.22190448T>G | CA412575030 | PHEX | c.145T>G (p.Phe49Val) n.375T>G n.1265T>G c.1591T>G (p.Phe531Val) c.835T>G (p.Phe279Val) c.484T>G (p.Phe162Val) c.1300T>G (p.Phe434Val) n.2431T>G | |
| X | g.22190450dup | CA16621327 | PHEX | c.147dup (p.Thr50TyrfsTer?) n.377dup n.1267dup c.1593dup (p.Thr532TyrfsTer?) c.837dup (p.Thr280TyrfsTer?) c.486dup (p.Thr163TyrfsTer?) c.1302dup (p.Thr435TyrfsTer?) n.2433dup | ClinVar dbSNP |
| X | g.22190450del | CA2693307447 | PHEX | c.147del (p.Phe49LeufsTer?) n.377del n.1267del c.1593del (p.Phe531LeufsTer?) c.837del (p.Phe279LeufsTer?) c.486del (p.Phe162LeufsTer?) c.1302del (p.Phe434LeufsTer?) n.2433del | gnomAD v4 |
| X | g.22190449T>A | CA412575032 | PHEX | c.146T>A (p.Phe49Tyr) n.376T>A n.1266T>A c.1592T>A (p.Phe531Tyr) c.836T>A (p.Phe279Tyr) c.485T>A (p.Phe162Tyr) c.1301T>A (p.Phe434Tyr) n.2432T>A | |
| X | g.22190449T>C | CA412575033 | PHEX | c.146T>C (p.Phe49Ser) n.376T>C n.1266T>C c.1592T>C (p.Phe531Ser) c.836T>C (p.Phe279Ser) c.485T>C (p.Phe162Ser) c.1301T>C (p.Phe434Ser) n.2432T>C | gnomAD v4 |
| X | g.22190449T>G | CA412575034 | PHEX | c.146T>G (p.Phe49Cys) n.376T>G n.1266T>G c.1592T>G (p.Phe531Cys) c.836T>G (p.Phe279Cys) c.485T>G (p.Phe162Cys) c.1301T>G (p.Phe434Cys) n.2432T>G | |
| X | g.22190450T>A | CA412575035 | PHEX | c.147T>A (p.Phe49Leu) n.377T>A n.1267T>A c.1593T>A (p.Phe531Leu) c.837T>A (p.Phe279Leu) c.486T>A (p.Phe162Leu) c.1302T>A (p.Phe434Leu) n.2433T>A | |
| X | g.22190450T>C | CA515431862 | PHEX | c.147T>C (p.Phe49=) n.377T>C n.1267T>C c.1593T>C (p.Phe531=) c.837T>C (p.Phe279=) c.486T>C (p.Phe162=) c.1302T>C (p.Phe434=) n.2433T>C | |
| X | g.22190450T>G | CA412575036 | PHEX | c.147T>G (p.Phe49Leu) n.377T>G n.1267T>G c.1593T>G (p.Phe531Leu) c.837T>G (p.Phe279Leu) c.486T>G (p.Phe162Leu) c.1302T>G (p.Phe434Leu) n.2433T>G | |
| X | g.22190451A>C | CA412575037 | PHEX | c.148A>C (p.Thr50Pro) n.378A>C n.1268A>C c.1594A>C (p.Thr532Pro) c.838A>C (p.Thr280Pro) c.487A>C (p.Thr163Pro) c.1303A>C (p.Thr435Pro) n.2434A>C | |
| X | g.22190451A>G | CA412575039 | PHEX | c.148A>G (p.Thr50Ala) n.378A>G n.1268A>G c.1594A>G (p.Thr532Ala) c.838A>G (p.Thr280Ala) c.487A>G (p.Thr163Ala) c.1303A>G (p.Thr435Ala) n.2434A>G | gnomAD v4 |
| X | g.22190451A>T | CA412575038 | PHEX | c.148A>T (p.Thr50Ser) n.378A>T n.1268A>T c.1594A>T (p.Thr532Ser) c.838A>T (p.Thr280Ser) c.487A>T (p.Thr163Ser) c.1303A>T (p.Thr435Ser) n.2434A>T | |
| X | g.22190452C>A | CA412575040 | PHEX | c.149C>A (p.Thr50Lys) n.379C>A n.1269C>A c.1595C>A (p.Thr532Lys) c.839C>A (p.Thr280Lys) c.488C>A (p.Thr163Lys) c.1304C>A (p.Thr435Lys) n.2435C>A | gnomAD v4 |
| X | g.22190452C= | CA2419199227 | PHEX | c.149C= (p.Thr50=) n.379C= n.1269C= c.1595C= (p.Thr532=) c.839C= (p.Thr280=) c.488C= (p.Thr163=) c.1304C= (p.Thr435=) n.2435C= | |
| X | g.22190452C>G | CA412575041 | PHEX | c.149C>G (p.Thr50Arg) n.379C>G n.1269C>G c.1595C>G (p.Thr532Arg) c.839C>G (p.Thr280Arg) c.488C>G (p.Thr163Arg) c.1304C>G (p.Thr435Arg) n.2435C>G | |
| X | g.22190452C>T | CA10368303 | PHEX | c.149C>T (p.Thr50Ile) n.379C>T n.1269C>T c.1595C>T (p.Thr532Ile) c.839C>T (p.Thr280Ile) c.488C>T (p.Thr163Ile) c.1304C>T (p.Thr435Ile) n.2435C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.22190453A>C | CA515431863 | PHEX | c.150A>C (p.Thr50=) n.380A>C n.1270A>C c.1596A>C (p.Thr532=) c.840A>C (p.Thr280=) c.489A>C (p.Thr163=) c.1305A>C (p.Thr435=) n.2436A>C | |
| X | g.22190453A>G | CA515431864 | PHEX | c.150A>G (p.Thr50=) n.380A>G n.1270A>G c.1596A>G (p.Thr532=) c.840A>G (p.Thr280=) c.489A>G (p.Thr163=) c.1305A>G (p.Thr435=) n.2436A>G | |
| X | g.22190453A>T | CA515431865 | PHEX | c.150A>T (p.Thr50=) n.380A>T n.1270A>T c.1596A>T (p.Thr532=) c.840A>T (p.Thr280=) c.489A>T (p.Thr163=) c.1305A>T (p.Thr435=) n.2436A>T | |
| X | g.22190454A>C | CA412575042 | PHEX | c.151A>C (p.Asn51His) n.381A>C n.1271A>C c.1597A>C (p.Asn533His) c.841A>C (p.Asn281His) c.490A>C (p.Asn164His) c.1306A>C (p.Asn436His) n.2437A>C | |
| X | g.22190454A>G | CA412575043 | PHEX | c.151A>G (p.Asn51Asp) n.381A>G n.1271A>G c.1597A>G (p.Asn533Asp) c.841A>G (p.Asn281Asp) c.490A>G (p.Asn164Asp) c.1306A>G (p.Asn436Asp) n.2437A>G | |
| X | g.22190454A>T | CA412575044 | PHEX | c.151A>T (p.Asn51Tyr) n.381A>T n.1271A>T c.1597A>T (p.Asn533Tyr) c.841A>T (p.Asn281Tyr) c.490A>T (p.Asn164Tyr) c.1306A>T (p.Asn436Tyr) n.2437A>T | |
| X | g.22190455A>C | CA412575045 | PHEX | c.152A>C (p.Asn51Thr) n.382A>C n.1272A>C c.1598A>C (p.Asn533Thr) c.842A>C (p.Asn281Thr) c.491A>C (p.Asn164Thr) c.1307A>C (p.Asn436Thr) n.2438A>C | |
| X | g.22190455A>G | CA412575046 | PHEX | c.152A>G (p.Asn51Ser) n.382A>G n.1272A>G c.1598A>G (p.Asn533Ser) c.842A>G (p.Asn281Ser) c.491A>G (p.Asn164Ser) c.1307A>G (p.Asn436Ser) n.2438A>G | gnomAD v4 |
| X | g.22190455A>T | CA412575047 | PHEX | c.152A>T (p.Asn51Ile) n.382A>T n.1272A>T c.1598A>T (p.Asn533Ile) c.842A>T (p.Asn281Ile) c.491A>T (p.Asn164Ile) c.1307A>T (p.Asn436Ile) n.2438A>T | |
| X | g.22190456T>A | CA412575048 | PHEX | c.153T>A (p.Asn51Lys) n.383T>A n.1273T>A c.1599T>A (p.Asn533Lys) c.843T>A (p.Asn281Lys) c.492T>A (p.Asn164Lys) c.1308T>A (p.Asn436Lys) n.2439T>A | |
| X | g.22190456T>C | CA515431867 | PHEX | c.153T>C (p.Asn51=) n.383T>C n.1273T>C c.1599T>C (p.Asn533=) c.843T>C (p.Asn281=) c.492T>C (p.Asn164=) c.1308T>C (p.Asn436=) n.2439T>C | |
| X | g.22190456T>G | CA412575049 | PHEX | c.153T>G (p.Asn51Lys) n.383T>G n.1273T>G c.1599T>G (p.Asn533Lys) c.843T>G (p.Asn281Lys) c.492T>G (p.Asn164Lys) c.1308T>G (p.Asn436Lys) n.2439T>G | |
| X | g.22190457C>A | CA412575051 | PHEX | c.154C>A (p.Pro52Thr) n.384C>A n.1274C>A c.1600C>A (p.Pro534Thr) c.844C>A (p.Pro282Thr) c.493C>A (p.Pro165Thr) c.1309C>A (p.Pro437Thr) n.2440C>A | ClinVar dbSNP gnomAD v4 |
| X | g.22190457C>G | CA412575052 | PHEX | c.154C>G (p.Pro52Ala) n.384C>G n.1274C>G c.1600C>G (p.Pro534Ala) c.844C>G (p.Pro282Ala) c.493C>G (p.Pro165Ala) c.1309C>G (p.Pro437Ala) n.2440C>G | |
| X | g.22190457C>T | CA412575050 | PHEX | c.154C>T (p.Pro52Ser) n.384C>T n.1274C>T c.1600C>T (p.Pro534Ser) c.844C>T (p.Pro282Ser) c.493C>T (p.Pro165Ser) c.1309C>T (p.Pro437Ser) n.2440C>T | |
| X | g.22190458C>A | CA412575054 | PHEX | c.155C>A (p.Pro52Gln) n.385C>A n.1275C>A c.1601C>A (p.Pro534Gln) c.845C>A (p.Pro282Gln) c.494C>A (p.Pro165Gln) c.1310C>A (p.Pro437Gln) n.2441C>A | gnomAD v4 |
| X | g.22190458C= | CA2419199228 | PHEX | c.155C= (p.Pro52=) n.385C= n.1275C= c.1601C= (p.Pro534=) c.845C= (p.Pro282=) c.494C= (p.Pro165=) c.1310C= (p.Pro437=) n.2441C= | |
| X | g.22190458C>G | CA412575053 | PHEX | c.155C>G (p.Pro52Arg) n.385C>G n.1275C>G c.1601C>G (p.Pro534Arg) c.845C>G (p.Pro282Arg) c.494C>G (p.Pro165Arg) c.1310C>G (p.Pro437Arg) n.2441C>G | |
| X | g.22190458C>T | CA10603575 | PHEX | c.155C>T (p.Pro52Leu) n.385C>T n.1275C>T c.1601C>T (p.Pro534Leu) c.845C>T (p.Pro282Leu) c.494C>T (p.Pro165Leu) c.1310C>T (p.Pro437Leu) n.2441C>T | ClinVar dbSNP gnomAD v4 |
| X | g.22190462_22190464del | CA2579572286 | PHEX | c.159_161del (p.Thr54del) n.389_391del n.1279_1281del c.1605_1607del (p.Thr536del) c.849_851del (p.Thr284del) c.498_500del (p.Thr167del) c.1314_1316del (p.Thr439del) n.2445_2447del | |
| X | g.22190459G>A | CA515431868 | PHEX | c.156G>A (p.Pro52=) n.386G>A n.1276G>A c.1602G>A (p.Pro534=) c.846G>A (p.Pro282=) c.495G>A (p.Pro165=) c.1311G>A (p.Pro437=) n.2442G>A | dbSNP gnomAD v3 gnomAD v4 |