OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22032999C>A | CA2693303912 | PHEX | n.420C>A c.-7C>A (n.-7C>A) n.673C>A | gnomAD v4 |
| X | g.22032999C= | CA2419147525 | PHEX | n.420C= c.-7C= (n.-7C=) n.673C= | |
| X | g.22032999C>T | CA640405515 | PHEX | n.420C>T c.-7C>T (n.-7C>T) n.673C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22033000C>A | CA2693303913 | PHEX | n.421C>A c.-6C>A (n.-6C>A) n.674C>A | gnomAD v4 |
| X | g.22033002del | CA2693303914 | PHEX | n.423del c.-4del (n.-4del) n.676del | gnomAD v4 |
| X | g.22033002T>C | CA2693303915 | PHEX | n.423T>C c.-4T>C (n.-4T>C) n.676T>C | gnomAD v4 |
| X | g.22033003C>A | CA2693303916 | PHEX | n.424C>A c.-3C>A (n.-3C>A) n.677C>A | gnomAD v4 |
| X | g.22033003C>G | CA2693303917 | PHEX | n.424C>G c.-3C>G (n.-3C>G) n.677C>G | gnomAD v4 |
| X | g.22033006A>C | CA412563643 | PHEX | n.427A>C c.1A>C (p.Met1Leu) n.680A>C | |
| X | g.22033006A>G | CA412563644 | PHEX | n.427A>G c.1A>G (p.Met1Val) n.680A>G | |
| X | g.22033006A>T | CA412563639 | PHEX | n.427A>T c.1A>T (p.Met1Leu) n.680A>T | ClinVar |
| X | g.22033007T>A | CA412563648 | PHEX | n.428T>A c.2T>A (p.Met1Lys) n.681T>A | |
| X | g.22033007T>C | CA412563645 | PHEX | n.428T>C c.2T>C (p.Met1Thr) n.681T>C | ClinVar dbSNP gnomAD v4 |
| X | g.22033007T>G | CA412563647 | PHEX | n.428T>G c.2T>G (p.Met1Arg) n.681T>G | |
| X | g.22033008G>A | CA412563652 | PHEX | n.429G>A c.3G>A (p.Met1Ile) n.682G>A | ClinVar dbSNP gnomAD v4 |
| X | g.22033008G>C | CA412563653 | PHEX | n.429G>C c.3G>C (p.Met1Ile) n.682G>C | |
| X | g.22033008G= | CA2419147526 | PHEX | n.429G= c.3G= (p.Met1=) n.682G= | |
| X | g.22033008G>T | CA412563655 | PHEX | n.429G>T c.3G>T (p.Met1Ile) n.682G>T | ClinVar dbSNP |
| X | g.22033009G>A | CA412563660 | PHEX | n.430G>A c.4G>A (p.Glu2Lys) n.683G>A | |
| X | g.22033009G>C | CA412563664 | PHEX | n.430G>C c.4G>C (p.Glu2Gln) n.683G>C | |
| X | g.22033009G>T | CA412563668 | PHEX | n.430G>T c.4G>T (p.Glu2Ter) n.683G>T | COSMIC |
| X | g.22033010A>C | CA412563671 | PHEX | n.431A>C c.5A>C (p.Glu2Ala) n.684A>C | |
| X | g.22033010A>G | CA412563674 | PHEX | n.431A>G c.5A>G (p.Glu2Gly) n.684A>G | |
| X | g.22033010A>T | CA412563676 | PHEX | n.431A>T c.5A>T (p.Glu2Val) n.684A>T | |
| X | g.22033011A= | CA2419147527 | PHEX | n.432A= c.6A= (p.Glu2=) n.685A= | |
| X | g.22033011A>C | CA412563679 | PHEX | n.432A>C c.6A>C (p.Glu2Asp) n.685A>C | |
| X | g.22033011A>G | CA515423784 | PHEX | n.432A>G c.6A>G (p.Glu2=) n.685A>G | |
| X | g.22033011A>T | CA412563682 | PHEX | n.432A>T c.6A>T (p.Glu2Asp) n.685A>T | |
| X | g.22033012G>A | CA412563692 | PHEX | n.433G>A c.7G>A (p.Ala3Thr) n.686G>A | |
| X | g.22033012G>C | CA412563686 | PHEX | n.433G>C c.7G>C (p.Ala3Pro) n.686G>C | COSMIC |
| X | g.22033012G>T | CA412563689 | PHEX | n.433G>T c.7G>T (p.Ala3Ser) n.686G>T | |
| X | g.22033012_22033013dup | CA915950882 | PHEX | n.433_434dup c.7_8dup (p.Glu4GlnfsTer29) n.686_687dup | ClinVar dbSNP |
| X | g.22033013C>A | CA412563697 | PHEX | n.434C>A c.8C>A (p.Ala3Glu) n.687C>A | |
| X | g.22033013C>G | CA412563700 | PHEX | n.434C>G c.8C>G (p.Ala3Gly) n.687C>G | gnomAD v4 |
| X | g.22033013C>T | CA412563703 | PHEX | n.434C>T c.8C>T (p.Ala3Val) n.687C>T | gnomAD v4 |
| X | g.22033014A>C | CA515423790 | PHEX | n.435A>C c.9A>C (p.Ala3=) n.688A>C | |
| X | g.22033014A>G | CA515423791 | PHEX | n.435A>G c.9A>G (p.Ala3=) n.688A>G | |
| X | g.22033014A>T | CA515423792 | PHEX | n.435A>T c.9A>T (p.Ala3=) n.688A>T | |
| X | g.22033015G>A | CA412563704 | PHEX | n.436G>A c.10G>A (p.Glu4Lys) n.689G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.22033015G>C | CA10367951 | PHEX | n.436G>C c.10G>C (p.Glu4Gln) n.689G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22033015G= | CA2419147528 | PHEX | n.436G= c.10G= (p.Glu4=) n.689G= | |
| X | g.22033015G>T | CA412563708 | PHEX | n.436G>T c.10G>T (p.Glu4Ter) n.689G>T | |
| X | g.22033016A>C | CA412563712 | PHEX | n.437A>C c.11A>C (p.Glu4Ala) n.690A>C | |
| X | g.22033016A>G | CA412563713 | PHEX | n.437A>G c.11A>G (p.Glu4Gly) n.690A>G | |
| X | g.22033016A>T | CA412563714 | PHEX | n.437A>T c.11A>T (p.Glu4Val) n.690A>T | |
| X | g.22033017A>C | CA412563715 | PHEX | n.438A>C c.12A>C (p.Glu4Asp) n.691A>C | |
| X | g.22033017A>G | CA515423794 | PHEX | n.438A>G c.12A>G (p.Glu4=) n.691A>G | |
| X | g.22033017A>T | CA412563717 | PHEX | n.438A>T c.12A>T (p.Glu4Asp) n.691A>T | |
| X | g.22033018A= | CA2419147529 | PHEX | n.439A= c.13A= (p.Thr5=) n.692A= | |
| X | g.22033018A>C | CA412563729 | PHEX | n.439A>C c.13A>C (p.Thr5Pro) n.692A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.22033018A>G | CA412563723 | PHEX | n.439A>G c.13A>G (p.Thr5Ala) n.692A>G | |
| X | g.22033018A>T | CA412563720 | PHEX | n.439A>T c.13A>T (p.Thr5Ser) n.692A>T | |
| X | g.22033019C>A | CA412563731 | PHEX | n.440C>A c.14C>A (p.Thr5Lys) n.693C>A | gnomAD v4 |
| X | g.22033019C>G | CA412563733 | PHEX | n.440C>G c.14C>G (p.Thr5Arg) n.693C>G | |
| X | g.22033019C>T | CA412563735 | PHEX | n.440C>T c.14C>T (p.Thr5Ile) n.693C>T | |
| X | g.22033019_22033021delinsCAG | CA2419147530 | PHEX | n.440_442delinsCAG c.14_16delinsCAG (p.Thr5=) n.693_695delinsCAG | |
| X | g.22033020A= | CA2419147531 | PHEX | n.441A= c.15A= (p.Thr5=) n.694A= | |
| X | g.22033020A>C | CA515423801 | PHEX | n.441A>C c.15A>C (p.Thr5=) n.694A>C | |
| X | g.22033020A>G | CA515423799 | PHEX | n.441A>G c.15A>G (p.Thr5=) n.694A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.22033020A>T | CA515423798 | PHEX | n.441A>T c.15A>T (p.Thr5=) n.694A>T | |
| X | g.22033020_22033021del | CA891844192 | PHEX | n.441_442del c.15_16del (p.Gly6GlufsTer?) n.694_695del | ClinVar dbSNP |
| X | g.22033021G>A | CA412563737 | PHEX | n.442G>A c.16G>A (p.Gly6Arg) n.695G>A | |
| X | g.22033021G>C | CA412563740 | PHEX | n.442G>C c.16G>C (p.Gly6Arg) n.695G>C | |
| X | g.22033021G>T | CA412563741 | PHEX | n.442G>T c.16G>T (p.Gly6Trp) n.695G>T | |
| X | g.22033022_22033023del | CA2695232257 | PHEX | n.443_444del c.17_18del (p.Gly6GlufsTer?) n.696_697del | |
| X | g.22033022G>A | CA412563742 | PHEX | n.443G>A c.17G>A (p.Gly6Glu) n.696G>A | |
| X | g.22033022G>C | CA412563743 | PHEX | n.443G>C c.17G>C (p.Gly6Ala) n.696G>C | |
| X | g.22033022G>T | CA412563746 | PHEX | n.443G>T c.17G>T (p.Gly6Val) n.696G>T | |
| X | g.22033023G>A | CA515423803 | PHEX | n.444G>A c.18G>A (p.Gly6=) n.697G>A | |
| X | g.22033023G>C | CA10367952 | PHEX | n.444G>C c.18G>C (p.Gly6=) n.697G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22033023G= | CA2419147532 | PHEX | n.444G= c.18G= (p.Gly6=) n.697G= | |
| X | g.22033023G>T | CA515423804 | PHEX | n.444G>T c.18G>T (p.Gly6=) n.697G>T | |
| X | g.22033024_22033025dup | CA2695232258 | PHEX | n.445_446dup c.19_20dup (p.Ser7ArgfsTer26) n.698_699dup | |
| X | g.22033024A>C | CA412563751 | PHEX | n.445A>C c.19A>C (p.Ser7Arg) n.698A>C | |
| X | g.22033024A>G | CA412563753 | PHEX | n.445A>G c.19A>G (p.Ser7Gly) n.698A>G | gnomAD v4 |
| X | g.22033024A>T | CA412563756 | PHEX | n.445A>T c.19A>T (p.Ser7Cys) n.698A>T | |
| X | g.22033024_22033026delinsAGC | CA2419147533 | PHEX | n.445_447delinsAGC c.19_21delinsAGC (p.Ser7=) n.698_700delinsAGC | |
| X | g.22033025G>A | CA412563762 | PHEX | n.446G>A c.20G>A (p.Ser7Asn) n.699G>A | |
| X | g.22033025G>C | CA412563758 | PHEX | n.446G>C c.20G>C (p.Ser7Thr) n.699G>C | |
| X | g.22033025G>T | CA412563759 | PHEX | n.446G>T c.20G>T (p.Ser7Ile) n.699G>T | |
| X | g.22033025_22033026del | CA915950883 | PHEX | n.446_447del c.20_21del (p.Ser7LysfsTer?) n.699_700del | ClinVar dbSNP |
| X | g.22033025_22033026delinsGC | CA2419147534 | PHEX | n.446_447delinsGC c.20_21delinsGC (p.Ser7=) n.699_700delinsGC | |
| X | g.22033026C>A | CA412563765 | PHEX | n.447C>A c.21C>A (p.Ser7Arg) n.700C>A | |
| X | g.22033026C>G | CA412563769 | PHEX | n.447C>G c.21C>G (p.Ser7Arg) n.700C>G | |
| X | g.22033026C>T | CA515423807 | PHEX | n.447C>T c.21C>T (p.Ser7=) n.700C>T | gnomAD v4 |
| X | g.22033026delinsACTGG | CA1139667270 | PHEX | n.447delinsACTGG c.21delinsACTGG (p.Ser7ArgfsTer?) n.700delinsACTGG | ClinVar dbSNP |
| X | g.22033027A>C | CA412563772 | PHEX | n.448A>C c.22A>C (p.Ser8Arg) n.701A>C | |
| X | g.22033027A>G | CA412563775 | PHEX | n.448A>G c.22A>G (p.Ser8Gly) n.701A>G | |
| X | g.22033027A>T | CA412563778 | PHEX | n.448A>T c.22A>T (p.Ser8Cys) n.701A>T | |
| X | g.22033028G>A | CA412563782 | PHEX | n.449G>A c.23G>A (p.Ser8Asn) n.702G>A | dbSNP |
| X | g.22033028G>C | CA412563783 | PHEX | n.449G>C c.23G>C (p.Ser8Thr) n.702G>C | |
| X | g.22033028G= | CA2419147535 | PHEX | n.449G= c.23G= (p.Ser8=) n.702G= | |
| X | g.22033028G>T | CA412563786 | PHEX | n.449G>T c.23G>T (p.Ser8Ile) n.702G>T | |
| X | g.22033029C>A | CA412563789 | PHEX | n.450C>A c.24C>A (p.Ser8Arg) n.703C>A | |
| X | g.22033029C= | CA2419147536 | PHEX | n.450C= c.24C= (p.Ser8=) n.703C= | |
| X | g.22033029C>G | CA412563790 | PHEX | n.450C>G c.24C>G (p.Ser8Arg) n.703C>G | |
| X | g.22033029C>T | CA327517334 | PHEX | n.450C>T c.24C>T (p.Ser8=) n.703C>T | dbSNP gnomAD v4 COSMIC |
| X | g.22033030G>A | CA412563794 | PHEX | n.451G>A c.25G>A (p.Val9Met) n.704G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22033030G>C | CA412563798 | PHEX | n.451G>C c.25G>C (p.Val9Leu) n.704G>C | gnomAD v4 |
| X | g.22033030G= | CA2419147537 | PHEX | n.451G= c.25G= (p.Val9=) n.704G= | |
| X | g.22033030G>T | CA412563800 | PHEX | n.451G>T c.25G>T (p.Val9Leu) n.704G>T | |
| X | g.22033030_22033037delinsGTGGAGAC | CA2419147538 | PHEX | n.451_458delinsGTGGAGAC c.25_32delinsGTGGAGAC (p.Val9=) n.704_711delinsGTGGAGAC | |
| X | g.22033031T>A | CA412563806 | PHEX | n.452T>A c.26T>A (p.Val9Glu) n.705T>A | |
| X | g.22033031T>C | CA412563808 | PHEX | n.452T>C c.26T>C (p.Val9Ala) n.705T>C | |
| X | g.22033031T>G | CA412563804 | PHEX | n.452T>G c.26T>G (p.Val9Gly) n.705T>G | |
| X | g.22033035_22033041del | CA1139667271 | PHEX | n.456_462del c.30_36del (p.Thr11ArgfsTer19) n.709_715del | ClinVar dbSNP |
| X | g.22033031_22033046delinsTGGAGACTGGAAAGAA | CA2419147539 | PHEX | n.452_467delinsTGGAGACTGGAAAGAA c.26_41delinsTGGAGACTGGAAAGAA (p.Val9=) n.705_720delinsTGGAGACTGGAAAGAA | |
| X | g.22033032G>A | CA515423812 | PHEX | n.453G>A c.27G>A (p.Val9=) n.706G>A | |
| X | g.22033032G>C | CA515423813 | PHEX | n.453G>C c.27G>C (p.Val9=) n.706G>C | |
| X | g.22033032G= | CA2419147540 | PHEX | n.453G= c.27G= (p.Val9=) n.706G= | |
| X | g.22033032G>T | CA515423815 | PHEX | n.453G>T c.27G>T (p.Val9=) n.706G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.22033033del | CA2579571778 | PHEX | n.454del c.28del (p.Glu10ArgfsTer22) n.707del | |
| X | g.22033034_22033048del | CA1131585541 | PHEX | n.455_469del c.29_43del (p.Glu10_Lys14del) n.708_722del | dbSNP gnomAD v3 gnomAD v4 |
| X | g.22033032_22033033insA | CA1139667272 | PHEX | n.453_454insA c.27_28insA (p.Glu10ArgfsTer?) n.706_707insA | ClinVar dbSNP |
| X | g.22033033G>A | CA412563816 | PHEX | n.454G>A c.28G>A (p.Glu10Lys) n.707G>A | |
| X | g.22033033G>C | CA412563813 | PHEX | n.454G>C c.28G>C (p.Glu10Gln) n.707G>C | |
| X | g.22033033G= | CA2419147541 | PHEX | n.454G= c.28G= (p.Glu10=) n.707G= | |
| X | g.22033033G>T | CA412563819 | PHEX | n.454G>T c.28G>T (p.Glu10Ter) n.707G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.22033034A>C | CA412563825 | PHEX | n.455A>C c.29A>C (p.Glu10Ala) n.708A>C | |
| X | g.22033034A>G | CA412563829 | PHEX | n.455A>G c.29A>G (p.Glu10Gly) n.708A>G | |
| X | g.22033034A>T | CA412563832 | PHEX | n.455A>T c.29A>T (p.Glu10Val) n.708A>T | |
| X | g.22033035G>A | CA515423819 | PHEX | n.456G>A c.30G>A (p.Glu10=) n.709G>A | gnomAD v4 |
| X | g.22033035G>C | CA412563835 | PHEX | n.456G>C c.30G>C (p.Glu10Asp) n.709G>C | dbSNP |
| X | g.22033035G= | CA2419147542 | PHEX | n.456G= c.30G= (p.Glu10=) n.709G= | |
| X | g.22033035G>T | CA412563837 | PHEX | n.456G>T c.30G>T (p.Glu10Asp) n.709G>T | |
| X | g.22033036A>C | CA412563840 | PHEX | n.457A>C c.31A>C (p.Thr11Pro) n.710A>C | |
| X | g.22033036A>G | CA412563843 | PHEX | n.457A>G c.31A>G (p.Thr11Ala) n.710A>G | gnomAD v4 |
| X | g.22033036A>T | CA412563848 | PHEX | n.457A>T c.31A>T (p.Thr11Ser) n.710A>T | |
| X | g.22033037C>A | CA412563851 | PHEX | n.458C>A c.32C>A (p.Thr11Asn) n.711C>A | |
| X | g.22033037C>G | CA412563854 | PHEX | n.458C>G c.32C>G (p.Thr11Ser) n.711C>G | |
| X | g.22033037C>T | CA412563858 | PHEX | n.458C>T c.32C>T (p.Thr11Ile) n.711C>T | gnomAD v4 |
| X | g.22033038T>A | CA515423822 | PHEX | n.459T>A c.33T>A (p.Thr11=) n.712T>A | |
| X | g.22033038T>C | CA10605686 | PHEX | n.459T>C c.33T>C (p.Thr11=) n.712T>C | ClinVar dbSNP |
| X | g.22033038T>G | CA515423823 | PHEX | n.459T>G c.33T>G (p.Thr11=) n.712T>G | |
| X | g.22033038T= | CA2419147543 | PHEX | n.459T= c.33T= (p.Thr11=) n.712T= | |
| X | g.22033039G>A | CA412563878 | PHEX | n.460G>A c.34G>A (p.Gly12Arg) n.713G>A | |
| X | g.22033039G>C | CA412563869 | PHEX | n.460G>C c.34G>C (p.Gly12Arg) n.713G>C | |
| X | g.22033039G>T | CA412563872 | PHEX | n.460G>T c.34G>T (p.Gly12Ter) n.713G>T | |
| X | g.22033040del | CA2579571779 | PHEX | n.461del c.35del (p.Gly12GlufsTer20) n.714del | |
| X | g.22033040G>A | CA412563881 | PHEX | n.461G>A c.35G>A (p.Gly12Glu) n.714G>A | |
| X | g.22033040G>C | CA412563889 | PHEX | n.461G>C c.35G>C (p.Gly12Ala) n.714G>C | |
| X | g.22033040G>T | CA412563899 | PHEX | n.461G>T c.35G>T (p.Gly12Val) n.714G>T | |
| X | g.22033041A>C | CA515423824 | PHEX | n.462A>C c.36A>C (p.Gly12=) n.715A>C | |
| X | g.22033041A>G | CA515423826 | PHEX | n.462A>G c.36A>G (p.Gly12=) n.715A>G | |
| X | g.22033041A>T | CA515423825 | PHEX | n.462A>T c.36A>T (p.Gly12=) n.715A>T | |
| X | g.22033042_22033043del | CA2573158443 | PHEX | n.463_464del c.37_38del (p.Lys13GlufsTer?) n.716_717del | ClinVar dbSNP |
| X | g.22033042A= | CA2419147544 | PHEX | n.463A= c.37A= (p.Lys13=) n.716A= | |
| X | g.22033042A>C | CA412563902 | PHEX | n.463A>C c.37A>C (p.Lys13Gln) n.716A>C | |
| X | g.22033042A>G | CA412563906 | PHEX | n.463A>G c.37A>G (p.Lys13Glu) n.716A>G | dbSNP |
| X | g.22033042A>T | CA412563909 | PHEX | n.463A>T c.37A>T (p.Lys13Ter) n.716A>T | |
| X | g.22033043A>C | CA412563916 | PHEX | n.464A>C c.38A>C (p.Lys13Thr) n.717A>C | |
| X | g.22033043A>G | CA412563917 | PHEX | n.464A>G c.38A>G (p.Lys13Arg) n.717A>G | |
| X | g.22033043A>T | CA412563918 | PHEX | n.464A>T c.38A>T (p.Lys13Met) n.717A>T | |
| X | g.22033044G>A | CA515423827 | PHEX | n.465G>A c.39G>A (p.Lys13=) n.718G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.22033044G>C | CA412563920 | PHEX | n.465G>C c.39G>C (p.Lys13Asn) n.718G>C | |
| X | g.22033044G= | CA2419147545 | PHEX | n.465G= c.39G= (p.Lys13=) n.718G= | |
| X | g.22033044G>T | CA412563922 | PHEX | n.465G>T c.39G>T (p.Lys13Asn) n.718G>T | |
| X | g.22033045A>C | CA412563927 | PHEX | n.466A>C c.40A>C (p.Lys14Gln) n.719A>C | gnomAD v4 |
| X | g.22033045A>G | CA412563929 | PHEX | n.466A>G c.40A>G (p.Lys14Glu) n.719A>G | |
| X | g.22033045A>T | CA412563925 | PHEX | n.466A>T c.40A>T (p.Lys14Ter) n.719A>T | |
| X | g.22033046del | CA2579571780 | PHEX | n.467del c.41del (p.Lys14ArgfsTer18) n.720del | |
| X | g.22033046A>C | CA412563934 | PHEX | n.467A>C c.41A>C (p.Lys14Thr) n.720A>C | |
| X | g.22033046A>G | CA412563938 | PHEX | n.467A>G c.41A>G (p.Lys14Arg) n.720A>G | gnomAD v4 |
| X | g.22033046A>T | CA412563940 | PHEX | n.467A>T c.41A>T (p.Lys14Met) n.720A>T | |
| X | g.22033047G>A | CA515423828 | PHEX | n.468G>A c.42G>A (p.Lys14=) n.721G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.22033047G>C | CA412563942 | PHEX | n.468G>C c.42G>C (p.Lys14Asn) n.721G>C | |
| X | g.22033047G= | CA2419147546 | PHEX | n.468G= c.42G= (p.Lys14=) n.721G= | |
| X | g.22033047G>T | CA412563944 | PHEX | n.468G>T c.42G>T (p.Lys14Asn) n.721G>T | |
| X | g.22033048G>A | CA412563949 | PHEX | n.469G>A c.43G>A (p.Ala15Thr) n.722G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.22033048G>C | CA412563946 | PHEX | n.469G>C c.43G>C (p.Ala15Pro) n.722G>C | |
| X | g.22033048G= | CA2419147547 | PHEX | n.469G= c.43G= (p.Ala15=) n.722G= | |
| X | g.22033048G>T | CA412563945 | PHEX | n.469G>T c.43G>T (p.Ala15Ser) n.722G>T | |
| X | g.22033049C>A | CA412563952 | PHEX | n.470C>A c.44C>A (p.Ala15Asp) n.723C>A | |
| X | g.22033049C= | CA2419147548 | PHEX | n.470C= c.44C= (p.Ala15=) n.723C= | |
| X | g.22033049C>G | CA10367953 | PHEX | n.470C>G c.44C>G (p.Ala15Gly) n.723C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.22033049C>T | CA412563956 | PHEX | n.470C>T c.44C>T (p.Ala15Val) n.723C>T | |
| X | g.22033050C>A | CA515423829 | PHEX | n.471C>A c.45C>A (p.Ala15=) n.724C>A | |
| X | g.22033050C>G | CA515423830 | PHEX | n.471C>G c.45C>G (p.Ala15=) n.724C>G | |
| X | g.22033050C>T | CA515423831 | PHEX | n.471C>T c.45C>T (p.Ala15=) n.724C>T | |
| X | g.22033051A>C | CA412563960 | PHEX | n.472A>C c.46A>C (p.Asn16His) n.725A>C | |
| X | g.22033051A>G | CA412563963 | PHEX | n.472A>G c.46A>G (p.Asn16Asp) n.725A>G | |
| X | g.22033051A>T | CA412563966 | PHEX | n.472A>T c.46A>T (p.Asn16Tyr) n.725A>T | |
| X | g.22033052A= | CA2419147549 | PHEX | n.473A= c.47A= (p.Asn16=) n.726A= | |
| X | g.22033052A>C | CA412563969 | PHEX | n.473A>C c.47A>C (p.Asn16Thr) n.726A>C | |
| X | g.22033052A>G | CA10367954 | PHEX | n.473A>G c.47A>G (p.Asn16Ser) n.726A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22033052A>T | CA412563970 | PHEX | n.473A>T c.47A>T (p.Asn16Ile) n.726A>T | |
| X | g.22033053C>A | CA412563972 | PHEX | n.474C>A c.48C>A (p.Asn16Lys) n.727C>A | |
| X | g.22033053C>G | CA412563974 | PHEX | n.474C>G c.48C>G (p.Asn16Lys) n.727C>G | |
| X | g.22033053C>T | CA515423832 | PHEX | n.474C>T c.48C>T (p.Asn16=) n.727C>T | |
| X | g.22033054A= | CA2419147550 | PHEX | n.475A= c.49A= (p.Arg17=) n.728A= | |
| X | g.22033054A>C | CA515423833 | PHEX | n.475A>C c.49A>C (p.Arg17=) n.728A>C | |
| X | g.22033054A>G | CA412563976 | PHEX | n.475A>G c.49A>G (p.Arg17Gly) n.728A>G | |
| X | g.22033054A>T | CA412563977 | PHEX | n.475A>T c.49A>T (p.Arg17Ter) n.728A>T | ClinVar dbSNP |
| X | g.22033056_22033057dup | CA2695232259 | PHEX | n.477_478dup c.51_52dup (p.Gly18GlufsTer15) n.730_731dup | |
| X | g.22033055G>A | CA412563982 | PHEX | n.476G>A c.50G>A (p.Arg17Lys) n.729G>A | |
| X | g.22033055G>C | CA412563984 | PHEX | n.476G>C c.50G>C (p.Arg17Thr) n.729G>C | |
| X | g.22033055G>T | CA412563987 | PHEX | n.476G>T c.50G>T (p.Arg17Ile) n.729G>T | |
| X | g.22033056A>C | CA412563994 | PHEX | n.477A>C c.51A>C (p.Arg17Ser) n.730A>C | |
| X | g.22033056A>G | CA515423834 | PHEX | n.477A>G c.51A>G (p.Arg17=) n.730A>G | |
| X | g.22033056A>T | CA412563997 | PHEX | n.477A>T c.51A>T (p.Arg17Ser) n.730A>T | |
| X | g.22033057G>A | CA412563999 | PHEX | n.478G>A c.52G>A (p.Gly18Ser) n.731G>A | dbSNP |
| X | g.22033057G>C | CA412564001 | PHEX | n.478G>C c.52G>C (p.Gly18Arg) n.731G>C | |
| X | g.22033057G= | CA2419147551 | PHEX | n.478G= c.52G= (p.Gly18=) n.731G= | |
| X | g.22033057G>T | CA412564020 | PHEX | n.478G>T c.52G>T (p.Gly18Cys) n.731G>T | |
| X | g.22033058G>A | CA327517335 | PHEX | n.479G>A c.53G>A (p.Gly18Asp) n.732G>A | dbSNP |
| X | g.22033058G>C | CA412564024 | PHEX | n.479G>C c.53G>C (p.Gly18Ala) n.732G>C | |
| X | g.22033058G= | CA2419147552 | PHEX | n.479G= c.53G= (p.Gly18=) n.732G= | |
| X | g.22033058G>T | CA412564021 | PHEX | n.479G>T c.53G>T (p.Gly18Val) n.732G>T | |
| X | g.22033059C>A | CA515423835 | PHEX | n.480C>A c.54C>A (p.Gly18=) n.733C>A | |
| X | g.22033059C>G | CA515423836 | PHEX | n.480C>G c.54C>G (p.Gly18=) n.733C>G | |
| X | g.22033059C>T | CA515423837 | PHEX | n.480C>T c.54C>T (p.Gly18=) n.733C>T | |
| X | g.22033060A>C | CA412564028 | PHEX | n.481A>C c.55A>C (p.Thr19Pro) n.734A>C | |
| X | g.22033060A>G | CA412564029 | PHEX | n.481A>G c.55A>G (p.Thr19Ala) n.734A>G | |
| X | g.22033060A>T | CA412564030 | PHEX | n.481A>T c.55A>T (p.Thr19Ser) n.734A>T | |
| X | g.22033061C>A | CA327517336 | PHEX | n.482C>A c.56C>A (p.Thr19Asn) n.735C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.22033061C= | CA2419147553 | PHEX | n.482C= c.56C= (p.Thr19=) n.735C= | |
| X | g.22033061C>G | CA412564036 | PHEX | n.482C>G c.56C>G (p.Thr19Ser) n.735C>G | |
| X | g.22033061C>T | CA412564039 | PHEX | n.482C>T c.56C>T (p.Thr19Ile) n.735C>T | |
| X | g.22033062T>A | CA515423840 | PHEX | n.483T>A c.57T>A (p.Thr19=) n.736T>A | |
| X | g.22033062T>C | CA515423838 | PHEX | n.483T>C c.57T>C (p.Thr19=) n.736T>C | |
| X | g.22033062T>G | CA515423839 | PHEX | n.483T>G c.57T>G (p.Thr19=) n.736T>G | |
| X | g.22033063C>A | CA515423841 | PHEX | n.484C>A c.58C>A (p.Arg20=) n.737C>A | gnomAD v4 |
| X | g.22033063C= | CA2419147554 | PHEX | n.484C= c.58C= (p.Arg20=) n.737C= | |
| X | g.22033063C>G | CA10367955 | PHEX | n.484C>G c.58C>G (p.Arg20Gly) n.737C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.22033063C>T | CA16608388 | PHEX | n.484C>T c.58C>T (p.Arg20Ter) n.737C>T | ClinVar dbSNP COSMIC |
| X | g.22033064G>A | CA412564059 | PHEX | n.485G>A c.59G>A (p.Arg20Gln) n.738G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22033064G>C | CA412564078 | PHEX | n.485G>C c.59G>C (p.Arg20Pro) n.738G>C | |
| X | g.22033064G= | CA2419147555 | PHEX | n.485G= c.59G= (p.Arg20=) n.738G= | |
| X | g.22033064G>T | CA412564063 | PHEX | n.485G>T c.59G>T (p.Arg20Leu) n.738G>T | |
| X | g.22033065A>C | CA515423842 | PHEX | n.486A>C c.60A>C (p.Arg20=) n.739A>C | |
| X | g.22033065A>G | CA515423843 | PHEX | n.486A>G c.60A>G (p.Arg20=) n.739A>G | |
| X | g.22033065A>T | CA515423844 | PHEX | n.486A>T c.60A>T (p.Arg20=) n.739A>T | |
| X | g.22033066dup | CA327517337 | PHEX | n.487dup c.61dup (p.Ile21AsnfsTer30) n.740dup | dbSNP |
| X | g.22033066A>C | CA412564086 | PHEX | n.487A>C c.61A>C (p.Ile21Leu) n.740A>C | |
| X | g.22033066A>G | CA412564089 | PHEX | n.487A>G c.61A>G (p.Ile21Val) n.740A>G | |
| X | g.22033066A>T | CA412564090 | PHEX | n.487A>T c.61A>T (p.Ile21Phe) n.740A>T | |
| X | g.22033067T>A | CA412564098 | PHEX | n.488T>A c.62T>A (p.Ile21Asn) n.741T>A | |
| X | g.22033067T>C | CA412564093 | PHEX | n.488T>C c.62T>C (p.Ile21Thr) n.741T>C | |
| X | g.22033067T>G | CA412564095 | PHEX | n.488T>G c.62T>G (p.Ile21Ser) n.741T>G | |
| X | g.22033068T>A | CA515423845 | PHEX | n.489T>A c.63T>A (p.Ile21=) n.742T>A | |
| X | g.22033068T>C | CA515423846 | PHEX | n.489T>C c.63T>C (p.Ile21=) n.742T>C | gnomAD v3 gnomAD v4 |
| X | g.22033068T>G | CA412564101 | PHEX | n.489T>G c.63T>G (p.Ile21Met) n.742T>G | |
| X | g.22033069G>A | CA412564106 | PHEX | n.490G>A c.64G>A (p.Ala22Thr) n.743G>A | |
| X | g.22033069G>C | CA412564107 | PHEX | n.490G>C c.64G>C (p.Ala22Pro) n.743G>C | |
| X | g.22033069G= | CA2419147556 | PHEX | n.490G= c.64G= (p.Ala22=) n.743G= | |
| X | g.22033069G>T | CA10367956 | PHEX | n.490G>T c.64G>T (p.Ala22Ser) n.743G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 | |
| X | g.22033082T>C | CA412564177 | PHEX | n.503T>C c.77T>C (p.Phe26Ser) n.756T>C | |
| X | g.22033082T>G | CA412564174 | PHEX | n.503T>G c.77T>G (p.Phe26Cys) n.756T>G | |
| X | g.22033083T>A | CA412564181 | PHEX | n.504T>A c.78T>A (p.Phe26Leu) n.757T>A | |
| X | g.22033083T>C | CA515423860 | PHEX | n.504T>C c.78T>C (p.Phe26=) n.757T>C | |
| X | g.22033083T>G | CA10367958 | PHEX | n.504T>G c.78T>G (p.Phe26Leu) n.757T>G | dbSNP ExAC gnomAD v2 |
| X | g.22033083T= | CA2419147564 | PHEX | n.504T= c.78T= (p.Phe26=) n.757T= | |
| X | g.22033084G>A | CA412564189 | PHEX | n.505G>A c.79G>A (p.Val27Ile) n.758G>A | |
| X | g.22033084G>C | CA412564192 | PHEX | n.505G>C c.79G>C (p.Val27Leu) n.758G>C | |
| X | g.22033084G>T | CA412564195 | PHEX | n.505G>T c.79G>T (p.Val27Phe) n.758G>T | |
| X | g.22033085T>A | CA412564199 | PHEX | n.506T>A c.80T>A (p.Val27Asp) n.759T>A | |
| X | g.22033085T>C | CA412564202 | PHEX | n.506T>C c.80T>C (p.Val27Ala) n.759T>C | dbSNP |
| X | g.22033085T>G | CA412564205 | PHEX | n.506T>G c.80T>G (p.Val27Gly) n.759T>G | |
| X | g.22033085T= | CA2419147565 | PHEX | n.506T= c.80T= (p.Val27=) n.759T= | |
| X | g.22033086C>A | CA515423861 | PHEX | n.507C>A c.81C>A (p.Val27=) n.760C>A | |
| X | g.22033086C= | CA2419147566 | PHEX | n.507C= c.81C= (p.Val27=) n.760C= | |
| X | g.22033086C>G | CA515423862 | PHEX | n.507C>G c.81C>G (p.Val27=) n.760C>G | dbSNP gnomAD v4 |
| X | g.22033086C>T | CA10367959 | PHEX | n.507C>T c.81C>T (p.Val27=) n.760C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22033086_22033087delinsCG | CA2419147567 | PHEX | n.507_508delinsCG c.81_82delinsCG (p.Val27=) n.760_761delinsCG | |
| X | g.22033087G>A | CA10367960 | PHEX | n.508G>A c.82G>A (p.Gly28Ser) n.761G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.22033087G>C | CA412564213 | PHEX | n.508G>C c.82G>C (p.Gly28Arg) n.761G>C | |
| X | g.22033087G= | CA2419147568 | PHEX | n.508G= c.82G= (p.Gly28=) n.761G= | |
| X | g.22033087G>T | CA412564216 | PHEX | n.508G>T c.82G>T (p.Gly28Cys) n.761G>T | |
| X | g.22033088del | CA1139667274 | PHEX | n.509del c.83del (p.Gly28ValfsTer4) n.762del | ClinVar dbSNP |
| X | g.22033088G>A | CA412564220 | PHEX | n.509G>A c.83G>A (p.Gly28Asp) n.762G>A | |
| X | g.22033088G>C | CA412564224 | PHEX | n.509G>C c.83G>C (p.Gly28Ala) n.762G>C | |
| X | g.22033088G>T | CA412564222 | PHEX | n.509G>T c.83G>T (p.Gly28Val) n.762G>T | |
| X | g.22033089T>A | CA515423863 | PHEX | n.510T>A c.84T>A (p.Gly28=) n.763T>A | |
| X | g.22033089T>C | CA515423864 | PHEX | n.510T>C c.84T>C (p.Gly28=) n.763T>C | |
| X | g.22033089T>G | CA515423865 | PHEX | n.510T>G c.84T>G (p.Gly28=) n.763T>G | |
| X | g.22033090G>A | CA412564228 | PHEX | n.511G>A c.85G>A (p.Gly29Ser) n.764G>A | |
| X | g.22033090G>C | CA412564234 | PHEX | n.511G>C c.85G>C (p.Gly29Arg) n.764G>C | |
| X | g.22033090G>T | CA412564230 | PHEX | n.511G>T c.85G>T (p.Gly29Cys) n.764G>T | |
| X | g.22033091del | CA2579571781 | PHEX | n.512del c.86del (p.Gly29AlafsTer3) n.765del | |
| X | g.22033091G>A | CA412564237 | PHEX | n.512G>A c.86G>A (p.Gly29Asp) n.765G>A | COSMIC |
| X | g.22033091G>C | CA412564242 | PHEX | n.512G>C c.86G>C (p.Gly29Ala) n.765G>C | |
| X | g.22033091G>T | CA412564240 | PHEX | n.512G>T c.86G>T (p.Gly29Val) n.765G>T | |
| X | g.22033092C>A | CA515423866 | PHEX | n.513C>A c.87C>A (p.Gly29=) n.766C>A | |
| X | g.22033092C>G | CA515423867 | PHEX | n.513C>G c.87C>G (p.Gly29=) n.766C>G | |
| X | g.22033092C>T | CA515423868 | PHEX | n.513C>T c.87C>T (p.Gly29=) n.766C>T | |
| X | g.22033093A>C | CA412564245 | PHEX | n.514A>C c.88A>C (p.Thr30Pro) n.767A>C | |
| X | g.22033093A>G | CA412564246 | PHEX | n.514A>G c.88A>G (p.Thr30Ala) n.767A>G | |
| X | g.22033093A>T | CA412564247 | PHEX | n.514A>T c.88A>T (p.Thr30Ser) n.767A>T | |
| X | g.22033094C>A | CA412564249 | PHEX | n.515C>A c.89C>A (p.Thr30Asn) n.768C>A | |
| X | g.22033094C>G | CA412564252 | PHEX | n.515C>G c.89C>G (p.Thr30Ser) n.768C>G | |
| X | g.22033094C>T | CA412564253 | PHEX | n.515C>T c.89C>T (p.Thr30Ile) n.768C>T | gnomAD v4 |
| X | g.22033095C>A | CA515423869 | PHEX | n.516C>A c.90C>A (p.Thr30=) n.769C>A | |
| X | g.22033095C>G | CA515423871 | PHEX | n.516C>G c.90C>G (p.Thr30=) n.769C>G | |
| X | g.22033095C>T | CA515423870 | PHEX | n.516C>T c.90C>T (p.Thr30=) n.769C>T | |
| X | g.22033096C>A | CA412564256 | PHEX | n.517C>A c.91C>A (p.Leu31Ile) n.770C>A | |
| X | g.22033096C= | CA2419147569 | PHEX | n.517C= c.91C= (p.Leu31=) n.770C= | |
| X | g.22033096C>G | CA412564259 | PHEX | n.517C>G c.91C>G (p.Leu31Val) n.770C>G | |
| X | g.22033096C>T | CA515423872 | PHEX | n.517C>T c.91C>T (p.Leu31=) n.770C>T | dbSNP gnomAD v2 |
| X | g.22033097del | CA2579571782 | PHEX | n.518del c.92del (p.Leu31GlnfsTer9) n.771del | |
| X | g.22033097T>A | CA412564263 | PHEX | n.518T>A c.92T>A (p.Leu31Gln) n.771T>A | |
| X | g.22033097T>C | CA412564265 | PHEX | n.518T>C c.92T>C (p.Leu31Pro) n.771T>C | |
| X | g.22033097T>G | CA412564267 | PHEX | n.518T>G c.92T>G (p.Leu31Arg) n.771T>G | |
| X | g.22033098A>C | CA515423873 | PHEX | n.519A>C c.93A>C (p.Leu31=) n.772A>C | |
| X | g.22033098A>G | CA515423874 | PHEX | n.519A>G c.93A>G (p.Leu31=) n.772A>G | |
| X | g.22033098A>T | CA515423875 | PHEX | n.519A>T c.93A>T (p.Leu31=) n.772A>T | |
| X | g.22033099G>A | CA412564269 | PHEX | n.520G>A c.94G>A (p.Val32Ile) n.773G>A | |
| X | g.22033099G>C | CA412564271 | PHEX | n.520G>C c.94G>C (p.Val32Leu) n.773G>C | |
| X | g.22033099G>T | CA412564274 | PHEX | n.520G>T c.94G>T (p.Val32Phe) n.773G>T | |
| X | g.22033099dup | CA2695232261 | PHEX | n.520dup c.94dup (p.Val32GlyfsTer19) n.773dup |