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 |
|---|---|---|---|---|---|
| 1 | g.150750016_150750027del | CA2506971728 | CTSS | c.773_784del (p.Ser258_Leu261del) c.545_556del (p.Ser182_Leu185del) c.500_511del (p.Ser167_Leu170del) c.623_634del (p.Ser208_Leu211del) c.627+1755_627+1766del (n.627+1755_627+1766del) c.596_607del (p.Ser199_Leu202del) c.66_77del n.566+1755_566+1766del c.200_211del (p.Ser67_Leu70del) | |
| 1 | g.150750016G>A | CA420697763 | CTSS | c.783C>T (p.Leu261=) c.555C>T (p.Leu185=) c.510C>T (p.Leu170=) c.633C>T (p.Leu211=) c.627+1765C>T (n.627+1765C>T) c.606C>T (p.Leu202=) c.76C>T n.566+1765C>T c.210C>T (p.Leu70=) | |
| 1 | g.150750016G>C | CA420697764 | CTSS | c.783C>G (p.Leu261=) c.555C>G (p.Leu185=) c.510C>G (p.Leu170=) c.633C>G (p.Leu211=) c.627+1765C>G (n.627+1765C>G) c.606C>G (p.Leu202=) c.76C>G n.566+1765C>G c.210C>G (p.Leu70=) | |
| 1 | g.150750016G>T | CA420697765 | CTSS | c.783C>A (p.Leu261=) c.555C>A (p.Leu185=) c.510C>A (p.Leu170=) c.633C>A (p.Leu211=) c.627+1765C>A (n.627+1765C>A) c.606C>A (p.Leu202=) c.76C>A n.566+1765C>A c.210C>A (p.Leu70=) | |
| 1 | g.150750017A>C | CA342326772 | CTSS | c.782T>G (p.Leu261Arg) c.554T>G (p.Leu185Arg) c.509T>G (p.Leu170Arg) c.632T>G (p.Leu211Arg) c.627+1764T>G (n.627+1764T>G) c.605T>G (p.Leu202Arg) c.75T>G n.566+1764T>G c.209T>G (p.Leu70Arg) | |
| 1 | g.150750017A>G | CA342326775 | CTSS | c.782T>C (p.Leu261Pro) c.554T>C (p.Leu185Pro) c.509T>C (p.Leu170Pro) c.632T>C (p.Leu211Pro) c.627+1764T>C (n.627+1764T>C) c.605T>C (p.Leu202Pro) c.75T>C n.566+1764T>C c.209T>C (p.Leu70Pro) | |
| 1 | g.150750017A>T | CA342326778 | CTSS | c.782T>A (p.Leu261His) c.554T>A (p.Leu185His) c.509T>A (p.Leu170His) c.632T>A (p.Leu211His) c.627+1764T>A (n.627+1764T>A) c.605T>A (p.Leu202His) c.75T>A n.566+1764T>A c.209T>A (p.Leu70His) | |
| 1 | g.150750018G>A | CA342326780 | CTSS | c.781C>T (p.Leu261Phe) c.553C>T (p.Leu185Phe) c.508C>T (p.Leu170Phe) c.631C>T (p.Leu211Phe) c.627+1763C>T (n.627+1763C>T) c.604C>T (p.Leu202Phe) c.74C>T n.566+1763C>T c.208C>T (p.Leu70Phe) | dbSNP gnomAD v4 |
| 1 | g.150750018G>C | CA342326781 | CTSS | c.781C>G (p.Leu261Val) c.553C>G (p.Leu185Val) c.508C>G (p.Leu170Val) c.631C>G (p.Leu211Val) c.627+1763C>G (n.627+1763C>G) c.604C>G (p.Leu202Val) c.74C>G n.566+1763C>G c.208C>G (p.Leu70Val) | |
| 1 | g.150750018G= | CA2479293014 | CTSS | c.781C= (p.Leu261=) c.553C= (p.Leu185=) c.508C= (p.Leu170=) c.631C= (p.Leu211=) c.627+1763C= (n.627+1763C=) c.604C= (p.Leu202=) c.74C= n.566+1763C= c.208C= (p.Leu70=) | |
| 1 | g.150750018G>T | CA342326784 | CTSS | c.781C>A (p.Leu261Ile) c.553C>A (p.Leu185Ile) c.508C>A (p.Leu170Ile) c.631C>A (p.Leu211Ile) c.627+1763C>A (n.627+1763C>A) c.604C>A (p.Leu202Ile) c.74C>A n.566+1763C>A c.208C>A (p.Leu70Ile) | |
| 1 | g.150750019G>A | CA420697766 | CTSS | c.780C>T (p.Phe260=) c.552C>T (p.Phe184=) c.507C>T (p.Phe169=) c.630C>T (p.Phe210=) c.627+1762C>T (n.627+1762C>T) c.603C>T (p.Phe201=) c.73C>T n.566+1762C>T c.207C>T (p.Phe69=) | COSMIC |
| 1 | g.150750019G>C | CA342326790 | CTSS | c.780C>G (p.Phe260Leu) c.552C>G (p.Phe184Leu) c.507C>G (p.Phe169Leu) c.630C>G (p.Phe210Leu) c.627+1762C>G (n.627+1762C>G) c.603C>G (p.Phe201Leu) c.73C>G n.566+1762C>G c.207C>G (p.Phe69Leu) | |
| 1 | g.150750019G>T | CA342326788 | CTSS | c.780C>A (p.Phe260Leu) c.552C>A (p.Phe184Leu) c.507C>A (p.Phe169Leu) c.630C>A (p.Phe210Leu) c.627+1762C>A (n.627+1762C>A) c.603C>A (p.Phe201Leu) c.73C>A n.566+1762C>A c.207C>A (p.Phe69Leu) | gnomAD v4 |
| 1 | g.150750020A>C | CA342326792 | CTSS | c.779T>G (p.Phe260Cys) c.551T>G (p.Phe184Cys) c.506T>G (p.Phe169Cys) c.629T>G (p.Phe210Cys) c.627+1761T>G (n.627+1761T>G) c.602T>G (p.Phe201Cys) c.72T>G n.566+1761T>G c.206T>G (p.Phe69Cys) | |
| 1 | g.150750020A>G | CA342326794 | CTSS | c.779T>C (p.Phe260Ser) c.551T>C (p.Phe184Ser) c.506T>C (p.Phe169Ser) c.629T>C (p.Phe210Ser) c.627+1761T>C (n.627+1761T>C) c.602T>C (p.Phe201Ser) c.72T>C n.566+1761T>C c.206T>C (p.Phe69Ser) | |
| 1 | g.150750020A>T | CA342326796 | CTSS | c.779T>A (p.Phe260Tyr) c.551T>A (p.Phe184Tyr) c.506T>A (p.Phe169Tyr) c.629T>A (p.Phe210Tyr) c.627+1761T>A (n.627+1761T>A) c.602T>A (p.Phe201Tyr) c.72T>A n.566+1761T>A c.206T>A (p.Phe69Tyr) | |
| 1 | g.150750021A= | CA2479293015 | CTSS | c.778T= (p.Phe260=) c.550T= (p.Phe184=) c.505T= (p.Phe169=) c.628T= (p.Phe210=) c.627+1760T= (n.627+1760T=) c.601T= (p.Phe201=) c.71T= n.566+1760T= c.205T= (p.Phe69=) | |
| 1 | g.150750021A>C | CA342326798 | CTSS | c.778T>G (p.Phe260Val) c.550T>G (p.Phe184Val) c.505T>G (p.Phe169Val) c.628T>G (p.Phe210Val) c.627+1760T>G (n.627+1760T>G) c.601T>G (p.Phe201Val) c.71T>G n.566+1760T>G c.205T>G (p.Phe69Val) | dbSNP gnomAD v4 |
| 1 | g.150750021A>G | CA342326801 | CTSS | c.778T>C (p.Phe260Leu) c.550T>C (p.Phe184Leu) c.505T>C (p.Phe169Leu) c.628T>C (p.Phe210Leu) c.627+1760T>C (n.627+1760T>C) c.601T>C (p.Phe201Leu) c.71T>C n.566+1760T>C c.205T>C (p.Phe69Leu) | |
| 1 | g.150750021A>T | CA342326803 | CTSS | c.778T>A (p.Phe260Ile) c.550T>A (p.Phe184Ile) c.505T>A (p.Phe169Ile) c.628T>A (p.Phe210Ile) c.627+1760T>A (n.627+1760T>A) c.601T>A (p.Phe201Ile) c.71T>A n.566+1760T>A c.205T>A (p.Phe69Ile) | |
| 1 | g.150750022G>A | CA420697767 | CTSS | c.777C>T (p.Phe259=) c.549C>T (p.Phe183=) c.504C>T (p.Phe168=) c.627C>T (p.Phe209=) c.627+1759C>T (n.627+1759C>T) c.600C>T (p.Phe200=) c.70C>T n.566+1759C>T c.204C>T (p.Phe68=) | |
| 1 | g.150750022G>C | CA342326808 | CTSS | c.777C>G (p.Phe259Leu) c.549C>G (p.Phe183Leu) c.504C>G (p.Phe168Leu) c.627C>G (p.Phe209Leu) c.627+1759C>G (n.627+1759C>G) c.600C>G (p.Phe200Leu) c.70C>G n.566+1759C>G c.204C>G (p.Phe68Leu) | |
| 1 | g.150750022G>T | CA342326806 | CTSS | c.777C>A (p.Phe259Leu) c.549C>A (p.Phe183Leu) c.504C>A (p.Phe168Leu) c.627C>A (p.Phe209Leu) c.627+1759C>A (n.627+1759C>A) c.600C>A (p.Phe200Leu) c.70C>A n.566+1759C>A c.204C>A (p.Phe68Leu) | |
| 1 | g.150750023A>C | CA342326811 | CTSS | c.776T>G (p.Phe259Cys) c.548T>G (p.Phe183Cys) c.503T>G (p.Phe168Cys) c.626T>G (p.Phe209Cys) c.627+1758T>G (n.627+1758T>G) c.599T>G (p.Phe200Cys) c.69T>G n.566+1758T>G c.203T>G (p.Phe68Cys) | |
| 1 | g.150750023A>G | CA342326814 | CTSS | c.776T>C (p.Phe259Ser) c.548T>C (p.Phe183Ser) c.503T>C (p.Phe168Ser) c.626T>C (p.Phe209Ser) c.627+1758T>C (n.627+1758T>C) c.599T>C (p.Phe200Ser) c.69T>C n.566+1758T>C c.203T>C (p.Phe68Ser) | |
| 1 | g.150750023A>T | CA342326825 | CTSS | c.776T>A (p.Phe259Tyr) c.548T>A (p.Phe183Tyr) c.503T>A (p.Phe168Tyr) c.626T>A (p.Phe209Tyr) c.627+1758T>A (n.627+1758T>A) c.599T>A (p.Phe200Tyr) c.69T>A n.566+1758T>A c.203T>A (p.Phe68Tyr) | |
| 1 | g.150750024A>C | CA342326826 | CTSS | c.775T>G (p.Phe259Val) c.547T>G (p.Phe183Val) c.502T>G (p.Phe168Val) c.625T>G (p.Phe209Val) c.627+1757T>G (n.627+1757T>G) c.598T>G (p.Phe200Val) c.68T>G n.566+1757T>G c.202T>G (p.Phe68Val) | |
| 1 | g.150750024A>G | CA342326827 | CTSS | c.775T>C (p.Phe259Leu) c.547T>C (p.Phe183Leu) c.502T>C (p.Phe168Leu) c.625T>C (p.Phe209Leu) c.627+1757T>C (n.627+1757T>C) c.598T>C (p.Phe200Leu) c.68T>C n.566+1757T>C c.202T>C (p.Phe68Leu) | |
| 1 | g.150750024A>T | CA342326828 | CTSS | c.775T>A (p.Phe259Ile) c.547T>A (p.Phe183Ile) c.502T>A (p.Phe168Ile) c.625T>A (p.Phe209Ile) c.627+1757T>A (n.627+1757T>A) c.598T>A (p.Phe200Ile) c.68T>A n.566+1757T>A c.202T>A (p.Phe68Ile) | |
| 1 | g.150750025A>C | CA420697768 | CTSS | c.774T>G (p.Ser258=) c.546T>G (p.Ser182=) c.501T>G (p.Ser167=) c.624T>G (p.Ser208=) c.627+1756T>G (n.627+1756T>G) c.597T>G (p.Ser199=) c.67T>G n.566+1756T>G c.201T>G (p.Ser67=) | |
| 1 | g.150750025A>G | CA420697769 | CTSS | c.774T>C (p.Ser258=) c.546T>C (p.Ser182=) c.501T>C (p.Ser167=) c.624T>C (p.Ser208=) c.627+1756T>C (n.627+1756T>C) c.597T>C (p.Ser199=) c.67T>C n.566+1756T>C c.201T>C (p.Ser67=) | gnomAD v4 |
| 1 | g.150750025A>T | CA420697770 | CTSS | c.774T>A (p.Ser258=) c.546T>A (p.Ser182=) c.501T>A (p.Ser167=) c.624T>A (p.Ser208=) c.627+1756T>A (n.627+1756T>A) c.597T>A (p.Ser199=) c.67T>A n.566+1756T>A c.201T>A (p.Ser67=) | |
| 1 | g.150750026G>A | CA342326832 | CTSS | c.773C>T (p.Ser258Phe) c.545C>T (p.Ser182Phe) c.500C>T (p.Ser167Phe) c.623C>T (p.Ser208Phe) c.627+1755C>T (n.627+1755C>T) c.596C>T (p.Ser199Phe) c.66C>T n.566+1755C>T c.200C>T (p.Ser67Phe) | |
| 1 | g.150750026G>C | CA342326835 | CTSS | c.773C>G (p.Ser258Cys) c.545C>G (p.Ser182Cys) c.500C>G (p.Ser167Cys) c.623C>G (p.Ser208Cys) c.627+1755C>G (n.627+1755C>G) c.596C>G (p.Ser199Cys) c.66C>G n.566+1755C>G c.200C>G (p.Ser67Cys) | |
| 1 | g.150750026G>T | CA342326834 | CTSS | c.773C>A (p.Ser258Tyr) c.545C>A (p.Ser182Tyr) c.500C>A (p.Ser167Tyr) c.623C>A (p.Ser208Tyr) c.627+1755C>A (n.627+1755C>A) c.596C>A (p.Ser199Tyr) c.66C>A n.566+1755C>A c.200C>A (p.Ser67Tyr) | |
| 1 | g.150750026_150750027insTTTT | CA2538032619 | CTSS | c.772_773insAAAA (p.Ser258Ter) c.544_545insAAAA (p.Ser182Ter) c.499_500insAAAA (p.Ser167Ter) c.622_623insAAAA (p.Ser208Ter) c.627+1754_627+1755insAAAA (n.627+1754_627+1755insAAAA) c.595_596insAAAA (p.Ser199Ter) c.65_66insAAAA n.566+1754_566+1755insAAAA c.199_200insAAAA (p.Ser67Ter) | |
| 1 | g.150750027A>C | CA342326839 | CTSS | c.772T>G (p.Ser258Ala) c.544T>G (p.Ser182Ala) c.499T>G (p.Ser167Ala) c.622T>G (p.Ser208Ala) c.627+1754T>G (n.627+1754T>G) c.595T>G (p.Ser199Ala) c.65T>G n.566+1754T>G c.199T>G (p.Ser67Ala) | |
| 1 | g.150750027A>G | CA342326845 | CTSS | c.772T>C (p.Ser258Pro) c.544T>C (p.Ser182Pro) c.499T>C (p.Ser167Pro) c.622T>C (p.Ser208Pro) c.627+1754T>C (n.627+1754T>C) c.595T>C (p.Ser199Pro) c.65T>C n.566+1754T>C c.199T>C (p.Ser67Pro) | |
| 1 | g.150750027A>T | CA342326843 | CTSS | c.772T>A (p.Ser258Thr) c.544T>A (p.Ser182Thr) c.499T>A (p.Ser167Thr) c.622T>A (p.Ser208Thr) c.627+1754T>A (n.627+1754T>A) c.595T>A (p.Ser199Thr) c.65T>A n.566+1754T>A c.199T>A (p.Ser67Thr) | |
| 1 | g.150750028A= | CA2479293016 | CTSS | c.771T= (p.Pro257=) c.543T= (p.Pro181=) c.498T= (p.Pro166=) c.621T= (p.Pro207=) c.627+1753T= (n.627+1753T=) c.594T= (p.Pro198=) c.64T= n.566+1753T= c.198T= (p.Pro66=) | |
| 1 | g.150750028A>C | CA420697771 | CTSS | c.771T>G (p.Pro257=) c.543T>G (p.Pro181=) c.498T>G (p.Pro166=) c.621T>G (p.Pro207=) c.627+1753T>G (n.627+1753T>G) c.594T>G (p.Pro198=) c.64T>G n.566+1753T>G c.198T>G (p.Pro66=) | |
| 1 | g.150750028A>G | CA1080215 | CTSS | c.771T>C (p.Pro257=) c.543T>C (p.Pro181=) c.498T>C (p.Pro166=) c.621T>C (p.Pro207=) c.627+1753T>C (n.627+1753T>C) c.594T>C (p.Pro198=) c.64T>C n.566+1753T>C c.198T>C (p.Pro66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750028A>T | CA420697772 | CTSS | c.771T>A (p.Pro257=) c.543T>A (p.Pro181=) c.498T>A (p.Pro166=) c.621T>A (p.Pro207=) c.627+1753T>A (n.627+1753T>A) c.594T>A (p.Pro198=) c.64T>A n.566+1753T>A c.198T>A (p.Pro66=) | |
| 1 | g.150750029G>A | CA342326882 | CTSS | c.770C>T (p.Pro257Leu) c.542C>T (p.Pro181Leu) c.497C>T (p.Pro166Leu) c.620C>T (p.Pro207Leu) c.627+1752C>T (n.627+1752C>T) c.593C>T (p.Pro198Leu) c.63C>T n.566+1752C>T c.197C>T (p.Pro66Leu) | COSMIC |
| 1 | g.150750029G>C | CA342326884 | CTSS | c.770C>G (p.Pro257Arg) c.542C>G (p.Pro181Arg) c.497C>G (p.Pro166Arg) c.620C>G (p.Pro207Arg) c.627+1752C>G (n.627+1752C>G) c.593C>G (p.Pro198Arg) c.63C>G n.566+1752C>G c.197C>G (p.Pro66Arg) | |
| 1 | g.150750029G>T | CA342326887 | CTSS | c.770C>A (p.Pro257His) c.542C>A (p.Pro181His) c.497C>A (p.Pro166His) c.620C>A (p.Pro207His) c.627+1752C>A (n.627+1752C>A) c.593C>A (p.Pro198His) c.63C>A n.566+1752C>A c.197C>A (p.Pro66His) | gnomAD v4 |
| 1 | g.150750030G>A | CA342326890 | CTSS | c.769C>T (p.Pro257Ser) c.541C>T (p.Pro181Ser) c.496C>T (p.Pro166Ser) c.619C>T (p.Pro207Ser) c.627+1751C>T (n.627+1751C>T) c.592C>T (p.Pro198Ser) c.62C>T n.566+1751C>T c.196C>T (p.Pro66Ser) | gnomAD v4 |
| 1 | g.150750030G>C | CA342326893 | CTSS | c.769C>G (p.Pro257Ala) c.541C>G (p.Pro181Ala) c.496C>G (p.Pro166Ala) c.619C>G (p.Pro207Ala) c.627+1751C>G (n.627+1751C>G) c.592C>G (p.Pro198Ala) c.62C>G n.566+1751C>G c.196C>G (p.Pro66Ala) | |
| 1 | g.150750030G>T | CA342326896 | CTSS | c.769C>A (p.Pro257Thr) c.541C>A (p.Pro181Thr) c.496C>A (p.Pro166Thr) c.619C>A (p.Pro207Thr) c.627+1751C>A (n.627+1751C>A) c.592C>A (p.Pro198Thr) c.62C>A n.566+1751C>A c.196C>A (p.Pro66Thr) | |
| 1 | g.150750031A>C | CA342326899 | CTSS | c.768T>G (p.His256Gln) c.540T>G (p.His180Gln) c.495T>G (p.His165Gln) c.618T>G (p.His206Gln) c.627+1750T>G (n.627+1750T>G) c.591T>G (p.His197Gln) c.61T>G n.566+1750T>G c.195T>G (p.His65Gln) | |
| 1 | g.150750031A>G | CA420697773 | CTSS | c.768T>C (p.His256=) c.540T>C (p.His180=) c.495T>C (p.His165=) c.618T>C (p.His206=) c.627+1750T>C (n.627+1750T>C) c.591T>C (p.His197=) c.61T>C n.566+1750T>C c.195T>C (p.His65=) | |
| 1 | g.150750031A>T | CA342326919 | CTSS | c.768T>A (p.His256Gln) c.540T>A (p.His180Gln) c.495T>A (p.His165Gln) c.618T>A (p.His206Gln) c.627+1750T>A (n.627+1750T>A) c.591T>A (p.His197Gln) c.61T>A n.566+1750T>A c.195T>A (p.His65Gln) | |
| 1 | g.150750032T>A | CA342326924 | CTSS | c.767A>T (p.His256Leu) c.539A>T (p.His180Leu) c.494A>T (p.His165Leu) c.617A>T (p.His206Leu) c.627+1749A>T (n.627+1749A>T) c.590A>T (p.His197Leu) c.60A>T n.566+1749A>T c.194A>T (p.His65Leu) | |
| 1 | g.150750032T>C | CA342326927 | CTSS | c.767A>G (p.His256Arg) c.539A>G (p.His180Arg) c.494A>G (p.His165Arg) c.617A>G (p.His206Arg) c.627+1749A>G (n.627+1749A>G) c.590A>G (p.His197Arg) c.60A>G n.566+1749A>G c.194A>G (p.His65Arg) | |
| 1 | g.150750032T>G | CA342326933 | CTSS | c.767A>C (p.His256Pro) c.539A>C (p.His180Pro) c.494A>C (p.His165Pro) c.617A>C (p.His206Pro) c.627+1749A>C (n.627+1749A>C) c.590A>C (p.His197Pro) c.60A>C n.566+1749A>C c.194A>C (p.His65Pro) | |
| 1 | g.150750033del | CA2526612999 | CTSS | c.766del (p.His256IlefsTer21) c.538del (p.His180IlefsTer21) c.766del (p.His256IlefsTer20) c.766del (p.His256IlefsTer16) c.493del (p.His165IlefsTer21) c.616del (p.His206IlefsTer21) c.627+1748del (n.627+1748del) c.589del (p.His197IlefsTer21) c.766del (p.His256IlefsTer18) c.59del n.566+1748del c.193del (p.His65IlefsTer20) | gnomAD v4 |
| 1 | g.150750033G>A | CA342326937 | CTSS | c.766C>T (p.His256Tyr) c.538C>T (p.His180Tyr) c.493C>T (p.His165Tyr) c.616C>T (p.His206Tyr) c.627+1748C>T (n.627+1748C>T) c.589C>T (p.His197Tyr) c.59C>T n.566+1748C>T c.193C>T (p.His65Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.150750033G>C | CA342326946 | CTSS | c.766C>G (p.His256Asp) c.538C>G (p.His180Asp) c.493C>G (p.His165Asp) c.616C>G (p.His206Asp) c.627+1748C>G (n.627+1748C>G) c.589C>G (p.His197Asp) c.59C>G n.566+1748C>G c.193C>G (p.His65Asp) | |
| 1 | g.150750033G= | CA2479293017 | CTSS | c.766C= (p.His256=) c.538C= (p.His180=) c.493C= (p.His165=) c.616C= (p.His206=) c.627+1748C= (n.627+1748C=) c.589C= (p.His197=) c.59C= n.566+1748C= c.193C= (p.His65=) | |
| 1 | g.150750033G>T | CA342326944 | CTSS | c.766C>A (p.His256Asn) c.538C>A (p.His180Asn) c.493C>A (p.His165Asn) c.616C>A (p.His206Asn) c.627+1748C>A (n.627+1748C>A) c.589C>A (p.His197Asn) c.59C>A n.566+1748C>A c.193C>A (p.His65Asn) | |
| 1 | g.150750034A>C | CA420697774 | CTSS | c.765T>G (p.Arg255=) c.537T>G (p.Arg179=) c.492T>G (p.Arg164=) c.615T>G (p.Arg205=) c.627+1747T>G (n.627+1747T>G) c.588T>G (p.Arg196=) c.58T>G n.566+1747T>G c.192T>G (p.Arg64=) | |
| 1 | g.150750034A>G | CA420697775 | CTSS | c.765T>C (p.Arg255=) c.537T>C (p.Arg179=) c.492T>C (p.Arg164=) c.615T>C (p.Arg205=) c.627+1747T>C (n.627+1747T>C) c.588T>C (p.Arg196=) c.58T>C n.566+1747T>C c.192T>C (p.Arg64=) | COSMIC |
| 1 | g.150750034A>T | CA420697776 | CTSS | c.765T>A (p.Arg255=) c.537T>A (p.Arg179=) c.492T>A (p.Arg164=) c.615T>A (p.Arg205=) c.627+1747T>A (n.627+1747T>A) c.588T>A (p.Arg196=) c.58T>A n.566+1747T>A c.192T>A (p.Arg64=) | |
| 1 | g.150750035C>A | CA342326947 | CTSS | c.764G>T (p.Arg255Leu) c.536G>T (p.Arg179Leu) c.491G>T (p.Arg164Leu) c.614G>T (p.Arg205Leu) c.627+1746G>T (n.627+1746G>T) c.587G>T (p.Arg196Leu) c.57G>T n.566+1746G>T c.191G>T (p.Arg64Leu) | |
| 1 | g.150750035C= | CA1141607137 | CTSS | c.764G= (p.Arg255=) c.536G= (p.Arg179=) c.491G= (p.Arg164=) c.614G= (p.Arg205=) c.627+1746G= (n.627+1746G=) c.587G= (p.Arg196=) c.57G= n.566+1746G= c.191G= (p.Arg64=) | |
| 1 | g.150750035C>G | CA342326948 | CTSS | c.764G>C (p.Arg255Pro) c.536G>C (p.Arg179Pro) c.491G>C (p.Arg164Pro) c.614G>C (p.Arg205Pro) c.627+1746G>C (n.627+1746G>C) c.587G>C (p.Arg196Pro) c.57G>C n.566+1746G>C c.191G>C (p.Arg64Pro) | |
| 1 | g.150750035C>T | CA1080216 | CTSS | c.764G>A (p.Arg255His) c.536G>A (p.Arg179His) c.491G>A (p.Arg164His) c.614G>A (p.Arg205His) c.627+1746G>A (n.627+1746G>A) c.587G>A (p.Arg196His) c.57G>A n.566+1746G>A c.191G>A (p.Arg64His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750036G>A | CA1080217 | CTSS | c.763C>T (p.Arg255Cys) c.535C>T (p.Arg179Cys) c.490C>T (p.Arg164Cys) c.613C>T (p.Arg205Cys) c.627+1745C>T (n.627+1745C>T) c.586C>T (p.Arg196Cys) c.56C>T n.566+1745C>T c.190C>T (p.Arg64Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750036G>C | CA342326949 | CTSS | c.763C>G (p.Arg255Gly) c.535C>G (p.Arg179Gly) c.490C>G (p.Arg164Gly) c.613C>G (p.Arg205Gly) c.627+1745C>G (n.627+1745C>G) c.586C>G (p.Arg196Gly) c.56C>G n.566+1745C>G c.190C>G (p.Arg64Gly) | |
| 1 | g.150750036G= | CA1148305213 | CTSS | c.763C= (p.Arg255=) c.535C= (p.Arg179=) c.490C= (p.Arg164=) c.613C= (p.Arg205=) c.627+1745C= (n.627+1745C=) c.586C= (p.Arg196=) c.56C= n.566+1745C= c.190C= (p.Arg64=) | |
| 1 | g.150750036G>T | CA342326950 | CTSS | c.763C>A (p.Arg255Ser) c.535C>A (p.Arg179Ser) c.490C>A (p.Arg164Ser) c.613C>A (p.Arg205Ser) c.627+1745C>A (n.627+1745C>A) c.586C>A (p.Arg196Ser) c.56C>A n.566+1745C>A c.190C>A (p.Arg64Ser) | |
| 1 | g.150750037del | CA2517550232 | CTSS | c.762del (p.Arg255ValfsTer22) c.534del (p.Arg179ValfsTer22) c.762del (p.Arg255ValfsTer21) c.762del (p.Arg255ValfsTer17) c.489del (p.Arg164ValfsTer22) c.612del (p.Arg205ValfsTer22) c.627+1744del (n.627+1744del) c.585del (p.Arg196ValfsTer22) c.762del (p.Arg255ValfsTer19) c.55del n.566+1744del c.189del (p.Arg64ValfsTer21) | |
| 1 | g.150750037C>A | CA420697777 | CTSS | c.762G>T (p.Ala254=) c.534G>T (p.Ala178=) c.489G>T (p.Ala163=) c.612G>T (p.Ala204=) c.627+1744G>T (n.627+1744G>T) c.585G>T (p.Ala195=) c.55G>T n.566+1744G>T c.189G>T (p.Ala63=) | |
| 1 | g.150750037C= | CA2479293018 | CTSS | c.762G= (p.Ala254=) c.534G= (p.Ala178=) c.489G= (p.Ala163=) c.612G= (p.Ala204=) c.627+1744G= (n.627+1744G=) c.585G= (p.Ala195=) c.55G= n.566+1744G= c.189G= (p.Ala63=) | |
| 1 | g.150750037C>G | CA420697778 | CTSS | c.762G>C (p.Ala254=) c.534G>C (p.Ala178=) c.489G>C (p.Ala163=) c.612G>C (p.Ala204=) c.627+1744G>C (n.627+1744G>C) c.585G>C (p.Ala195=) c.55G>C n.566+1744G>C c.189G>C (p.Ala63=) | |
| 1 | g.150750037C>T | CA1080218 | CTSS | c.762G>A (p.Ala254=) c.534G>A (p.Ala178=) c.489G>A (p.Ala163=) c.612G>A (p.Ala204=) c.627+1744G>A (n.627+1744G>A) c.585G>A (p.Ala195=) c.55G>A n.566+1744G>A c.189G>A (p.Ala63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750038G>A | CA1080219 | CTSS | c.761C>T (p.Ala254Val) c.533C>T (p.Ala178Val) c.488C>T (p.Ala163Val) c.611C>T (p.Ala204Val) c.627+1743C>T (n.627+1743C>T) c.584C>T (p.Ala195Val) c.54C>T n.566+1743C>T c.188C>T (p.Ala63Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.150750038G>C | CA342326951 | CTSS | c.761C>G (p.Ala254Gly) c.533C>G (p.Ala178Gly) c.488C>G (p.Ala163Gly) c.611C>G (p.Ala204Gly) c.627+1743C>G (n.627+1743C>G) c.584C>G (p.Ala195Gly) c.54C>G n.566+1743C>G c.188C>G (p.Ala63Gly) | |
| 1 | g.150750038G= | CA2479293019 | CTSS | c.761C= (p.Ala254=) c.533C= (p.Ala178=) c.488C= (p.Ala163=) c.611C= (p.Ala204=) c.627+1743C= (n.627+1743C=) c.584C= (p.Ala195=) c.54C= n.566+1743C= c.188C= (p.Ala63=) | |
| 1 | g.150750038G>T | CA342326952 | CTSS | c.761C>A (p.Ala254Glu) c.533C>A (p.Ala178Glu) c.488C>A (p.Ala163Glu) c.611C>A (p.Ala204Glu) c.627+1743C>A (n.627+1743C>A) c.584C>A (p.Ala195Glu) c.54C>A n.566+1743C>A c.188C>A (p.Ala63Glu) | gnomAD v4 |
| 1 | g.150750039C>A | CA342326954 | CTSS | c.760G>T (p.Ala254Ser) c.532G>T (p.Ala178Ser) c.487G>T (p.Ala163Ser) c.610G>T (p.Ala204Ser) c.627+1742G>T (n.627+1742G>T) c.583G>T (p.Ala195Ser) c.53G>T n.566+1742G>T c.187G>T (p.Ala63Ser) | |
| 1 | g.150750039C>G | CA342326955 | CTSS | c.760G>C (p.Ala254Pro) c.532G>C (p.Ala178Pro) c.487G>C (p.Ala163Pro) c.610G>C (p.Ala204Pro) c.627+1742G>C (n.627+1742G>C) c.583G>C (p.Ala195Pro) c.53G>C n.566+1742G>C c.187G>C (p.Ala63Pro) | |
| 1 | g.150750039C>T | CA342326953 | CTSS | c.760G>A (p.Ala254Thr) c.532G>A (p.Ala178Thr) c.487G>A (p.Ala163Thr) c.610G>A (p.Ala204Thr) c.627+1742G>A (n.627+1742G>A) c.583G>A (p.Ala195Thr) c.53G>A n.566+1742G>A c.187G>A (p.Ala63Thr) | COSMIC |
| 1 | g.150750039_150750040insGACCACCGAG | CA2521348837 | CTSS | c.759_760insCTCGGTGGTC (p.Ala254LeufsTer19) c.531_532insCTCGGTGGTC (p.Ala178LeufsTer19) c.759_760insCTCGGTGGTC (p.Ala254LeufsTer15) c.759_760insCTCGGTGGTC (p.Ala254LeufsTer?) c.486_487insCTCGGTGGTC (p.Ala163LeufsTer19) c.609_610insCTCGGTGGTC (p.Ala204LeufsTer19) c.627+1741_627+1742insCTCGGTGGTC (n.627+1741_627+1742insCTCGGTGGTC) c.582_583insCTCGGTGGTC (p.Ala195LeufsTer19) c.759_760insCTCGGTGGTC (p.Ala254LeufsTer16) c.52_53insCTCGGTGGTC n.566+1741_566+1742insCTCGGTGGTC c.186_187insCTCGGTGGTC (p.Ala63LeufsTer15) | |
| 1 | g.150750040A>C | CA342326956 | CTSS | c.759T>G (p.Asp253Glu) c.531T>G (p.Asp177Glu) c.486T>G (p.Asp162Glu) c.609T>G (p.Asp203Glu) c.627+1741T>G (n.627+1741T>G) c.582T>G (p.Asp194Glu) c.52T>G n.566+1741T>G c.186T>G (p.Asp62Glu) | |
| 1 | g.150750040A>G | CA420697779 | CTSS | c.759T>C (p.Asp253=) c.531T>C (p.Asp177=) c.486T>C (p.Asp162=) c.609T>C (p.Asp203=) c.627+1741T>C (n.627+1741T>C) c.582T>C (p.Asp194=) c.52T>C n.566+1741T>C c.186T>C (p.Asp62=) | |
| 1 | g.150750040A>T | CA342326957 | CTSS | c.759T>A (p.Asp253Glu) c.531T>A (p.Asp177Glu) c.486T>A (p.Asp162Glu) c.609T>A (p.Asp203Glu) c.627+1741T>A (n.627+1741T>A) c.582T>A (p.Asp194Glu) c.52T>A n.566+1741T>A c.186T>A (p.Asp62Glu) | |
| 1 | g.150750041T>A | CA342326959 | CTSS | c.758A>T (p.Asp253Val) c.530A>T (p.Asp177Val) c.485A>T (p.Asp162Val) c.608A>T (p.Asp203Val) c.627+1740A>T (n.627+1740A>T) c.581A>T (p.Asp194Val) c.51A>T n.566+1740A>T c.185A>T (p.Asp62Val) | gnomAD v4 |
| 1 | g.150750041T>C | CA342326961 | CTSS | c.758A>G (p.Asp253Gly) c.530A>G (p.Asp177Gly) c.485A>G (p.Asp162Gly) c.608A>G (p.Asp203Gly) c.627+1740A>G (n.627+1740A>G) c.581A>G (p.Asp194Gly) c.51A>G n.566+1740A>G c.185A>G (p.Asp62Gly) | |
| 1 | g.150750041T>G | CA342326964 | CTSS | c.758A>C (p.Asp253Ala) c.530A>C (p.Asp177Ala) c.485A>C (p.Asp162Ala) c.608A>C (p.Asp203Ala) c.627+1740A>C (n.627+1740A>C) c.581A>C (p.Asp194Ala) c.51A>C n.566+1740A>C c.185A>C (p.Asp62Ala) | |
| 1 | g.150750042C>A | CA342326977 | CTSS | c.757G>T (p.Asp253Tyr) c.529G>T (p.Asp177Tyr) c.484G>T (p.Asp162Tyr) c.607G>T (p.Asp203Tyr) c.627+1739G>T (n.627+1739G>T) c.580G>T (p.Asp194Tyr) c.50G>T n.566+1739G>T c.184G>T (p.Asp62Tyr) | |
| 1 | g.150750042C>G | CA342326972 | CTSS | c.757G>C (p.Asp253His) c.529G>C (p.Asp177His) c.484G>C (p.Asp162His) c.607G>C (p.Asp203His) c.627+1739G>C (n.627+1739G>C) c.580G>C (p.Asp194His) c.50G>C n.566+1739G>C c.184G>C (p.Asp62His) | |
| 1 | g.150750042C>T | CA342326969 | CTSS | c.757G>A (p.Asp253Asn) c.529G>A (p.Asp177Asn) c.484G>A (p.Asp162Asn) c.607G>A (p.Asp203Asn) c.627+1739G>A (n.627+1739G>A) c.580G>A (p.Asp194Asn) c.50G>A n.566+1739G>A c.184G>A (p.Asp62Asn) | |
| 1 | g.150750043T>A | CA420697780 | CTSS | c.756A>T (p.Val252=) c.528A>T (p.Val176=) c.483A>T (p.Val161=) c.606A>T (p.Val202=) c.627+1738A>T (n.627+1738A>T) c.579A>T (p.Val193=) c.49A>T n.566+1738A>T c.183A>T (p.Val61=) | |
| 1 | g.150750043T>C | CA420697781 | CTSS | c.756A>G (p.Val252=) c.528A>G (p.Val176=) c.483A>G (p.Val161=) c.606A>G (p.Val202=) c.627+1738A>G (n.627+1738A>G) c.579A>G (p.Val193=) c.49A>G n.566+1738A>G c.183A>G (p.Val61=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750043T>G | CA420697782 | CTSS | c.756A>C (p.Val252=) c.528A>C (p.Val176=) c.483A>C (p.Val161=) c.606A>C (p.Val202=) c.627+1738A>C (n.627+1738A>C) c.579A>C (p.Val193=) c.49A>C n.566+1738A>C c.183A>C (p.Val61=) | |
| 1 | g.150750043T= | CA2479293020 | CTSS | c.756A= (p.Val252=) c.528A= (p.Val176=) c.483A= (p.Val161=) c.606A= (p.Val202=) c.627+1738A= (n.627+1738A=) c.579A= (p.Val193=) c.49A= n.566+1738A= c.183A= (p.Val61=) | |
| 1 | g.150750044A= | CA2479293021 | CTSS | c.755T= (p.Val252=) c.527T= (p.Val176=) c.482T= (p.Val161=) c.605T= (p.Val202=) c.627+1737T= (n.627+1737T=) c.578T= (p.Val193=) c.48T= n.566+1737T= c.182T= (p.Val61=) | |
| 1 | g.150750044A>C | CA342326980 | CTSS | c.755T>G (p.Val252Gly) c.527T>G (p.Val176Gly) c.482T>G (p.Val161Gly) c.605T>G (p.Val202Gly) c.627+1737T>G (n.627+1737T>G) c.578T>G (p.Val193Gly) c.48T>G n.566+1737T>G c.182T>G (p.Val61Gly) | |
| 1 | g.150750044A>G | CA342326983 | CTSS | c.755T>C (p.Val252Ala) c.527T>C (p.Val176Ala) c.482T>C (p.Val161Ala) c.605T>C (p.Val202Ala) c.627+1737T>C (n.627+1737T>C) c.578T>C (p.Val193Ala) c.48T>C n.566+1737T>C c.182T>C (p.Val61Ala) | dbSNP |
| 1 | g.150750044A>T | CA342326986 | CTSS | c.755T>A (p.Val252Glu) c.527T>A (p.Val176Glu) c.482T>A (p.Val161Glu) c.605T>A (p.Val202Glu) c.627+1737T>A (n.627+1737T>A) c.578T>A (p.Val193Glu) c.48T>A n.566+1737T>A c.182T>A (p.Val61Glu) | |
| 1 | g.150750045C>A | CA342326990 | CTSS | c.754G>T (p.Val252Leu) c.526G>T (p.Val176Leu) c.481G>T (p.Val161Leu) c.604G>T (p.Val202Leu) c.627+1736G>T (n.627+1736G>T) c.577G>T (p.Val193Leu) c.47G>T n.566+1736G>T c.181G>T (p.Val61Leu) | |
| 1 | g.150750045C>G | CA342326993 | CTSS | c.754G>C (p.Val252Leu) c.526G>C (p.Val176Leu) c.481G>C (p.Val161Leu) c.604G>C (p.Val202Leu) c.627+1736G>C (n.627+1736G>C) c.577G>C (p.Val193Leu) c.47G>C n.566+1736G>C c.181G>C (p.Val61Leu) | |
| 1 | g.150750045C>T | CA342326997 | CTSS | c.754G>A (p.Val252Ile) c.526G>A (p.Val176Ile) c.481G>A (p.Val161Ile) c.604G>A (p.Val202Ile) c.627+1736G>A (n.627+1736G>A) c.577G>A (p.Val193Ile) c.47G>A n.566+1736G>A c.181G>A (p.Val61Ile) | gnomAD v4 |
| 1 | g.150750046A= | CA2479293023 | CTSS | c.753T= (p.Gly251=) c.525T= (p.Gly175=) c.480T= (p.Gly160=) c.603T= (p.Gly201=) c.627+1735T= (n.627+1735T=) c.576T= (p.Gly192=) c.46T= n.566+1735T= c.180T= (p.Gly60=) | |
| 1 | g.150750046A>C | CA420697783 | CTSS | c.753T>G (p.Gly251=) c.525T>G (p.Gly175=) c.480T>G (p.Gly160=) c.603T>G (p.Gly201=) c.627+1735T>G (n.627+1735T>G) c.576T>G (p.Gly192=) c.46T>G n.566+1735T>G c.180T>G (p.Gly60=) | |
| 1 | g.150750046A>G | CA420697785 | CTSS | c.753T>C (p.Gly251=) c.525T>C (p.Gly175=) c.480T>C (p.Gly160=) c.603T>C (p.Gly201=) c.627+1735T>C (n.627+1735T>C) c.576T>C (p.Gly192=) c.46T>C n.566+1735T>C c.180T>C (p.Gly60=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750046A>T | CA420697784 | CTSS | c.753T>A (p.Gly251=) c.525T>A (p.Gly175=) c.480T>A (p.Gly160=) c.603T>A (p.Gly201=) c.627+1735T>A (n.627+1735T>A) c.576T>A (p.Gly192=) c.46T>A n.566+1735T>A c.180T>A (p.Gly60=) | |
| 1 | g.150750046_150750047delinsAC | CA2479293022 | CTSS | c.752_753delinsGT (p.Gly251=) c.524_525delinsGT (p.Gly175=) c.479_480delinsGT (p.Gly160=) c.602_603delinsGT (p.Gly201=) c.627+1734_627+1735delinsGT (n.627+1734_627+1735delinsGT) c.575_576delinsGT (p.Gly192=) c.45_46delinsGT n.566+1734_566+1735delinsGT c.179_180delinsGT (p.Gly60=) | |
| 1 | g.150750047C>A | CA342327002 | CTSS | c.752G>T (p.Gly251Val) c.524G>T (p.Gly175Val) c.479G>T (p.Gly160Val) c.602G>T (p.Gly201Val) c.627+1734G>T (n.627+1734G>T) c.575G>T (p.Gly192Val) c.45G>T n.566+1734G>T c.179G>T (p.Gly60Val) | |
| 1 | g.150750047C>G | CA342327007 | CTSS | c.752G>C (p.Gly251Ala) c.524G>C (p.Gly175Ala) c.479G>C (p.Gly160Ala) c.602G>C (p.Gly201Ala) c.627+1734G>C (n.627+1734G>C) c.575G>C (p.Gly192Ala) c.45G>C n.566+1734G>C c.179G>C (p.Gly60Ala) | gnomAD v4 |
| 1 | g.150750047C>T | CA342327005 | CTSS | c.752G>A (p.Gly251Asp) c.524G>A (p.Gly175Asp) c.479G>A (p.Gly160Asp) c.602G>A (p.Gly201Asp) c.627+1734G>A (n.627+1734G>A) c.575G>A (p.Gly192Asp) c.45G>A n.566+1734G>A c.179G>A (p.Gly60Asp) | gnomAD v4 |
| 1 | g.150750048del | CA526261188 | CTSS | c.752del (p.Gly251ValfsTer2) c.524del (p.Gly175ValfsTer2) c.479del (p.Gly160ValfsTer2) c.602del (p.Gly201ValfsTer2) c.627+1734del (n.627+1734del) c.575del (p.Gly192ValfsTer2) c.45del n.566+1734del c.179del (p.Gly60ValfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750048C>A | CA342327014 | CTSS | c.751G>T (p.Gly251Cys) c.523G>T (p.Gly175Cys) c.478G>T (p.Gly160Cys) c.601G>T (p.Gly201Cys) c.627+1733G>T (n.627+1733G>T) c.574G>T (p.Gly192Cys) c.44G>T n.566+1733G>T c.178G>T (p.Gly60Cys) | |
| 1 | g.150750048C>G | CA342327017 | CTSS | c.751G>C (p.Gly251Arg) c.523G>C (p.Gly175Arg) c.478G>C (p.Gly160Arg) c.601G>C (p.Gly201Arg) c.627+1733G>C (n.627+1733G>C) c.574G>C (p.Gly192Arg) c.44G>C n.566+1733G>C c.178G>C (p.Gly60Arg) | |
| 1 | g.150750048C>T | CA342327020 | CTSS | c.751G>A (p.Gly251Ser) c.523G>A (p.Gly175Ser) c.478G>A (p.Gly160Ser) c.601G>A (p.Gly201Ser) c.627+1733G>A (n.627+1733G>A) c.574G>A (p.Gly192Ser) c.44G>A n.566+1733G>A c.178G>A (p.Gly60Ser) | |
| 1 | g.150750049A>C | CA420697786 | CTSS | c.750T>G (p.Val250=) c.522T>G (p.Val174=) c.477T>G (p.Val159=) c.600T>G (p.Val200=) c.627+1732T>G (n.627+1732T>G) c.573T>G (p.Val191=) c.43T>G n.566+1732T>G c.177T>G (p.Val59=) | |
| 1 | g.150750049A>G | CA420697787 | CTSS | c.750T>C (p.Val250=) c.522T>C (p.Val174=) c.477T>C (p.Val159=) c.600T>C (p.Val200=) c.627+1732T>C (n.627+1732T>C) c.573T>C (p.Val191=) c.43T>C n.566+1732T>C c.177T>C (p.Val59=) | |
| 1 | g.150750049A>T | CA420697788 | CTSS | c.750T>A (p.Val250=) c.522T>A (p.Val174=) c.477T>A (p.Val159=) c.600T>A (p.Val200=) c.627+1732T>A (n.627+1732T>A) c.573T>A (p.Val191=) c.43T>A n.566+1732T>A c.177T>A (p.Val59=) | |
| 1 | g.150750050A>C | CA342327023 | CTSS | c.749T>G (p.Val250Gly) c.521T>G (p.Val174Gly) c.476T>G (p.Val159Gly) c.599T>G (p.Val200Gly) c.627+1731T>G (n.627+1731T>G) c.572T>G (p.Val191Gly) c.42T>G n.566+1731T>G c.176T>G (p.Val59Gly) | |
| 1 | g.150750050A>G | CA342327024 | CTSS | c.749T>C (p.Val250Ala) c.521T>C (p.Val174Ala) c.476T>C (p.Val159Ala) c.599T>C (p.Val200Ala) c.627+1731T>C (n.627+1731T>C) c.572T>C (p.Val191Ala) c.42T>C n.566+1731T>C c.176T>C (p.Val59Ala) | |
| 1 | g.150750050A>T | CA342327030 | CTSS | c.749T>A (p.Val250Asp) c.521T>A (p.Val174Asp) c.476T>A (p.Val159Asp) c.599T>A (p.Val200Asp) c.627+1731T>A (n.627+1731T>A) c.572T>A (p.Val191Asp) c.42T>A n.566+1731T>A c.176T>A (p.Val59Asp) | |
| 1 | g.150750051C>A | CA342327034 | CTSS | c.748G>T (p.Val250Phe) c.520G>T (p.Val174Phe) c.475G>T (p.Val159Phe) c.598G>T (p.Val200Phe) c.627+1730G>T (n.627+1730G>T) c.571G>T (p.Val191Phe) c.41G>T n.566+1730G>T c.175G>T (p.Val59Phe) | |
| 1 | g.150750051C>G | CA342327041 | CTSS | c.748G>C (p.Val250Leu) c.520G>C (p.Val174Leu) c.475G>C (p.Val159Leu) c.598G>C (p.Val200Leu) c.627+1730G>C (n.627+1730G>C) c.571G>C (p.Val191Leu) c.41G>C n.566+1730G>C c.175G>C (p.Val59Leu) | |
| 1 | g.150750051C>T | CA342327044 | CTSS | c.748G>A (p.Val250Ile) c.520G>A (p.Val174Ile) c.475G>A (p.Val159Ile) c.598G>A (p.Val200Ile) c.627+1730G>A (n.627+1730G>A) c.571G>A (p.Val191Ile) c.41G>A n.566+1730G>A c.175G>A (p.Val59Ile) | |
| 1 | g.150750052A>C | CA420697789 | CTSS | c.747T>G (p.Ser249=) c.519T>G (p.Ser173=) c.474T>G (p.Ser158=) c.597T>G (p.Ser199=) c.627+1729T>G (n.627+1729T>G) c.570T>G (p.Ser190=) c.40T>G n.566+1729T>G c.174T>G (p.Ser58=) | |
| 1 | g.150750052A>G | CA420697790 | CTSS | c.747T>C (p.Ser249=) c.519T>C (p.Ser173=) c.474T>C (p.Ser158=) c.597T>C (p.Ser199=) c.627+1729T>C (n.627+1729T>C) c.570T>C (p.Ser190=) c.40T>C n.566+1729T>C c.174T>C (p.Ser58=) | dbSNP |
| 1 | g.150750052A>T | CA420697791 | CTSS | c.747T>A (p.Ser249=) c.519T>A (p.Ser173=) c.474T>A (p.Ser158=) c.597T>A (p.Ser199=) c.627+1729T>A (n.627+1729T>A) c.570T>A (p.Ser190=) c.40T>A n.566+1729T>A c.174T>A (p.Ser58=) | |
| 1 | g.150750053G>A | CA342327049 | CTSS | c.746C>T (p.Ser249Phe) c.518C>T (p.Ser173Phe) c.473C>T (p.Ser158Phe) c.596C>T (p.Ser199Phe) c.627+1728C>T (n.627+1728C>T) c.569C>T (p.Ser190Phe) c.39C>T n.566+1728C>T c.173C>T (p.Ser58Phe) | |
| 1 | g.150750053G>C | CA342327051 | CTSS | c.746C>G (p.Ser249Cys) c.518C>G (p.Ser173Cys) c.473C>G (p.Ser158Cys) c.596C>G (p.Ser199Cys) c.627+1728C>G (n.627+1728C>G) c.569C>G (p.Ser190Cys) c.39C>G n.566+1728C>G c.173C>G (p.Ser58Cys) | |
| 1 | g.150750053G>T | CA342327055 | CTSS | c.746C>A (p.Ser249Tyr) c.518C>A (p.Ser173Tyr) c.473C>A (p.Ser158Tyr) c.596C>A (p.Ser199Tyr) c.627+1728C>A (n.627+1728C>A) c.569C>A (p.Ser190Tyr) c.39C>A n.566+1728C>A c.173C>A (p.Ser58Tyr) | |
| 1 | g.150750054A>C | CA342327064 | CTSS | c.745T>G (p.Ser249Ala) c.517T>G (p.Ser173Ala) c.472T>G (p.Ser158Ala) c.595T>G (p.Ser199Ala) c.627+1727T>G (n.627+1727T>G) c.568T>G (p.Ser190Ala) c.38T>G n.566+1727T>G c.172T>G (p.Ser58Ala) | |
| 1 | g.150750054A>G | CA342327065 | CTSS | c.745T>C (p.Ser249Pro) c.517T>C (p.Ser173Pro) c.472T>C (p.Ser158Pro) c.595T>C (p.Ser199Pro) c.627+1727T>C (n.627+1727T>C) c.568T>C (p.Ser190Pro) c.38T>C n.566+1727T>C c.172T>C (p.Ser58Pro) | |
| 1 | g.150750054A>T | CA342327062 | CTSS | c.745T>A (p.Ser249Thr) c.517T>A (p.Ser173Thr) c.472T>A (p.Ser158Thr) c.595T>A (p.Ser199Thr) c.627+1727T>A (n.627+1727T>A) c.568T>A (p.Ser190Thr) c.38T>A n.566+1727T>A c.172T>A (p.Ser58Thr) | |
| 1 | g.150750055C>A | CA420697793 | CTSS | c.744G>T (p.Val248=) c.516G>T (p.Val172=) c.471G>T (p.Val157=) c.594G>T (p.Val198=) c.627+1726G>T (n.627+1726G>T) c.567G>T (p.Val189=) c.37G>T n.566+1726G>T c.171G>T (p.Val57=) | |
| 1 | g.150750055C= | CA1148450049 | CTSS | c.744G= (p.Val248=) c.516G= (p.Val172=) c.471G= (p.Val157=) c.594G= (p.Val198=) c.627+1726G= (n.627+1726G=) c.567G= (p.Val189=) c.37G= n.566+1726G= c.171G= (p.Val57=) | |
| 1 | g.150750055C>G | CA420697792 | CTSS | c.744G>C (p.Val248=) c.516G>C (p.Val172=) c.471G>C (p.Val157=) c.594G>C (p.Val198=) c.627+1726G>C (n.627+1726G>C) c.567G>C (p.Val189=) c.37G>C n.566+1726G>C c.171G>C (p.Val57=) | |
| 1 | g.150750055C>T | CA1080220 | CTSS | c.744G>A (p.Val248=) c.516G>A (p.Val172=) c.471G>A (p.Val157=) c.594G>A (p.Val198=) c.627+1726G>A (n.627+1726G>A) c.567G>A (p.Val189=) c.37G>A n.566+1726G>A c.171G>A (p.Val57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750056A= | CA2479293024 | CTSS | c.743T= (p.Val248=) c.515T= (p.Val172=) c.470T= (p.Val157=) c.593T= (p.Val198=) c.627+1725T= (n.627+1725T=) c.566T= (p.Val189=) c.36T= n.566+1725T= c.170T= (p.Val57=) | |
| 1 | g.150750056A>C | CA342327085 | CTSS | c.743T>G (p.Val248Gly) c.515T>G (p.Val172Gly) c.470T>G (p.Val157Gly) c.593T>G (p.Val198Gly) c.627+1725T>G (n.627+1725T>G) c.566T>G (p.Val189Gly) c.36T>G n.566+1725T>G c.170T>G (p.Val57Gly) | |
| 1 | g.150750056A>G | CA342327090 | CTSS | c.743T>C (p.Val248Ala) c.515T>C (p.Val172Ala) c.470T>C (p.Val157Ala) c.593T>C (p.Val198Ala) c.627+1725T>C (n.627+1725T>C) c.566T>C (p.Val189Ala) c.36T>C n.566+1725T>C c.170T>C (p.Val57Ala) | dbSNP gnomAD v4 |
| 1 | g.150750056A>T | CA342327087 | CTSS | c.743T>A (p.Val248Glu) c.515T>A (p.Val172Glu) c.470T>A (p.Val157Glu) c.593T>A (p.Val198Glu) c.627+1725T>A (n.627+1725T>A) c.566T>A (p.Val189Glu) c.36T>A n.566+1725T>A c.170T>A (p.Val57Glu) | |
| 1 | g.150750057C>A | CA342327091 | CTSS | c.742G>T (p.Val248Leu) c.514G>T (p.Val172Leu) c.469G>T (p.Val157Leu) c.592G>T (p.Val198Leu) c.627+1724G>T (n.627+1724G>T) c.565G>T (p.Val189Leu) c.35G>T n.566+1724G>T c.169G>T (p.Val57Leu) | |
| 1 | g.150750057C>G | CA342327097 | CTSS | c.742G>C (p.Val248Leu) c.514G>C (p.Val172Leu) c.469G>C (p.Val157Leu) c.592G>C (p.Val198Leu) c.627+1724G>C (n.627+1724G>C) c.565G>C (p.Val189Leu) c.35G>C n.566+1724G>C c.169G>C (p.Val57Leu) | |
| 1 | g.150750057C>T | CA342327094 | CTSS | c.742G>A (p.Val248Met) c.514G>A (p.Val172Met) c.469G>A (p.Val157Met) c.592G>A (p.Val198Met) c.627+1724G>A (n.627+1724G>A) c.565G>A (p.Val189Met) c.35G>A n.566+1724G>A c.169G>A (p.Val57Met) | COSMIC |
| 1 | g.150750058T>A | CA420697794 | CTSS | c.741A>T (p.Pro247=) c.513A>T (p.Pro171=) c.468A>T (p.Pro156=) c.591A>T (p.Pro197=) c.627+1723A>T (n.627+1723A>T) c.564A>T (p.Pro188=) c.34A>T n.566+1723A>T c.168A>T (p.Pro56=) | |
| 1 | g.150750058T>C | CA420697795 | CTSS | c.741A>G (p.Pro247=) c.513A>G (p.Pro171=) c.468A>G (p.Pro156=) c.591A>G (p.Pro197=) c.627+1723A>G (n.627+1723A>G) c.564A>G (p.Pro188=) c.34A>G n.566+1723A>G c.168A>G (p.Pro56=) | |
| 1 | g.150750058T>G | CA420697796 | CTSS | c.741A>C (p.Pro247=) c.513A>C (p.Pro171=) c.468A>C (p.Pro156=) c.591A>C (p.Pro197=) c.627+1723A>C (n.627+1723A>C) c.564A>C (p.Pro188=) c.34A>C n.566+1723A>C c.168A>C (p.Pro56=) | |
| 1 | g.150750059G>A | CA342327098 | CTSS | c.740C>T (p.Pro247Leu) c.512C>T (p.Pro171Leu) c.467C>T (p.Pro156Leu) c.590C>T (p.Pro197Leu) c.627+1722C>T (n.627+1722C>T) c.563C>T (p.Pro188Leu) c.33C>T n.566+1722C>T c.167C>T (p.Pro56Leu) | COSMIC |
| 1 | g.150750059G>C | CA342327099 | CTSS | c.740C>G (p.Pro247Arg) c.512C>G (p.Pro171Arg) c.467C>G (p.Pro156Arg) c.590C>G (p.Pro197Arg) c.627+1722C>G (n.627+1722C>G) c.563C>G (p.Pro188Arg) c.33C>G n.566+1722C>G c.167C>G (p.Pro56Arg) | |
| 1 | g.150750059G>T | CA342327100 | CTSS | c.740C>A (p.Pro247Gln) c.512C>A (p.Pro171Gln) c.467C>A (p.Pro156Gln) c.590C>A (p.Pro197Gln) c.627+1722C>A (n.627+1722C>A) c.563C>A (p.Pro188Gln) c.33C>A n.566+1722C>A c.167C>A (p.Pro56Gln) | |
| 1 | g.150750060G>A | CA342327102 | CTSS | c.739C>T (p.Pro247Ser) c.511C>T (p.Pro171Ser) c.466C>T (p.Pro156Ser) c.589C>T (p.Pro197Ser) c.627+1721C>T (n.627+1721C>T) c.562C>T (p.Pro188Ser) c.32C>T n.566+1721C>T c.166C>T (p.Pro56Ser) | |
| 1 | g.150750060G>C | CA342327103 | CTSS | c.739C>G (p.Pro247Ala) c.511C>G (p.Pro171Ala) c.466C>G (p.Pro156Ala) c.589C>G (p.Pro197Ala) c.627+1721C>G (n.627+1721C>G) c.562C>G (p.Pro188Ala) c.32C>G n.566+1721C>G c.166C>G (p.Pro56Ala) | |
| 1 | g.150750060G>T | CA342327104 | CTSS | c.739C>A (p.Pro247Thr) c.511C>A (p.Pro171Thr) c.466C>A (p.Pro156Thr) c.589C>A (p.Pro197Thr) c.627+1721C>A (n.627+1721C>A) c.562C>A (p.Pro188Thr) c.32C>A n.566+1721C>A c.166C>A (p.Pro56Thr) | |
| 1 | g.150750061G>A | CA420697797 | CTSS | c.738C>T (p.Gly246=) c.510C>T (p.Gly170=) c.465C>T (p.Gly155=) c.588C>T (p.Gly196=) c.627+1720C>T (n.627+1720C>T) c.561C>T (p.Gly187=) c.31C>T n.566+1720C>T c.165C>T (p.Gly55=) | |
| 1 | g.150750061G>C | CA420697798 | CTSS | c.738C>G (p.Gly246=) c.510C>G (p.Gly170=) c.465C>G (p.Gly155=) c.588C>G (p.Gly196=) c.627+1720C>G (n.627+1720C>G) c.561C>G (p.Gly187=) c.31C>G n.566+1720C>G c.165C>G (p.Gly55=) | |
| 1 | g.150750061G= | CA2479293025 | CTSS | c.738C= (p.Gly246=) c.510C= (p.Gly170=) c.465C= (p.Gly155=) c.588C= (p.Gly196=) c.627+1720C= (n.627+1720C=) c.561C= (p.Gly187=) c.31C= n.566+1720C= c.165C= (p.Gly55=) | |
| 1 | g.150750061G>T | CA420697799 | CTSS | c.738C>A (p.Gly246=) c.510C>A (p.Gly170=) c.465C>A (p.Gly155=) c.588C>A (p.Gly196=) c.627+1720C>A (n.627+1720C>A) c.561C>A (p.Gly187=) c.31C>A n.566+1720C>A c.165C>A (p.Gly55=) | |
| 1 | g.150750062C>A | CA342327108 | CTSS | c.737G>T (p.Gly246Val) c.509G>T (p.Gly170Val) c.464G>T (p.Gly155Val) c.587G>T (p.Gly196Val) c.627+1719G>T (n.627+1719G>T) c.560G>T (p.Gly187Val) c.30G>T n.566+1719G>T c.164G>T (p.Gly55Val) | |
| 1 | g.150750062C>G | CA342327109 | CTSS | c.737G>C (p.Gly246Ala) c.509G>C (p.Gly170Ala) c.464G>C (p.Gly155Ala) c.587G>C (p.Gly196Ala) c.627+1719G>C (n.627+1719G>C) c.560G>C (p.Gly187Ala) c.30G>C n.566+1719G>C c.164G>C (p.Gly55Ala) | |
| 1 | g.150750062C>T | CA342327112 | CTSS | c.737G>A (p.Gly246Asp) c.509G>A (p.Gly170Asp) c.464G>A (p.Gly155Asp) c.587G>A (p.Gly196Asp) c.627+1719G>A (n.627+1719G>A) c.560G>A (p.Gly187Asp) c.30G>A n.566+1719G>A c.164G>A (p.Gly55Asp) | |
| 1 | g.150750063dup | CA1007653307 | CTSS | c.737dup (p.Val248SerfsTer22) c.509dup (p.Val172SerfsTer22) c.737dup (p.Val248SerfsTer18) c.737dup (p.Val248SerfsTer?) c.464dup (p.Val157SerfsTer22) c.587dup (p.Val198SerfsTer22) c.627+1719dup (n.627+1719dup) c.560dup (p.Val189SerfsTer22) c.737dup (p.Val248SerfsTer19) c.30dup n.566+1719dup c.164dup (p.Val57SerfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750063C>A | CA342327115 | CTSS | c.736G>T (p.Gly246Cys) c.508G>T (p.Gly170Cys) c.463G>T (p.Gly155Cys) c.586G>T (p.Gly196Cys) c.627+1718G>T (n.627+1718G>T) c.559G>T (p.Gly187Cys) c.29G>T n.566+1718G>T c.163G>T (p.Gly55Cys) | |
| 1 | g.150750063C= | CA2479293026 | CTSS | c.736G= (p.Gly246=) c.508G= (p.Gly170=) c.463G= (p.Gly155=) c.586G= (p.Gly196=) c.627+1718G= (n.627+1718G=) c.559G= (p.Gly187=) c.29G= n.566+1718G= c.163G= (p.Gly55=) | |
| 1 | g.150750063C>G | CA342327117 | CTSS | c.736G>C (p.Gly246Arg) c.508G>C (p.Gly170Arg) c.463G>C (p.Gly155Arg) c.586G>C (p.Gly196Arg) c.627+1718G>C (n.627+1718G>C) c.559G>C (p.Gly187Arg) c.29G>C n.566+1718G>C c.163G>C (p.Gly55Arg) | |
| 1 | g.150750063C>T | CA342327119 | CTSS | c.736G>A (p.Gly246Ser) c.508G>A (p.Gly170Ser) c.463G>A (p.Gly155Ser) c.586G>A (p.Gly196Ser) c.627+1718G>A (n.627+1718G>A) c.559G>A (p.Gly187Ser) c.29G>A n.566+1718G>A c.163G>A (p.Gly55Ser) | dbSNP |
| 1 | g.150750064T>A | CA342327123 | CTSS | c.735A>T (p.Lys245Asn) c.507A>T (p.Lys169Asn) c.462A>T (p.Lys154Asn) c.585A>T (p.Lys195Asn) c.627+1717A>T (n.627+1717A>T) c.558A>T (p.Lys186Asn) c.28A>T n.566+1717A>T c.162A>T (p.Lys54Asn) | |
| 1 | g.150750064T>C | CA420697800 | CTSS | c.735A>G (p.Lys245=) c.507A>G (p.Lys169=) c.462A>G (p.Lys154=) c.585A>G (p.Lys195=) c.627+1717A>G (n.627+1717A>G) c.558A>G (p.Lys186=) c.28A>G n.566+1717A>G c.162A>G (p.Lys54=) | |
| 1 | g.150750064T>G | CA342327121 | CTSS | c.735A>C (p.Lys245Asn) c.507A>C (p.Lys169Asn) c.462A>C (p.Lys154Asn) c.585A>C (p.Lys195Asn) c.627+1717A>C (n.627+1717A>C) c.558A>C (p.Lys186Asn) c.28A>C n.566+1717A>C c.162A>C (p.Lys54Asn) | |
| 1 | g.150750065T>A | CA342327124 | CTSS | c.734A>T (p.Lys245Ile) c.506A>T (p.Lys169Ile) c.461A>T (p.Lys154Ile) c.584A>T (p.Lys195Ile) c.627+1716A>T (n.627+1716A>T) c.557A>T (p.Lys186Ile) c.27A>T n.566+1716A>T c.161A>T (p.Lys54Ile) | |
| 1 | g.150750065T>C | CA342327125 | CTSS | c.734A>G (p.Lys245Arg) c.506A>G (p.Lys169Arg) c.461A>G (p.Lys154Arg) c.584A>G (p.Lys195Arg) c.627+1716A>G (n.627+1716A>G) c.557A>G (p.Lys186Arg) c.27A>G n.566+1716A>G c.161A>G (p.Lys54Arg) | |
| 1 | g.150750065T>G | CA342327126 | CTSS | c.734A>C (p.Lys245Thr) c.506A>C (p.Lys169Thr) c.461A>C (p.Lys154Thr) c.584A>C (p.Lys195Thr) c.627+1716A>C (n.627+1716A>C) c.557A>C (p.Lys186Thr) c.27A>C n.566+1716A>C c.161A>C (p.Lys54Thr) | |
| 1 | g.150750066T>A | CA342327128 | CTSS | c.733A>T (p.Lys245Ter) c.505A>T (p.Lys169Ter) c.460A>T (p.Lys154Ter) c.583A>T (p.Lys195Ter) c.627+1715A>T (n.627+1715A>T) c.556A>T (p.Lys186Ter) c.26A>T n.566+1715A>T c.160A>T (p.Lys54Ter) | |
| 1 | g.150750066T>C | CA342327130 | CTSS | c.733A>G (p.Lys245Glu) c.505A>G (p.Lys169Glu) c.460A>G (p.Lys154Glu) c.583A>G (p.Lys195Glu) c.627+1715A>G (n.627+1715A>G) c.556A>G (p.Lys186Glu) c.26A>G n.566+1715A>G c.160A>G (p.Lys54Glu) | |
| 1 | g.150750066T>G | CA342327133 | CTSS | c.733A>C (p.Lys245Gln) c.505A>C (p.Lys169Gln) c.460A>C (p.Lys154Gln) c.583A>C (p.Lys195Gln) c.627+1715A>C (n.627+1715A>C) c.556A>C (p.Lys186Gln) c.26A>C n.566+1715A>C c.160A>C (p.Lys54Gln) | |
| 1 | g.150750067A= | CA2479293027 | CTSS | c.732T= (p.Asn244=) c.504T= (p.Asn168=) c.459T= (p.Asn153=) c.582T= (p.Asn194=) c.627+1714T= (n.627+1714T=) c.555T= (p.Asn185=) c.25T= n.566+1714T= c.159T= (p.Asn53=) | |
| 1 | g.150750067A>C | CA342327134 | CTSS | c.732T>G (p.Asn244Lys) c.504T>G (p.Asn168Lys) c.459T>G (p.Asn153Lys) c.582T>G (p.Asn194Lys) c.627+1714T>G (n.627+1714T>G) c.555T>G (p.Asn185Lys) c.25T>G n.566+1714T>G c.159T>G (p.Asn53Lys) | |
| 1 | g.150750067A>G | CA1080221 | CTSS | c.732T>C (p.Asn244=) c.504T>C (p.Asn168=) c.459T>C (p.Asn153=) c.582T>C (p.Asn194=) c.627+1714T>C (n.627+1714T>C) c.555T>C (p.Asn185=) c.25T>C n.566+1714T>C c.159T>C (p.Asn53=) | dbSNP ExAC gnomAD v2 |
| 1 | g.150750067A>T | CA342327144 | CTSS | c.732T>A (p.Asn244Lys) c.504T>A (p.Asn168Lys) c.459T>A (p.Asn153Lys) c.582T>A (p.Asn194Lys) c.627+1714T>A (n.627+1714T>A) c.555T>A (p.Asn185Lys) c.25T>A n.566+1714T>A c.159T>A (p.Asn53Lys) | gnomAD v4 |
| 1 | g.150750068T>A | CA342327151 | CTSS | c.731A>T (p.Asn244Ile) c.503A>T (p.Asn168Ile) c.458A>T (p.Asn153Ile) c.581A>T (p.Asn194Ile) c.627+1713A>T (n.627+1713A>T) c.554A>T (p.Asn185Ile) c.24A>T n.566+1713A>T c.158A>T (p.Asn53Ile) | |
| 1 | g.150750068T>C | CA342327153 | CTSS | c.731A>G (p.Asn244Ser) c.503A>G (p.Asn168Ser) c.458A>G (p.Asn153Ser) c.581A>G (p.Asn194Ser) c.627+1713A>G (n.627+1713A>G) c.554A>G (p.Asn185Ser) c.24A>G n.566+1713A>G c.158A>G (p.Asn53Ser) | |
| 1 | g.150750068T>G | CA342327154 | CTSS | c.731A>C (p.Asn244Thr) c.503A>C (p.Asn168Thr) c.458A>C (p.Asn153Thr) c.581A>C (p.Asn194Thr) c.627+1713A>C (n.627+1713A>C) c.554A>C (p.Asn185Thr) c.24A>C n.566+1713A>C c.158A>C (p.Asn53Thr) | |
| 1 | g.150750069T>A | CA342327163 | CTSS | c.730A>T (p.Asn244Tyr) c.502A>T (p.Asn168Tyr) c.457A>T (p.Asn153Tyr) c.580A>T (p.Asn194Tyr) c.627+1712A>T (n.627+1712A>T) c.553A>T (p.Asn185Tyr) c.23A>T n.566+1712A>T c.157A>T (p.Asn53Tyr) | |
| 1 | g.150750069T>C | CA342327160 | CTSS | c.730A>G (p.Asn244Asp) c.502A>G (p.Asn168Asp) c.457A>G (p.Asn153Asp) c.580A>G (p.Asn194Asp) c.627+1712A>G (n.627+1712A>G) c.553A>G (p.Asn185Asp) c.23A>G n.566+1712A>G c.157A>G (p.Asn53Asp) | |
| 1 | g.150750069T>G | CA1080222 | CTSS | c.730A>C (p.Asn244His) c.502A>C (p.Asn168His) c.457A>C (p.Asn153His) c.580A>C (p.Asn194His) c.627+1712A>C (n.627+1712A>C) c.553A>C (p.Asn185His) c.23A>C n.566+1712A>C c.157A>C (p.Asn53His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150750069T= | CA2479293028 | CTSS | c.730A= (p.Asn244=) c.502A= (p.Asn168=) c.457A= (p.Asn153=) c.580A= (p.Asn194=) c.627+1712A= (n.627+1712A=) c.553A= (p.Asn185=) c.23A= n.566+1712A= c.157A= (p.Asn53=) | |
| 1 | g.150750070G>A | CA30106782 | CTSS | c.729C>T (p.Ala243=) c.501C>T (p.Ala167=) c.456C>T (p.Ala152=) c.579C>T (p.Ala193=) c.627+1711C>T (n.627+1711C>T) c.552C>T (p.Ala184=) c.22C>T n.566+1711C>T c.156C>T (p.Ala52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750070G>C | CA420697802 | CTSS | c.729C>G (p.Ala243=) c.501C>G (p.Ala167=) c.456C>G (p.Ala152=) c.579C>G (p.Ala193=) c.627+1711C>G (n.627+1711C>G) c.552C>G (p.Ala184=) c.22C>G n.566+1711C>G c.156C>G (p.Ala52=) | |
| 1 | g.150750070G= | CA1143865520 | CTSS | c.729C= (p.Ala243=) c.501C= (p.Ala167=) c.456C= (p.Ala152=) c.579C= (p.Ala193=) c.627+1711C= (n.627+1711C=) c.552C= (p.Ala184=) c.22C= n.566+1711C= c.156C= (p.Ala52=) | |
| 1 | g.150750070G>T | CA420697801 | CTSS | c.729C>A (p.Ala243=) c.501C>A (p.Ala167=) c.456C>A (p.Ala152=) c.579C>A (p.Ala193=) c.627+1711C>A (n.627+1711C>A) c.552C>A (p.Ala184=) c.22C>A n.566+1711C>A c.156C>A (p.Ala52=) | |
| 1 | g.150750071G>A | CA342327170 | CTSS | c.728C>T (p.Ala243Val) c.500C>T (p.Ala167Val) c.455C>T (p.Ala152Val) c.578C>T (p.Ala193Val) c.627+1710C>T (n.627+1710C>T) c.551C>T (p.Ala184Val) c.21C>T n.566+1710C>T c.155C>T (p.Ala52Val) | |
| 1 | g.150750071G>C | CA342327172 | CTSS | c.728C>G (p.Ala243Gly) c.500C>G (p.Ala167Gly) c.455C>G (p.Ala152Gly) c.578C>G (p.Ala193Gly) c.627+1710C>G (n.627+1710C>G) c.551C>G (p.Ala184Gly) c.21C>G n.566+1710C>G c.155C>G (p.Ala52Gly) | |
| 1 | g.150750071G>T | CA342327175 | CTSS | c.728C>A (p.Ala243Asp) c.500C>A (p.Ala167Asp) c.455C>A (p.Ala152Asp) c.578C>A (p.Ala193Asp) c.627+1710C>A (n.627+1710C>A) c.551C>A (p.Ala184Asp) c.21C>A n.566+1710C>A c.155C>A (p.Ala52Asp) | |
| 1 | g.150750072C>A | CA342327178 | CTSS | c.727G>T (p.Ala243Ser) c.499G>T (p.Ala167Ser) c.454G>T (p.Ala152Ser) c.577G>T (p.Ala193Ser) c.627+1709G>T (n.627+1709G>T) c.550G>T (p.Ala184Ser) c.20G>T n.566+1709G>T c.154G>T (p.Ala52Ser) | |
| 1 | g.150750072C= | CA1149048025 | CTSS | c.727G= (p.Ala243=) c.499G= (p.Ala167=) c.454G= (p.Ala152=) c.577G= (p.Ala193=) c.627+1709G= (n.627+1709G=) c.550G= (p.Ala184=) c.20G= n.566+1709G= c.154G= (p.Ala52=) | |
| 1 | g.150750072C>G | CA342327180 | CTSS | c.727G>C (p.Ala243Pro) c.499G>C (p.Ala167Pro) c.454G>C (p.Ala152Pro) c.577G>C (p.Ala193Pro) c.627+1709G>C (n.627+1709G>C) c.550G>C (p.Ala184Pro) c.20G>C n.566+1709G>C c.154G>C (p.Ala52Pro) | |
| 1 | g.150750072C>T | CA1080223 | CTSS | c.727G>A (p.Ala243Thr) c.499G>A (p.Ala167Thr) c.454G>A (p.Ala152Thr) c.577G>A (p.Ala193Thr) c.627+1709G>A (n.627+1709G>A) c.550G>A (p.Ala184Thr) c.20G>A n.566+1709G>A c.154G>A (p.Ala52Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150750073C>A | CA420697803 | CTSS | c.726G>T (p.Val242=) c.498G>T (p.Val166=) c.453G>T (p.Val151=) c.576G>T (p.Val192=) c.627+1708G>T (n.627+1708G>T) c.549G>T (p.Val183=) c.19G>T n.566+1708G>T c.153G>T (p.Val51=) | |
| 1 | g.150750073C= | CA2479293029 | CTSS | c.726G= (p.Val242=) c.498G= (p.Val166=) c.453G= (p.Val151=) c.576G= (p.Val192=) c.627+1708G= (n.627+1708G=) c.549G= (p.Val183=) c.19G= n.566+1708G= c.153G= (p.Val51=) | |
| 1 | g.150750073C>G | CA420697804 | CTSS | c.726G>C (p.Val242=) c.498G>C (p.Val166=) c.453G>C (p.Val151=) c.576G>C (p.Val192=) c.627+1708G>C (n.627+1708G>C) c.549G>C (p.Val183=) c.19G>C n.566+1708G>C c.153G>C (p.Val51=) | |
| 1 | g.150750073C>T | CA30106789 | CTSS | c.726G>A (p.Val242=) c.498G>A (p.Val166=) c.453G>A (p.Val151=) c.576G>A (p.Val192=) c.627+1708G>A (n.627+1708G>A) c.549G>A (p.Val183=) c.19G>A n.566+1708G>A c.153G>A (p.Val51=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750074A>C | CA342327183 | CTSS | c.725T>G (p.Val242Gly) c.497T>G (p.Val166Gly) c.452T>G (p.Val151Gly) c.575T>G (p.Val192Gly) c.627+1707T>G (n.627+1707T>G) c.548T>G (p.Val183Gly) c.18T>G n.566+1707T>G c.152T>G (p.Val51Gly) | |
| 1 | g.150750074A>G | CA342327184 | CTSS | c.725T>C (p.Val242Ala) c.497T>C (p.Val166Ala) c.452T>C (p.Val151Ala) c.575T>C (p.Val192Ala) c.627+1707T>C (n.627+1707T>C) c.548T>C (p.Val183Ala) c.18T>C n.566+1707T>C c.152T>C (p.Val51Ala) | |
| 1 | g.150750074A>T | CA342327186 | CTSS | c.725T>A (p.Val242Glu) c.497T>A (p.Val166Glu) c.452T>A (p.Val151Glu) c.575T>A (p.Val192Glu) c.627+1707T>A (n.627+1707T>A) c.548T>A (p.Val183Glu) c.18T>A n.566+1707T>A c.152T>A (p.Val51Glu) | |
| 1 | g.150750075C>A | CA342327187 | CTSS | c.724G>T (p.Val242Leu) c.496G>T (p.Val166Leu) c.451G>T (p.Val151Leu) c.574G>T (p.Val192Leu) c.627+1706G>T (n.627+1706G>T) c.547G>T (p.Val183Leu) c.17G>T n.566+1706G>T c.151G>T (p.Val51Leu) | |
| 1 | g.150750075C>G | CA342327188 | CTSS | c.724G>C (p.Val242Leu) c.496G>C (p.Val166Leu) c.451G>C (p.Val151Leu) c.574G>C (p.Val192Leu) c.627+1706G>C (n.627+1706G>C) c.547G>C (p.Val183Leu) c.17G>C n.566+1706G>C c.151G>C (p.Val51Leu) | |
| 1 | g.150750075C>T | CA342327190 | CTSS | c.724G>A (p.Val242Met) c.496G>A (p.Val166Met) c.451G>A (p.Val151Met) c.574G>A (p.Val192Met) c.627+1706G>A (n.627+1706G>A) c.547G>A (p.Val183Met) c.17G>A n.566+1706G>A c.151G>A (p.Val51Met) | gnomAD v4 |
| 1 | g.150750076A>C | CA420697805 | CTSS | c.723T>G (p.Ala241=) c.495T>G (p.Ala165=) c.450T>G (p.Ala150=) c.573T>G (p.Ala191=) c.627+1705T>G (n.627+1705T>G) c.546T>G (p.Ala182=) c.16T>G n.566+1705T>G c.150T>G (p.Ala50=) | |
| 1 | g.150750076A>G | CA420697806 | CTSS | c.723T>C (p.Ala241=) c.495T>C (p.Ala165=) c.450T>C (p.Ala150=) c.573T>C (p.Ala191=) c.627+1705T>C (n.627+1705T>C) c.546T>C (p.Ala182=) c.16T>C n.566+1705T>C c.150T>C (p.Ala50=) | |
| 1 | g.150750076A>T | CA420697807 | CTSS | c.723T>A (p.Ala241=) c.495T>A (p.Ala165=) c.450T>A (p.Ala150=) c.573T>A (p.Ala191=) c.627+1705T>A (n.627+1705T>A) c.546T>A (p.Ala182=) c.16T>A n.566+1705T>A c.150T>A (p.Ala50=) | |
| 1 | g.150750077G>A | CA342327198 | CTSS | c.722C>T (p.Ala241Val) c.494C>T (p.Ala165Val) c.449C>T (p.Ala150Val) c.572C>T (p.Ala191Val) c.627+1704C>T (n.627+1704C>T) c.545C>T (p.Ala182Val) c.15C>T n.566+1704C>T c.149C>T (p.Ala50Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750077G>C | CA342327195 | CTSS | c.722C>G (p.Ala241Gly) c.494C>G (p.Ala165Gly) c.449C>G (p.Ala150Gly) c.572C>G (p.Ala191Gly) c.627+1704C>G (n.627+1704C>G) c.545C>G (p.Ala182Gly) c.15C>G n.566+1704C>G c.149C>G (p.Ala50Gly) | |
| 1 | g.150750077G= | CA2479293030 | CTSS | c.722C= (p.Ala241=) c.494C= (p.Ala165=) c.449C= (p.Ala150=) c.572C= (p.Ala191=) c.627+1704C= (n.627+1704C=) c.545C= (p.Ala182=) c.15C= n.566+1704C= c.149C= (p.Ala50=) | |
| 1 | g.150750077G>T | CA342327193 | CTSS | c.722C>A (p.Ala241Asp) c.494C>A (p.Ala165Asp) c.449C>A (p.Ala150Asp) c.572C>A (p.Ala191Asp) c.627+1704C>A (n.627+1704C>A) c.545C>A (p.Ala182Asp) c.15C>A n.566+1704C>A c.149C>A (p.Ala50Asp) | |
| 1 | g.150750078C>A | CA342327200 | CTSS | c.721G>T (p.Ala241Ser) c.493G>T (p.Ala165Ser) c.448G>T (p.Ala150Ser) c.571G>T (p.Ala191Ser) c.627+1703G>T (n.627+1703G>T) c.544G>T (p.Ala182Ser) c.14G>T n.566+1703G>T c.148G>T (p.Ala50Ser) | |
| 1 | g.150750078C>G | CA342327202 | CTSS | c.721G>C (p.Ala241Pro) c.493G>C (p.Ala165Pro) c.448G>C (p.Ala150Pro) c.571G>C (p.Ala191Pro) c.627+1703G>C (n.627+1703G>C) c.544G>C (p.Ala182Pro) c.14G>C n.566+1703G>C c.148G>C (p.Ala50Pro) | |
| 1 | g.150750078C>T | CA342327205 | CTSS | c.721G>A (p.Ala241Thr) c.493G>A (p.Ala165Thr) c.448G>A (p.Ala150Thr) c.571G>A (p.Ala191Thr) c.627+1703G>A (n.627+1703G>A) c.544G>A (p.Ala182Thr) c.14G>A n.566+1703G>A c.148G>A (p.Ala50Thr) | |
| 1 | g.150750079T>A | CA1080224 | CTSS | c.720A>T (p.Glu240Asp) c.492A>T (p.Glu164Asp) c.447A>T (p.Glu149Asp) c.570A>T (p.Glu190Asp) c.627+1702A>T (n.627+1702A>T) c.543A>T (p.Glu181Asp) c.13A>T n.566+1702A>T c.147A>T (p.Glu49Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150750079T>C | CA420697808 | CTSS | c.720A>G (p.Glu240=) c.492A>G (p.Glu164=) c.447A>G (p.Glu149=) c.570A>G (p.Glu190=) c.627+1702A>G (n.627+1702A>G) c.543A>G (p.Glu181=) c.13A>G n.566+1702A>G c.147A>G (p.Glu49=) | |
| 1 | g.150750079T>G | CA342327209 | CTSS | c.720A>C (p.Glu240Asp) c.492A>C (p.Glu164Asp) c.447A>C (p.Glu149Asp) c.570A>C (p.Glu190Asp) c.627+1702A>C (n.627+1702A>C) c.543A>C (p.Glu181Asp) c.13A>C n.566+1702A>C c.147A>C (p.Glu49Asp) | |
| 1 | g.150750079T= | CA2479293031 | CTSS | c.720A= (p.Glu240=) c.492A= (p.Glu164=) c.447A= (p.Glu149=) c.570A= (p.Glu190=) c.627+1702A= (n.627+1702A=) c.543A= (p.Glu181=) c.13A= n.566+1702A= c.147A= (p.Glu49=) | |
| 1 | g.150750080T>A | CA342327212 | CTSS | c.719A>T (p.Glu240Val) c.491A>T (p.Glu164Val) c.446A>T (p.Glu149Val) c.569A>T (p.Glu190Val) c.627+1701A>T (n.627+1701A>T) c.542A>T (p.Glu181Val) c.12A>T n.566+1701A>T c.146A>T (p.Glu49Val) | |
| 1 | g.150750080T>C | CA342327215 | CTSS | c.719A>G (p.Glu240Gly) c.491A>G (p.Glu164Gly) c.446A>G (p.Glu149Gly) c.569A>G (p.Glu190Gly) c.627+1701A>G (n.627+1701A>G) c.542A>G (p.Glu181Gly) c.12A>G n.566+1701A>G c.146A>G (p.Glu49Gly) | |
| 1 | g.150750080T>G | CA342327216 | CTSS | c.719A>C (p.Glu240Ala) c.491A>C (p.Glu164Ala) c.446A>C (p.Glu149Ala) c.569A>C (p.Glu190Ala) c.627+1701A>C (n.627+1701A>C) c.542A>C (p.Glu181Ala) c.12A>C n.566+1701A>C c.146A>C (p.Glu49Ala) | |
| 1 | g.150750081C>A | CA342327218 | CTSS | c.718G>T (p.Glu240Ter) c.490G>T (p.Glu164Ter) c.445G>T (p.Glu149Ter) c.568G>T (p.Glu190Ter) c.627+1700G>T (n.627+1700G>T) c.541G>T (p.Glu181Ter) c.11G>T n.566+1700G>T c.145G>T (p.Glu49Ter) | |
| 1 | g.150750081C>G | CA342327219 | CTSS | c.718G>C (p.Glu240Gln) c.490G>C (p.Glu164Gln) c.445G>C (p.Glu149Gln) c.568G>C (p.Glu190Gln) c.627+1700G>C (n.627+1700G>C) c.541G>C (p.Glu181Gln) c.11G>C n.566+1700G>C c.145G>C (p.Glu49Gln) | |
| 1 | g.150750081C>T | CA342327221 | CTSS | c.718G>A (p.Glu240Lys) c.490G>A (p.Glu164Lys) c.445G>A (p.Glu149Lys) c.568G>A (p.Glu190Lys) c.627+1700G>A (n.627+1700G>A) c.541G>A (p.Glu181Lys) c.11G>A n.566+1700G>A c.145G>A (p.Glu49Lys) | |
| 1 | g.150750082T>A | CA342327223 | CTSS | c.717A>T (p.Lys239Asn) c.489A>T (p.Lys163Asn) c.444A>T (p.Lys148Asn) c.567A>T (p.Lys189Asn) c.627+1699A>T (n.627+1699A>T) c.540A>T (p.Lys180Asn) c.10A>T n.566+1699A>T c.144A>T (p.Lys48Asn) | |
| 1 | g.150750082T>C | CA420697809 | CTSS | c.717A>G (p.Lys239=) c.489A>G (p.Lys163=) c.444A>G (p.Lys148=) c.567A>G (p.Lys189=) c.627+1699A>G (n.627+1699A>G) c.540A>G (p.Lys180=) c.10A>G n.566+1699A>G c.144A>G (p.Lys48=) | |
| 1 | g.150750082T>G | CA342327226 | CTSS | c.717A>C (p.Lys239Asn) c.489A>C (p.Lys163Asn) c.444A>C (p.Lys148Asn) c.567A>C (p.Lys189Asn) c.627+1699A>C (n.627+1699A>C) c.540A>C (p.Lys180Asn) c.10A>C n.566+1699A>C c.144A>C (p.Lys48Asn) | |
| 1 | g.150750083T>A | CA342327231 | CTSS | c.716A>T (p.Lys239Ile) c.488A>T (p.Lys163Ile) c.443A>T (p.Lys148Ile) c.566A>T (p.Lys189Ile) c.627+1698A>T (n.627+1698A>T) c.539A>T (p.Lys180Ile) c.9A>T n.566+1698A>T c.143A>T (p.Lys48Ile) | |
| 1 | g.150750083T>C | CA342327233 | CTSS | c.716A>G (p.Lys239Arg) c.488A>G (p.Lys163Arg) c.443A>G (p.Lys148Arg) c.566A>G (p.Lys189Arg) c.627+1698A>G (n.627+1698A>G) c.539A>G (p.Lys180Arg) c.9A>G n.566+1698A>G c.143A>G (p.Lys48Arg) | |
| 1 | g.150750083T>G | CA342327228 | CTSS | c.716A>C (p.Lys239Thr) c.488A>C (p.Lys163Thr) c.443A>C (p.Lys148Thr) c.566A>C (p.Lys189Thr) c.627+1698A>C (n.627+1698A>C) c.539A>C (p.Lys180Thr) c.9A>C n.566+1698A>C c.143A>C (p.Lys48Thr) | |
| 1 | g.150750084T>A | CA342327236 | CTSS | c.715A>T (p.Lys239Ter) c.487A>T (p.Lys163Ter) c.442A>T (p.Lys148Ter) c.565A>T (p.Lys189Ter) c.627+1697A>T (n.627+1697A>T) c.538A>T (p.Lys180Ter) c.8A>T n.566+1697A>T c.142A>T (p.Lys48Ter) | |
| 1 | g.150750084T>C | CA342327242 | CTSS | c.715A>G (p.Lys239Glu) c.487A>G (p.Lys163Glu) c.442A>G (p.Lys148Glu) c.565A>G (p.Lys189Glu) c.627+1697A>G (n.627+1697A>G) c.538A>G (p.Lys180Glu) c.8A>G n.566+1697A>G c.142A>G (p.Lys48Glu) | dbSNP gnomAD v4 |
| 1 | g.150750084T>G | CA342327238 | CTSS | c.715A>C (p.Lys239Gln) c.487A>C (p.Lys163Gln) c.442A>C (p.Lys148Gln) c.565A>C (p.Lys189Gln) c.627+1697A>C (n.627+1697A>C) c.538A>C (p.Lys180Gln) c.8A>C n.566+1697A>C c.142A>C (p.Lys48Gln) | |
| 1 | g.150750085C>A | CA420697810 | CTSS | c.714G>T (p.Leu238=) c.486G>T (p.Leu162=) c.441G>T (p.Leu147=) c.564G>T (p.Leu188=) c.627+1696G>T (n.627+1696G>T) c.537G>T (p.Leu179=) c.7G>T n.566+1696G>T c.141G>T (p.Leu47=) | |
| 1 | g.150750085C= | CA2479293032 | CTSS | c.714G= (p.Leu238=) c.486G= (p.Leu162=) c.441G= (p.Leu147=) c.564G= (p.Leu188=) c.627+1696G= (n.627+1696G=) c.537G= (p.Leu179=) c.7G= n.566+1696G= c.141G= (p.Leu47=) | |
| 1 | g.150750085C>G | CA420697811 | CTSS | c.714G>C (p.Leu238=) c.486G>C (p.Leu162=) c.441G>C (p.Leu147=) c.564G>C (p.Leu188=) c.627+1696G>C (n.627+1696G>C) c.537G>C (p.Leu179=) c.7G>C n.566+1696G>C c.141G>C (p.Leu47=) | |
| 1 | g.150750085C>T | CA420697812 | CTSS | c.714G>A (p.Leu238=) c.486G>A (p.Leu162=) c.441G>A (p.Leu147=) c.564G>A (p.Leu188=) c.627+1696G>A (n.627+1696G>A) c.537G>A (p.Leu179=) c.7G>A n.566+1696G>A c.141G>A (p.Leu47=) | dbSNP |
| 1 | g.150750086A= | CA2479293033 | CTSS | c.713T= (p.Leu238=) c.485T= (p.Leu162=) c.440T= (p.Leu147=) c.563T= (p.Leu188=) c.627+1695T= (n.627+1695T=) c.536T= (p.Leu179=) c.6T= n.566+1695T= c.140T= (p.Leu47=) | |
| 1 | g.150750086A>C | CA342327243 | CTSS | c.713T>G (p.Leu238Arg) c.485T>G (p.Leu162Arg) c.440T>G (p.Leu147Arg) c.563T>G (p.Leu188Arg) c.627+1695T>G (n.627+1695T>G) c.536T>G (p.Leu179Arg) c.6T>G n.566+1695T>G c.140T>G (p.Leu47Arg) | |
| 1 | g.150750086A>G | CA30106804 | CTSS | c.713T>C (p.Leu238Pro) c.485T>C (p.Leu162Pro) c.440T>C (p.Leu147Pro) c.563T>C (p.Leu188Pro) c.627+1695T>C (n.627+1695T>C) c.536T>C (p.Leu179Pro) c.6T>C n.566+1695T>C c.140T>C (p.Leu47Pro) | dbSNP |
| 1 | g.150750086A>T | CA342327245 | CTSS | c.713T>A (p.Leu238Gln) c.485T>A (p.Leu162Gln) c.440T>A (p.Leu147Gln) c.563T>A (p.Leu188Gln) c.627+1695T>A (n.627+1695T>A) c.536T>A (p.Leu179Gln) c.6T>A n.566+1695T>A c.140T>A (p.Leu47Gln) | |
| 1 | g.150750087G>A | CA420697813 | CTSS | c.712C>T (p.Leu238=) c.484C>T (p.Leu162=) c.439C>T (p.Leu147=) c.562C>T (p.Leu188=) c.627+1694C>T (n.627+1694C>T) c.535C>T (p.Leu179=) c.5C>T n.566+1694C>T c.139C>T (p.Leu47=) | |
| 1 | g.150750087G>C | CA342327246 | CTSS | c.712C>G (p.Leu238Val) c.484C>G (p.Leu162Val) c.439C>G (p.Leu147Val) c.562C>G (p.Leu188Val) c.627+1694C>G (n.627+1694C>G) c.535C>G (p.Leu179Val) c.5C>G n.566+1694C>G c.139C>G (p.Leu47Val) | |
| 1 | g.150750087G>T | CA342327247 | CTSS | c.712C>A (p.Leu238Met) c.484C>A (p.Leu162Met) c.439C>A (p.Leu147Met) c.562C>A (p.Leu188Met) c.627+1694C>A (n.627+1694C>A) c.535C>A (p.Leu179Met) c.5C>A n.566+1694C>A c.139C>A (p.Leu47Met) | |
| 1 | g.150750088G>A | CA420697814 | CTSS | c.711C>T (p.Val237=) c.483C>T (p.Val161=) c.438C>T (p.Val146=) c.561C>T (p.Val187=) c.627+1693C>T (n.627+1693C>T) c.534C>T (p.Val178=) c.4C>T n.566+1693C>T c.138C>T (p.Val46=) | |
| 1 | g.150750088G>C | CA420697815 | CTSS | c.711C>G (p.Val237=) c.483C>G (p.Val161=) c.438C>G (p.Val146=) c.561C>G (p.Val187=) c.627+1693C>G (n.627+1693C>G) c.534C>G (p.Val178=) c.4C>G n.566+1693C>G c.138C>G (p.Val46=) | |
| 1 | g.150750088G>T | CA420697816 | CTSS | c.711C>A (p.Val237=) c.483C>A (p.Val161=) c.438C>A (p.Val146=) c.561C>A (p.Val187=) c.627+1693C>A (n.627+1693C>A) c.534C>A (p.Val178=) c.4C>A n.566+1693C>A c.138C>A (p.Val46=) | |
| 1 | g.150750089A= | CA2479293034 | CTSS | c.710T= (p.Val237=) c.482T= (p.Val161=) c.437T= (p.Val146=) c.560T= (p.Val187=) c.627+1692T= (n.627+1692T=) c.533T= (p.Val178=) c.3T= n.566+1692T= c.137T= (p.Val46=) | |
| 1 | g.150750089A>C | CA342327249 | CTSS | c.710T>G (p.Val237Gly) c.482T>G (p.Val161Gly) c.437T>G (p.Val146Gly) c.560T>G (p.Val187Gly) c.627+1692T>G (n.627+1692T>G) c.533T>G (p.Val178Gly) c.3T>G n.566+1692T>G c.137T>G (p.Val46Gly) | |
| 1 | g.150750089A>G | CA342327251 | CTSS | c.710T>C (p.Val237Ala) c.482T>C (p.Val161Ala) c.437T>C (p.Val146Ala) c.560T>C (p.Val187Ala) c.627+1692T>C (n.627+1692T>C) c.533T>C (p.Val178Ala) c.3T>C n.566+1692T>C c.137T>C (p.Val46Ala) | gnomAD v4 |
| 1 | g.150750089A>T | CA342327253 | CTSS | c.710T>A (p.Val237Asp) c.482T>A (p.Val161Asp) c.437T>A (p.Val146Asp) c.560T>A (p.Val187Asp) c.627+1692T>A (n.627+1692T>A) c.533T>A (p.Val178Asp) c.3T>A n.566+1692T>A c.137T>A (p.Val46Asp) | dbSNP |
| 1 | g.150750090C>A | CA342327256 | CTSS | c.709G>T (p.Val237Phe) c.481G>T (p.Val161Phe) c.436G>T (p.Val146Phe) c.559G>T (p.Val187Phe) c.627+1691G>T (n.627+1691G>T) c.532G>T (p.Val178Phe) c.2G>T n.566+1691G>T c.136G>T (p.Val46Phe) | |
| 1 | g.150750090C>G | CA342327258 | CTSS | c.709G>C (p.Val237Leu) c.481G>C (p.Val161Leu) c.436G>C (p.Val146Leu) c.559G>C (p.Val187Leu) c.627+1691G>C (n.627+1691G>C) c.532G>C (p.Val178Leu) c.2G>C n.566+1691G>C c.136G>C (p.Val46Leu) | |
| 1 | g.150750090C>T | CA342327260 | CTSS | c.709G>A (p.Val237Ile) c.481G>A (p.Val161Ile) c.436G>A (p.Val146Ile) c.559G>A (p.Val187Ile) c.627+1691G>A (n.627+1691G>A) c.532G>A (p.Val178Ile) c.2G>A n.566+1691G>A c.136G>A (p.Val46Ile) | gnomAD v4 |
| 1 | g.150750091A= | CA2479293035 | CTSS | c.708T= (p.Asp236=) c.480T= (p.Asp160=) c.435T= (p.Asp145=) c.558T= (p.Asp186=) c.627+1690T= (n.627+1690T=) c.531T= (p.Asp177=) c.1T= n.566+1690T= c.135T= (p.Asp45=) | |
| 1 | g.150750091A>C | CA342327262 | CTSS | c.708T>G (p.Asp236Glu) c.480T>G (p.Asp160Glu) c.435T>G (p.Asp145Glu) c.558T>G (p.Asp186Glu) c.627+1690T>G (n.627+1690T>G) c.531T>G (p.Asp177Glu) c.1T>G n.566+1690T>G c.135T>G (p.Asp45Glu) | |
| 1 | g.150750091A>G | CA420697818 | CTSS | c.708T>C (p.Asp236=) c.480T>C (p.Asp160=) c.435T>C (p.Asp145=) c.558T>C (p.Asp186=) c.627+1690T>C (n.627+1690T>C) c.531T>C (p.Asp177=) c.1T>C n.566+1690T>C c.135T>C (p.Asp45=) | |
| 1 | g.150750091A>T | CA1080225 | CTSS | c.708T>A (p.Asp236Glu) c.480T>A (p.Asp160Glu) c.435T>A (p.Asp145Glu) c.558T>A (p.Asp186Glu) c.627+1690T>A (n.627+1690T>A) c.531T>A (p.Asp177Glu) c.1T>A n.566+1690T>A c.135T>A (p.Asp45Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150750092T>A | CA342327265 | CTSS | c.707A>T (p.Asp236Val) c.479A>T (p.Asp160Val) c.434A>T (p.Asp145Val) c.557A>T (p.Asp186Val) c.627+1689A>T (n.627+1689A>T) c.530A>T (p.Asp177Val) n.566+1689A>T c.134A>T (p.Asp45Val) | |
| 1 | g.150750092T>C | CA342327268 | CTSS | c.707A>G (p.Asp236Gly) c.479A>G (p.Asp160Gly) c.434A>G (p.Asp145Gly) c.557A>G (p.Asp186Gly) c.627+1689A>G (n.627+1689A>G) c.530A>G (p.Asp177Gly) n.566+1689A>G c.134A>G (p.Asp45Gly) | |
| 1 | g.150750092T>G | CA342327270 | CTSS | c.707A>C (p.Asp236Ala) c.479A>C (p.Asp160Ala) c.434A>C (p.Asp145Ala) c.557A>C (p.Asp186Ala) c.627+1689A>C (n.627+1689A>C) c.530A>C (p.Asp177Ala) n.566+1689A>C c.134A>C (p.Asp45Ala) | |
| 1 | g.150750095_150750097del | CA2647833088 | CTSS | c.705_707del (p.Glu235del) c.477_479del (p.Glu159del) c.432_434del (p.Glu144del) c.555_557del (p.Glu185del) c.627+1687_627+1689del (n.627+1687_627+1689del) c.528_530del (p.Glu176del) n.566+1687_566+1689del c.132_134del (p.Glu44del) | gnomAD v4 |
| 1 | g.150750093C>A | CA342327273 | CTSS | c.706G>T (p.Asp236Tyr) c.478G>T (p.Asp160Tyr) c.433G>T (p.Asp145Tyr) c.556G>T (p.Asp186Tyr) c.627+1688G>T (n.627+1688G>T) c.529G>T (p.Asp177Tyr) n.566+1688G>T c.133G>T (p.Asp45Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750093C= | CA2479293036 | CTSS | c.706G= (p.Asp236=) c.478G= (p.Asp160=) c.433G= (p.Asp145=) c.556G= (p.Asp186=) c.627+1688G= (n.627+1688G=) c.529G= (p.Asp177=) n.566+1688G= c.133G= (p.Asp45=) | |
| 1 | g.150750093C>G | CA342327276 | CTSS | c.706G>C (p.Asp236His) c.478G>C (p.Asp160His) c.433G>C (p.Asp145His) c.556G>C (p.Asp186His) c.627+1688G>C (n.627+1688G>C) c.529G>C (p.Asp177His) n.566+1688G>C c.133G>C (p.Asp45His) | COSMIC |
| 1 | g.150750093C>T | CA342327278 | CTSS | c.706G>A (p.Asp236Asn) c.478G>A (p.Asp160Asn) c.433G>A (p.Asp145Asn) c.556G>A (p.Asp186Asn) c.627+1688G>A (n.627+1688G>A) c.529G>A (p.Asp177Asn) n.566+1688G>A c.133G>A (p.Asp45Asn) | |
| 1 | g.150750094T>A | CA342327281 | CTSS | c.705A>T (p.Glu235Asp) c.477A>T (p.Glu159Asp) c.432A>T (p.Glu144Asp) c.555A>T (p.Glu185Asp) c.627+1687A>T (n.627+1687A>T) c.528A>T (p.Glu176Asp) n.566+1687A>T c.132A>T (p.Glu44Asp) | |
| 1 | g.150750094T>C | CA420697819 | CTSS | c.705A>G (p.Glu235=) c.477A>G (p.Glu159=) c.432A>G (p.Glu144=) c.555A>G (p.Glu185=) c.627+1687A>G (n.627+1687A>G) c.528A>G (p.Glu176=) n.566+1687A>G c.132A>G (p.Glu44=) | |
| 1 | g.150750094T>G | CA342327282 | CTSS | c.705A>C (p.Glu235Asp) c.477A>C (p.Glu159Asp) c.432A>C (p.Glu144Asp) c.555A>C (p.Glu185Asp) c.627+1687A>C (n.627+1687A>C) c.528A>C (p.Glu176Asp) n.566+1687A>C c.132A>C (p.Glu44Asp) | |
| 1 | g.150750095T>A | CA342327286 | CTSS | c.704A>T (p.Glu235Val) c.476A>T (p.Glu159Val) c.431A>T (p.Glu144Val) c.554A>T (p.Glu185Val) c.627+1686A>T (n.627+1686A>T) c.527A>T (p.Glu176Val) n.566+1686A>T c.131A>T (p.Glu44Val) | |
| 1 | g.150750095T>C | CA342327287 | CTSS | c.704A>G (p.Glu235Gly) c.476A>G (p.Glu159Gly) c.431A>G (p.Glu144Gly) c.554A>G (p.Glu185Gly) c.627+1686A>G (n.627+1686A>G) c.527A>G (p.Glu176Gly) n.566+1686A>G c.131A>G (p.Glu44Gly) | dbSNP |
| 1 | g.150750095T>G | CA342327291 | CTSS | c.704A>C (p.Glu235Ala) c.476A>C (p.Glu159Ala) c.431A>C (p.Glu144Ala) c.554A>C (p.Glu185Ala) c.627+1686A>C (n.627+1686A>C) c.527A>C (p.Glu176Ala) n.566+1686A>C c.131A>C (p.Glu44Ala) | |
| 1 | g.150750095T= | CA2479293037 | CTSS | c.704A= (p.Glu235=) c.476A= (p.Glu159=) c.431A= (p.Glu144=) c.554A= (p.Glu185=) c.627+1686A= (n.627+1686A=) c.527A= (p.Glu176=) n.566+1686A= c.131A= (p.Glu44=) | |
| 1 | g.150750096C>A | CA342327298 | CTSS | c.703G>T (p.Glu235Ter) c.475G>T (p.Glu159Ter) c.430G>T (p.Glu144Ter) c.553G>T (p.Glu185Ter) c.627+1685G>T (n.627+1685G>T) c.526G>T (p.Glu176Ter) n.566+1685G>T c.130G>T (p.Glu44Ter) | |
| 1 | g.150750096C>G | CA342327300 | CTSS | c.703G>C (p.Glu235Gln) c.475G>C (p.Glu159Gln) c.430G>C (p.Glu144Gln) c.553G>C (p.Glu185Gln) c.627+1685G>C (n.627+1685G>C) c.526G>C (p.Glu176Gln) n.566+1685G>C c.130G>C (p.Glu44Gln) | |
| 1 | g.150750096C>T | CA342327294 | CTSS | c.703G>A (p.Glu235Lys) c.475G>A (p.Glu159Lys) c.430G>A (p.Glu144Lys) c.553G>A (p.Glu185Lys) c.627+1685G>A (n.627+1685G>A) c.526G>A (p.Glu176Lys) n.566+1685G>A c.130G>A (p.Glu44Lys) | |
| 1 | g.150750097T>A | CA342327302 | CTSS | c.702A>T (p.Arg234Ser) c.474A>T (p.Arg158Ser) c.429A>T (p.Arg143Ser) c.552A>T (p.Arg184Ser) c.627+1684A>T (n.627+1684A>T) c.525A>T (p.Arg175Ser) n.566+1684A>T c.129A>T (p.Arg43Ser) | |
| 1 | g.150750097T>C | CA420697824 | CTSS | c.702A>G (p.Arg234=) c.474A>G (p.Arg158=) c.429A>G (p.Arg143=) c.552A>G (p.Arg184=) c.627+1684A>G (n.627+1684A>G) c.525A>G (p.Arg175=) n.566+1684A>G c.129A>G (p.Arg43=) | |
| 1 | g.150750097T>G | CA342327304 | CTSS | c.702A>C (p.Arg234Ser) c.474A>C (p.Arg158Ser) c.429A>C (p.Arg143Ser) c.552A>C (p.Arg184Ser) c.627+1684A>C (n.627+1684A>C) c.525A>C (p.Arg175Ser) n.566+1684A>C c.129A>C (p.Arg43Ser) | |
| 1 | g.150750098C>A | CA342327307 | CTSS | c.701G>T (p.Arg234Ile) c.473G>T (p.Arg158Ile) c.428G>T (p.Arg143Ile) c.551G>T (p.Arg184Ile) c.627+1683G>T (n.627+1683G>T) c.524G>T (p.Arg175Ile) n.566+1683G>T c.128G>T (p.Arg43Ile) | |
| 1 | g.150750098C>G | CA342327309 | CTSS | c.701G>C (p.Arg234Thr) c.473G>C (p.Arg158Thr) c.428G>C (p.Arg143Thr) c.551G>C (p.Arg184Thr) c.627+1683G>C (n.627+1683G>C) c.524G>C (p.Arg175Thr) n.566+1683G>C c.128G>C (p.Arg43Thr) | |
| 1 | g.150750098C>T | CA342327311 | CTSS | c.701G>A (p.Arg234Lys) c.473G>A (p.Arg158Lys) c.428G>A (p.Arg143Lys) c.551G>A (p.Arg184Lys) c.627+1683G>A (n.627+1683G>A) c.524G>A (p.Arg175Lys) n.566+1683G>A c.128G>A (p.Arg43Lys) | |
| 1 | g.150750099T>A | CA342327314 | CTSS | c.700A>T (p.Arg234Ter) c.472A>T (p.Arg158Ter) c.427A>T (p.Arg143Ter) c.550A>T (p.Arg184Ter) c.627+1682A>T (n.627+1682A>T) c.523A>T (p.Arg175Ter) n.566+1682A>T c.127A>T (p.Arg43Ter) | |
| 1 | g.150750099T>C | CA342327316 | CTSS | c.700A>G (p.Arg234Gly) c.472A>G (p.Arg158Gly) c.427A>G (p.Arg143Gly) c.550A>G (p.Arg184Gly) c.627+1682A>G (n.627+1682A>G) c.523A>G (p.Arg175Gly) n.566+1682A>G c.127A>G (p.Arg43Gly) | |
| 1 | g.150750099T>G | CA420697825 | CTSS | c.700A>C (p.Arg234=) c.472A>C (p.Arg158=) c.427A>C (p.Arg143=) c.550A>C (p.Arg184=) c.627+1682A>C (n.627+1682A>C) c.523A>C (p.Arg175=) n.566+1682A>C c.127A>C (p.Arg43=) | |
| 1 | g.150750100G>A | CA1080226 | CTSS | c.699C>T (p.Gly233=) c.471C>T (p.Gly157=) c.426C>T (p.Gly142=) c.549C>T (p.Gly183=) c.627+1681C>T (n.627+1681C>T) c.522C>T (p.Gly174=) n.566+1681C>T c.126C>T (p.Gly42=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750100G>C | CA30106817 | CTSS | c.699C>G (p.Gly233=) c.471C>G (p.Gly157=) c.426C>G (p.Gly142=) c.549C>G (p.Gly183=) c.627+1681C>G (n.627+1681C>G) c.522C>G (p.Gly174=) n.566+1681C>G c.126C>G (p.Gly42=) | dbSNP |
| 1 | g.150750100G= | CA1139849291 | CTSS | c.699C= (p.Gly233=) c.471C= (p.Gly157=) c.426C= (p.Gly142=) c.549C= (p.Gly183=) c.627+1681C= (n.627+1681C=) c.522C= (p.Gly174=) n.566+1681C= c.126C= (p.Gly42=) | |
| 1 | g.150750100G>T | CA420697827 | CTSS | c.699C>A (p.Gly233=) c.471C>A (p.Gly157=) c.426C>A (p.Gly142=) c.549C>A (p.Gly183=) c.627+1681C>A (n.627+1681C>A) c.522C>A (p.Gly174=) n.566+1681C>A c.126C>A (p.Gly42=) | |
| 1 | g.150750101C>A | CA342327321 | CTSS | c.698G>T (p.Gly233Val) c.470G>T (p.Gly157Val) c.425G>T (p.Gly142Val) c.548G>T (p.Gly183Val) c.627+1680G>T (n.627+1680G>T) c.521G>T (p.Gly174Val) n.566+1680G>T c.125G>T (p.Gly42Val) | |
| 1 | g.150750101C= | CA2479293038 | CTSS | c.698G= (p.Gly233=) c.470G= (p.Gly157=) c.425G= (p.Gly142=) c.548G= (p.Gly183=) c.627+1680G= (n.627+1680G=) c.521G= (p.Gly174=) n.566+1680G= c.125G= (p.Gly42=) | |
| 1 | g.150750101C>G | CA342327325 | CTSS | c.698G>C (p.Gly233Ala) c.470G>C (p.Gly157Ala) c.425G>C (p.Gly142Ala) c.548G>C (p.Gly183Ala) c.627+1680G>C (n.627+1680G>C) c.521G>C (p.Gly174Ala) n.566+1680G>C c.125G>C (p.Gly42Ala) | |
| 1 | g.150750101C>T | CA30106819 | CTSS | c.698G>A (p.Gly233Asp) c.470G>A (p.Gly157Asp) c.425G>A (p.Gly142Asp) c.548G>A (p.Gly183Asp) c.627+1680G>A (n.627+1680G>A) c.521G>A (p.Gly174Asp) n.566+1680G>A c.125G>A (p.Gly42Asp) | dbSNP |
| 1 | g.150750102C>A | CA342327332 | CTSS | c.697G>T (p.Gly233Cys) c.469G>T (p.Gly157Cys) c.424G>T (p.Gly142Cys) c.547G>T (p.Gly183Cys) c.627+1679G>T (n.627+1679G>T) c.520G>T (p.Gly174Cys) n.566+1679G>T c.124G>T (p.Gly42Cys) | |
| 1 | g.150750102C>G | CA342327334 | CTSS | c.697G>C (p.Gly233Arg) c.469G>C (p.Gly157Arg) c.424G>C (p.Gly142Arg) c.547G>C (p.Gly183Arg) c.627+1679G>C (n.627+1679G>C) c.520G>C (p.Gly174Arg) n.566+1679G>C c.124G>C (p.Gly42Arg) | |
| 1 | g.150750102C>T | CA342327330 | CTSS | c.697G>A (p.Gly233Ser) c.469G>A (p.Gly157Ser) c.424G>A (p.Gly142Ser) c.547G>A (p.Gly183Ser) c.627+1679G>A (n.627+1679G>A) c.520G>A (p.Gly174Ser) n.566+1679G>A c.124G>A (p.Gly42Ser) | |
| 1 | g.150750103A= | CA2479293039 | CTSS | c.696T= (p.Tyr232=) c.468T= (p.Tyr156=) c.423T= (p.Tyr141=) c.546T= (p.Tyr182=) c.627+1678T= (n.627+1678T=) c.519T= (p.Tyr173=) n.566+1678T= c.123T= (p.Tyr41=) | |
| 1 | g.150750103A>C | CA342327337 | CTSS | c.696T>G (p.Tyr232Ter) c.468T>G (p.Tyr156Ter) c.423T>G (p.Tyr141Ter) c.546T>G (p.Tyr182Ter) c.627+1678T>G (n.627+1678T>G) c.519T>G (p.Tyr173Ter) n.566+1678T>G c.123T>G (p.Tyr41Ter) | |
| 1 | g.150750103A>G | CA30106847 | CTSS | c.696T>C (p.Tyr232=) c.468T>C (p.Tyr156=) c.423T>C (p.Tyr141=) c.546T>C (p.Tyr182=) c.627+1678T>C (n.627+1678T>C) c.519T>C (p.Tyr173=) n.566+1678T>C c.123T>C (p.Tyr41=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750103A>T | CA342327340 | CTSS | c.696T>A (p.Tyr232Ter) c.468T>A (p.Tyr156Ter) c.423T>A (p.Tyr141Ter) c.546T>A (p.Tyr182Ter) c.627+1678T>A (n.627+1678T>A) c.519T>A (p.Tyr173Ter) n.566+1678T>A c.123T>A (p.Tyr41Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750104T>A | CA342327343 | CTSS | c.695A>T (p.Tyr232Phe) c.467A>T (p.Tyr156Phe) c.422A>T (p.Tyr141Phe) c.545A>T (p.Tyr182Phe) c.627+1677A>T (n.627+1677A>T) c.518A>T (p.Tyr173Phe) n.566+1677A>T c.122A>T (p.Tyr41Phe) | |
| 1 | g.150750104T>C | CA342327345 | CTSS | c.695A>G (p.Tyr232Cys) c.467A>G (p.Tyr156Cys) c.422A>G (p.Tyr141Cys) c.545A>G (p.Tyr182Cys) c.627+1677A>G (n.627+1677A>G) c.518A>G (p.Tyr173Cys) n.566+1677A>G c.122A>G (p.Tyr41Cys) | |
| 1 | g.150750104T>G | CA342327348 | CTSS | c.695A>C (p.Tyr232Ser) c.467A>C (p.Tyr156Ser) c.422A>C (p.Tyr141Ser) c.545A>C (p.Tyr182Ser) c.627+1677A>C (n.627+1677A>C) c.518A>C (p.Tyr173Ser) n.566+1677A>C c.122A>C (p.Tyr41Ser) | |
| 1 | g.150750105A>C | CA342327353 | CTSS | c.694T>G (p.Tyr232Asp) c.466T>G (p.Tyr156Asp) c.421T>G (p.Tyr141Asp) c.544T>G (p.Tyr182Asp) c.627+1676T>G (n.627+1676T>G) c.517T>G (p.Tyr173Asp) n.566+1676T>G c.121T>G (p.Tyr41Asp) | |
| 1 | g.150750105A>G | CA342327350 | CTSS | c.694T>C (p.Tyr232His) c.466T>C (p.Tyr156His) c.421T>C (p.Tyr141His) c.544T>C (p.Tyr182His) c.627+1676T>C (n.627+1676T>C) c.517T>C (p.Tyr173His) n.566+1676T>C c.121T>C (p.Tyr41His) | |
| 1 | g.150750105A>T | CA342327352 | CTSS | c.694T>A (p.Tyr232Asn) c.466T>A (p.Tyr156Asn) c.421T>A (p.Tyr141Asn) c.544T>A (p.Tyr182Asn) c.627+1676T>A (n.627+1676T>A) c.517T>A (p.Tyr173Asn) n.566+1676T>A c.121T>A (p.Tyr41Asn) | |
| 1 | g.150750106A>C | CA420697830 | CTSS | c.693T>G (p.Pro231=) c.465T>G (p.Pro155=) c.420T>G (p.Pro140=) c.543T>G (p.Pro181=) c.627+1675T>G (n.627+1675T>G) c.516T>G (p.Pro172=) n.566+1675T>G c.120T>G (p.Pro40=) | |
| 1 | g.150750106A>G | CA420697832 | CTSS | c.693T>C (p.Pro231=) c.465T>C (p.Pro155=) c.420T>C (p.Pro140=) c.543T>C (p.Pro181=) c.627+1675T>C (n.627+1675T>C) c.516T>C (p.Pro172=) n.566+1675T>C c.120T>C (p.Pro40=) | |
| 1 | g.150750106A>T | CA420697834 | CTSS | c.693T>A (p.Pro231=) c.465T>A (p.Pro155=) c.420T>A (p.Pro140=) c.543T>A (p.Pro181=) c.627+1675T>A (n.627+1675T>A) c.516T>A (p.Pro172=) n.566+1675T>A c.120T>A (p.Pro40=) | |
| 1 | g.150750107G>A | CA342327357 | CTSS | c.692C>T (p.Pro231Leu) c.464C>T (p.Pro155Leu) c.419C>T (p.Pro140Leu) c.542C>T (p.Pro181Leu) c.627+1674C>T (n.627+1674C>T) c.515C>T (p.Pro172Leu) n.566+1674C>T c.119C>T (p.Pro40Leu) | |
| 1 | g.150750107G>C | CA342327360 | CTSS | c.692C>G (p.Pro231Arg) c.464C>G (p.Pro155Arg) c.419C>G (p.Pro140Arg) c.542C>G (p.Pro181Arg) c.627+1674C>G (n.627+1674C>G) c.515C>G (p.Pro172Arg) n.566+1674C>G c.119C>G (p.Pro40Arg) | gnomAD v4 |
| 1 | g.150750107G>T | CA342327363 | CTSS | c.692C>A (p.Pro231His) c.464C>A (p.Pro155His) c.419C>A (p.Pro140His) c.542C>A (p.Pro181His) c.627+1674C>A (n.627+1674C>A) c.515C>A (p.Pro172His) n.566+1674C>A c.119C>A (p.Pro40His) | |
| 1 | g.150750108G>A | CA30106860 | CTSS | c.691C>T (p.Pro231Ser) c.463C>T (p.Pro155Ser) c.418C>T (p.Pro140Ser) c.541C>T (p.Pro181Ser) c.627+1673C>T (n.627+1673C>T) c.514C>T (p.Pro172Ser) n.566+1673C>T c.118C>T (p.Pro40Ser) | dbSNP |
| 1 | g.150750108G>C | CA342327366 | CTSS | c.691C>G (p.Pro231Ala) c.463C>G (p.Pro155Ala) c.418C>G (p.Pro140Ala) c.541C>G (p.Pro181Ala) c.627+1673C>G (n.627+1673C>G) c.514C>G (p.Pro172Ala) n.566+1673C>G c.118C>G (p.Pro40Ala) | |
| 1 | g.150750108G= | CA2479293040 | CTSS | c.691C= (p.Pro231=) c.463C= (p.Pro155=) c.418C= (p.Pro140=) c.541C= (p.Pro181=) c.627+1673C= (n.627+1673C=) c.514C= (p.Pro172=) n.566+1673C= c.118C= (p.Pro40=) | |
| 1 | g.150750108G>T | CA342327368 | CTSS | c.691C>A (p.Pro231Thr) c.463C>A (p.Pro155Thr) c.418C>A (p.Pro140Thr) c.541C>A (p.Pro181Thr) c.627+1673C>A (n.627+1673C>A) c.514C>A (p.Pro172Thr) n.566+1673C>A c.118C>A (p.Pro40Thr) | |
| 1 | g.150750109A>C | CA420697835 | CTSS | c.690T>G (p.Leu230=) c.462T>G (p.Leu154=) c.417T>G (p.Leu139=) c.540T>G (p.Leu180=) c.627+1672T>G (n.627+1672T>G) c.513T>G (p.Leu171=) n.566+1672T>G c.117T>G (p.Leu39=) | |
| 1 | g.150750109A>G | CA420697836 | CTSS | c.690T>C (p.Leu230=) c.462T>C (p.Leu154=) c.417T>C (p.Leu139=) c.540T>C (p.Leu180=) c.627+1672T>C (n.627+1672T>C) c.513T>C (p.Leu171=) n.566+1672T>C c.117T>C (p.Leu39=) | |
| 1 | g.150750109A>T | CA420697837 | CTSS | c.690T>A (p.Leu230=) c.462T>A (p.Leu154=) c.417T>A (p.Leu139=) c.540T>A (p.Leu180=) c.627+1672T>A (n.627+1672T>A) c.513T>A (p.Leu171=) n.566+1672T>A c.117T>A (p.Leu39=) | |
| 1 | g.150750110A= | CA1142166734 | CTSS | c.689T= (p.Leu230=) c.461T= (p.Leu154=) c.416T= (p.Leu139=) c.539T= (p.Leu180=) c.627+1671T= (n.627+1671T=) c.512T= (p.Leu171=) n.566+1671T= c.116T= (p.Leu39=) | |
| 1 | g.150750110A>C | CA342327374 | CTSS | c.689T>G (p.Leu230Arg) c.461T>G (p.Leu154Arg) c.416T>G (p.Leu139Arg) c.539T>G (p.Leu180Arg) c.627+1671T>G (n.627+1671T>G) c.512T>G (p.Leu171Arg) n.566+1671T>G c.116T>G (p.Leu39Arg) | |
| 1 | g.150750110A>G | CA30106874 | CTSS | c.689T>C (p.Leu230Pro) c.461T>C (p.Leu154Pro) c.416T>C (p.Leu139Pro) c.539T>C (p.Leu180Pro) c.627+1671T>C (n.627+1671T>C) c.512T>C (p.Leu171Pro) n.566+1671T>C c.116T>C (p.Leu39Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750110A>T | CA342327372 | CTSS | c.689T>A (p.Leu230His) c.461T>A (p.Leu154His) c.416T>A (p.Leu139His) c.539T>A (p.Leu180His) c.627+1671T>A (n.627+1671T>A) c.512T>A (p.Leu171His) n.566+1671T>A c.116T>A (p.Leu39His) | |
| 1 | g.150750111G>A | CA342327379 | CTSS | c.688C>T (p.Leu230Phe) c.460C>T (p.Leu154Phe) c.415C>T (p.Leu139Phe) c.538C>T (p.Leu180Phe) c.627+1670C>T (n.627+1670C>T) c.511C>T (p.Leu171Phe) n.566+1670C>T c.115C>T (p.Leu39Phe) | |
| 1 | g.150750111G>C | CA342327377 | CTSS | c.688C>G (p.Leu230Val) c.460C>G (p.Leu154Val) c.415C>G (p.Leu139Val) c.538C>G (p.Leu180Val) c.627+1670C>G (n.627+1670C>G) c.511C>G (p.Leu171Val) n.566+1670C>G c.115C>G (p.Leu39Val) | |
| 1 | g.150750111G>T | CA342327380 | CTSS | c.688C>A (p.Leu230Ile) c.460C>A (p.Leu154Ile) c.415C>A (p.Leu139Ile) c.538C>A (p.Leu180Ile) c.627+1670C>A (n.627+1670C>A) c.511C>A (p.Leu171Ile) n.566+1670C>A c.115C>A (p.Leu39Ile) | |
| 1 | g.150750112T>A | CA342327383 | CTSS | c.687A>T (p.Glu229Asp) c.459A>T (p.Glu153Asp) c.414A>T (p.Glu138Asp) c.537A>T (p.Glu179Asp) c.627+1669A>T (n.627+1669A>T) c.510A>T (p.Glu170Asp) n.566+1669A>T c.114A>T (p.Glu38Asp) | |
| 1 | g.150750112T>C | CA420697840 | CTSS | c.687A>G (p.Glu229=) c.459A>G (p.Glu153=) c.414A>G (p.Glu138=) c.537A>G (p.Glu179=) c.627+1669A>G (n.627+1669A>G) c.510A>G (p.Glu170=) n.566+1669A>G c.114A>G (p.Glu38=) | COSMIC |
| 1 | g.150750112T>G | CA342327386 | CTSS | c.687A>C (p.Glu229Asp) c.459A>C (p.Glu153Asp) c.414A>C (p.Glu138Asp) c.537A>C (p.Glu179Asp) c.627+1669A>C (n.627+1669A>C) c.510A>C (p.Glu170Asp) n.566+1669A>C c.114A>C (p.Glu38Asp) | |
| 1 | g.150750113T>A | CA342327390 | CTSS | c.686A>T (p.Glu229Val) c.458A>T (p.Glu153Val) c.413A>T (p.Glu138Val) c.536A>T (p.Glu179Val) c.627+1668A>T (n.627+1668A>T) c.509A>T (p.Glu170Val) n.566+1668A>T c.113A>T (p.Glu38Val) | |
| 1 | g.150750113T>C | CA342327391 | CTSS | c.686A>G (p.Glu229Gly) c.458A>G (p.Glu153Gly) c.413A>G (p.Glu138Gly) c.536A>G (p.Glu179Gly) c.627+1668A>G (n.627+1668A>G) c.509A>G (p.Glu170Gly) n.566+1668A>G c.113A>G (p.Glu38Gly) | gnomAD v4 |
| 1 | g.150750113T>G | CA342327392 | CTSS | c.686A>C (p.Glu229Ala) c.458A>C (p.Glu153Ala) c.413A>C (p.Glu138Ala) c.536A>C (p.Glu179Ala) c.627+1668A>C (n.627+1668A>C) c.509A>C (p.Glu170Ala) n.566+1668A>C c.113A>C (p.Glu38Ala) | |
| 1 | g.150750114C>A | CA342327395 | CTSS | c.685G>T (p.Glu229Ter) c.457G>T (p.Glu153Ter) c.412G>T (p.Glu138Ter) c.535G>T (p.Glu179Ter) c.627+1667G>T (n.627+1667G>T) c.508G>T (p.Glu170Ter) n.566+1667G>T c.112G>T (p.Glu38Ter) | |
| 1 | g.150750114C>G | CA342327397 | CTSS | c.685G>C (p.Glu229Gln) c.457G>C (p.Glu153Gln) c.412G>C (p.Glu138Gln) c.535G>C (p.Glu179Gln) c.627+1667G>C (n.627+1667G>C) c.508G>C (p.Glu170Gln) n.566+1667G>C c.112G>C (p.Glu38Gln) | |
| 1 | g.150750114C>T | CA342327400 | CTSS | c.685G>A (p.Glu229Lys) c.457G>A (p.Glu153Lys) c.412G>A (p.Glu138Lys) c.535G>A (p.Glu179Lys) c.627+1667G>A (n.627+1667G>A) c.508G>A (p.Glu170Lys) n.566+1667G>A c.112G>A (p.Glu38Lys) | gnomAD v4 |
| 1 | g.150750115A= | CA2479293041 | CTSS | c.684T= (p.Thr228=) c.456T= (p.Thr152=) c.411T= (p.Thr137=) c.534T= (p.Thr178=) c.627+1666T= (n.627+1666T=) c.507T= (p.Thr169=) n.566+1666T= c.111T= (p.Thr37=) | |
| 1 | g.150750115A>C | CA420697845 | CTSS | c.684T>G (p.Thr228=) c.456T>G (p.Thr152=) c.411T>G (p.Thr137=) c.534T>G (p.Thr178=) c.627+1666T>G (n.627+1666T>G) c.507T>G (p.Thr169=) n.566+1666T>G c.111T>G (p.Thr37=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750115A>G | CA420697843 | CTSS | c.684T>C (p.Thr228=) c.456T>C (p.Thr152=) c.411T>C (p.Thr137=) c.534T>C (p.Thr178=) c.627+1666T>C (n.627+1666T>C) c.507T>C (p.Thr169=) n.566+1666T>C c.111T>C (p.Thr37=) | |
| 1 | g.150750115A>T | CA420697844 | CTSS | c.684T>A (p.Thr228=) c.456T>A (p.Thr152=) c.411T>A (p.Thr137=) c.534T>A (p.Thr178=) c.627+1666T>A (n.627+1666T>A) c.507T>A (p.Thr169=) n.566+1666T>A c.111T>A (p.Thr37=) | |
| 1 | g.150750116G>A | CA342327402 | CTSS | c.683C>T (p.Thr228Ile) c.455C>T (p.Thr152Ile) c.410C>T (p.Thr137Ile) c.533C>T (p.Thr178Ile) c.627+1665C>T (n.627+1665C>T) c.506C>T (p.Thr169Ile) n.566+1665C>T c.110C>T (p.Thr37Ile) | COSMIC |
| 1 | g.150750116G>C | CA342327404 | CTSS | c.683C>G (p.Thr228Ser) c.455C>G (p.Thr152Ser) c.410C>G (p.Thr137Ser) c.533C>G (p.Thr178Ser) c.627+1665C>G (n.627+1665C>G) c.506C>G (p.Thr169Ser) n.566+1665C>G c.110C>G (p.Thr37Ser) | |
| 1 | g.150750116G>T | CA342327407 | CTSS | c.683C>A (p.Thr228Asn) c.455C>A (p.Thr152Asn) c.410C>A (p.Thr137Asn) c.533C>A (p.Thr178Asn) c.627+1665C>A (n.627+1665C>A) c.506C>A (p.Thr169Asn) n.566+1665C>A c.110C>A (p.Thr37Asn) |