Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122275896A>C | CA354155124 | CASR | c.1378-6217A>C (n.1378-6217A>C) c.1462A>C (p.Asn488His) c.979A>C (p.Asn327His) c.874A>C (p.Asn292His) | |
3 | g.122275896A>G | CA354155126 | CASR | c.1378-6217A>G (n.1378-6217A>G) c.1462A>G (p.Asn488Asp) c.979A>G (p.Asn327Asp) c.874A>G (p.Asn292Asp) | |
3 | g.122275896A>T | CA354155128 | CASR | c.1378-6217A>T (n.1378-6217A>T) c.1462A>T (p.Asn488Tyr) c.979A>T (p.Asn327Tyr) c.874A>T (p.Asn292Tyr) | |
3 | g.122275897A= | CA1397883128 | CASR | c.1378-6216A= (n.1378-6216A=) c.1463A= (p.Asn488=) c.980A= (p.Asn327=) c.875A= (p.Asn292=) | |
3 | g.122275897A>C | CA354155129 | CASR | c.1378-6216A>C (n.1378-6216A>C) c.1463A>C (p.Asn488Thr) c.980A>C (p.Asn327Thr) c.875A>C (p.Asn292Thr) | |
3 | g.122275897A>G | CA2569664 | CASR | c.1378-6216A>G (n.1378-6216A>G) c.1463A>G (p.Asn488Ser) c.980A>G (p.Asn327Ser) c.875A>G (p.Asn292Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275897A>T | CA354155131 | CASR | c.1378-6216A>T (n.1378-6216A>T) c.1463A>T (p.Asn488Ile) c.980A>T (p.Asn327Ile) c.875A>T (p.Asn292Ile) | ClinVar dbSNP |
3 | g.122275898C>A | CA354155133 | CASR | c.1378-6215C>A (n.1378-6215C>A) c.1464C>A (p.Asn488Lys) c.981C>A (p.Asn327Lys) c.876C>A (p.Asn292Lys) | |
3 | g.122275898C>G | CA354155135 | CASR | c.1378-6215C>G (n.1378-6215C>G) c.1464C>G (p.Asn488Lys) c.981C>G (p.Asn327Lys) c.876C>G (p.Asn292Lys) | |
3 | g.122275898C>T | CA435424906 | CASR | c.1378-6215C>T (n.1378-6215C>T) c.1464C>T (p.Asn488=) c.981C>T (p.Asn327=) c.876C>T (p.Asn292=) | ClinVar |
3 | g.122275899T>A | CA354155137 | CASR | c.1378-6214T>A (n.1378-6214T>A) c.1465T>A (p.Tyr489Asn) c.982T>A (p.Tyr328Asn) c.877T>A (p.Tyr293Asn) | |
3 | g.122275899T>C | CA354155139 | CASR | c.1378-6214T>C (n.1378-6214T>C) c.1465T>C (p.Tyr489His) c.982T>C (p.Tyr328His) c.877T>C (p.Tyr293His) | ClinVar |
3 | g.122275899T>G | CA354155141 | CASR | c.1378-6214T>G (n.1378-6214T>G) c.1465T>G (p.Tyr489Asp) c.982T>G (p.Tyr328Asp) c.877T>G (p.Tyr293Asp) | |
3 | g.122275900A= | CA1397883129 | CASR | c.1378-6213A= (n.1378-6213A=) c.1466A= (p.Tyr489=) c.983A= (p.Tyr328=) c.878A= (p.Tyr293=) | |
3 | g.122275900A>C | CA354155146 | CASR | c.1378-6213A>C (n.1378-6213A>C) c.1466A>C (p.Tyr489Ser) c.983A>C (p.Tyr328Ser) c.878A>C (p.Tyr293Ser) | |
3 | g.122275900A>G | CA354155147 | CASR | c.1378-6213A>G (n.1378-6213A>G) c.1466A>G (p.Tyr489Cys) c.983A>G (p.Tyr328Cys) c.878A>G (p.Tyr293Cys) | ClinVar dbSNP |
3 | g.122275900A>T | CA354155143 | CASR | c.1378-6213A>T (n.1378-6213A>T) c.1466A>T (p.Tyr489Phe) c.983A>T (p.Tyr328Phe) c.878A>T (p.Tyr293Phe) | |
3 | g.122275901T>A | CA354155151 | CASR | c.1378-6212T>A (n.1378-6212T>A) c.1467T>A (p.Tyr489Ter) c.984T>A (p.Tyr328Ter) c.879T>A (p.Tyr293Ter) | |
3 | g.122275901T>C | CA435424907 | CASR | c.1378-6212T>C (n.1378-6212T>C) c.1467T>C (p.Tyr489=) c.984T>C (p.Tyr328=) c.879T>C (p.Tyr293=) | ClinVar dbSNP |
3 | g.122275901T>G | CA354155149 | CASR | c.1378-6212T>G (n.1378-6212T>G) c.1467T>G (p.Tyr489Ter) c.984T>G (p.Tyr328Ter) c.879T>G (p.Tyr293Ter) | |
3 | g.122275901T= | CA1397883130 | CASR | c.1378-6212T= (n.1378-6212T=) c.1467T= (p.Tyr489=) c.984T= (p.Tyr328=) c.879T= (p.Tyr293=) | |
3 | g.122275902T>A | CA354155153 | CASR | c.1378-6211T>A (n.1378-6211T>A) c.1468T>A (p.Ser490Thr) c.985T>A (p.Ser329Thr) c.880T>A (p.Ser294Thr) | |
3 | g.122275902T>C | CA354155155 | CASR | c.1378-6211T>C (n.1378-6211T>C) c.1468T>C (p.Ser490Pro) c.985T>C (p.Ser329Pro) c.880T>C (p.Ser294Pro) | gnomAD v4 |
3 | g.122275902T>G | CA354155157 | CASR | c.1378-6211T>G (n.1378-6211T>G) c.1468T>G (p.Ser490Ala) c.985T>G (p.Ser329Ala) c.880T>G (p.Ser294Ala) | |
3 | g.122275903C>A | CA354155159 | CASR | c.1378-6210C>A (n.1378-6210C>A) c.1469C>A (p.Ser490Tyr) c.986C>A (p.Ser329Tyr) c.881C>A (p.Ser294Tyr) | |
3 | g.122275903C= | CA1397883131 | CASR | c.1378-6210C= (n.1378-6210C=) c.1469C= (p.Ser490=) c.986C= (p.Ser329=) c.881C= (p.Ser294=) | |
3 | g.122275903C>G | CA354155161 | CASR | c.1378-6210C>G (n.1378-6210C>G) c.1469C>G (p.Ser490Cys) c.986C>G (p.Ser329Cys) c.881C>G (p.Ser294Cys) | |
3 | g.122275903C>T | CA82745953 | CASR | c.1378-6210C>T (n.1378-6210C>T) c.1469C>T (p.Ser490Phe) c.986C>T (p.Ser329Phe) c.881C>T (p.Ser294Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122275904C>A | CA435424908 | CASR | c.1378-6209C>A (n.1378-6209C>A) c.1470C>A (p.Ser490=) c.987C>A (p.Ser329=) c.882C>A (p.Ser294=) | |
3 | g.122275904C>G | CA435424909 | CASR | c.1378-6209C>G (n.1378-6209C>G) c.1470C>G (p.Ser490=) c.987C>G (p.Ser329=) c.882C>G (p.Ser294=) | |
3 | g.122275904C>T | CA435424913 | CASR | c.1378-6209C>T (n.1378-6209C>T) c.1470C>T (p.Ser490=) c.987C>T (p.Ser329=) c.882C>T (p.Ser294=) | |
3 | g.122275905A= | CA1397883132 | CASR | c.1378-6208A= (n.1378-6208A=) c.1471A= (p.Ile491=) c.988A= (p.Ile330=) c.883A= (p.Ile295=) | |
3 | g.122275905A>C | CA354155164 | CASR | c.1378-6208A>C (n.1378-6208A>C) c.1471A>C (p.Ile491Leu) c.988A>C (p.Ile330Leu) c.883A>C (p.Ile295Leu) | |
3 | g.122275905A>G | CA2569665 | CASR | c.1378-6208A>G (n.1378-6208A>G) c.1471A>G (p.Ile491Val) c.988A>G (p.Ile330Val) c.883A>G (p.Ile295Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122275905A>T | CA354155166 | CASR | c.1378-6208A>T (n.1378-6208A>T) c.1471A>T (p.Ile491Phe) c.988A>T (p.Ile330Phe) c.883A>T (p.Ile295Phe) | |
3 | g.122275906T>A | CA354155168 | CASR | c.1378-6207T>A (n.1378-6207T>A) c.1472T>A (p.Ile491Asn) c.989T>A (p.Ile330Asn) c.884T>A (p.Ile295Asn) | |
3 | g.122275906T>C | CA354155169 | CASR | c.1378-6207T>C (n.1378-6207T>C) c.1472T>C (p.Ile491Thr) c.989T>C (p.Ile330Thr) c.884T>C (p.Ile295Thr) | |
3 | g.122275906T>G | CA354155170 | CASR | c.1378-6207T>G (n.1378-6207T>G) c.1472T>G (p.Ile491Ser) c.989T>G (p.Ile330Ser) c.884T>G (p.Ile295Ser) | |
3 | g.122275907C>A | CA435424917 | CASR | c.1378-6206C>A (n.1378-6206C>A) c.1473C>A (p.Ile491=) c.990C>A (p.Ile330=) c.885C>A (p.Ile295=) | |
3 | g.122275907C>G | CA354155171 | CASR | c.1378-6206C>G (n.1378-6206C>G) c.1473C>G (p.Ile491Met) c.990C>G (p.Ile330Met) c.885C>G (p.Ile295Met) | |
3 | g.122275907C>T | CA435424918 | CASR | c.1378-6206C>T (n.1378-6206C>T) c.1473C>T (p.Ile491=) c.990C>T (p.Ile330=) c.885C>T (p.Ile295=) | |
3 | g.122275908A>C | CA354155172 | CASR | c.1378-6205A>C (n.1378-6205A>C) c.1474A>C (p.Ile492Leu) c.991A>C (p.Ile331Leu) c.886A>C (p.Ile296Leu) | |
3 | g.122275908A>G | CA354155174 | CASR | c.1378-6205A>G (n.1378-6205A>G) c.1474A>G (p.Ile492Val) c.991A>G (p.Ile331Val) c.886A>G (p.Ile296Val) | |
3 | g.122275908A>T | CA354155173 | CASR | c.1378-6205A>T (n.1378-6205A>T) c.1474A>T (p.Ile492Phe) c.991A>T (p.Ile331Phe) c.886A>T (p.Ile296Phe) | |
3 | g.122275909T>A | CA354155175 | CASR | c.1378-6204T>A (n.1378-6204T>A) c.1475T>A (p.Ile492Asn) c.992T>A (p.Ile331Asn) c.887T>A (p.Ile296Asn) | |
3 | g.122275909T>C | CA354155176 | CASR | c.1378-6204T>C (n.1378-6204T>C) c.1475T>C (p.Ile492Thr) c.992T>C (p.Ile331Thr) c.887T>C (p.Ile296Thr) | |
3 | g.122275909T>G | CA354155177 | CASR | c.1378-6204T>G (n.1378-6204T>G) c.1475T>G (p.Ile492Ser) c.992T>G (p.Ile331Ser) c.887T>G (p.Ile296Ser) | |
3 | g.122275910C>A | CA435424923 | CASR | c.1378-6203C>A (n.1378-6203C>A) c.1476C>A (p.Ile492=) c.993C>A (p.Ile331=) c.888C>A (p.Ile296=) | |
3 | g.122275910C= | CA1397883133 | CASR | c.1378-6203C= (n.1378-6203C=) c.1476C= (p.Ile492=) c.993C= (p.Ile331=) c.888C= (p.Ile296=) | |
3 | g.122275910C>G | CA354155178 | CASR | c.1378-6203C>G (n.1378-6203C>G) c.1476C>G (p.Ile492Met) c.993C>G (p.Ile331Met) c.888C>G (p.Ile296Met) | |
3 | g.122275910C>T | CA435424926 | CASR | c.1378-6203C>T (n.1378-6203C>T) c.1476C>T (p.Ile492=) c.993C>T (p.Ile331=) c.888C>T (p.Ile296=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275911A>C | CA354155179 | CASR | c.1378-6202A>C (n.1378-6202A>C) c.1477A>C (p.Asn493His) c.994A>C (p.Asn332His) c.889A>C (p.Asn297His) | |
3 | g.122275911A>G | CA354155180 | CASR | c.1378-6202A>G (n.1378-6202A>G) c.1477A>G (p.Asn493Asp) c.994A>G (p.Asn332Asp) c.889A>G (p.Asn297Asp) | |
3 | g.122275911A>T | CA354155181 | CASR | c.1378-6202A>T (n.1378-6202A>T) c.1477A>T (p.Asn493Tyr) c.994A>T (p.Asn332Tyr) c.889A>T (p.Asn297Tyr) | |
3 | g.122275912A= | CA1397883134 | CASR | c.1378-6201A= (n.1378-6201A=) c.1478A= (p.Asn493=) c.995A= (p.Asn332=) c.890A= (p.Asn297=) | |
3 | g.122275912A>C | CA354155182 | CASR | c.1378-6201A>C (n.1378-6201A>C) c.1478A>C (p.Asn493Thr) c.995A>C (p.Asn332Thr) c.890A>C (p.Asn297Thr) | ClinVar dbSNP |
3 | g.122275912A>G | CA16611092 | CASR | c.1378-6201A>G (n.1378-6201A>G) c.1478A>G (p.Asn493Ser) c.995A>G (p.Asn332Ser) c.890A>G (p.Asn297Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275912A>T | CA354155183 | CASR | c.1378-6201A>T (n.1378-6201A>T) c.1478A>T (p.Asn493Ile) c.995A>T (p.Asn332Ile) c.890A>T (p.Asn297Ile) | gnomAD v4 |
3 | g.122275913C>A | CA354155185 | CASR | c.1378-6200C>A (n.1378-6200C>A) c.1479C>A (p.Asn493Lys) c.996C>A (p.Asn332Lys) c.891C>A (p.Asn297Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275913C= | CA1397883135 | CASR | c.1378-6200C= (n.1378-6200C=) c.1479C= (p.Asn493=) c.996C= (p.Asn332=) c.891C= (p.Asn297=) | |
3 | g.122275913C>G | CA354155184 | CASR | c.1378-6200C>G (n.1378-6200C>G) c.1479C>G (p.Asn493Lys) c.996C>G (p.Asn332Lys) c.891C>G (p.Asn297Lys) | gnomAD v4 |
3 | g.122275913C>T | CA82745962 | CASR | c.1378-6200C>T (n.1378-6200C>T) c.1479C>T (p.Asn493=) c.996C>T (p.Asn332=) c.891C>T (p.Asn297=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275914T>A | CA354155186 | CASR | c.1378-6199T>A (n.1378-6199T>A) c.1480T>A (p.Trp494Arg) c.997T>A (p.Trp333Arg) c.892T>A (p.Trp298Arg) | |
3 | g.122275914T>C | CA354155187 | CASR | c.1378-6199T>C (n.1378-6199T>C) c.1480T>C (p.Trp494Arg) c.997T>C (p.Trp333Arg) c.892T>C (p.Trp298Arg) | |
3 | g.122275914T>G | CA354155188 | CASR | c.1378-6199T>G (n.1378-6199T>G) c.1480T>G (p.Trp494Gly) c.997T>G (p.Trp333Gly) c.892T>G (p.Trp298Gly) | |
3 | g.122275915G>A | CA354155189 | CASR | c.1378-6198G>A (n.1378-6198G>A) c.1481G>A (p.Trp494Ter) c.998G>A (p.Trp333Ter) c.893G>A (p.Trp298Ter) | |
3 | g.122275915G>C | CA354155190 | CASR | c.1378-6198G>C (n.1378-6198G>C) c.1481G>C (p.Trp494Ser) c.998G>C (p.Trp333Ser) c.893G>C (p.Trp298Ser) | |
3 | g.122275915G>T | CA354155191 | CASR | c.1378-6198G>T (n.1378-6198G>T) c.1481G>T (p.Trp494Leu) c.998G>T (p.Trp333Leu) c.893G>T (p.Trp298Leu) | |
3 | g.122275916G>A | CA354155192 | CASR | c.1378-6197G>A (n.1378-6197G>A) c.1482G>A (p.Trp494Ter) c.999G>A (p.Trp333Ter) c.894G>A (p.Trp298Ter) | gnomAD v4 |
3 | g.122275916G>C | CA354155193 | CASR | c.1378-6197G>C (n.1378-6197G>C) c.1482G>C (p.Trp494Cys) c.999G>C (p.Trp333Cys) c.894G>C (p.Trp298Cys) | |
3 | g.122275916G>T | CA354155194 | CASR | c.1378-6197G>T (n.1378-6197G>T) c.1482G>T (p.Trp494Cys) c.999G>T (p.Trp333Cys) c.894G>T (p.Trp298Cys) | |
3 | g.122275917C>A | CA354155195 | CASR | c.1378-6196C>A (n.1378-6196C>A) c.1483C>A (p.His495Asn) c.1000C>A (p.His334Asn) c.895C>A (p.His299Asn) | |
3 | g.122275917C>G | CA354155196 | CASR | c.1378-6196C>G (n.1378-6196C>G) c.1483C>G (p.His495Asp) c.1000C>G (p.His334Asp) c.895C>G (p.His299Asp) | |
3 | g.122275917C>T | CA354155197 | CASR | c.1378-6196C>T (n.1378-6196C>T) c.1483C>T (p.His495Tyr) c.1000C>T (p.His334Tyr) c.895C>T (p.His299Tyr) | ClinVar |
3 | g.122275918A>C | CA354155199 | CASR | c.1378-6195A>C (n.1378-6195A>C) c.1484A>C (p.His495Pro) c.1001A>C (p.His334Pro) c.896A>C (p.His299Pro) | |
3 | g.122275918A>G | CA354155200 | CASR | c.1378-6195A>G (n.1378-6195A>G) c.1484A>G (p.His495Arg) c.1001A>G (p.His334Arg) c.896A>G (p.His299Arg) | |
3 | g.122275918A>T | CA354155198 | CASR | c.1378-6195A>T (n.1378-6195A>T) c.1484A>T (p.His495Leu) c.1001A>T (p.His334Leu) c.896A>T (p.His299Leu) | |
3 | g.122275919C>A | CA354155201 | CASR | c.1378-6194C>A (n.1378-6194C>A) c.1485C>A (p.His495Gln) c.1002C>A (p.His334Gln) c.897C>A (p.His299Gln) | |
3 | g.122275919C>G | CA354155202 | CASR | c.1378-6194C>G (n.1378-6194C>G) c.1485C>G (p.His495Gln) c.1002C>G (p.His334Gln) c.897C>G (p.His299Gln) | |
3 | g.122275919C>T | CA435424950 | CASR | c.1378-6194C>T (n.1378-6194C>T) c.1485C>T (p.His495=) c.1002C>T (p.His334=) c.897C>T (p.His299=) | |
3 | g.122275920C>A | CA354155203 | CASR | c.1378-6193C>A (n.1378-6193C>A) c.1486C>A (p.Leu496Ile) c.1003C>A (p.Leu335Ile) c.898C>A (p.Leu300Ile) | |
3 | g.122275920C= | CA1397883136 | CASR | c.1378-6193C= (n.1378-6193C=) c.1486C= (p.Leu496=) c.1003C= (p.Leu335=) c.898C= (p.Leu300=) | |
3 | g.122275920C>G | CA354155204 | CASR | c.1378-6193C>G (n.1378-6193C>G) c.1486C>G (p.Leu496Val) c.1003C>G (p.Leu335Val) c.898C>G (p.Leu300Val) | |
3 | g.122275920C>T | CA2569666 | CASR | c.1378-6193C>T (n.1378-6193C>T) c.1486C>T (p.Leu496Phe) c.1003C>T (p.Leu335Phe) c.898C>T (p.Leu300Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275921T>A | CA354155207 | CASR | c.1378-6192T>A (n.1378-6192T>A) c.1487T>A (p.Leu496His) c.1004T>A (p.Leu335His) c.899T>A (p.Leu300His) | |
3 | g.122275921T>C | CA354155205 | CASR | c.1378-6192T>C (n.1378-6192T>C) c.1487T>C (p.Leu496Pro) c.1004T>C (p.Leu335Pro) c.899T>C (p.Leu300Pro) | ClinVar dbSNP |
3 | g.122275921T>G | CA354155206 | CASR | c.1378-6192T>G (n.1378-6192T>G) c.1487T>G (p.Leu496Arg) c.1004T>G (p.Leu335Arg) c.899T>G (p.Leu300Arg) | |
3 | g.122275922C>A | CA435424955 | CASR | c.1378-6191C>A (n.1378-6191C>A) c.1488C>A (p.Leu496=) c.1005C>A (p.Leu335=) c.900C>A (p.Leu300=) | gnomAD v4 |
3 | g.122275922C= | CA1397883137 | CASR | c.1378-6191C= (n.1378-6191C=) c.1488C= (p.Leu496=) c.1005C= (p.Leu335=) c.900C= (p.Leu300=) | |
3 | g.122275922C>G | CA435424954 | CASR | c.1378-6191C>G (n.1378-6191C>G) c.1488C>G (p.Leu496=) c.1005C>G (p.Leu335=) c.900C>G (p.Leu300=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275922C>T | CA435424953 | CASR | c.1378-6191C>T (n.1378-6191C>T) c.1488C>T (p.Leu496=) c.1005C>T (p.Leu335=) c.900C>T (p.Leu300=) | ClinVar gnomAD v4 |
3 | g.122275923T>A | CA354155208 | CASR | c.1378-6190T>A (n.1378-6190T>A) c.1489T>A (p.Ser497Thr) c.1006T>A (p.Ser336Thr) c.901T>A (p.Ser301Thr) | |
3 | g.122275923T>C | CA354155209 | CASR | c.1378-6190T>C (n.1378-6190T>C) c.1489T>C (p.Ser497Pro) c.1006T>C (p.Ser336Pro) c.901T>C (p.Ser301Pro) | |
3 | g.122275923T>G | CA354155210 | CASR | c.1378-6190T>G (n.1378-6190T>G) c.1489T>G (p.Ser497Ala) c.1006T>G (p.Ser336Ala) c.901T>G (p.Ser301Ala) | ClinVar |
3 | g.122275924C>A | CA354155211 | CASR | c.1378-6189C>A (n.1378-6189C>A) c.1490C>A (p.Ser497Tyr) c.1007C>A (p.Ser336Tyr) c.902C>A (p.Ser301Tyr) | ClinVar |
3 | g.122275924C>G | CA354155212 | CASR | c.1378-6189C>G (n.1378-6189C>G) c.1490C>G (p.Ser497Cys) c.1007C>G (p.Ser336Cys) c.902C>G (p.Ser301Cys) | |
3 | g.122275924C>T | CA354155213 | CASR | c.1378-6189C>T (n.1378-6189C>T) c.1490C>T (p.Ser497Phe) c.1007C>T (p.Ser336Phe) c.902C>T (p.Ser301Phe) | gnomAD v4 |
3 | g.122275925C>A | CA435424959 | CASR | c.1378-6188C>A (n.1378-6188C>A) c.1491C>A (p.Ser497=) c.1008C>A (p.Ser336=) c.903C>A (p.Ser301=) | ClinVar dbSNP |
3 | g.122275925C= | CA1397883138 | CASR | c.1378-6188C= (n.1378-6188C=) c.1491C= (p.Ser497=) c.1008C= (p.Ser336=) c.903C= (p.Ser301=) | |
3 | g.122275925C>G | CA435424960 | CASR | c.1378-6188C>G (n.1378-6188C>G) c.1491C>G (p.Ser497=) c.1008C>G (p.Ser336=) c.903C>G (p.Ser301=) | |
3 | g.122275925C>T | CA2569667 | CASR | c.1378-6188C>T (n.1378-6188C>T) c.1491C>T (p.Ser497=) c.1008C>T (p.Ser336=) c.903C>T (p.Ser301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275926C>A | CA354155215 | CASR | c.1378-6187C>A (n.1378-6187C>A) c.1492C>A (p.Pro498Thr) c.1009C>A (p.Pro337Thr) c.904C>A (p.Pro302Thr) | |
3 | g.122275926C>G | CA354155214 | CASR | c.1378-6187C>G (n.1378-6187C>G) c.1492C>G (p.Pro498Ala) c.1009C>G (p.Pro337Ala) c.904C>G (p.Pro302Ala) | gnomAD v4 |
3 | g.122275926C>T | CA354155216 | CASR | c.1378-6187C>T (n.1378-6187C>T) c.1492C>T (p.Pro498Ser) c.1009C>T (p.Pro337Ser) c.904C>T (p.Pro302Ser) | |
3 | g.122275927C>A | CA354155217 | CASR | c.1378-6186C>A (n.1378-6186C>A) c.1493C>A (p.Pro498Gln) c.1010C>A (p.Pro337Gln) c.905C>A (p.Pro302Gln) | ClinVar gnomAD v4 |
3 | g.122275927C>G | CA354155218 | CASR | c.1378-6186C>G (n.1378-6186C>G) c.1493C>G (p.Pro498Arg) c.1010C>G (p.Pro337Arg) c.905C>G (p.Pro302Arg) | |
3 | g.122275927C>T | CA354155219 | CASR | c.1378-6186C>T (n.1378-6186C>T) c.1493C>T (p.Pro498Leu) c.1010C>T (p.Pro337Leu) c.905C>T (p.Pro302Leu) | COSMIC |
3 | g.122275928A>C | CA435424962 | CASR | c.1378-6185A>C (n.1378-6185A>C) c.1494A>C (p.Pro498=) c.1011A>C (p.Pro337=) c.906A>C (p.Pro302=) | |
3 | g.122275928A>G | CA435424963 | CASR | c.1378-6185A>G (n.1378-6185A>G) c.1494A>G (p.Pro498=) c.1011A>G (p.Pro337=) c.906A>G (p.Pro302=) | |
3 | g.122275928A>T | CA435424964 | CASR | c.1378-6185A>T (n.1378-6185A>T) c.1494A>T (p.Pro498=) c.1011A>T (p.Pro337=) c.906A>T (p.Pro302=) | |
3 | g.122275929G>A | CA354155220 | CASR | c.1378-6184G>A (n.1378-6184G>A) c.1495G>A (p.Glu499Lys) c.1012G>A (p.Glu338Lys) c.907G>A (p.Glu303Lys) | ClinVar dbSNP |
3 | g.122275929G>C | CA354155221 | CASR | c.1378-6184G>C (n.1378-6184G>C) c.1495G>C (p.Glu499Gln) c.1012G>C (p.Glu338Gln) c.907G>C (p.Glu303Gln) | |
3 | g.122275929G>T | CA354155222 | CASR | c.1378-6184G>T (n.1378-6184G>T) c.1495G>T (p.Glu499Ter) c.1012G>T (p.Glu338Ter) c.907G>T (p.Glu303Ter) | |
3 | g.122275930A= | CA1397883139 | CASR | c.1378-6183A= (n.1378-6183A=) c.1496A= (p.Glu499=) c.1013A= (p.Glu338=) c.908A= (p.Glu303=) | |
3 | g.122275930A>C | CA354155225 | CASR | c.1378-6183A>C (n.1378-6183A>C) c.1496A>C (p.Glu499Ala) c.1013A>C (p.Glu338Ala) c.908A>C (p.Glu303Ala) | ClinVar dbSNP |
3 | g.122275930A>G | CA354155223 | CASR | c.1378-6183A>G (n.1378-6183A>G) c.1496A>G (p.Glu499Gly) c.1013A>G (p.Glu338Gly) c.908A>G (p.Glu303Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275930A>T | CA354155224 | CASR | c.1378-6183A>T (n.1378-6183A>T) c.1496A>T (p.Glu499Val) c.1013A>T (p.Glu338Val) c.908A>T (p.Glu303Val) | |
3 | g.122275931G>A | CA435424968 | CASR | c.1378-6182G>A (n.1378-6182G>A) c.1497G>A (p.Glu499=) c.1014G>A (p.Glu338=) c.909G>A (p.Glu303=) | |
3 | g.122275931G>C | CA354155226 | CASR | c.1378-6182G>C (n.1378-6182G>C) c.1497G>C (p.Glu499Asp) c.1014G>C (p.Glu338Asp) c.909G>C (p.Glu303Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.122275931G= | CA1397883140 | CASR | c.1378-6182G= (n.1378-6182G=) c.1497G= (p.Glu499=) c.1014G= (p.Glu338=) c.909G= (p.Glu303=) | |
3 | g.122275931G>T | CA354155227 | CASR | c.1378-6182G>T (n.1378-6182G>T) c.1497G>T (p.Glu499Asp) c.1014G>T (p.Glu338Asp) c.909G>T (p.Glu303Asp) | |
3 | g.122275932G>A | CA354155228 | CASR | c.1378-6181G>A (n.1378-6181G>A) c.1498G>A (p.Asp500Asn) c.1015G>A (p.Asp339Asn) c.910G>A (p.Asp304Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122275932G>C | CA354155229 | CASR | c.1378-6181G>C (n.1378-6181G>C) c.1498G>C (p.Asp500His) c.1015G>C (p.Asp339His) c.910G>C (p.Asp304His) | |
3 | g.122275932G= | CA1397883141 | CASR | c.1378-6181G= (n.1378-6181G=) c.1498G= (p.Asp500=) c.1015G= (p.Asp339=) c.910G= (p.Asp304=) | |
3 | g.122275932G>T | CA354155230 | CASR | c.1378-6181G>T (n.1378-6181G>T) c.1498G>T (p.Asp500Tyr) c.1015G>T (p.Asp339Tyr) c.910G>T (p.Asp304Tyr) | gnomAD v4 |
3 | g.122275933A>C | CA354155231 | CASR | c.1378-6180A>C (n.1378-6180A>C) c.1499A>C (p.Asp500Ala) c.1016A>C (p.Asp339Ala) c.911A>C (p.Asp304Ala) | |
3 | g.122275933A>G | CA354155233 | CASR | c.1378-6180A>G (n.1378-6180A>G) c.1499A>G (p.Asp500Gly) c.1016A>G (p.Asp339Gly) c.911A>G (p.Asp304Gly) | |
3 | g.122275933A>T | CA354155232 | CASR | c.1378-6180A>T (n.1378-6180A>T) c.1499A>T (p.Asp500Val) c.1016A>T (p.Asp339Val) c.911A>T (p.Asp304Val) | |
3 | g.122275934T>A | CA82745972 | CASR | c.1378-6179T>A (n.1378-6179T>A) c.1500T>A (p.Asp500Glu) c.1017T>A (p.Asp339Glu) c.912T>A (p.Asp304Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275934T>C | CA435424975 | CASR | c.1378-6179T>C (n.1378-6179T>C) c.1500T>C (p.Asp500=) c.1017T>C (p.Asp339=) c.912T>C (p.Asp304=) | gnomAD v4 |
3 | g.122275934T>G | CA354155234 | CASR | c.1378-6179T>G (n.1378-6179T>G) c.1500T>G (p.Asp500Glu) c.1017T>G (p.Asp339Glu) c.912T>G (p.Asp304Glu) | |
3 | g.122275934T= | CA1397883142 | CASR | c.1378-6179T= (n.1378-6179T=) c.1500T= (p.Asp500=) c.1017T= (p.Asp339=) c.912T= (p.Asp304=) | |
3 | g.122275935G>A | CA354155235 | CASR | c.1378-6178G>A (n.1378-6178G>A) c.1501G>A (p.Gly501Ser) c.1018G>A (p.Gly340Ser) c.913G>A (p.Gly305Ser) | |
3 | g.122275935G>C | CA354155236 | CASR | c.1378-6178G>C (n.1378-6178G>C) c.1501G>C (p.Gly501Arg) c.1018G>C (p.Gly340Arg) c.913G>C (p.Gly305Arg) | |
3 | g.122275935G>T | CA354155237 | CASR | c.1378-6178G>T (n.1378-6178G>T) c.1501G>T (p.Gly501Cys) c.1018G>T (p.Gly340Cys) c.913G>T (p.Gly305Cys) | |
3 | g.122275936G>A | CA354155238 | CASR | c.1378-6177G>A (n.1378-6177G>A) c.1502G>A (p.Gly501Asp) c.1019G>A (p.Gly340Asp) c.914G>A (p.Gly305Asp) | |
3 | g.122275936G>C | CA354155239 | CASR | c.1378-6177G>C (n.1378-6177G>C) c.1502G>C (p.Gly501Ala) c.1019G>C (p.Gly340Ala) c.914G>C (p.Gly305Ala) | ClinVar |
3 | g.122275936G>T | CA354155240 | CASR | c.1378-6177G>T (n.1378-6177G>T) c.1502G>T (p.Gly501Val) c.1019G>T (p.Gly340Val) c.914G>T (p.Gly305Val) | |
3 | g.122275937C>A | CA435424980 | CASR | c.1378-6176C>A (n.1378-6176C>A) c.1503C>A (p.Gly501=) c.1020C>A (p.Gly340=) c.915C>A (p.Gly305=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275937C= | CA1397883143 | CASR | c.1378-6176C= (n.1378-6176C=) c.1503C= (p.Gly501=) c.1020C= (p.Gly340=) c.915C= (p.Gly305=) | |
3 | g.122275937C>G | CA435424981 | CASR | c.1378-6176C>G (n.1378-6176C>G) c.1503C>G (p.Gly501=) c.1020C>G (p.Gly340=) c.915C>G (p.Gly305=) | |
3 | g.122275937C>T | CA435424982 | CASR | c.1378-6176C>T (n.1378-6176C>T) c.1503C>T (p.Gly501=) c.1020C>T (p.Gly340=) c.915C>T (p.Gly305=) | gnomAD v4 |
3 | g.122275938T>A | CA354155241 | CASR | c.1378-6175T>A (n.1378-6175T>A) c.1504T>A (p.Ser502Thr) c.1021T>A (p.Ser341Thr) c.916T>A (p.Ser306Thr) | |
3 | g.122275938T>C | CA354155242 | CASR | c.1378-6175T>C (n.1378-6175T>C) c.1504T>C (p.Ser502Pro) c.1021T>C (p.Ser341Pro) c.916T>C (p.Ser306Pro) | dbSNP gnomAD v2 |
3 | g.122275938T>G | CA354155243 | CASR | c.1378-6175T>G (n.1378-6175T>G) c.1504T>G (p.Ser502Ala) c.1021T>G (p.Ser341Ala) c.916T>G (p.Ser306Ala) | |
3 | g.122275938T= | CA1397883144 | CASR | c.1378-6175T= (n.1378-6175T=) c.1504T= (p.Ser502=) c.1021T= (p.Ser341=) c.916T= (p.Ser306=) | |
3 | g.122275939C>A | CA354155244 | CASR | c.1378-6174C>A (n.1378-6174C>A) c.1505C>A (p.Ser502Tyr) c.1022C>A (p.Ser341Tyr) c.917C>A (p.Ser306Tyr) | |
3 | g.122275939C= | CA1397883145 | CASR | c.1378-6174C= (n.1378-6174C=) c.1505C= (p.Ser502=) c.1022C= (p.Ser341=) c.917C= (p.Ser306=) | |
3 | g.122275939C>G | CA354155246 | CASR | c.1378-6174C>G (n.1378-6174C>G) c.1505C>G (p.Ser502Cys) c.1022C>G (p.Ser341Cys) c.917C>G (p.Ser306Cys) | |
3 | g.122275939C>T | CA354155245 | CASR | c.1378-6174C>T (n.1378-6174C>T) c.1505C>T (p.Ser502Phe) c.1022C>T (p.Ser341Phe) c.917C>T (p.Ser306Phe) | ClinVar dbSNP |
3 | g.122275940C>A | CA435424989 | CASR | c.1378-6173C>A (n.1378-6173C>A) c.1506C>A (p.Ser502=) c.1023C>A (p.Ser341=) c.918C>A (p.Ser306=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275940C= | CA1397883146 | CASR | c.1378-6173C= (n.1378-6173C=) c.1506C= (p.Ser502=) c.1023C= (p.Ser341=) c.918C= (p.Ser306=) | |
3 | g.122275940C>G | CA435424991 | CASR | c.1378-6173C>G (n.1378-6173C>G) c.1506C>G (p.Ser502=) c.1023C>G (p.Ser341=) c.918C>G (p.Ser306=) | |
3 | g.122275940C>T | CA435424995 | CASR | c.1378-6173C>T (n.1378-6173C>T) c.1506C>T (p.Ser502=) c.1023C>T (p.Ser341=) c.918C>T (p.Ser306=) | ClinVar dbSNP |
3 | g.122275941del | CA2580068796 | CASR | c.1378-6172del (n.1378-6172del) c.1507del (p.Ile503SerfsTer?) c.1024del (p.Ile342SerfsTer?) c.919del (p.Ile307SerfsTer?) | ClinVar |
3 | g.122275941A= | CA1397883147 | CASR | c.1378-6172A= (n.1378-6172A=) c.1507A= (p.Ile503=) c.1024A= (p.Ile342=) c.919A= (p.Ile307=) | |
3 | g.122275941A>C | CA354155247 | CASR | c.1378-6172A>C (n.1378-6172A>C) c.1507A>C (p.Ile503Leu) c.1024A>C (p.Ile342Leu) c.919A>C (p.Ile307Leu) | |
3 | g.122275941A>G | CA2569668 | CASR | c.1378-6172A>G (n.1378-6172A>G) c.1507A>G (p.Ile503Val) c.1024A>G (p.Ile342Val) c.919A>G (p.Ile307Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275941A>T | CA354155248 | CASR | c.1378-6172A>T (n.1378-6172A>T) c.1507A>T (p.Ile503Phe) c.1024A>T (p.Ile342Phe) c.919A>T (p.Ile307Phe) | |
3 | g.122275942T>A | CA354155249 | CASR | c.1378-6171T>A (n.1378-6171T>A) c.1508T>A (p.Ile503Asn) c.1025T>A (p.Ile342Asn) c.920T>A (p.Ile307Asn) | |
3 | g.122275942T>C | CA354155250 | CASR | c.1378-6171T>C (n.1378-6171T>C) c.1508T>C (p.Ile503Thr) c.1025T>C (p.Ile342Thr) c.920T>C (p.Ile307Thr) | |
3 | g.122275942T>G | CA354155251 | CASR | c.1378-6171T>G (n.1378-6171T>G) c.1508T>G (p.Ile503Ser) c.1025T>G (p.Ile342Ser) c.920T>G (p.Ile307Ser) | |
3 | g.122275943C>A | CA435424998 | CASR | c.1378-6170C>A (n.1378-6170C>A) c.1509C>A (p.Ile503=) c.1026C>A (p.Ile342=) c.921C>A (p.Ile307=) | |
3 | g.122275943C= | CA1397883148 | CASR | c.1378-6170C= (n.1378-6170C=) c.1509C= (p.Ile503=) c.1026C= (p.Ile342=) c.921C= (p.Ile307=) | |
3 | g.122275943C>G | CA354155252 | CASR | c.1378-6170C>G (n.1378-6170C>G) c.1509C>G (p.Ile503Met) c.1026C>G (p.Ile342Met) c.921C>G (p.Ile307Met) | ClinVar dbSNP |
3 | g.122275943C>T | CA2569669 | CASR | c.1378-6170C>T (n.1378-6170C>T) c.1509C>T (p.Ile503=) c.1026C>T (p.Ile342=) c.921C>T (p.Ile307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122275944G>A | CA2569670 | CASR | c.1378-6169G>A (n.1378-6169G>A) c.1510G>A (p.Val504Met) c.1027G>A (p.Val343Met) c.922G>A (p.Val308Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275944G>C | CA354155253 | CASR | c.1378-6169G>C (n.1378-6169G>C) c.1510G>C (p.Val504Leu) c.1027G>C (p.Val343Leu) c.922G>C (p.Val308Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275944G= | CA1397883150 | CASR | c.1378-6169G= (n.1378-6169G=) c.1510G= (p.Val504=) c.1027G= (p.Val343=) c.922G= (p.Val308=) | |
3 | g.122275944G>T | CA354155254 | CASR | c.1378-6169G>T (n.1378-6169G>T) c.1510G>T (p.Val504Leu) c.1027G>T (p.Val343Leu) c.922G>T (p.Val308Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122275944_122275948delinsGTGTT | CA1397883149 | CASR | c.1378-6169_1378-6165delinsGTGTT (n.1378-6169_1378-6165delinsGTGTT) c.1510_1514delinsGTGTT (p.Val504=) c.1027_1031delinsGTGTT (p.Val343=) c.922_926delinsGTGTT (p.Val308=) | |
3 | g.122275945T>A | CA354155257 | CASR | c.1378-6168T>A (n.1378-6168T>A) c.1511T>A (p.Val504Glu) c.1028T>A (p.Val343Glu) c.923T>A (p.Val308Glu) | |
3 | g.122275945T>C | CA354155256 | CASR | c.1378-6168T>C (n.1378-6168T>C) c.1511T>C (p.Val504Ala) c.1028T>C (p.Val343Ala) c.923T>C (p.Val308Ala) | |
3 | g.122275945T>G | CA354155255 | CASR | c.1378-6168T>G (n.1378-6168T>G) c.1511T>G (p.Val504Gly) c.1028T>G (p.Val343Gly) c.923T>G (p.Val308Gly) | |
3 | g.122275946_122275949del | CA213563 | CASR | c.1378-6167_1378-6164del (n.1378-6167_1378-6164del) c.1512_1515del (p.Phe505ArgfsTer?) c.1029_1032del (p.Phe344ArgfsTer?) c.924_927del (p.Phe309ArgfsTer?) | ClinVar dbSNP |
3 | g.122275946G>A | CA435425008 | CASR | c.1378-6167G>A (n.1378-6167G>A) c.1512G>A (p.Val504=) c.1029G>A (p.Val343=) c.924G>A (p.Val308=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275946G>C | CA435425005 | CASR | c.1378-6167G>C (n.1378-6167G>C) c.1512G>C (p.Val504=) c.1029G>C (p.Val343=) c.924G>C (p.Val308=) | |
3 | g.122275946G= | CA1397883151 | CASR | c.1378-6167G= (n.1378-6167G=) c.1512G= (p.Val504=) c.1029G= (p.Val343=) c.924G= (p.Val308=) | |
3 | g.122275946G>T | CA435425004 | CASR | c.1378-6167G>T (n.1378-6167G>T) c.1512G>T (p.Val504=) c.1029G>T (p.Val343=) c.924G>T (p.Val308=) | |
3 | g.122275947T>A | CA354155258 | CASR | c.1378-6166T>A (n.1378-6166T>A) c.1513T>A (p.Phe505Ile) c.1030T>A (p.Phe344Ile) c.925T>A (p.Phe309Ile) | |
3 | g.122275947T>C | CA354155259 | CASR | c.1378-6166T>C (n.1378-6166T>C) c.1513T>C (p.Phe505Leu) c.1030T>C (p.Phe344Leu) c.925T>C (p.Phe309Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122275947T>G | CA354155260 | CASR | c.1378-6166T>G (n.1378-6166T>G) c.1513T>G (p.Phe505Val) c.1030T>G (p.Phe344Val) c.925T>G (p.Phe309Val) | |
3 | g.122275948T>A | CA354155261 | CASR | c.1378-6165T>A (n.1378-6165T>A) c.1514T>A (p.Phe505Tyr) c.1031T>A (p.Phe344Tyr) c.926T>A (p.Phe309Tyr) | |
3 | g.122275948T>C | CA354155262 | CASR | c.1378-6165T>C (n.1378-6165T>C) c.1514T>C (p.Phe505Ser) c.1031T>C (p.Phe344Ser) c.926T>C (p.Phe309Ser) | |
3 | g.122275948T>G | CA354155263 | CASR | c.1378-6165T>G (n.1378-6165T>G) c.1514T>G (p.Phe505Cys) c.1031T>G (p.Phe344Cys) c.926T>G (p.Phe309Cys) | |
3 | g.122275949T>A | CA354155264 | CASR | c.1378-6164T>A (n.1378-6164T>A) c.1515T>A (p.Phe505Leu) c.1032T>A (p.Phe344Leu) c.927T>A (p.Phe309Leu) | |
3 | g.122275949T>C | CA435425014 | CASR | c.1378-6164T>C (n.1378-6164T>C) c.1515T>C (p.Phe505=) c.1032T>C (p.Phe344=) c.927T>C (p.Phe309=) | ClinVar |
3 | g.122275949T>G | CA354155265 | CASR | c.1378-6164T>G (n.1378-6164T>G) c.1515T>G (p.Phe505Leu) c.1032T>G (p.Phe344Leu) c.927T>G (p.Phe309Leu) | |
3 | g.122275950A>C | CA354155266 | CASR | c.1378-6163A>C (n.1378-6163A>C) c.1516A>C (p.Lys506Gln) c.1033A>C (p.Lys345Gln) c.928A>C (p.Lys310Gln) | |
3 | g.122275950A>G | CA354155267 | CASR | c.1378-6163A>G (n.1378-6163A>G) c.1516A>G (p.Lys506Glu) c.1033A>G (p.Lys345Glu) c.928A>G (p.Lys310Glu) | |
3 | g.122275950A>T | CA354155268 | CASR | c.1378-6163A>T (n.1378-6163A>T) c.1516A>T (p.Lys506Ter) c.1033A>T (p.Lys345Ter) c.928A>T (p.Lys310Ter) | |
3 | g.122275951A= | CA1397883152 | CASR | c.1378-6162A= (n.1378-6162A=) c.1517A= (p.Lys506=) c.1034A= (p.Lys345=) c.929A= (p.Lys310=) | |
3 | g.122275951A>C | CA2569671 | CASR | c.1378-6162A>C (n.1378-6162A>C) c.1517A>C (p.Lys506Thr) c.1034A>C (p.Lys345Thr) c.929A>C (p.Lys310Thr) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122275951A>G | CA354155270 | CASR | c.1378-6162A>G (n.1378-6162A>G) c.1517A>G (p.Lys506Arg) c.1034A>G (p.Lys345Arg) c.929A>G (p.Lys310Arg) | |
3 | g.122275951A>T | CA354155269 | CASR | c.1378-6162A>T (n.1378-6162A>T) c.1517A>T (p.Lys506Met) c.1034A>T (p.Lys345Met) c.929A>T (p.Lys310Met) | |
3 | g.122275952G>A | CA435425021 | CASR | c.1378-6161G>A (n.1378-6161G>A) c.1518G>A (p.Lys506=) c.1035G>A (p.Lys345=) c.930G>A (p.Lys310=) | ClinVar |
3 | g.122275952G>C | CA354155272 | CASR | c.1378-6161G>C (n.1378-6161G>C) c.1518G>C (p.Lys506Asn) c.1035G>C (p.Lys345Asn) c.930G>C (p.Lys310Asn) | |
3 | g.122275952G>T | CA354155271 | CASR | c.1378-6161G>T (n.1378-6161G>T) c.1518G>T (p.Lys506Asn) c.1035G>T (p.Lys345Asn) c.930G>T (p.Lys310Asn) | |
3 | g.122275953G>A | CA354155273 | CASR | c.1378-6160G>A (n.1378-6160G>A) c.1519G>A (p.Glu507Lys) c.1036G>A (p.Glu346Lys) c.931G>A (p.Glu311Lys) | |
3 | g.122275953G>C | CA354155274 | CASR | c.1378-6160G>C (n.1378-6160G>C) c.1519G>C (p.Glu507Gln) c.1036G>C (p.Glu346Gln) c.931G>C (p.Glu311Gln) | |
3 | g.122275953G>T | CA354155275 | CASR | c.1378-6160G>T (n.1378-6160G>T) c.1519G>T (p.Glu507Ter) c.1036G>T (p.Glu346Ter) c.931G>T (p.Glu311Ter) | |
3 | g.122275954A>C | CA354155276 | CASR | c.1378-6159A>C (n.1378-6159A>C) c.1520A>C (p.Glu507Ala) c.1037A>C (p.Glu346Ala) c.932A>C (p.Glu311Ala) | |
3 | g.122275954A>G | CA354155277 | CASR | c.1378-6159A>G (n.1378-6159A>G) c.1520A>G (p.Glu507Gly) c.1037A>G (p.Glu346Gly) c.932A>G (p.Glu311Gly) | |
3 | g.122275954A>T | CA354155278 | CASR | c.1378-6159A>T (n.1378-6159A>T) c.1520A>T (p.Glu507Val) c.1037A>T (p.Glu346Val) c.932A>T (p.Glu311Val) | |
3 | g.122275955A>C | CA354155279 | CASR | c.1378-6158A>C (n.1378-6158A>C) c.1521A>C (p.Glu507Asp) c.1038A>C (p.Glu346Asp) c.933A>C (p.Glu311Asp) | |
3 | g.122275955A>G | CA435425026 | CASR | c.1378-6158A>G (n.1378-6158A>G) c.1521A>G (p.Glu507=) c.1038A>G (p.Glu346=) c.933A>G (p.Glu311=) | |
3 | g.122275955A>T | CA354155280 | CASR | c.1378-6158A>T (n.1378-6158A>T) c.1521A>T (p.Glu507Asp) c.1038A>T (p.Glu346Asp) c.933A>T (p.Glu311Asp) | ClinVar |
3 | g.122275956G>A | CA2569672 | CASR | c.1378-6157G>A (n.1378-6157G>A) c.1522G>A (p.Val508Ile) c.1039G>A (p.Val347Ile) c.934G>A (p.Val312Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275956G>C | CA354155281 | CASR | c.1378-6157G>C (n.1378-6157G>C) c.1522G>C (p.Val508Leu) c.1039G>C (p.Val347Leu) c.934G>C (p.Val312Leu) | |
3 | g.122275956G= | CA1397883153 | CASR | c.1378-6157G= (n.1378-6157G=) c.1522G= (p.Val508=) c.1039G= (p.Val347=) c.934G= (p.Val312=) | |
3 | g.122275956G>T | CA354155282 | CASR | c.1378-6157G>T (n.1378-6157G>T) c.1522G>T (p.Val508Phe) c.1039G>T (p.Val347Phe) c.934G>T (p.Val312Phe) | gnomAD v4 |
3 | g.122275957T>A | CA354155285 | CASR | c.1378-6156T>A (n.1378-6156T>A) c.1523T>A (p.Val508Asp) c.1040T>A (p.Val347Asp) c.935T>A (p.Val312Asp) | |
3 | g.122275957T>C | CA354155284 | CASR | c.1378-6156T>C (n.1378-6156T>C) c.1523T>C (p.Val508Ala) c.1040T>C (p.Val347Ala) c.935T>C (p.Val312Ala) | COSMIC |
3 | g.122275957T>G | CA354155283 | CASR | c.1378-6156T>G (n.1378-6156T>G) c.1523T>G (p.Val508Gly) c.1040T>G (p.Val347Gly) c.935T>G (p.Val312Gly) | |
3 | g.122275958C>A | CA435425033 | CASR | c.1378-6155C>A (n.1378-6155C>A) c.1524C>A (p.Val508=) c.1041C>A (p.Val347=) c.936C>A (p.Val312=) | |
3 | g.122275958C= | CA1397883154 | CASR | c.1378-6155C= (n.1378-6155C=) c.1524C= (p.Val508=) c.1041C= (p.Val347=) c.936C= (p.Val312=) | |
3 | g.122275958C>G | CA435425034 | CASR | c.1378-6155C>G (n.1378-6155C>G) c.1524C>G (p.Val508=) c.1041C>G (p.Val347=) c.936C>G (p.Val312=) | |
3 | g.122275958C>T | CA82745981 | CASR | c.1378-6155C>T (n.1378-6155C>T) c.1524C>T (p.Val508=) c.1041C>T (p.Val347=) c.936C>T (p.Val312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275959G>A | CA213564 | CASR | c.1378-6154G>A (n.1378-6154G>A) c.1525G>A (p.Gly509Arg) c.1042G>A (p.Gly348Arg) c.937G>A (p.Gly313Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275959G>C | CA354155286 | CASR | c.1378-6154G>C (n.1378-6154G>C) c.1525G>C (p.Gly509Arg) c.1042G>C (p.Gly348Arg) c.937G>C (p.Gly313Arg) | ClinVar dbSNP |
3 | g.122275959G= | CA1397883155 | CASR | c.1378-6154G= (n.1378-6154G=) c.1525G= (p.Gly509=) c.1042G= (p.Gly348=) c.937G= (p.Gly313=) | |
3 | g.122275959G>T | CA354155287 | CASR | c.1378-6154G>T (n.1378-6154G>T) c.1525G>T (p.Gly509Trp) c.1042G>T (p.Gly348Trp) c.937G>T (p.Gly313Trp) | |
3 | g.122275960G>A | CA16611121 | CASR | c.1378-6153G>A (n.1378-6153G>A) c.1526G>A (p.Gly509Glu) c.1043G>A (p.Gly348Glu) c.938G>A (p.Gly313Glu) | ClinVar dbSNP |
3 | g.122275960G>C | CA354155288 | CASR | c.1378-6153G>C (n.1378-6153G>C) c.1526G>C (p.Gly509Ala) c.1043G>C (p.Gly348Ala) c.938G>C (p.Gly313Ala) | ClinVar gnomAD v4 |
3 | g.122275960G= | CA1397883156 | CASR | c.1378-6153G= (n.1378-6153G=) c.1526G= (p.Gly509=) c.1043G= (p.Gly348=) c.938G= (p.Gly313=) | |
3 | g.122275960G>T | CA354155289 | CASR | c.1378-6153G>T (n.1378-6153G>T) c.1526G>T (p.Gly509Val) c.1043G>T (p.Gly348Val) c.938G>T (p.Gly313Val) | |
3 | g.122275961G>A | CA435425038 | CASR | c.1378-6152G>A (n.1378-6152G>A) c.1527G>A (p.Gly509=) c.1044G>A (p.Gly348=) c.939G>A (p.Gly313=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122275961G>C | CA435425039 | CASR | c.1378-6152G>C (n.1378-6152G>C) c.1527G>C (p.Gly509=) c.1044G>C (p.Gly348=) c.939G>C (p.Gly313=) | |
3 | g.122275961G>T | CA435425040 | CASR | c.1378-6152G>T (n.1378-6152G>T) c.1527G>T (p.Gly509=) c.1044G>T (p.Gly348=) c.939G>T (p.Gly313=) | gnomAD v4 |
3 | g.122275962T>A | CA354155290 | CASR | c.1378-6151T>A (n.1378-6151T>A) c.1528T>A (p.Tyr510Asn) c.1045T>A (p.Tyr349Asn) c.940T>A (p.Tyr314Asn) | |
3 | g.122275962T>C | CA354155291 | CASR | c.1378-6151T>C (n.1378-6151T>C) c.1528T>C (p.Tyr510His) c.1045T>C (p.Tyr349His) c.940T>C (p.Tyr314His) | |
3 | g.122275962T>G | CA354155292 | CASR | c.1378-6151T>G (n.1378-6151T>G) c.1528T>G (p.Tyr510Asp) c.1045T>G (p.Tyr349Asp) c.940T>G (p.Tyr314Asp) | |
3 | g.122275963A= | CA1397883157 | CASR | c.1378-6150A= (n.1378-6150A=) c.1529A= (p.Tyr510=) c.1046A= (p.Tyr349=) c.941A= (p.Tyr314=) | |
3 | g.122275963A>C | CA354155293 | CASR | c.1378-6150A>C (n.1378-6150A>C) c.1529A>C (p.Tyr510Ser) c.1046A>C (p.Tyr349Ser) c.941A>C (p.Tyr314Ser) | |
3 | g.122275963A>G | CA2569673 | CASR | c.1378-6150A>G (n.1378-6150A>G) c.1529A>G (p.Tyr510Cys) c.1046A>G (p.Tyr349Cys) c.941A>G (p.Tyr314Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275963A>T | CA354155294 | CASR | c.1378-6150A>T (n.1378-6150A>T) c.1529A>T (p.Tyr510Phe) c.1046A>T (p.Tyr349Phe) c.941A>T (p.Tyr314Phe) | |
3 | g.122275964T>A | CA354155296 | CASR | c.1378-6149T>A (n.1378-6149T>A) c.1530T>A (p.Tyr510Ter) c.1047T>A (p.Tyr349Ter) c.942T>A (p.Tyr314Ter) | |
3 | g.122275964T>C | CA435425043 | CASR | c.1378-6149T>C (n.1378-6149T>C) c.1530T>C (p.Tyr510=) c.1047T>C (p.Tyr349=) c.942T>C (p.Tyr314=) | |
3 | g.122275964T>G | CA354155295 | CASR | c.1378-6149T>G (n.1378-6149T>G) c.1530T>G (p.Tyr510Ter) c.1047T>G (p.Tyr349Ter) c.942T>G (p.Tyr314Ter) | |
3 | g.122275965T>A | CA354155297 | CASR | c.1378-6148T>A (n.1378-6148T>A) c.1531T>A (p.Tyr511Asn) c.1048T>A (p.Tyr350Asn) c.943T>A (p.Tyr315Asn) | gnomAD v4 |
3 | g.122275965T>C | CA354155298 | CASR | c.1378-6148T>C (n.1378-6148T>C) c.1531T>C (p.Tyr511His) c.1048T>C (p.Tyr350His) c.943T>C (p.Tyr315His) | |
3 | g.122275965T>G | CA354155299 | CASR | c.1378-6148T>G (n.1378-6148T>G) c.1531T>G (p.Tyr511Asp) c.1048T>G (p.Tyr350Asp) c.943T>G (p.Tyr315Asp) | |
3 | g.122275966A>C | CA354155300 | CASR | c.1378-6147A>C (n.1378-6147A>C) c.1532A>C (p.Tyr511Ser) c.1049A>C (p.Tyr350Ser) c.944A>C (p.Tyr315Ser) | |
3 | g.122275966A>G | CA354155301 | CASR | c.1378-6147A>G (n.1378-6147A>G) c.1532A>G (p.Tyr511Cys) c.1049A>G (p.Tyr350Cys) c.944A>G (p.Tyr315Cys) | |
3 | g.122275966A>T | CA354155303 | CASR | c.1378-6147A>T (n.1378-6147A>T) c.1532A>T (p.Tyr511Phe) c.1049A>T (p.Tyr350Phe) c.944A>T (p.Tyr315Phe) | |
3 | g.122275967C>A | CA354155305 | CASR | c.1378-6146C>A (n.1378-6146C>A) c.1533C>A (p.Tyr511Ter) c.1050C>A (p.Tyr350Ter) c.945C>A (p.Tyr315Ter) | |
3 | g.122275967C>G | CA354155307 | CASR | c.1378-6146C>G (n.1378-6146C>G) c.1533C>G (p.Tyr511Ter) c.1050C>G (p.Tyr350Ter) c.945C>G (p.Tyr315Ter) | |
3 | g.122275967C>T | CA435425051 | CASR | c.1378-6146C>T (n.1378-6146C>T) c.1533C>T (p.Tyr511=) c.1050C>T (p.Tyr350=) c.945C>T (p.Tyr315=) | ClinVar gnomAD v4 |
3 | g.122275968A= | CA1397883158 | CASR | c.1378-6145A= (n.1378-6145A=) c.1534A= (p.Asn512=) c.1051A= (p.Asn351=) c.946A= (p.Asn316=) | |
3 | g.122275968A>C | CA354155309 | CASR | c.1378-6145A>C (n.1378-6145A>C) c.1534A>C (p.Asn512His) c.1051A>C (p.Asn351His) c.946A>C (p.Asn316His) | |
3 | g.122275968A>G | CA354155311 | CASR | c.1378-6145A>G (n.1378-6145A>G) c.1534A>G (p.Asn512Asp) c.1051A>G (p.Asn351Asp) c.946A>G (p.Asn316Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.122275968A>T | CA354155313 | CASR | c.1378-6145A>T (n.1378-6145A>T) c.1534A>T (p.Asn512Tyr) c.1051A>T (p.Asn351Tyr) c.946A>T (p.Asn316Tyr) | |
3 | g.122275969A>C | CA354155314 | CASR | c.1378-6144A>C (n.1378-6144A>C) c.1535A>C (p.Asn512Thr) c.1052A>C (p.Asn351Thr) c.947A>C (p.Asn316Thr) | |
3 | g.122275969A>G | CA354155315 | CASR | c.1378-6144A>G (n.1378-6144A>G) c.1535A>G (p.Asn512Ser) c.1052A>G (p.Asn351Ser) c.947A>G (p.Asn316Ser) | dbSNP |
3 | g.122275969A>T | CA354155317 | CASR | c.1378-6144A>T (n.1378-6144A>T) c.1535A>T (p.Asn512Ile) c.1052A>T (p.Asn351Ile) c.947A>T (p.Asn316Ile) | |
3 | g.122275970C>A | CA354155321 | CASR | c.1378-6143C>A (n.1378-6143C>A) c.1536C>A (p.Asn512Lys) c.1053C>A (p.Asn351Lys) c.948C>A (p.Asn316Lys) | |
3 | g.122275970C= | CA1397883159 | CASR | c.1378-6143C= (n.1378-6143C=) c.1536C= (p.Asn512=) c.1053C= (p.Asn351=) c.948C= (p.Asn316=) | |
3 | g.122275970C>G | CA354155319 | CASR | c.1378-6143C>G (n.1378-6143C>G) c.1536C>G (p.Asn512Lys) c.1053C>G (p.Asn351Lys) c.948C>G (p.Asn316Lys) | |
3 | g.122275970C>T | CA82745987 | CASR | c.1378-6143C>T (n.1378-6143C>T) c.1536C>T (p.Asn512=) c.1053C>T (p.Asn351=) c.948C>T (p.Asn316=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275971G>A | CA82745990 | CASR | c.1378-6142G>A (n.1378-6142G>A) c.1537G>A (p.Val513Ile) c.1054G>A (p.Val352Ile) c.949G>A (p.Val317Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122275971G>C | CA354155324 | CASR | c.1378-6142G>C (n.1378-6142G>C) c.1537G>C (p.Val513Leu) c.1054G>C (p.Val352Leu) c.949G>C (p.Val317Leu) | |
3 | g.122275971G= | CA1397883160 | CASR | c.1378-6142G= (n.1378-6142G=) c.1537G= (p.Val513=) c.1054G= (p.Val352=) c.949G= (p.Val317=) | |
3 | g.122275971G>T | CA354155326 | CASR | c.1378-6142G>T (n.1378-6142G>T) c.1537G>T (p.Val513Phe) c.1054G>T (p.Val352Phe) c.949G>T (p.Val317Phe) | |
3 | g.122275972T>A | CA354155328 | CASR | c.1378-6141T>A (n.1378-6141T>A) c.1538T>A (p.Val513Asp) c.1055T>A (p.Val352Asp) c.950T>A (p.Val317Asp) | dbSNP |
3 | g.122275972T>C | CA354155330 | CASR | c.1378-6141T>C (n.1378-6141T>C) c.1538T>C (p.Val513Ala) c.1055T>C (p.Val352Ala) c.950T>C (p.Val317Ala) | |
3 | g.122275972T>G | CA354155332 | CASR | c.1378-6141T>G (n.1378-6141T>G) c.1538T>G (p.Val513Gly) c.1055T>G (p.Val352Gly) c.950T>G (p.Val317Gly) | |
3 | g.122275972T= | CA1397883161 | CASR | c.1378-6141T= (n.1378-6141T=) c.1538T= (p.Val513=) c.1055T= (p.Val352=) c.950T= (p.Val317=) | |
3 | g.122275973C>A | CA435424556 | CASR | c.1378-6140C>A (n.1378-6140C>A) c.1539C>A (p.Val513=) c.1056C>A (p.Val352=) c.951C>A (p.Val317=) | |
3 | g.122275973C= | CA1397883162 | CASR | c.1378-6140C= (n.1378-6140C=) c.1539C= (p.Val513=) c.1056C= (p.Val352=) c.951C= (p.Val317=) | |
3 | g.122275973C>G | CA435424558 | CASR | c.1378-6140C>G (n.1378-6140C>G) c.1539C>G (p.Val513=) c.1056C>G (p.Val352=) c.951C>G (p.Val317=) | |
3 | g.122275973C>T | CA435424559 | CASR | c.1378-6140C>T (n.1378-6140C>T) c.1539C>T (p.Val513=) c.1056C>T (p.Val352=) c.951C>T (p.Val317=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275974T>A | CA354155334 | CASR | c.1378-6139T>A (n.1378-6139T>A) c.1540T>A (p.Tyr514Asn) c.1057T>A (p.Tyr353Asn) c.952T>A (p.Tyr318Asn) | |
3 | g.122275974T>C | CA354155335 | CASR | c.1378-6139T>C (n.1378-6139T>C) c.1540T>C (p.Tyr514His) c.1057T>C (p.Tyr353His) c.952T>C (p.Tyr318His) | |
3 | g.122275974T>G | CA354155337 | CASR | c.1378-6139T>G (n.1378-6139T>G) c.1540T>G (p.Tyr514Asp) c.1057T>G (p.Tyr353Asp) c.952T>G (p.Tyr318Asp) | |
3 | g.122275975A>C | CA354155339 | CASR | c.1378-6138A>C (n.1378-6138A>C) c.1541A>C (p.Tyr514Ser) c.1058A>C (p.Tyr353Ser) c.953A>C (p.Tyr318Ser) | |
3 | g.122275975A>G | CA354155340 | CASR | c.1378-6138A>G (n.1378-6138A>G) c.1541A>G (p.Tyr514Cys) c.1058A>G (p.Tyr353Cys) c.953A>G (p.Tyr318Cys) | ClinVar |
3 | g.122275975A>T | CA354155342 | CASR | c.1378-6138A>T (n.1378-6138A>T) c.1541A>T (p.Tyr514Phe) c.1058A>T (p.Tyr353Phe) c.953A>T (p.Tyr318Phe) | |
3 | g.122275976T>A | CA354155345 | CASR | c.1378-6137T>A (n.1378-6137T>A) c.1542T>A (p.Tyr514Ter) c.1059T>A (p.Tyr353Ter) c.954T>A (p.Tyr318Ter) | |
3 | g.122275976T>C | CA435424565 | CASR | c.1378-6137T>C (n.1378-6137T>C) c.1542T>C (p.Tyr514=) c.1059T>C (p.Tyr353=) c.954T>C (p.Tyr318=) | ClinVar |
3 | g.122275976T>G | CA354155346 | CASR | c.1378-6137T>G (n.1378-6137T>G) c.1542T>G (p.Tyr514Ter) c.1059T>G (p.Tyr353Ter) c.954T>G (p.Tyr318Ter) | ClinVar dbSNP |
3 | g.122275976T= | CA1397883163 | CASR | c.1378-6137T= (n.1378-6137T=) c.1542T= (p.Tyr514=) c.1059T= (p.Tyr353=) c.954T= (p.Tyr318=) | |
3 | g.122275977G>A | CA354155351 | CASR | c.1378-6136G>A (n.1378-6136G>A) c.1543G>A (p.Ala515Thr) c.1060G>A (p.Ala354Thr) c.955G>A (p.Ala319Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275977G>C | CA354155353 | CASR | c.1378-6136G>C (n.1378-6136G>C) c.1543G>C (p.Ala515Pro) c.1060G>C (p.Ala354Pro) c.955G>C (p.Ala319Pro) | |
3 | g.122275977G= | CA1397883164 | CASR | c.1378-6136G= (n.1378-6136G=) c.1543G= (p.Ala515=) c.1060G= (p.Ala354=) c.955G= (p.Ala319=) | |
3 | g.122275977G>T | CA354155349 | CASR | c.1378-6136G>T (n.1378-6136G>T) c.1543G>T (p.Ala515Ser) c.1060G>T (p.Ala354Ser) c.955G>T (p.Ala319Ser) | |
3 | g.122275978C>A | CA354155357 | CASR | c.1378-6135C>A (n.1378-6135C>A) c.1544C>A (p.Ala515Asp) c.1061C>A (p.Ala354Asp) c.956C>A (p.Ala319Asp) | |
3 | g.122275978C>G | CA354155354 | CASR | c.1378-6135C>G (n.1378-6135C>G) c.1544C>G (p.Ala515Gly) c.1061C>G (p.Ala354Gly) c.956C>G (p.Ala319Gly) | |
3 | g.122275978C>T | CA354155355 | CASR | c.1378-6135C>T (n.1378-6135C>T) c.1544C>T (p.Ala515Val) c.1061C>T (p.Ala354Val) c.956C>T (p.Ala319Val) | |
3 | g.122275979C>A | CA435424572 | CASR | c.1378-6134C>A (n.1378-6134C>A) c.1545C>A (p.Ala515=) c.1062C>A (p.Ala354=) c.957C>A (p.Ala319=) | |
3 | g.122275979C= | CA1397883165 | CASR | c.1378-6134C= (n.1378-6134C=) c.1545C= (p.Ala515=) c.1062C= (p.Ala354=) c.957C= (p.Ala319=) | |
3 | g.122275979C>G | CA435424573 | CASR | c.1378-6134C>G (n.1378-6134C>G) c.1545C>G (p.Ala515=) c.1062C>G (p.Ala354=) c.957C>G (p.Ala319=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275979C>T | CA435424574 | CASR | c.1378-6134C>T (n.1378-6134C>T) c.1545C>T (p.Ala515=) c.1062C>T (p.Ala354=) c.957C>T (p.Ala319=) | ClinVar |
3 | g.122275980A>C | CA354155360 | CASR | c.1378-6133A>C (n.1378-6133A>C) c.1546A>C (p.Lys516Gln) c.1063A>C (p.Lys355Gln) c.958A>C (p.Lys320Gln) | |
3 | g.122275980A>G | CA354155361 | CASR | c.1378-6133A>G (n.1378-6133A>G) c.1546A>G (p.Lys516Glu) c.1063A>G (p.Lys355Glu) c.958A>G (p.Lys320Glu) | |
3 | g.122275980A>T | CA354155364 | CASR | c.1378-6133A>T (n.1378-6133A>T) c.1546A>T (p.Lys516Ter) c.1063A>T (p.Lys355Ter) c.958A>T (p.Lys320Ter) | |
3 | g.122275981A>C | CA354155366 | CASR | c.1378-6132A>C (n.1378-6132A>C) c.1547A>C (p.Lys516Thr) c.1064A>C (p.Lys355Thr) c.959A>C (p.Lys320Thr) | |
3 | g.122275981A>G | CA354155368 | CASR | c.1378-6132A>G (n.1378-6132A>G) c.1547A>G (p.Lys516Arg) c.1064A>G (p.Lys355Arg) c.959A>G (p.Lys320Arg) | ClinVar |
3 | g.122275981A>T | CA354155370 | CASR | c.1378-6132A>T (n.1378-6132A>T) c.1547A>T (p.Lys516Met) c.1064A>T (p.Lys355Met) c.959A>T (p.Lys320Met) | |
3 | g.122275982G>A | CA435424578 | CASR | c.1378-6131G>A (n.1378-6131G>A) c.1548G>A (p.Lys516=) c.1065G>A (p.Lys355=) c.960G>A (p.Lys320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275982G>C | CA354155372 | CASR | c.1378-6131G>C (n.1378-6131G>C) c.1548G>C (p.Lys516Asn) c.1065G>C (p.Lys355Asn) c.960G>C (p.Lys320Asn) | |
3 | g.122275982G= | CA1397883166 | CASR | c.1378-6131G= (n.1378-6131G=) c.1548G= (p.Lys516=) c.1065G= (p.Lys355=) c.960G= (p.Lys320=) | |
3 | g.122275982G>T | CA354155373 | CASR | c.1378-6131G>T (n.1378-6131G>T) c.1548G>T (p.Lys516Asn) c.1065G>T (p.Lys355Asn) c.960G>T (p.Lys320Asn) | |
3 | g.122275983A= | CA1397883167 | CASR | c.1378-6130A= (n.1378-6130A=) c.1549A= (p.Lys517=) c.1066A= (p.Lys356=) c.961A= (p.Lys321=) | |
3 | g.122275983A>C | CA354155374 | CASR | c.1378-6130A>C (n.1378-6130A>C) c.1549A>C (p.Lys517Gln) c.1066A>C (p.Lys356Gln) c.961A>C (p.Lys321Gln) | |
3 | g.122275983A>G | CA2569674 | CASR | c.1378-6130A>G (n.1378-6130A>G) c.1549A>G (p.Lys517Glu) c.1066A>G (p.Lys356Glu) c.961A>G (p.Lys321Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275983A>T | CA354155377 | CASR | c.1378-6130A>T (n.1378-6130A>T) c.1549A>T (p.Lys517Ter) c.1066A>T (p.Lys356Ter) c.961A>T (p.Lys321Ter) | |
3 | g.122275984A>C | CA354155384 | CASR | c.1378-6129A>C (n.1378-6129A>C) c.1550A>C (p.Lys517Thr) c.1067A>C (p.Lys356Thr) c.962A>C (p.Lys321Thr) | gnomAD v4 |
3 | g.122275984A>G | CA354155380 | CASR | c.1378-6129A>G (n.1378-6129A>G) c.1550A>G (p.Lys517Arg) c.1067A>G (p.Lys356Arg) c.962A>G (p.Lys321Arg) | |
3 | g.122275984A>T | CA354155382 | CASR | c.1378-6129A>T (n.1378-6129A>T) c.1550A>T (p.Lys517Met) c.1067A>T (p.Lys356Met) c.962A>T (p.Lys321Met) | ClinVar dbSNP |
3 | g.122275985G>A | CA435424587 | CASR | c.1378-6128G>A (n.1378-6128G>A) c.1551G>A (p.Lys517=) c.1068G>A (p.Lys356=) c.963G>A (p.Lys321=) | ClinVar gnomAD v4 |
3 | g.122275985G>C | CA354155386 | CASR | c.1378-6128G>C (n.1378-6128G>C) c.1551G>C (p.Lys517Asn) c.1068G>C (p.Lys356Asn) c.963G>C (p.Lys321Asn) | |
3 | g.122275985G= | CA1397883168 | CASR | c.1378-6128G= (n.1378-6128G=) c.1551G= (p.Lys517=) c.1068G= (p.Lys356=) c.963G= (p.Lys321=) | |
3 | g.122275985G>T | CA2569675 | CASR | c.1378-6128G>T (n.1378-6128G>T) c.1551G>T (p.Lys517Asn) c.1068G>T (p.Lys356Asn) c.963G>T (p.Lys321Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275986G>A | CA354155389 | CASR | c.1378-6127G>A (n.1378-6127G>A) c.1552G>A (p.Gly518Arg) c.1069G>A (p.Gly357Arg) c.964G>A (p.Gly322Arg) | ClinVar dbSNP |
3 | g.122275986G>C | CA354155391 | CASR | c.1378-6127G>C (n.1378-6127G>C) c.1552G>C (p.Gly518Arg) c.1069G>C (p.Gly357Arg) c.964G>C (p.Gly322Arg) | |
3 | g.122275986G= | CA1397883169 | CASR | c.1378-6127G= (n.1378-6127G=) c.1552G= (p.Gly518=) c.1069G= (p.Gly357=) c.964G= (p.Gly322=) | |
3 | g.122275986G>T | CA354155393 | CASR | c.1378-6127G>T (n.1378-6127G>T) c.1552G>T (p.Gly518Ter) c.1069G>T (p.Gly357Ter) c.964G>T (p.Gly322Ter) | |
3 | g.122275987G>A | CA2569676 | CASR | c.1378-6126G>A (n.1378-6126G>A) c.1553G>A (p.Gly518Glu) c.1070G>A (p.Gly357Glu) c.965G>A (p.Gly322Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122275987G>C | CA354155396 | CASR | c.1378-6126G>C (n.1378-6126G>C) c.1553G>C (p.Gly518Ala) c.1070G>C (p.Gly357Ala) c.965G>C (p.Gly322Ala) | |
3 | g.122275987G= | CA1397883170 | CASR | c.1378-6126G= (n.1378-6126G=) c.1553G= (p.Gly518=) c.1070G= (p.Gly357=) c.965G= (p.Gly322=) | |
3 | g.122275987G>T | CA354155398 | CASR | c.1378-6126G>T (n.1378-6126G>T) c.1553G>T (p.Gly518Val) c.1070G>T (p.Gly357Val) c.965G>T (p.Gly322Val) | |
3 | g.122275988A= | CA1397883171 | CASR | c.1378-6125A= (n.1378-6125A=) c.1554A= (p.Gly518=) c.1071A= (p.Gly357=) c.966A= (p.Gly322=) | |
3 | g.122275988A>C | CA435424600 | CASR | c.1378-6125A>C (n.1378-6125A>C) c.1554A>C (p.Gly518=) c.1071A>C (p.Gly357=) c.966A>C (p.Gly322=) | |
3 | g.122275988A>G | CA2569677 | CASR | c.1378-6125A>G (n.1378-6125A>G) c.1554A>G (p.Gly518=) c.1071A>G (p.Gly357=) c.966A>G (p.Gly322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275988A>T | CA435424595 | CASR | c.1378-6125A>T (n.1378-6125A>T) c.1554A>T (p.Gly518=) c.1071A>T (p.Gly357=) c.966A>T (p.Gly322=) | |
3 | g.122275991_122275994del | CA2573136464 | CASR | c.1378-6122_1378-6119del (n.1378-6122_1378-6119del) c.1557_1560del (p.Glu519AspfsTer?) c.1074_1077del (p.Glu358AspfsTer?) c.969_972del (p.Glu323AspfsTer?) | ClinVar dbSNP |
3 | g.122275989G>A | CA354155401 | CASR | c.1378-6124G>A (n.1378-6124G>A) c.1555G>A (p.Glu519Lys) c.1072G>A (p.Glu358Lys) c.967G>A (p.Glu323Lys) | |
3 | g.122275989G>C | CA354155403 | CASR | c.1378-6124G>C (n.1378-6124G>C) c.1555G>C (p.Glu519Gln) c.1072G>C (p.Glu358Gln) c.967G>C (p.Glu323Gln) | |
3 | g.122275989G>T | CA354155405 | CASR | c.1378-6124G>T (n.1378-6124G>T) c.1555G>T (p.Glu519Ter) c.1072G>T (p.Glu358Ter) c.967G>T (p.Glu323Ter) | |
3 | g.122275990A>C | CA354155411 | CASR | c.1378-6123A>C (n.1378-6123A>C) c.1556A>C (p.Glu519Ala) c.1073A>C (p.Glu358Ala) c.968A>C (p.Glu323Ala) | |
3 | g.122275990A>G | CA354155409 | CASR | c.1378-6123A>G (n.1378-6123A>G) c.1556A>G (p.Glu519Gly) c.1073A>G (p.Glu358Gly) c.968A>G (p.Glu323Gly) | |
3 | g.122275990A>T | CA354155407 | CASR | c.1378-6123A>T (n.1378-6123A>T) c.1556A>T (p.Glu519Val) c.1073A>T (p.Glu358Val) c.968A>T (p.Glu323Val) | |
3 | g.122275991A= | CA1397883172 | CASR | c.1378-6122A= (n.1378-6122A=) c.1557A= (p.Glu519=) c.1074A= (p.Glu358=) c.969A= (p.Glu323=) | |
3 | g.122275991A>C | CA354155414 | CASR | c.1378-6122A>C (n.1378-6122A>C) c.1557A>C (p.Glu519Asp) c.1074A>C (p.Glu358Asp) c.969A>C (p.Glu323Asp) | |
3 | g.122275991A>G | CA82746009 | CASR | c.1378-6122A>G (n.1378-6122A>G) c.1557A>G (p.Glu519=) c.1074A>G (p.Glu358=) c.969A>G (p.Glu323=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275991A>T | CA354155413 | CASR | c.1378-6122A>T (n.1378-6122A>T) c.1557A>T (p.Glu519Asp) c.1074A>T (p.Glu358Asp) c.969A>T (p.Glu323Asp) | |
3 | g.122275992A>C | CA435424609 | CASR | c.1378-6121A>C (n.1378-6121A>C) c.1558A>C (p.Arg520=) c.1075A>C (p.Arg359=) c.970A>C (p.Arg324=) | |
3 | g.122275992A>G | CA354155416 | CASR | c.1378-6121A>G (n.1378-6121A>G) c.1558A>G (p.Arg520Gly) c.1075A>G (p.Arg359Gly) c.970A>G (p.Arg324Gly) | |
3 | g.122275992A>T | CA354155419 | CASR | c.1378-6121A>T (n.1378-6121A>T) c.1558A>T (p.Arg520Ter) c.1075A>T (p.Arg359Ter) c.970A>T (p.Arg324Ter) | |
3 | g.122275993G>A | CA354155421 | CASR | c.1378-6120G>A (n.1378-6120G>A) c.1559G>A (p.Arg520Lys) c.1076G>A (p.Arg359Lys) c.971G>A (p.Arg324Lys) | |
3 | g.122275993G>C | CA354155423 | CASR | c.1378-6120G>C (n.1378-6120G>C) c.1559G>C (p.Arg520Thr) c.1076G>C (p.Arg359Thr) c.971G>C (p.Arg324Thr) | gnomAD v4 |
3 | g.122275993G>T | CA354155425 | CASR | c.1378-6120G>T (n.1378-6120G>T) c.1559G>T (p.Arg520Ile) c.1076G>T (p.Arg359Ile) c.971G>T (p.Arg324Ile) | |
3 | g.122275994A= | CA1397883173 | CASR | c.1378-6119A= (n.1378-6119A=) c.1560A= (p.Arg520=) c.1077A= (p.Arg359=) c.972A= (p.Arg324=) | |
3 | g.122275994A>C | CA354155428 | CASR | c.1378-6119A>C (n.1378-6119A>C) c.1560A>C (p.Arg520Ser) c.1077A>C (p.Arg359Ser) c.972A>C (p.Arg324Ser) | |
3 | g.122275994A>G | CA435424619 | CASR | c.1378-6119A>G (n.1378-6119A>G) c.1560A>G (p.Arg520=) c.1077A>G (p.Arg359=) c.972A>G (p.Arg324=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275994A>T | CA2569678 | CASR | c.1378-6119A>T (n.1378-6119A>T) c.1560A>T (p.Arg520Ser) c.1077A>T (p.Arg359Ser) c.972A>T (p.Arg324Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275994_122275995insGATGAGGCTGTGGGCAAAGCC | CA2758179111 | CASR | c.1378-6119_1378-6118insGATGAGGCTGTGGGCAAAGCC (n.1378-6119_1378-6118insGATGAGGCTGTGGGCAAAGCC) c.1560_1561insGATGAGGCTGTGGGCAAAGCC (p.Arg520_Leu521insAspGluAlaValGlyLysAla) c.1077_1078insGATGAGGCTGTGGGCAAAGCC (p.Arg359_Leu360insAspGluAlaValGlyLysAla) c.972_973insGATGAGGCTGTGGGCAAAGCC (p.Arg324_Leu325insAspGluAlaValGlyLysAla) | |
3 | g.122275995C>A | CA354155430 | CASR | c.1378-6118C>A (n.1378-6118C>A) c.1561C>A (p.Leu521Ile) c.1078C>A (p.Leu360Ile) c.973C>A (p.Leu325Ile) | |
3 | g.122275995C>G | CA354155432 | CASR | c.1378-6118C>G (n.1378-6118C>G) c.1561C>G (p.Leu521Val) c.1078C>G (p.Leu360Val) c.973C>G (p.Leu325Val) | ClinVar |
3 | g.122275995C>T | CA354155434 | CASR | c.1378-6118C>T (n.1378-6118C>T) c.1561C>T (p.Leu521Phe) c.1078C>T (p.Leu360Phe) c.973C>T (p.Leu325Phe) | ClinVar |
3 | g.122275996T>A | CA354155437 | CASR | c.1378-6117T>A (n.1378-6117T>A) c.1562T>A (p.Leu521His) c.1079T>A (p.Leu360His) c.974T>A (p.Leu325His) | |
3 | g.122275996T>C | CA354155439 | CASR | c.1378-6117T>C (n.1378-6117T>C) c.1562T>C (p.Leu521Pro) c.1079T>C (p.Leu360Pro) c.974T>C (p.Leu325Pro) | ClinVar |
3 | g.122275996T>G | CA354155441 | CASR | c.1378-6117T>G (n.1378-6117T>G) c.1562T>G (p.Leu521Arg) c.1079T>G (p.Leu360Arg) c.974T>G (p.Leu325Arg) |