Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.29917426A>T | CA2693367413 | IL1RAPL1 | c.779-38A>T (n.779-38A>T) c.401-38A>T (n.401-38A>T) | gnomAD v4 |
X | g.29917427T>C | CA2421903035 | IL1RAPL1 | c.779-37T>C (n.779-37T>C) c.401-37T>C (n.401-37T>C) | dbSNP |
X | g.29917427T= | CA2421903034 | IL1RAPL1 | c.779-37T= (n.779-37T=) c.401-37T= (n.401-37T=) | |
X | g.29917429G>A | CA2579576842 | IL1RAPL1 | c.779-35G>A (n.779-35G>A) c.401-35G>A (n.401-35G>A) | |
X | g.29917432T>C | CA328286122 | IL1RAPL1 | c.779-32T>C (n.779-32T>C) c.401-32T>C (n.401-32T>C) | dbSNP gnomAD v4 |
X | g.29917432T= | CA2421903036 | IL1RAPL1 | c.779-32T= (n.779-32T=) c.401-32T= (n.401-32T=) | |
X | g.29917433T>C | CA10375485 | IL1RAPL1 | c.779-31T>C (n.779-31T>C) c.401-31T>C (n.401-31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.29917433T= | CA2421903037 | IL1RAPL1 | c.779-31T= (n.779-31T=) c.401-31T= (n.401-31T=) | |
X | g.29917434del | CA2579576843 | IL1RAPL1 | c.779-30del (n.779-30del) c.401-30del (n.401-30del) | |
X | g.29917434A= | CA2421903038 | IL1RAPL1 | c.779-30A= (n.779-30A=) c.401-30A= (n.401-30A=) | |
X | g.29917434A>G | CA2421903039 | IL1RAPL1 | c.779-30A>G (n.779-30A>G) c.401-30A>G (n.401-30A>G) | dbSNP |
X | g.29917434A>T | CA10375486 | IL1RAPL1 | c.779-30A>T (n.779-30A>T) c.401-30A>T (n.401-30A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917435T>C | CA2693367414 | IL1RAPL1 | c.779-29T>C (n.779-29T>C) c.401-29T>C (n.401-29T>C) | gnomAD v4 |
X | g.29917436A= | CA2421903040 | IL1RAPL1 | c.779-28A= (n.779-28A=) c.401-28A= (n.401-28A=) | |
X | g.29917436A>G | CA641153575 | IL1RAPL1 | c.779-28A>G (n.779-28A>G) c.401-28A>G (n.401-28A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.29917437A= | CA2421903041 | IL1RAPL1 | c.779-27A= (n.779-27A=) c.401-27A= (n.401-27A=) | |
X | g.29917437A>G | CA641153577 | IL1RAPL1 | c.779-27A>G (n.779-27A>G) c.401-27A>G (n.401-27A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917440C>A | CA2693367415 | IL1RAPL1 | c.779-24C>A (n.779-24C>A) c.401-24C>A (n.401-24C>A) | gnomAD v4 |
X | g.29917440C= | CA2421903042 | IL1RAPL1 | c.779-24C= (n.779-24C=) c.401-24C= (n.401-24C=) | |
X | g.29917440C>G | CA10375487 | IL1RAPL1 | c.779-24C>G (n.779-24C>G) c.401-24C>G (n.401-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.29917441T>C | CA2501820965 | IL1RAPL1 | c.779-23T>C (n.779-23T>C) c.401-23T>C (n.401-23T>C) | |
X | g.29917443_29917444dup | CA641153581 | IL1RAPL1 | c.779-21_779-20dup (n.779-21_779-20dup) c.401-21_401-20dup (n.401-21_401-20dup) | dbSNP gnomAD v2 gnomAD v4 |
X | g.29917449C= | CA2421903043 | IL1RAPL1 | c.779-15C= (n.779-15C=) c.401-15C= (n.401-15C=) | |
X | g.29917449C>T | CA641153582 | IL1RAPL1 | c.779-15C>T (n.779-15C>T) c.401-15C>T (n.401-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917453T>C | CA10375488 | IL1RAPL1 | c.779-11T>C (n.779-11T>C) c.401-11T>C (n.401-11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.29917453T>G | CA2693367416 | IL1RAPL1 | c.779-11T>G (n.779-11T>G) c.401-11T>G (n.401-11T>G) | gnomAD v4 |
X | g.29917453T= | CA2421903044 | IL1RAPL1 | c.779-11T= (n.779-11T=) c.401-11T= (n.401-11T=) | |
X | g.29917455T>C | CA641153585 | IL1RAPL1 | c.779-9T>C (n.779-9T>C) c.401-9T>C (n.401-9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917455T= | CA2421903045 | IL1RAPL1 | c.779-9T= (n.779-9T=) c.401-9T= (n.401-9T=) | |
X | g.29917456C>A | CA2693367417 | IL1RAPL1 | c.779-8C>A (n.779-8C>A) c.401-8C>A (n.401-8C>A) | gnomAD v4 |
X | g.29917456C= | CA2421903046 | IL1RAPL1 | c.779-8C= (n.779-8C=) c.401-8C= (n.401-8C=) | |
X | g.29917456C>T | CA328286123 | IL1RAPL1 | c.779-8C>T (n.779-8C>T) c.401-8C>T (n.401-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.29917457T>C | CA2693367418 | IL1RAPL1 | c.779-7T>C (n.779-7T>C) c.401-7T>C (n.401-7T>C) | gnomAD v4 |
X | g.29917457T>G | CA2693367419 | IL1RAPL1 | c.779-7T>G (n.779-7T>G) c.401-7T>G (n.401-7T>G) | gnomAD v4 |
X | g.29917458C= | CA2421903047 | IL1RAPL1 | c.779-6C= (n.779-6C=) c.401-6C= (n.401-6C=) | |
X | g.29917458C>G | CA658799630 | IL1RAPL1 | c.779-6C>G (n.779-6C>G) c.401-6C>G (n.401-6C>G) | ClinVar dbSNP |
X | g.29917458C>T | CA641153588 | IL1RAPL1 | c.779-6C>T (n.779-6C>T) c.401-6C>T (n.401-6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917460G>A | CA641153589 | IL1RAPL1 | c.779-4G>A (n.779-4G>A) c.401-4G>A (n.401-4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917460G= | CA2421903048 | IL1RAPL1 | c.779-4G= (n.779-4G=) c.401-4G= (n.401-4G=) | |
X | g.29917462A>C | CA412635727 | IL1RAPL1 | c.779-2A>C (n.779-2A>C) c.401-2A>C (n.401-2A>C) | |
X | g.29917462A>G | CA412635728 | IL1RAPL1 | c.779-2A>G (n.779-2A>G) c.401-2A>G (n.401-2A>G) | gnomAD v4 |
X | g.29917462A>T | CA412635726 | IL1RAPL1 | c.779-2A>T (n.779-2A>T) c.401-2A>T (n.401-2A>T) | |
X | g.29917463G>A | CA412635730 | IL1RAPL1 | c.779-1G>A (n.779-1G>A) c.1G>A (p.Gly1Ser) c.401-1G>A (n.401-1G>A) | |
X | g.29917463G>C | CA412635729 | IL1RAPL1 | c.779-1G>C (n.779-1G>C) c.1G>C (p.Gly1Arg) c.401-1G>C (n.401-1G>C) | |
X | g.29917463G>T | CA412635731 | IL1RAPL1 | c.779-1G>T (n.779-1G>T) c.1G>T (p.Gly1Cys) c.401-1G>T (n.401-1G>T) | |
X | g.29917464G>A | CA412635732 | IL1RAPL1 | c.779G>A (p.Gly260Asp) c.2G>A (p.Gly1Asp) c.401G>A (p.Gly134Asp) | ClinVar dbSNP gnomAD v4 |
X | g.29917464G>C | CA412635733 | IL1RAPL1 | c.779G>C (p.Gly260Ala) c.2G>C (p.Gly1Ala) c.401G>C (p.Gly134Ala) | |
X | g.29917464G= | CA2421903049 | IL1RAPL1 | c.779G= (p.Gly260=) c.2G= (p.Gly1=) c.401G= (p.Gly134=) | |
X | g.29917464G>T | CA412635734 | IL1RAPL1 | c.779G>T (p.Gly260Val) c.2G>T (p.Gly1Val) c.401G>T (p.Gly134Val) | |
X | g.29917465T>A | CA515840599 | IL1RAPL1 | c.780T>A (p.Gly260=) c.3T>A (p.Gly1=) c.402T>A (p.Gly134=) | |
X | g.29917465T>C | CA515840600 | IL1RAPL1 | c.780T>C (p.Gly260=) c.3T>C (p.Gly1=) c.402T>C (p.Gly134=) | |
X | g.29917465T>G | CA515840601 | IL1RAPL1 | c.780T>G (p.Gly260=) c.3T>G (p.Gly1=) c.402T>G (p.Gly134=) | gnomAD v3 gnomAD v4 |
X | g.29917465_29917466insTA | CA2830562680 | IL1RAPL1 | c.780_781insTA (p.Asp261Ter) c.3_4insTA (p.Asp2Ter) c.402_403insTA (p.Asp135Ter) | |
X | g.29917466G>A | CA412635735 | IL1RAPL1 | c.781G>A (p.Asp261Asn) c.4G>A (p.Asp2Asn) c.403G>A (p.Asp135Asn) | |
X | g.29917466G>C | CA412635736 | IL1RAPL1 | c.781G>C (p.Asp261His) c.4G>C (p.Asp2His) c.403G>C (p.Asp135His) | dbSNP |
X | g.29917466G>T | CA412635737 | IL1RAPL1 | c.781G>T (p.Asp261Tyr) c.4G>T (p.Asp2Tyr) c.403G>T (p.Asp135Tyr) | |
X | g.29917467A= | CA2421903050 | IL1RAPL1 | c.782A= (p.Asp261=) c.5A= (p.Asp2=) c.404A= (p.Asp135=) | |
X | g.29917467A>C | CA412635738 | IL1RAPL1 | c.782A>C (p.Asp261Ala) c.5A>C (p.Asp2Ala) c.404A>C (p.Asp135Ala) | |
X | g.29917467A>G | CA412635739 | IL1RAPL1 | c.782A>G (p.Asp261Gly) c.5A>G (p.Asp2Gly) c.404A>G (p.Asp135Gly) | gnomAD v4 |
X | g.29917467A>T | CA412635740 | IL1RAPL1 | c.782A>T (p.Asp261Val) c.5A>T (p.Asp2Val) c.404A>T (p.Asp135Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917468C>A | CA412635741 | IL1RAPL1 | c.783C>A (p.Asp261Glu) c.6C>A (p.Asp2Glu) c.405C>A (p.Asp135Glu) | |
X | g.29917468C>G | CA412635742 | IL1RAPL1 | c.783C>G (p.Asp261Glu) c.6C>G (p.Asp2Glu) c.405C>G (p.Asp135Glu) | |
X | g.29917468C>T | CA515840602 | IL1RAPL1 | c.783C>T (p.Asp261=) c.6C>T (p.Asp2=) c.405C>T (p.Asp135=) | gnomAD v4 |
X | g.29917469T>A | CA412635744 | IL1RAPL1 | c.784T>A (p.Ser262Thr) c.7T>A (p.Ser3Thr) c.406T>A (p.Ser136Thr) | |
X | g.29917469T>C | CA412635743 | IL1RAPL1 | c.784T>C (p.Ser262Pro) c.7T>C (p.Ser3Pro) c.406T>C (p.Ser136Pro) | |
X | g.29917469T>G | CA10375489 | IL1RAPL1 | c.784T>G (p.Ser262Ala) c.7T>G (p.Ser3Ala) c.406T>G (p.Ser136Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.29917469T= | CA2421903051 | IL1RAPL1 | c.784T= (p.Ser262=) c.7T= (p.Ser3=) c.406T= (p.Ser136=) | |
X | g.29917469_29917470insAG | CA2830562681 | IL1RAPL1 | c.784_785insAG (p.Ser262Ter) c.7_8insAG (p.Ser3Ter) c.406_407insAG (p.Ser136Ter) | |
X | g.29917470C>A | CA412635745 | IL1RAPL1 | c.785C>A (p.Ser262Tyr) c.8C>A (p.Ser3Tyr) c.407C>A (p.Ser136Tyr) | |
X | g.29917470C>G | CA412635746 | IL1RAPL1 | c.785C>G (p.Ser262Cys) c.8C>G (p.Ser3Cys) c.407C>G (p.Ser136Cys) | |
X | g.29917470C>T | CA412635747 | IL1RAPL1 | c.785C>T (p.Ser262Phe) c.8C>T (p.Ser3Phe) c.407C>T (p.Ser136Phe) | |
X | g.29917471T>A | CA515840603 | IL1RAPL1 | c.786T>A (p.Ser262=) c.9T>A (p.Ser3=) c.408T>A (p.Ser136=) | |
X | g.29917471T>C | CA515840604 | IL1RAPL1 | c.786T>C (p.Ser262=) c.9T>C (p.Ser3=) c.408T>C (p.Ser136=) | |
X | g.29917471T>G | CA515840605 | IL1RAPL1 | c.786T>G (p.Ser262=) c.9T>G (p.Ser3=) c.408T>G (p.Ser136=) | |
X | g.29917472G>A | CA412635748 | IL1RAPL1 | c.787G>A (p.Ala263Thr) c.10G>A (p.Ala4Thr) c.409G>A (p.Ala137Thr) | |
X | g.29917472G>C | CA412635749 | IL1RAPL1 | c.787G>C (p.Ala263Pro) c.10G>C (p.Ala4Pro) c.409G>C (p.Ala137Pro) | |
X | g.29917472G>T | CA412635750 | IL1RAPL1 | c.787G>T (p.Ala263Ser) c.10G>T (p.Ala4Ser) c.409G>T (p.Ala137Ser) | |
X | g.29917473C>A | CA412635751 | IL1RAPL1 | c.788C>A (p.Ala263Asp) c.11C>A (p.Ala4Asp) c.410C>A (p.Ala137Asp) | |
X | g.29917473C>G | CA412635752 | IL1RAPL1 | c.788C>G (p.Ala263Gly) c.11C>G (p.Ala4Gly) c.410C>G (p.Ala137Gly) | |
X | g.29917473C>T | CA412635753 | IL1RAPL1 | c.788C>T (p.Ala263Val) c.11C>T (p.Ala4Val) c.410C>T (p.Ala137Val) | gnomAD v4 |
X | g.29917473_29917474del | CA2830562682 | IL1RAPL1 | c.788_789del (p.Ala263GlufsTer28) c.11_12del (p.Ala4GlufsTer28) c.410_411del (p.Ala137GlufsTer28) | |
X | g.29917474T>A | CA515840606 | IL1RAPL1 | c.789T>A (p.Ala263=) c.12T>A (p.Ala4=) c.411T>A (p.Ala137=) | |
X | g.29917474T>C | CA515840607 | IL1RAPL1 | c.789T>C (p.Ala263=) c.12T>C (p.Ala4=) c.411T>C (p.Ala137=) | |
X | g.29917474T>G | CA515840608 | IL1RAPL1 | c.789T>G (p.Ala263=) c.12T>G (p.Ala4=) c.411T>G (p.Ala137=) | |
X | g.29917475A>C | CA412635754 | IL1RAPL1 | c.790A>C (p.Asn264His) c.13A>C (p.Asn5His) c.412A>C (p.Asn138His) | |
X | g.29917475A>G | CA412635755 | IL1RAPL1 | c.790A>G (p.Asn264Asp) c.13A>G (p.Asn5Asp) c.412A>G (p.Asn138Asp) | |
X | g.29917475A>T | CA412635756 | IL1RAPL1 | c.790A>T (p.Asn264Tyr) c.13A>T (p.Asn5Tyr) c.412A>T (p.Asn138Tyr) | |
X | g.29917476A>C | CA412635759 | IL1RAPL1 | c.791A>C (p.Asn264Thr) c.14A>C (p.Asn5Thr) c.413A>C (p.Asn138Thr) | |
X | g.29917476A>G | CA412635758 | IL1RAPL1 | c.791A>G (p.Asn264Ser) c.14A>G (p.Asn5Ser) c.413A>G (p.Asn138Ser) | |
X | g.29917476A>T | CA412635757 | IL1RAPL1 | c.791A>T (p.Asn264Ile) c.14A>T (p.Asn5Ile) c.413A>T (p.Asn138Ile) | |
X | g.29917477T>A | CA412635760 | IL1RAPL1 | c.792T>A (p.Asn264Lys) c.15T>A (p.Asn5Lys) c.414T>A (p.Asn138Lys) | |
X | g.29917477T>C | CA515840609 | IL1RAPL1 | c.792T>C (p.Asn264=) c.15T>C (p.Asn5=) c.414T>C (p.Asn138=) | |
X | g.29917477T>G | CA412635761 | IL1RAPL1 | c.792T>G (p.Asn264Lys) c.15T>G (p.Asn5Lys) c.414T>G (p.Asn138Lys) | |
X | g.29917478C>A | CA412635762 | IL1RAPL1 | c.793C>A (p.Leu265Ile) c.16C>A (p.Leu6Ile) c.415C>A (p.Leu139Ile) | |
X | g.29917478C>G | CA412635763 | IL1RAPL1 | c.793C>G (p.Leu265Val) c.16C>G (p.Leu6Val) c.415C>G (p.Leu139Val) | gnomAD v4 |
X | g.29917478C>T | CA515840610 | IL1RAPL1 | c.793C>T (p.Leu265=) c.16C>T (p.Leu6=) c.415C>T (p.Leu139=) | |
X | g.29917479T>A | CA412635764 | IL1RAPL1 | c.794T>A (p.Leu265Gln) c.17T>A (p.Leu6Gln) c.416T>A (p.Leu139Gln) | |
X | g.29917479T>C | CA412635765 | IL1RAPL1 | c.794T>C (p.Leu265Pro) c.17T>C (p.Leu6Pro) c.416T>C (p.Leu139Pro) | |
X | g.29917479T>G | CA412635766 | IL1RAPL1 | c.794T>G (p.Leu265Arg) c.17T>G (p.Leu6Arg) c.416T>G (p.Leu139Arg) | |
X | g.29917479_29917480del | CA2830562683 | IL1RAPL1 | c.794_795del (p.Leu265HisfsTer26) c.17_18del (p.Leu6HisfsTer26) c.416_417del (p.Leu139HisfsTer26) | |
X | g.29917480A>C | CA515840611 | IL1RAPL1 | c.795A>C (p.Leu265=) c.18A>C (p.Leu6=) c.417A>C (p.Leu139=) | |
X | g.29917480A>G | CA515840612 | IL1RAPL1 | c.795A>G (p.Leu265=) c.18A>G (p.Leu6=) c.417A>G (p.Leu139=) | |
X | g.29917480A>T | CA515840613 | IL1RAPL1 | c.795A>T (p.Leu265=) c.18A>T (p.Leu6=) c.417A>T (p.Leu139=) | |
X | g.29917481A>C | CA412635767 | IL1RAPL1 | c.796A>C (p.Thr266Pro) c.19A>C (p.Thr7Pro) c.418A>C (p.Thr140Pro) | |
X | g.29917481A>G | CA412635768 | IL1RAPL1 | c.796A>G (p.Thr266Ala) c.19A>G (p.Thr7Ala) c.418A>G (p.Thr140Ala) | |
X | g.29917481A>T | CA412635769 | IL1RAPL1 | c.796A>T (p.Thr266Ser) c.19A>T (p.Thr7Ser) c.418A>T (p.Thr140Ser) | |
X | g.29917482C>A | CA412635770 | IL1RAPL1 | c.797C>A (p.Thr266Asn) c.20C>A (p.Thr7Asn) c.419C>A (p.Thr140Asn) | |
X | g.29917482C>G | CA412635771 | IL1RAPL1 | c.797C>G (p.Thr266Ser) c.20C>G (p.Thr7Ser) c.419C>G (p.Thr140Ser) | |
X | g.29917482C>T | CA412635772 | IL1RAPL1 | c.797C>T (p.Thr266Ile) c.20C>T (p.Thr7Ile) c.419C>T (p.Thr140Ile) | |
X | g.29917483C>A | CA515840614 | IL1RAPL1 | c.798C>A (p.Thr266=) c.21C>A (p.Thr7=) c.420C>A (p.Thr140=) | gnomAD v4 |
X | g.29917483C>G | CA515840615 | IL1RAPL1 | c.798C>G (p.Thr266=) c.21C>G (p.Thr7=) c.420C>G (p.Thr140=) | |
X | g.29917483C>T | CA515840616 | IL1RAPL1 | c.798C>T (p.Thr266=) c.21C>T (p.Thr7=) c.420C>T (p.Thr140=) | |
X | g.29917484T>A | CA412635775 | IL1RAPL1 | c.799T>A (p.Cys267Ser) c.22T>A (p.Cys8Ser) c.421T>A (p.Cys141Ser) | |
X | g.29917484T>C | CA412635773 | IL1RAPL1 | c.799T>C (p.Cys267Arg) c.22T>C (p.Cys8Arg) c.421T>C (p.Cys141Arg) | |
X | g.29917484T>G | CA412635774 | IL1RAPL1 | c.799T>G (p.Cys267Gly) c.22T>G (p.Cys8Gly) c.421T>G (p.Cys141Gly) | |
X | g.29917485G>A | CA412635776 | IL1RAPL1 | c.800G>A (p.Cys267Tyr) c.23G>A (p.Cys8Tyr) c.422G>A (p.Cys141Tyr) | |
X | g.29917485G>C | CA412635777 | IL1RAPL1 | c.800G>C (p.Cys267Ser) c.23G>C (p.Cys8Ser) c.422G>C (p.Cys141Ser) | |
X | g.29917485G>T | CA412635778 | IL1RAPL1 | c.800G>T (p.Cys267Phe) c.23G>T (p.Cys8Phe) c.422G>T (p.Cys141Phe) | |
X | g.29917486C>A | CA412635779 | IL1RAPL1 | c.801C>A (p.Cys267Ter) c.24C>A (p.Cys8Ter) c.423C>A (p.Cys141Ter) | gnomAD v4 |
X | g.29917486C>G | CA412635780 | IL1RAPL1 | c.801C>G (p.Cys267Trp) c.24C>G (p.Cys8Trp) c.423C>G (p.Cys141Trp) | |
X | g.29917486C>T | CA515840617 | IL1RAPL1 | c.801C>T (p.Cys267=) c.24C>T (p.Cys8=) c.423C>T (p.Cys141=) | |
X | g.29917487A= | CA2421903052 | IL1RAPL1 | c.802A= (p.Arg268=) c.25A= (p.Arg9=) c.424A= (p.Arg142=) | |
X | g.29917487A>C | CA515840618 | IL1RAPL1 | c.802A>C (p.Arg268=) c.25A>C (p.Arg9=) c.424A>C (p.Arg142=) | |
X | g.29917487A>G | CA412635781 | IL1RAPL1 | c.802A>G (p.Arg268Gly) c.25A>G (p.Arg9Gly) c.424A>G (p.Arg142Gly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.29917487A>T | CA412635782 | IL1RAPL1 | c.802A>T (p.Arg268Ter) c.25A>T (p.Arg9Ter) c.424A>T (p.Arg142Ter) | |
X | g.29917488G>A | CA412635783 | IL1RAPL1 | c.803G>A (p.Arg268Lys) c.26G>A (p.Arg9Lys) c.425G>A (p.Arg142Lys) | |
X | g.29917488G>C | CA412635784 | IL1RAPL1 | c.803G>C (p.Arg268Thr) c.26G>C (p.Arg9Thr) c.425G>C (p.Arg142Thr) | |
X | g.29917488G>T | CA412635785 | IL1RAPL1 | c.803G>T (p.Arg268Ile) c.26G>T (p.Arg9Ile) c.425G>T (p.Arg142Ile) | gnomAD v4 |
X | g.29917489A= | CA2421903053 | IL1RAPL1 | c.804A= (p.Arg268=) c.27A= (p.Arg9=) c.426A= (p.Arg142=) | |
X | g.29917489A>C | CA412635786 | IL1RAPL1 | c.804A>C (p.Arg268Ser) c.27A>C (p.Arg9Ser) c.426A>C (p.Arg142Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.29917489A>G | CA515840619 | IL1RAPL1 | c.804A>G (p.Arg268=) c.27A>G (p.Arg9=) c.426A>G (p.Arg142=) | |
X | g.29917489A>T | CA412635787 | IL1RAPL1 | c.804A>T (p.Arg268Ser) c.27A>T (p.Arg9Ser) c.426A>T (p.Arg142Ser) | |
X | g.29917490G>A | CA412635789 | IL1RAPL1 | c.805G>A (p.Ala269Thr) c.28G>A (p.Ala10Thr) c.427G>A (p.Ala143Thr) | |
X | g.29917490G>C | CA412635790 | IL1RAPL1 | c.805G>C (p.Ala269Pro) c.28G>C (p.Ala10Pro) c.427G>C (p.Ala143Pro) | |
X | g.29917490G>T | CA412635788 | IL1RAPL1 | c.805G>T (p.Ala269Ser) c.28G>T (p.Ala10Ser) c.427G>T (p.Ala143Ser) | |
X | g.29917491C>A | CA412635793 | IL1RAPL1 | c.806C>A (p.Ala269Asp) c.29C>A (p.Ala10Asp) c.428C>A (p.Ala143Asp) | |
X | g.29917491C>G | CA412635791 | IL1RAPL1 | c.806C>G (p.Ala269Gly) c.29C>G (p.Ala10Gly) c.428C>G (p.Ala143Gly) | |
X | g.29917491C>T | CA412635792 | IL1RAPL1 | c.806C>T (p.Ala269Val) c.29C>T (p.Ala10Val) c.428C>T (p.Ala143Val) | |
X | g.29917492T>A | CA515840620 | IL1RAPL1 | c.807T>A (p.Ala269=) c.30T>A (p.Ala10=) c.429T>A (p.Ala143=) | |
X | g.29917492T>C | CA515840621 | IL1RAPL1 | c.807T>C (p.Ala269=) c.30T>C (p.Ala10=) c.429T>C (p.Ala143=) | |
X | g.29917492T>G | CA515840622 | IL1RAPL1 | c.807T>G (p.Ala269=) c.30T>G (p.Ala10=) c.429T>G (p.Ala143=) | |
X | g.29917493T>A | CA412635794 | IL1RAPL1 | c.808T>A (p.Phe270Ile) c.31T>A (p.Phe11Ile) c.430T>A (p.Phe144Ile) | |
X | g.29917493T>C | CA412635795 | IL1RAPL1 | c.808T>C (p.Phe270Leu) c.31T>C (p.Phe11Leu) c.430T>C (p.Phe144Leu) | gnomAD v4 |
X | g.29917493T>G | CA412635796 | IL1RAPL1 | c.808T>G (p.Phe270Val) c.31T>G (p.Phe11Val) c.430T>G (p.Phe144Val) | |
X | g.29917494T>A | CA412635797 | IL1RAPL1 | c.809T>A (p.Phe270Tyr) c.32T>A (p.Phe11Tyr) c.431T>A (p.Phe144Tyr) | |
X | g.29917494T>C | CA412635798 | IL1RAPL1 | c.809T>C (p.Phe270Ser) c.32T>C (p.Phe11Ser) c.431T>C (p.Phe144Ser) | |
X | g.29917494T>G | CA412635799 | IL1RAPL1 | c.809T>G (p.Phe270Cys) c.32T>G (p.Phe11Cys) c.431T>G (p.Phe144Cys) | gnomAD v4 |
X | g.29917495C>A | CA412635800 | IL1RAPL1 | c.810C>A (p.Phe270Leu) c.33C>A (p.Phe11Leu) c.432C>A (p.Phe144Leu) | |
X | g.29917495C>G | CA412635801 | IL1RAPL1 | c.810C>G (p.Phe270Leu) c.33C>G (p.Phe11Leu) c.432C>G (p.Phe144Leu) | |
X | g.29917495C>T | CA515840623 | IL1RAPL1 | c.810C>T (p.Phe270=) c.33C>T (p.Phe11=) c.432C>T (p.Phe144=) | gnomAD v4 |
X | g.29917496T>A | CA412635802 | IL1RAPL1 | c.811T>A (p.Phe271Ile) c.34T>A (p.Phe12Ile) c.433T>A (p.Phe145Ile) | |
X | g.29917496T>C | CA412635803 | IL1RAPL1 | c.811T>C (p.Phe271Leu) c.34T>C (p.Phe12Leu) c.433T>C (p.Phe145Leu) | |
X | g.29917496T>G | CA412635804 | IL1RAPL1 | c.811T>G (p.Phe271Val) c.34T>G (p.Phe12Val) c.433T>G (p.Phe145Val) | |
X | g.29917497T>A | CA412635805 | IL1RAPL1 | c.812T>A (p.Phe271Tyr) c.35T>A (p.Phe12Tyr) c.434T>A (p.Phe145Tyr) | |
X | g.29917497T>C | CA412635807 | IL1RAPL1 | c.812T>C (p.Phe271Ser) c.35T>C (p.Phe12Ser) c.434T>C (p.Phe145Ser) | |
X | g.29917497T>G | CA412635806 | IL1RAPL1 | c.812T>G (p.Phe271Cys) c.35T>G (p.Phe12Cys) c.434T>G (p.Phe145Cys) | |
X | g.29917498T>A | CA412635808 | IL1RAPL1 | c.813T>A (p.Phe271Leu) c.36T>A (p.Phe12Leu) c.435T>A (p.Phe145Leu) | |
X | g.29917498T>C | CA515840624 | IL1RAPL1 | c.813T>C (p.Phe271=) c.36T>C (p.Phe12=) c.435T>C (p.Phe145=) | |
X | g.29917498T>G | CA412635809 | IL1RAPL1 | c.813T>G (p.Phe271Leu) c.36T>G (p.Phe12Leu) c.435T>G (p.Phe145Leu) | |
X | g.29917499G>A | CA412635810 | IL1RAPL1 | c.814G>A (p.Gly272Arg) c.37G>A (p.Gly13Arg) c.436G>A (p.Gly146Arg) | |
X | g.29917499G>C | CA412635811 | IL1RAPL1 | c.814G>C (p.Gly272Arg) c.37G>C (p.Gly13Arg) c.436G>C (p.Gly146Arg) | dbSNP |
X | g.29917499G= | CA2421903054 | IL1RAPL1 | c.814G= (p.Gly272=) c.37G= (p.Gly13=) c.436G= (p.Gly146=) | |
X | g.29917499G>T | CA412635812 | IL1RAPL1 | c.814G>T (p.Gly272Trp) c.37G>T (p.Gly13Trp) c.436G>T (p.Gly146Trp) | |
X | g.29917500G>A | CA412635813 | IL1RAPL1 | c.815G>A (p.Gly272Glu) c.38G>A (p.Gly13Glu) c.437G>A (p.Gly146Glu) | |
X | g.29917500G>C | CA412635814 | IL1RAPL1 | c.815G>C (p.Gly272Ala) c.38G>C (p.Gly13Ala) c.437G>C (p.Gly146Ala) | COSMIC COSMIC |
X | g.29917500G>T | CA412635815 | IL1RAPL1 | c.815G>T (p.Gly272Val) c.38G>T (p.Gly13Val) c.437G>T (p.Gly146Val) | |
X | g.29917501G>A | CA328286124 | IL1RAPL1 | c.816G>A (p.Gly272=) c.39G>A (p.Gly13=) c.438G>A (p.Gly146=) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.29917501G>C | CA515840625 | IL1RAPL1 | c.816G>C (p.Gly272=) c.39G>C (p.Gly13=) c.438G>C (p.Gly146=) | |
X | g.29917501G= | CA2421903055 | IL1RAPL1 | c.816G= (p.Gly272=) c.39G= (p.Gly13=) c.438G= (p.Gly146=) | |
X | g.29917501G>T | CA515840626 | IL1RAPL1 | c.816G>T (p.Gly272=) c.39G>T (p.Gly13=) c.438G>T (p.Gly146=) | |
X | g.29917502T>A | CA412635816 | IL1RAPL1 | c.817T>A (p.Tyr273Asn) c.40T>A (p.Tyr14Asn) c.439T>A (p.Tyr147Asn) | |
X | g.29917502T>C | CA412635817 | IL1RAPL1 | c.817T>C (p.Tyr273His) c.40T>C (p.Tyr14His) c.439T>C (p.Tyr147His) | |
X | g.29917502T>G | CA412635818 | IL1RAPL1 | c.817T>G (p.Tyr273Asp) c.40T>G (p.Tyr14Asp) c.439T>G (p.Tyr147Asp) | |
X | g.29917503A>C | CA412635820 | IL1RAPL1 | c.818A>C (p.Tyr273Ser) c.41A>C (p.Tyr14Ser) c.440A>C (p.Tyr147Ser) | |
X | g.29917503A>G | CA412635821 | IL1RAPL1 | c.818A>G (p.Tyr273Cys) c.41A>G (p.Tyr14Cys) c.440A>G (p.Tyr147Cys) | |
X | g.29917503A>T | CA412635819 | IL1RAPL1 | c.818A>T (p.Tyr273Phe) c.41A>T (p.Tyr14Phe) c.440A>T (p.Tyr147Phe) | |
X | g.29917504C>A | CA412635822 | IL1RAPL1 | c.819C>A (p.Tyr273Ter) c.42C>A (p.Tyr14Ter) c.441C>A (p.Tyr147Ter) | |
X | g.29917504C>G | CA412635823 | IL1RAPL1 | c.819C>G (p.Tyr273Ter) c.42C>G (p.Tyr14Ter) c.441C>G (p.Tyr147Ter) | |
X | g.29917504C>T | CA515840627 | IL1RAPL1 | c.819C>T (p.Tyr273=) c.42C>T (p.Tyr14=) c.441C>T (p.Tyr147=) | |
X | g.29917505A>C | CA412635824 | IL1RAPL1 | c.820A>C (p.Ser274Arg) c.43A>C (p.Ser15Arg) c.442A>C (p.Ser148Arg) | |
X | g.29917505A>G | CA412635825 | IL1RAPL1 | c.820A>G (p.Ser274Gly) c.43A>G (p.Ser15Gly) c.442A>G (p.Ser148Gly) | |
X | g.29917505A>T | CA412635826 | IL1RAPL1 | c.820A>T (p.Ser274Cys) c.43A>T (p.Ser15Cys) c.442A>T (p.Ser148Cys) | |
X | g.29917506G>A | CA412635827 | IL1RAPL1 | c.821G>A (p.Ser274Asn) c.44G>A (p.Ser15Asn) c.443G>A (p.Ser148Asn) | |
X | g.29917506G>C | CA412635828 | IL1RAPL1 | c.821G>C (p.Ser274Thr) c.44G>C (p.Ser15Thr) c.443G>C (p.Ser148Thr) | |
X | g.29917506G>T | CA412635829 | IL1RAPL1 | c.821G>T (p.Ser274Ile) c.44G>T (p.Ser15Ile) c.443G>T (p.Ser148Ile) | |
X | g.29917507C>A | CA412635830 | IL1RAPL1 | c.822C>A (p.Ser274Arg) c.45C>A (p.Ser15Arg) c.444C>A (p.Ser148Arg) | |
X | g.29917507C= | CA2421903056 | IL1RAPL1 | c.822C= (p.Ser274=) c.45C= (p.Ser15=) c.444C= (p.Ser148=) | |
X | g.29917507C>G | CA412635831 | IL1RAPL1 | c.822C>G (p.Ser274Arg) c.45C>G (p.Ser15Arg) c.444C>G (p.Ser148Arg) | |
X | g.29917507C>T | CA328286125 | IL1RAPL1 | c.822C>T (p.Ser274=) c.45C>T (p.Ser15=) c.444C>T (p.Ser148=) | dbSNP gnomAD v4 |
X | g.29917508G>A | CA10375490 | IL1RAPL1 | c.823G>A (p.Gly275Arg) c.46G>A (p.Gly16Arg) c.445G>A (p.Gly149Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.29917508G>C | CA412635832 | IL1RAPL1 | c.823G>C (p.Gly275Arg) c.46G>C (p.Gly16Arg) c.445G>C (p.Gly149Arg) | |
X | g.29917508G= | CA2421903057 | IL1RAPL1 | c.823G= (p.Gly275=) c.46G= (p.Gly16=) c.445G= (p.Gly149=) | |
X | g.29917508G>T | CA412635833 | IL1RAPL1 | c.823G>T (p.Gly275Ter) c.46G>T (p.Gly16Ter) c.445G>T (p.Gly149Ter) | COSMIC |
X | g.29917509G>A | CA412635835 | IL1RAPL1 | c.824G>A (p.Gly275Glu) c.47G>A (p.Gly16Glu) c.446G>A (p.Gly149Glu) | |
X | g.29917509G>C | CA412635836 | IL1RAPL1 | c.824G>C (p.Gly275Ala) c.47G>C (p.Gly16Ala) c.446G>C (p.Gly149Ala) | |
X | g.29917509G>T | CA412635834 | IL1RAPL1 | c.824G>T (p.Gly275Val) c.47G>T (p.Gly16Val) c.446G>T (p.Gly149Val) | |
X | g.29917510A= | CA2421903058 | IL1RAPL1 | c.825A= (p.Gly275=) c.48A= (p.Gly16=) c.447A= (p.Gly149=) | |
X | g.29917510A>C | CA10375491 | IL1RAPL1 | c.825A>C (p.Gly275=) c.48A>C (p.Gly16=) c.447A>C (p.Gly149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.29917510A>G | CA515840628 | IL1RAPL1 | c.825A>G (p.Gly275=) c.48A>G (p.Gly16=) c.447A>G (p.Gly149=) | |
X | g.29917510A>T | CA515840629 | IL1RAPL1 | c.825A>T (p.Gly275=) c.48A>T (p.Gly16=) c.447A>T (p.Gly149=) | |
X | g.29917511G>A | CA412635837 | IL1RAPL1 | c.826G>A (p.Asp276Asn) c.49G>A (p.Asp17Asn) c.448G>A (p.Asp150Asn) | gnomAD v4 |
X | g.29917511G>C | CA412635838 | IL1RAPL1 | c.826G>C (p.Asp276His) c.49G>C (p.Asp17His) c.448G>C (p.Asp150His) | |
X | g.29917511G>T | CA412635839 | IL1RAPL1 | c.826G>T (p.Asp276Tyr) c.49G>T (p.Asp17Tyr) c.448G>T (p.Asp150Tyr) | COSMIC COSMIC |
X | g.29917512A>C | CA412635840 | IL1RAPL1 | c.827A>C (p.Asp276Ala) c.50A>C (p.Asp17Ala) c.449A>C (p.Asp150Ala) | |
X | g.29917512A>G | CA412635841 | IL1RAPL1 | c.827A>G (p.Asp276Gly) c.50A>G (p.Asp17Gly) c.449A>G (p.Asp150Gly) | ClinVar dbSNP |
X | g.29917512A>T | CA412635842 | IL1RAPL1 | c.827A>T (p.Asp276Val) c.50A>T (p.Asp17Val) c.449A>T (p.Asp150Val) | |
X | g.29917513T>A | CA412635843 | IL1RAPL1 | c.828T>A (p.Asp276Glu) c.51T>A (p.Asp17Glu) c.450T>A (p.Asp150Glu) | |
X | g.29917513T>C | CA515840630 | IL1RAPL1 | c.828T>C (p.Asp276=) c.51T>C (p.Asp17=) c.450T>C (p.Asp150=) | |
X | g.29917513T>G | CA412635844 | IL1RAPL1 | c.828T>G (p.Asp276Glu) c.51T>G (p.Asp17Glu) c.450T>G (p.Asp150Glu) | |
X | g.29917514G>A | CA412635845 | IL1RAPL1 | c.829G>A (p.Val277Ile) c.52G>A (p.Val18Ile) c.451G>A (p.Val151Ile) | |
X | g.29917514G>C | CA412635846 | IL1RAPL1 | c.829G>C (p.Val277Leu) c.52G>C (p.Val18Leu) c.451G>C (p.Val151Leu) | |
X | g.29917514G>T | CA412635847 | IL1RAPL1 | c.829G>T (p.Val277Phe) c.52G>T (p.Val18Phe) c.451G>T (p.Val151Phe) | |
X | g.29917515T>A | CA412635848 | IL1RAPL1 | c.830T>A (p.Val277Asp) c.53T>A (p.Val18Asp) c.452T>A (p.Val151Asp) | gnomAD v4 |
X | g.29917515T>C | CA412635849 | IL1RAPL1 | c.830T>C (p.Val277Ala) c.53T>C (p.Val18Ala) c.452T>C (p.Val151Ala) | |
X | g.29917515T>G | CA412635850 | IL1RAPL1 | c.830T>G (p.Val277Gly) c.53T>G (p.Val18Gly) c.452T>G (p.Val151Gly) | |
X | g.29917516del | CA2579576844 | IL1RAPL1 | c.831del (p.Ser278ValfsTer3) c.54del (p.Ser19ValfsTer3) c.453del (p.Ser152ValfsTer3) | |
X | g.29917516C>A | CA515840631 | IL1RAPL1 | c.831C>A (p.Val277=) c.54C>A (p.Val18=) c.453C>A (p.Val151=) | |
X | g.29917516C>G | CA515840632 | IL1RAPL1 | c.831C>G (p.Val277=) c.54C>G (p.Val18=) c.453C>G (p.Val151=) | |
X | g.29917516C>T | CA515840633 | IL1RAPL1 | c.831C>T (p.Val277=) c.54C>T (p.Val18=) c.453C>T (p.Val151=) | |
X | g.29917517A= | CA2421903059 | IL1RAPL1 | c.832A= (p.Ser278=) c.55A= (p.Ser19=) c.454A= (p.Ser152=) | |
X | g.29917517A>C | CA412635852 | IL1RAPL1 | c.832A>C (p.Ser278Arg) c.55A>C (p.Ser19Arg) c.454A>C (p.Ser152Arg) | |
X | g.29917517A>G | CA412635853 | IL1RAPL1 | c.832A>G (p.Ser278Gly) c.55A>G (p.Ser19Gly) c.454A>G (p.Ser152Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.29917517A>T | CA412635851 | IL1RAPL1 | c.832A>T (p.Ser278Cys) c.55A>T (p.Ser19Cys) c.454A>T (p.Ser152Cys) | |
X | g.29917518G>A | CA412635855 | IL1RAPL1 | c.833G>A (p.Ser278Asn) c.56G>A (p.Ser19Asn) c.455G>A (p.Ser152Asn) | |
X | g.29917518G>C | CA412635854 | IL1RAPL1 | c.833G>C (p.Ser278Thr) c.56G>C (p.Ser19Thr) c.455G>C (p.Ser152Thr) | |
X | g.29917518G>T | CA412635856 | IL1RAPL1 | c.833G>T (p.Ser278Ile) c.56G>T (p.Ser19Ile) c.455G>T (p.Ser152Ile) | |
X | g.29917519T>A | CA412635857 | IL1RAPL1 | c.834T>A (p.Ser278Arg) c.57T>A (p.Ser19Arg) c.456T>A (p.Ser152Arg) | |
X | g.29917519T>C | CA515840634 | IL1RAPL1 | c.834T>C (p.Ser278=) c.57T>C (p.Ser19=) c.456T>C (p.Ser152=) | gnomAD v4 |
X | g.29917519T>G | CA412635858 | IL1RAPL1 | c.834T>G (p.Ser278Arg) c.57T>G (p.Ser19Arg) c.456T>G (p.Ser152Arg) | |
X | g.29917520C>A | CA412635859 | IL1RAPL1 | c.835C>A (p.Pro279Thr) c.58C>A (p.Pro20Thr) c.457C>A (p.Pro153Thr) | |
X | g.29917520C= | CA2421903060 | IL1RAPL1 | c.835C= (p.Pro279=) c.58C= (p.Pro20=) c.457C= (p.Pro153=) | |
X | g.29917520C>G | CA412635860 | IL1RAPL1 | c.835C>G (p.Pro279Ala) c.58C>G (p.Pro20Ala) c.457C>G (p.Pro153Ala) | dbSNP |
X | g.29917520C>T | CA412635861 | IL1RAPL1 | c.835C>T (p.Pro279Ser) c.58C>T (p.Pro20Ser) c.457C>T (p.Pro153Ser) | COSMIC COSMIC |
X | g.29917521C>A | CA412635862 | IL1RAPL1 | c.836C>A (p.Pro279His) c.59C>A (p.Pro20His) c.458C>A (p.Pro153His) | |
X | g.29917521C>G | CA412635863 | IL1RAPL1 | c.836C>G (p.Pro279Arg) c.59C>G (p.Pro20Arg) c.458C>G (p.Pro153Arg) | |
X | g.29917521C>T | CA412635864 | IL1RAPL1 | c.836C>T (p.Pro279Leu) c.59C>T (p.Pro20Leu) c.458C>T (p.Pro153Leu) | |
X | g.29917522T>A | CA515840637 | IL1RAPL1 | c.837T>A (p.Pro279=) c.60T>A (p.Pro20=) c.459T>A (p.Pro153=) | |
X | g.29917522T>C | CA515840636 | IL1RAPL1 | c.837T>C (p.Pro279=) c.60T>C (p.Pro20=) c.459T>C (p.Pro153=) | |
X | g.29917522T>G | CA515840635 | IL1RAPL1 | c.837T>G (p.Pro279=) c.60T>G (p.Pro20=) c.459T>G (p.Pro153=) | |
X | g.29917523T>A | CA412635865 | IL1RAPL1 | c.838T>A (p.Leu280Ile) c.61T>A (p.Leu21Ile) c.460T>A (p.Leu154Ile) | |
X | g.29917523T>C | CA515840638 | IL1RAPL1 | c.838T>C (p.Leu280=) c.61T>C (p.Leu21=) c.460T>C (p.Leu154=) | |
X | g.29917523T>G | CA412635866 | IL1RAPL1 | c.838T>G (p.Leu280Val) c.61T>G (p.Leu21Val) c.460T>G (p.Leu154Val) | |
X | g.29917524T>A | CA412635867 | IL1RAPL1 | c.839T>A (p.Leu280Ter) c.62T>A (p.Leu21Ter) c.461T>A (p.Leu154Ter) | |
X | g.29917524T>C | CA412635868 | IL1RAPL1 | c.839T>C (p.Leu280Ser) c.62T>C (p.Leu21Ser) c.461T>C (p.Leu154Ser) | |
X | g.29917524T>G | CA412635869 | IL1RAPL1 | c.839T>G (p.Leu280Ter) c.62T>G (p.Leu21Ter) c.461T>G (p.Leu154Ter) | |
X | g.29917525A>C | CA412635870 | IL1RAPL1 | c.840A>C (p.Leu280Phe) c.63A>C (p.Leu21Phe) c.462A>C (p.Leu154Phe) | gnomAD v4 |
X | g.29917525A>G | CA515840639 | IL1RAPL1 | c.840A>G (p.Leu280=) c.63A>G (p.Leu21=) c.462A>G (p.Leu154=) | |
X | g.29917525A>T | CA412635871 | IL1RAPL1 | c.840A>T (p.Leu280Phe) c.63A>T (p.Leu21Phe) c.462A>T (p.Leu154Phe) | |
X | g.29917526A>C | CA412635874 | IL1RAPL1 | c.841A>C (p.Ile281Leu) c.64A>C (p.Ile22Leu) c.463A>C (p.Ile155Leu) | |
X | g.29917526A>G | CA412635873 | IL1RAPL1 | c.841A>G (p.Ile281Val) c.64A>G (p.Ile22Val) c.463A>G (p.Ile155Val) | |
X | g.29917526A>T | CA412635872 | IL1RAPL1 | c.841A>T (p.Ile281Phe) c.64A>T (p.Ile22Phe) c.463A>T (p.Ile155Phe) |