Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122275796C>A | CA2580068622 | CASR | c.1378-6317C>A (n.1378-6317C>A) c.1378-16C>A (n.1378-16C>A) c.895-16C>A (n.895-16C>A) c.790-16C>A (n.790-16C>A) | ClinVar gnomAD v4 |
3 | g.122275796C= | CA1397883078 | CASR | c.1378-6317C= (n.1378-6317C=) c.1378-16C= (n.1378-16C=) c.895-16C= (n.895-16C=) c.790-16C= (n.790-16C=) | |
3 | g.122275796C>G | CA82745873 | CASR | c.1378-6317C>G (n.1378-6317C>G) c.1378-16C>G (n.1378-16C>G) c.895-16C>G (n.895-16C>G) c.790-16C>G (n.790-16C>G) | ClinVar dbSNP |
3 | g.122275800_122275801delinsGC | CA1397883079 | CASR | c.1378-6313_1378-6312delinsGC (n.1378-6313_1378-6312delinsGC) c.1378-12_1378-11delinsGC (n.1378-12_1378-11delinsGC) c.895-12_895-11delinsGC (n.895-12_895-11delinsGC) c.790-12_790-11delinsGC (n.790-12_790-11delinsGC) | |
3 | g.122275801del | CA1397883080 | CASR | c.1378-6312del (n.1378-6312del) c.1378-11del (n.1378-11del) c.895-11del (n.895-11del) c.790-11del (n.790-11del) | dbSNP |
3 | g.122275801C>A | CA2667222907 | CASR | c.1378-6312C>A (n.1378-6312C>A) c.1378-11C>A (n.1378-11C>A) c.895-11C>A (n.895-11C>A) c.790-11C>A (n.790-11C>A) | gnomAD v4 |
3 | g.122275801C>T | CA2573136463 | CASR | c.1378-6312C>T (n.1378-6312C>T) c.1378-11C>T (n.1378-11C>T) c.895-11C>T (n.895-11C>T) c.790-11C>T (n.790-11C>T) | ClinVar dbSNP |
3 | g.122275803C>T | CA2740094555 | CASR | c.1378-6310C>T (n.1378-6310C>T) c.1378-9C>T (n.1378-9C>T) c.895-9C>T (n.895-9C>T) c.790-9C>T (n.790-9C>T) | ClinVar |
3 | g.122275805T>C | CA545962751 | CASR | c.1378-6308T>C (n.1378-6308T>C) c.1378-7T>C (n.1378-7T>C) c.895-7T>C (n.895-7T>C) c.790-7T>C (n.790-7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275805T= | CA1397883081 | CASR | c.1378-6308T= (n.1378-6308T=) c.1378-7T= (n.1378-7T=) c.895-7T= (n.895-7T=) c.790-7T= (n.790-7T=) | |
3 | g.122275806C= | CA1397883082 | CASR | c.1378-6307C= (n.1378-6307C=) c.1378-6C= (n.1378-6C=) c.895-6C= (n.895-6C=) c.790-6C= (n.790-6C=) | |
3 | g.122275806C>T | CA2569647 | CASR | c.1378-6307C>T (n.1378-6307C>T) c.1378-6C>T (n.1378-6C>T) c.895-6C>T (n.895-6C>T) c.790-6C>T (n.790-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275807T>C | CA2825001190 | CASR | c.1378-6306T>C (n.1378-6306T>C) c.1378-5T>C (n.1378-5T>C) c.895-5T>C (n.895-5T>C) c.790-5T>C (n.790-5T>C) | ClinVar |
3 | g.122275809T>C | CA1397883084 | CASR | c.1378-6304T>C (n.1378-6304T>C) c.1378-3T>C (n.1378-3T>C) c.895-3T>C (n.895-3T>C) c.790-3T>C (n.790-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275809T= | CA1397883083 | CASR | c.1378-6304T= (n.1378-6304T=) c.1378-3T= (n.1378-3T=) c.895-3T= (n.895-3T=) c.790-3T= (n.790-3T=) | |
3 | g.122275810A>C | CA354154765 | CASR | c.1378-6303A>C (n.1378-6303A>C) c.1378-2A>C (n.1378-2A>C) c.895-2A>C (n.895-2A>C) c.790-2A>C (n.790-2A>C) | |
3 | g.122275810A>G | CA354154767 | CASR | c.1378-6303A>G (n.1378-6303A>G) c.1378-2A>G (n.1378-2A>G) c.895-2A>G (n.895-2A>G) c.790-2A>G (n.790-2A>G) | |
3 | g.122275810A>T | CA354154769 | CASR | c.1378-6303A>T (n.1378-6303A>T) c.1378-2A>T (n.1378-2A>T) c.895-2A>T (n.895-2A>T) c.790-2A>T (n.790-2A>T) | |
3 | g.122275811G>A | CA354154770 | CASR | c.1378-6302G>A (n.1378-6302G>A) c.1378-1G>A (n.1378-1G>A) c.895-1G>A (n.895-1G>A) c.790-1G>A (n.790-1G>A) | |
3 | g.122275811G>C | CA354154771 | CASR | c.1378-6302G>C (n.1378-6302G>C) c.1378-1G>C (n.1378-1G>C) c.895-1G>C (n.895-1G>C) c.790-1G>C (n.790-1G>C) | ClinVar dbSNP |
3 | g.122275811G= | CA1397883085 | CASR | c.1378-6302G= (n.1378-6302G=) c.1378-1G= (n.1378-1G=) c.895-1G= (n.895-1G=) c.790-1G= (n.790-1G=) | |
3 | g.122275811G>T | CA354154773 | CASR | c.1378-6302G>T (n.1378-6302G>T) c.1378-1G>T (n.1378-1G>T) c.895-1G>T (n.895-1G>T) c.790-1G>T (n.790-1G>T) | COSMIC |
3 | g.122275812G>A | CA2569648 | CASR | c.1378-6301G>A (n.1378-6301G>A) c.1378G>A (p.Val460Ile) c.895G>A (p.Val299Ile) c.790G>A (p.Val264Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275812G>C | CA354154777 | CASR | c.1378-6301G>C (n.1378-6301G>C) c.1378G>C (p.Val460Leu) c.895G>C (p.Val299Leu) c.790G>C (p.Val264Leu) | |
3 | g.122275812G= | CA1397883086 | CASR | c.1378-6301G= (n.1378-6301G=) c.1378G= (p.Val460=) c.895G= (p.Val299=) c.790G= (p.Val264=) | |
3 | g.122275812G>T | CA354154776 | CASR | c.1378-6301G>T (n.1378-6301G>T) c.1378G>T (p.Val460Phe) c.895G>T (p.Val299Phe) c.790G>T (p.Val264Phe) | |
3 | g.122275813T>A | CA354154779 | CASR | c.1378-6300T>A (n.1378-6300T>A) c.1379T>A (p.Val460Asp) c.896T>A (p.Val299Asp) c.791T>A (p.Val264Asp) | |
3 | g.122275813T>C | CA354154780 | CASR | c.1378-6300T>C (n.1378-6300T>C) c.1379T>C (p.Val460Ala) c.896T>C (p.Val299Ala) c.791T>C (p.Val264Ala) | |
3 | g.122275813T>G | CA354154782 | CASR | c.1378-6300T>G (n.1378-6300T>G) c.1379T>G (p.Val460Gly) c.896T>G (p.Val299Gly) c.791T>G (p.Val264Gly) | |
3 | g.122275814C>A | CA435424739 | CASR | c.1378-6299C>A (n.1378-6299C>A) c.1380C>A (p.Val460=) c.897C>A (p.Val299=) c.792C>A (p.Val264=) | gnomAD v4 |
3 | g.122275814C>G | CA435424740 | CASR | c.1378-6299C>G (n.1378-6299C>G) c.1380C>G (p.Val460=) c.897C>G (p.Val299=) c.792C>G (p.Val264=) | |
3 | g.122275814C>T | CA435424741 | CASR | c.1378-6299C>T (n.1378-6299C>T) c.1380C>T (p.Val460=) c.897C>T (p.Val299=) c.792C>T (p.Val264=) | gnomAD v4 |
3 | g.122275815C>A | CA354154783 | CASR | c.1378-6298C>A (n.1378-6298C>A) c.1381C>A (p.Leu461Met) c.898C>A (p.Leu300Met) c.793C>A (p.Leu265Met) | |
3 | g.122275815C>G | CA354154785 | CASR | c.1378-6298C>G (n.1378-6298C>G) c.1381C>G (p.Leu461Val) c.898C>G (p.Leu300Val) c.793C>G (p.Leu265Val) | |
3 | g.122275815C>T | CA435424743 | CASR | c.1378-6298C>T (n.1378-6298C>T) c.1381C>T (p.Leu461=) c.898C>T (p.Leu300=) c.793C>T (p.Leu265=) | ClinVar dbSNP |
3 | g.122275816T>A | CA354154786 | CASR | c.1378-6297T>A (n.1378-6297T>A) c.1382T>A (p.Leu461Gln) c.899T>A (p.Leu300Gln) c.794T>A (p.Leu265Gln) | ClinVar dbSNP |
3 | g.122275816T>C | CA354154788 | CASR | c.1378-6297T>C (n.1378-6297T>C) c.1382T>C (p.Leu461Pro) c.899T>C (p.Leu300Pro) c.794T>C (p.Leu265Pro) | ClinVar dbSNP |
3 | g.122275816T>G | CA354154790 | CASR | c.1378-6297T>G (n.1378-6297T>G) c.1382T>G (p.Leu461Arg) c.899T>G (p.Leu300Arg) c.794T>G (p.Leu265Arg) | |
3 | g.122275816T= | CA1397883087 | CASR | c.1378-6297T= (n.1378-6297T=) c.1382T= (p.Leu461=) c.899T= (p.Leu300=) c.794T= (p.Leu265=) | |
3 | g.122275817G>A | CA435424748 | CASR | c.1378-6296G>A (n.1378-6296G>A) c.1383G>A (p.Leu461=) c.900G>A (p.Leu300=) c.795G>A (p.Leu265=) | ClinVar |
3 | g.122275817G>C | CA435424747 | CASR | c.1378-6296G>C (n.1378-6296G>C) c.1383G>C (p.Leu461=) c.900G>C (p.Leu300=) c.795G>C (p.Leu265=) | |
3 | g.122275817G>T | CA435424746 | CASR | c.1378-6296G>T (n.1378-6296G>T) c.1383G>T (p.Leu461=) c.900G>T (p.Leu300=) c.795G>T (p.Leu265=) | |
3 | g.122275818A>C | CA354154792 | CASR | c.1378-6295A>C (n.1378-6295A>C) c.1384A>C (p.Lys462Gln) c.901A>C (p.Lys301Gln) c.796A>C (p.Lys266Gln) | |
3 | g.122275818A>G | CA354154793 | CASR | c.1378-6295A>G (n.1378-6295A>G) c.1384A>G (p.Lys462Glu) c.901A>G (p.Lys301Glu) c.796A>G (p.Lys266Glu) | |
3 | g.122275818A>T | CA354154796 | CASR | c.1378-6295A>T (n.1378-6295A>T) c.1384A>T (p.Lys462Ter) c.901A>T (p.Lys301Ter) c.796A>T (p.Lys266Ter) | |
3 | g.122275819_122275822dup | CA2580068623 | CASR | c.1378-6294_1378-6291dup (n.1378-6294_1378-6291dup) c.1385_1388dup (p.His463GlnfsTer19) c.902_905dup (p.His302GlnfsTer19) c.797_800dup (p.His267GlnfsTer19) | ClinVar |
3 | g.122275819A>C | CA354154798 | CASR | c.1378-6294A>C (n.1378-6294A>C) c.1385A>C (p.Lys462Thr) c.902A>C (p.Lys301Thr) c.797A>C (p.Lys266Thr) | |
3 | g.122275819A>G | CA354154802 | CASR | c.1378-6294A>G (n.1378-6294A>G) c.1385A>G (p.Lys462Arg) c.902A>G (p.Lys301Arg) c.797A>G (p.Lys266Arg) | |
3 | g.122275819A>T | CA354154800 | CASR | c.1378-6294A>T (n.1378-6294A>T) c.1385A>T (p.Lys462Met) c.902A>T (p.Lys301Met) c.797A>T (p.Lys266Met) | |
3 | g.122275820G>A | CA435424751 | CASR | c.1378-6293G>A (n.1378-6293G>A) c.1386G>A (p.Lys462=) c.903G>A (p.Lys301=) c.798G>A (p.Lys266=) | ClinVar gnomAD v4 |
3 | g.122275820G>C | CA354154804 | CASR | c.1378-6293G>C (n.1378-6293G>C) c.1386G>C (p.Lys462Asn) c.903G>C (p.Lys301Asn) c.798G>C (p.Lys266Asn) | gnomAD v4 |
3 | g.122275820G>T | CA354154805 | CASR | c.1378-6293G>T (n.1378-6293G>T) c.1386G>T (p.Lys462Asn) c.903G>T (p.Lys301Asn) c.798G>T (p.Lys266Asn) | |
3 | g.122275821C>A | CA354154806 | CASR | c.1378-6292C>A (n.1378-6292C>A) c.1387C>A (p.His463Asn) c.904C>A (p.His302Asn) c.799C>A (p.His267Asn) | |
3 | g.122275821C= | CA1397883088 | CASR | c.1378-6292C= (n.1378-6292C=) c.1387C= (p.His463=) c.904C= (p.His302=) c.799C= (p.His267=) | |
3 | g.122275821C>G | CA354154807 | CASR | c.1378-6292C>G (n.1378-6292C>G) c.1387C>G (p.His463Asp) c.904C>G (p.His302Asp) c.799C>G (p.His267Asp) | |
3 | g.122275821C>T | CA354154809 | CASR | c.1378-6292C>T (n.1378-6292C>T) c.1387C>T (p.His463Tyr) c.904C>T (p.His302Tyr) c.799C>T (p.His267Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275822A>C | CA354154811 | CASR | c.1378-6291A>C (n.1378-6291A>C) c.1388A>C (p.His463Pro) c.905A>C (p.His302Pro) c.800A>C (p.His267Pro) | |
3 | g.122275822A>G | CA354154813 | CASR | c.1378-6291A>G (n.1378-6291A>G) c.1388A>G (p.His463Arg) c.905A>G (p.His302Arg) c.800A>G (p.His267Arg) | |
3 | g.122275822A>T | CA354154814 | CASR | c.1378-6291A>T (n.1378-6291A>T) c.1388A>T (p.His463Leu) c.905A>T (p.His302Leu) c.800A>T (p.His267Leu) | |
3 | g.122275823C>A | CA2569649 | CASR | c.1378-6290C>A (n.1378-6290C>A) c.1389C>A (p.His463Gln) c.906C>A (p.His302Gln) c.801C>A (p.His267Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275823C= | CA1397883089 | CASR | c.1378-6290C= (n.1378-6290C=) c.1389C= (p.His463=) c.906C= (p.His302=) c.801C= (p.His267=) | |
3 | g.122275823C>G | CA354154817 | CASR | c.1378-6290C>G (n.1378-6290C>G) c.1389C>G (p.His463Gln) c.906C>G (p.His302Gln) c.801C>G (p.His267Gln) | gnomAD v4 |
3 | g.122275823C>T | CA435424756 | CASR | c.1378-6290C>T (n.1378-6290C>T) c.1389C>T (p.His463=) c.906C>T (p.His302=) c.801C>T (p.His267=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275824C>A | CA354154819 | CASR | c.1378-6289C>A (n.1378-6289C>A) c.1390C>A (p.Leu464Ile) c.907C>A (p.Leu303Ile) c.802C>A (p.Leu268Ile) | |
3 | g.122275824C= | CA1397883090 | CASR | c.1378-6289C= (n.1378-6289C=) c.1390C= (p.Leu464=) c.907C= (p.Leu303=) c.802C= (p.Leu268=) | |
3 | g.122275824C>G | CA2569650 | CASR | c.1378-6289C>G (n.1378-6289C>G) c.1390C>G (p.Leu464Val) c.907C>G (p.Leu303Val) c.802C>G (p.Leu268Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275824C>T | CA435424758 | CASR | c.1378-6289C>T (n.1378-6289C>T) c.1390C>T (p.Leu464=) c.907C>T (p.Leu303=) c.802C>T (p.Leu268=) | gnomAD v4 |
3 | g.122275825T>A | CA354154822 | CASR | c.1378-6288T>A (n.1378-6288T>A) c.1391T>A (p.Leu464Gln) c.908T>A (p.Leu303Gln) c.803T>A (p.Leu268Gln) | |
3 | g.122275825T>C | CA354154823 | CASR | c.1378-6288T>C (n.1378-6288T>C) c.1391T>C (p.Leu464Pro) c.908T>C (p.Leu303Pro) c.803T>C (p.Leu268Pro) | dbSNP |
3 | g.122275825T>G | CA354154824 | CASR | c.1378-6288T>G (n.1378-6288T>G) c.1391T>G (p.Leu464Arg) c.908T>G (p.Leu303Arg) c.803T>G (p.Leu268Arg) | ClinVar |
3 | g.122275826A>C | CA435424763 | CASR | c.1378-6287A>C (n.1378-6287A>C) c.1392A>C (p.Leu464=) c.909A>C (p.Leu303=) c.804A>C (p.Leu268=) | |
3 | g.122275826A>G | CA435424764 | CASR | c.1378-6287A>G (n.1378-6287A>G) c.1392A>G (p.Leu464=) c.909A>G (p.Leu303=) c.804A>G (p.Leu268=) | ClinVar dbSNP |
3 | g.122275826A>T | CA435424765 | CASR | c.1378-6287A>T (n.1378-6287A>T) c.1392A>T (p.Leu464=) c.909A>T (p.Leu303=) c.804A>T (p.Leu268=) | |
3 | g.122275826_122275838del | CA2580618219 | CASR | c.1378-6287_1378-6275del (n.1378-6287_1378-6275del) c.1392_1404del (p.Arg465LeufsTer9) c.909_921del (p.Arg304LeufsTer9) c.804_816del (p.Arg269LeufsTer9) | |
3 | g.122275827C>A | CA435424766 | CASR | c.1378-6286C>A (n.1378-6286C>A) c.1393C>A (p.Arg465=) c.910C>A (p.Arg304=) c.805C>A (p.Arg269=) | gnomAD v4 |
3 | g.122275827C= | CA1397883091 | CASR | c.1378-6286C= (n.1378-6286C=) c.1393C= (p.Arg465=) c.910C= (p.Arg304=) c.805C= (p.Arg269=) | |
3 | g.122275827C>G | CA354154827 | CASR | c.1378-6286C>G (n.1378-6286C>G) c.1393C>G (p.Arg465Gly) c.910C>G (p.Arg304Gly) c.805C>G (p.Arg269Gly) | |
3 | g.122275827C>T | CA2569651 | CASR | c.1378-6286C>T (n.1378-6286C>T) c.1393C>T (p.Arg465Trp) c.910C>T (p.Arg304Trp) c.805C>T (p.Arg269Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122275828G>A | CA119537 | CASR | c.1378-6285G>A (n.1378-6285G>A) c.1394G>A (p.Arg465Gln) c.911G>A (p.Arg304Gln) c.806G>A (p.Arg269Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.122275828G>C | CA354154830 | CASR | c.1378-6285G>C (n.1378-6285G>C) c.1394G>C (p.Arg465Pro) c.911G>C (p.Arg304Pro) c.806G>C (p.Arg269Pro) | |
3 | g.122275828G= | CA1397883092 | CASR | c.1378-6285G= (n.1378-6285G=) c.1394G= (p.Arg465=) c.911G= (p.Arg304=) c.806G= (p.Arg269=) | |
3 | g.122275828G>T | CA354154832 | CASR | c.1378-6285G>T (n.1378-6285G>T) c.1394G>T (p.Arg465Leu) c.911G>T (p.Arg304Leu) c.806G>T (p.Arg269Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122275829G>A | CA216122 | CASR | c.1378-6284G>A (n.1378-6284G>A) c.1395G>A (p.Arg465=) c.912G>A (p.Arg304=) c.807G>A (p.Arg269=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275829G>C | CA435424769 | CASR | c.1378-6284G>C (n.1378-6284G>C) c.1395G>C (p.Arg465=) c.912G>C (p.Arg304=) c.807G>C (p.Arg269=) | ClinVar |
3 | g.122275829G= | CA1397883093 | CASR | c.1378-6284G= (n.1378-6284G=) c.1395G= (p.Arg465=) c.912G= (p.Arg304=) c.807G= (p.Arg269=) | |
3 | g.122275829G>T | CA435424770 | CASR | c.1378-6284G>T (n.1378-6284G>T) c.1395G>T (p.Arg465=) c.912G>T (p.Arg304=) c.807G>T (p.Arg269=) | |
3 | g.122275830C>A | CA354154835 | CASR | c.1378-6283C>A (n.1378-6283C>A) c.1396C>A (p.His466Asn) c.913C>A (p.His305Asn) c.808C>A (p.His270Asn) | |
3 | g.122275830C= | CA1397883094 | CASR | c.1378-6283C= (n.1378-6283C=) c.1396C= (p.His466=) c.913C= (p.His305=) c.808C= (p.His270=) | |
3 | g.122275830C>G | CA354154837 | CASR | c.1378-6283C>G (n.1378-6283C>G) c.1396C>G (p.His466Asp) c.913C>G (p.His305Asp) c.808C>G (p.His270Asp) | |
3 | g.122275830C>T | CA2569652 | CASR | c.1378-6283C>T (n.1378-6283C>T) c.1396C>T (p.His466Tyr) c.913C>T (p.His305Tyr) c.808C>T (p.His270Tyr) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122275831A>C | CA354154840 | CASR | c.1378-6282A>C (n.1378-6282A>C) c.1397A>C (p.His466Pro) c.914A>C (p.His305Pro) c.809A>C (p.His270Pro) | |
3 | g.122275831A>G | CA354154842 | CASR | c.1378-6282A>G (n.1378-6282A>G) c.1397A>G (p.His466Arg) c.914A>G (p.His305Arg) c.809A>G (p.His270Arg) | |
3 | g.122275831A>T | CA354154843 | CASR | c.1378-6282A>T (n.1378-6282A>T) c.1397A>T (p.His466Leu) c.914A>T (p.His305Leu) c.809A>T (p.His270Leu) | |
3 | g.122275832T>A | CA2569653 | CASR | c.1378-6281T>A (n.1378-6281T>A) c.1398T>A (p.His466Gln) c.915T>A (p.His305Gln) c.810T>A (p.His270Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275832T>C | CA82745910 | CASR | c.1378-6281T>C (n.1378-6281T>C) c.1398T>C (p.His466=) c.915T>C (p.His305=) c.810T>C (p.His270=) | ClinVar dbSNP |
3 | g.122275832T>G | CA354154846 | CASR | c.1378-6281T>G (n.1378-6281T>G) c.1398T>G (p.His466Gln) c.915T>G (p.His305Gln) c.810T>G (p.His270Gln) | |
3 | g.122275832T= | CA1397883095 | CASR | c.1378-6281T= (n.1378-6281T=) c.1398T= (p.His466=) c.915T= (p.His305=) c.810T= (p.His270=) | |
3 | g.122275833C>A | CA354154849 | CASR | c.1378-6280C>A (n.1378-6280C>A) c.1399C>A (p.Leu467Ile) c.916C>A (p.Leu306Ile) c.811C>A (p.Leu271Ile) | |
3 | g.122275833C>G | CA354154848 | CASR | c.1378-6280C>G (n.1378-6280C>G) c.1399C>G (p.Leu467Val) c.916C>G (p.Leu306Val) c.811C>G (p.Leu271Val) | |
3 | g.122275833C>T | CA435424778 | CASR | c.1378-6280C>T (n.1378-6280C>T) c.1399C>T (p.Leu467=) c.916C>T (p.Leu306=) c.811C>T (p.Leu271=) | |
3 | g.122275834T>A | CA354154850 | CASR | c.1378-6279T>A (n.1378-6279T>A) c.1400T>A (p.Leu467Gln) c.917T>A (p.Leu306Gln) c.812T>A (p.Leu271Gln) | |
3 | g.122275834T>C | CA354154852 | CASR | c.1378-6279T>C (n.1378-6279T>C) c.1400T>C (p.Leu467Pro) c.917T>C (p.Leu306Pro) c.812T>C (p.Leu271Pro) | |
3 | g.122275834T>G | CA354154854 | CASR | c.1378-6279T>G (n.1378-6279T>G) c.1400T>G (p.Leu467Arg) c.917T>G (p.Leu306Arg) c.812T>G (p.Leu271Arg) | |
3 | g.122275835A>C | CA435424780 | CASR | c.1378-6278A>C (n.1378-6278A>C) c.1401A>C (p.Leu467=) c.918A>C (p.Leu306=) c.813A>C (p.Leu271=) | |
3 | g.122275835A>G | CA435424781 | CASR | c.1378-6278A>G (n.1378-6278A>G) c.1401A>G (p.Leu467=) c.918A>G (p.Leu306=) c.813A>G (p.Leu271=) | |
3 | g.122275835A>T | CA435424782 | CASR | c.1378-6278A>T (n.1378-6278A>T) c.1401A>T (p.Leu467=) c.918A>T (p.Leu306=) c.813A>T (p.Leu271=) | |
3 | g.122275836A= | CA1397883096 | CASR | c.1378-6277A= (n.1378-6277A=) c.1402A= (p.Asn468=) c.919A= (p.Asn307=) c.814A= (p.Asn272=) | |
3 | g.122275836A>C | CA354154856 | CASR | c.1378-6277A>C (n.1378-6277A>C) c.1402A>C (p.Asn468His) c.919A>C (p.Asn307His) c.814A>C (p.Asn272His) | ClinVar dbSNP |
3 | g.122275836A>G | CA354154858 | CASR | c.1378-6277A>G (n.1378-6277A>G) c.1402A>G (p.Asn468Asp) c.919A>G (p.Asn307Asp) c.814A>G (p.Asn272Asp) | |
3 | g.122275836A>T | CA354154859 | CASR | c.1378-6277A>T (n.1378-6277A>T) c.1402A>T (p.Asn468Tyr) c.919A>T (p.Asn307Tyr) c.814A>T (p.Asn272Tyr) | |
3 | g.122275837A>C | CA354154865 | CASR | c.1378-6276A>C (n.1378-6276A>C) c.1403A>C (p.Asn468Thr) c.920A>C (p.Asn307Thr) c.815A>C (p.Asn272Thr) | |
3 | g.122275837A>G | CA354154861 | CASR | c.1378-6276A>G (n.1378-6276A>G) c.1403A>G (p.Asn468Ser) c.920A>G (p.Asn307Ser) c.815A>G (p.Asn272Ser) | COSMIC |
3 | g.122275837A>T | CA354154863 | CASR | c.1378-6276A>T (n.1378-6276A>T) c.1403A>T (p.Asn468Ile) c.920A>T (p.Asn307Ile) c.815A>T (p.Asn272Ile) | |
3 | g.122275838C>A | CA354154867 | CASR | c.1378-6275C>A (n.1378-6275C>A) c.1404C>A (p.Asn468Lys) c.921C>A (p.Asn307Lys) c.816C>A (p.Asn272Lys) | |
3 | g.122275838C>G | CA354154869 | CASR | c.1378-6275C>G (n.1378-6275C>G) c.1404C>G (p.Asn468Lys) c.921C>G (p.Asn307Lys) c.816C>G (p.Asn272Lys) | |
3 | g.122275838C>T | CA435424785 | CASR | c.1378-6275C>T (n.1378-6275C>T) c.1404C>T (p.Asn468=) c.921C>T (p.Asn307=) c.816C>T (p.Asn272=) | |
3 | g.122275839T>A | CA354154871 | CASR | c.1378-6274T>A (n.1378-6274T>A) c.1405T>A (p.Phe469Ile) c.922T>A (p.Phe308Ile) c.817T>A (p.Phe273Ile) | |
3 | g.122275839T>C | CA2569654 | CASR | c.1378-6274T>C (n.1378-6274T>C) c.1405T>C (p.Phe469Leu) c.922T>C (p.Phe308Leu) c.817T>C (p.Phe273Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275839T>G | CA354154874 | CASR | c.1378-6274T>G (n.1378-6274T>G) c.1405T>G (p.Phe469Val) c.922T>G (p.Phe308Val) c.817T>G (p.Phe273Val) | ClinVar |
3 | g.122275839T= | CA1397883097 | CASR | c.1378-6274T= (n.1378-6274T=) c.1405T= (p.Phe469=) c.922T= (p.Phe308=) c.817T= (p.Phe273=) | |
3 | g.122275840T>A | CA354154879 | CASR | c.1378-6273T>A (n.1378-6273T>A) c.1406T>A (p.Phe469Tyr) c.923T>A (p.Phe308Tyr) c.818T>A (p.Phe273Tyr) | |
3 | g.122275840T>C | CA354154876 | CASR | c.1378-6273T>C (n.1378-6273T>C) c.1406T>C (p.Phe469Ser) c.923T>C (p.Phe308Ser) c.818T>C (p.Phe273Ser) | |
3 | g.122275840T>G | CA354154877 | CASR | c.1378-6273T>G (n.1378-6273T>G) c.1406T>G (p.Phe469Cys) c.923T>G (p.Phe308Cys) c.818T>G (p.Phe273Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275840T= | CA1397883098 | CASR | c.1378-6273T= (n.1378-6273T=) c.1406T= (p.Phe469=) c.923T= (p.Phe308=) c.818T= (p.Phe273=) | |
3 | g.122275841T>A | CA354154881 | CASR | c.1378-6272T>A (n.1378-6272T>A) c.1407T>A (p.Phe469Leu) c.924T>A (p.Phe308Leu) c.819T>A (p.Phe273Leu) | |
3 | g.122275841T>C | CA435424787 | CASR | c.1378-6272T>C (n.1378-6272T>C) c.1407T>C (p.Phe469=) c.924T>C (p.Phe308=) c.819T>C (p.Phe273=) | |
3 | g.122275841T>G | CA354154883 | CASR | c.1378-6272T>G (n.1378-6272T>G) c.1407T>G (p.Phe469Leu) c.924T>G (p.Phe308Leu) c.819T>G (p.Phe273Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275841T= | CA1397883099 | CASR | c.1378-6272T= (n.1378-6272T=) c.1407T= (p.Phe469=) c.924T= (p.Phe308=) c.819T= (p.Phe273=) | |
3 | g.122275842A= | CA1397883100 | CASR | c.1378-6271A= (n.1378-6271A=) c.1408A= (p.Thr470=) c.925A= (p.Thr309=) c.820A= (p.Thr274=) | |
3 | g.122275842A>C | CA354154885 | CASR | c.1378-6271A>C (n.1378-6271A>C) c.1408A>C (p.Thr470Pro) c.925A>C (p.Thr309Pro) c.820A>C (p.Thr274Pro) | |
3 | g.122275842A>G | CA354154887 | CASR | c.1378-6271A>G (n.1378-6271A>G) c.1408A>G (p.Thr470Ala) c.925A>G (p.Thr309Ala) c.820A>G (p.Thr274Ala) | gnomAD v4 |
3 | g.122275842A>T | CA354154889 | CASR | c.1378-6271A>T (n.1378-6271A>T) c.1408A>T (p.Thr470Ser) c.925A>T (p.Thr309Ser) c.820A>T (p.Thr274Ser) | ClinVar dbSNP |
3 | g.122275843C>A | CA354154890 | CASR | c.1378-6270C>A (n.1378-6270C>A) c.1409C>A (p.Thr470Lys) c.926C>A (p.Thr309Lys) c.821C>A (p.Thr274Lys) | |
3 | g.122275843C>G | CA354154892 | CASR | c.1378-6270C>G (n.1378-6270C>G) c.1409C>G (p.Thr470Arg) c.926C>G (p.Thr309Arg) c.821C>G (p.Thr274Arg) | |
3 | g.122275843C>T | CA354154894 | CASR | c.1378-6270C>T (n.1378-6270C>T) c.1409C>T (p.Thr470Ile) c.926C>T (p.Thr309Ile) c.821C>T (p.Thr274Ile) | |
3 | g.122275844A= | CA1397883101 | CASR | c.1378-6269A= (n.1378-6269A=) c.1410A= (p.Thr470=) c.927A= (p.Thr309=) c.822A= (p.Thr274=) | |
3 | g.122275844A>C | CA82745914 | CASR | c.1378-6269A>C (n.1378-6269A>C) c.1410A>C (p.Thr470=) c.927A>C (p.Thr309=) c.822A>C (p.Thr274=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275844A>G | CA435424794 | CASR | c.1378-6269A>G (n.1378-6269A>G) c.1410A>G (p.Thr470=) c.927A>G (p.Thr309=) c.822A>G (p.Thr274=) | |
3 | g.122275844A>T | CA435424792 | CASR | c.1378-6269A>T (n.1378-6269A>T) c.1410A>T (p.Thr470=) c.927A>T (p.Thr309=) c.822A>T (p.Thr274=) | |
3 | g.122275845A>C | CA354154895 | CASR | c.1378-6268A>C (n.1378-6268A>C) c.1411A>C (p.Asn471His) c.928A>C (p.Asn310His) c.823A>C (p.Asn275His) | |
3 | g.122275845A>G | CA354154896 | CASR | c.1378-6268A>G (n.1378-6268A>G) c.1411A>G (p.Asn471Asp) c.928A>G (p.Asn310Asp) c.823A>G (p.Asn275Asp) | |
3 | g.122275845A>T | CA354154898 | CASR | c.1378-6268A>T (n.1378-6268A>T) c.1411A>T (p.Asn471Tyr) c.928A>T (p.Asn310Tyr) c.823A>T (p.Asn275Tyr) | |
3 | g.122275846A= | CA1397883102 | CASR | c.1378-6267A= (n.1378-6267A=) c.1412A= (p.Asn471=) c.929A= (p.Asn310=) c.824A= (p.Asn275=) | |
3 | g.122275846A>C | CA354154900 | CASR | c.1378-6267A>C (n.1378-6267A>C) c.1412A>C (p.Asn471Thr) c.929A>C (p.Asn310Thr) c.824A>C (p.Asn275Thr) | |
3 | g.122275846A>G | CA354154903 | CASR | c.1378-6267A>G (n.1378-6267A>G) c.1412A>G (p.Asn471Ser) c.929A>G (p.Asn310Ser) c.824A>G (p.Asn275Ser) | |
3 | g.122275846A>T | CA2569655 | CASR | c.1378-6267A>T (n.1378-6267A>T) c.1412A>T (p.Asn471Ile) c.929A>T (p.Asn310Ile) c.824A>T (p.Asn275Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275847C>A | CA354154905 | CASR | c.1378-6266C>A (n.1378-6266C>A) c.1413C>A (p.Asn471Lys) c.930C>A (p.Asn310Lys) c.825C>A (p.Asn275Lys) | |
3 | g.122275847C>G | CA354154906 | CASR | c.1378-6266C>G (n.1378-6266C>G) c.1413C>G (p.Asn471Lys) c.930C>G (p.Asn310Lys) c.825C>G (p.Asn275Lys) | |
3 | g.122275847C>T | CA435424798 | CASR | c.1378-6266C>T (n.1378-6266C>T) c.1413C>T (p.Asn471=) c.930C>T (p.Asn310=) c.825C>T (p.Asn275=) | ClinVar |
3 | g.122275848A>C | CA354154908 | CASR | c.1378-6265A>C (n.1378-6265A>C) c.1414A>C (p.Asn472His) c.931A>C (p.Asn311His) c.826A>C (p.Asn276His) | |
3 | g.122275848A>G | CA354154910 | CASR | c.1378-6265A>G (n.1378-6265A>G) c.1414A>G (p.Asn472Asp) c.931A>G (p.Asn311Asp) c.826A>G (p.Asn276Asp) | |
3 | g.122275848A>T | CA354154912 | CASR | c.1378-6265A>T (n.1378-6265A>T) c.1414A>T (p.Asn472Tyr) c.931A>T (p.Asn311Tyr) c.826A>T (p.Asn276Tyr) | gnomAD v4 |
3 | g.122275849A>C | CA354154914 | CASR | c.1378-6264A>C (n.1378-6264A>C) c.1415A>C (p.Asn472Thr) c.932A>C (p.Asn311Thr) c.827A>C (p.Asn276Thr) | ClinVar |
3 | g.122275849A>G | CA354154916 | CASR | c.1378-6264A>G (n.1378-6264A>G) c.1415A>G (p.Asn472Ser) c.932A>G (p.Asn311Ser) c.827A>G (p.Asn276Ser) | gnomAD v4 |
3 | g.122275849A>T | CA354154918 | CASR | c.1378-6264A>T (n.1378-6264A>T) c.1415A>T (p.Asn472Ile) c.932A>T (p.Asn311Ile) c.827A>T (p.Asn276Ile) | |
3 | g.122275850T>A | CA354154920 | CASR | c.1378-6263T>A (n.1378-6263T>A) c.1416T>A (p.Asn472Lys) c.933T>A (p.Asn311Lys) c.828T>A (p.Asn276Lys) | |
3 | g.122275850T>C | CA435424802 | CASR | c.1378-6263T>C (n.1378-6263T>C) c.1416T>C (p.Asn472=) c.933T>C (p.Asn311=) c.828T>C (p.Asn276=) | ClinVar dbSNP |
3 | g.122275850T>G | CA354154921 | CASR | c.1378-6263T>G (n.1378-6263T>G) c.1416T>G (p.Asn472Lys) c.933T>G (p.Asn311Lys) c.828T>G (p.Asn276Lys) | |
3 | g.122275850T= | CA1397883103 | CASR | c.1378-6263T= (n.1378-6263T=) c.1416T= (p.Asn472=) c.933T= (p.Asn311=) c.828T= (p.Asn276=) | |
3 | g.122275851A= | CA1397883104 | CASR | c.1378-6262A= (n.1378-6262A=) c.1417A= (p.Met473=) c.934A= (p.Met312=) c.829A= (p.Met277=) | |
3 | g.122275851A>C | CA354154924 | CASR | c.1378-6262A>C (n.1378-6262A>C) c.1417A>C (p.Met473Leu) c.934A>C (p.Met312Leu) c.829A>C (p.Met277Leu) | |
3 | g.122275851A>G | CA354154926 | CASR | c.1378-6262A>G (n.1378-6262A>G) c.1417A>G (p.Met473Val) c.934A>G (p.Met312Val) c.829A>G (p.Met277Val) | ClinVar dbSNP |
3 | g.122275851A>T | CA354154927 | CASR | c.1378-6262A>T (n.1378-6262A>T) c.1417A>T (p.Met473Leu) c.934A>T (p.Met312Leu) c.829A>T (p.Met277Leu) | |
3 | g.122275852T>A | CA354154932 | CASR | c.1378-6261T>A (n.1378-6261T>A) c.1418T>A (p.Met473Lys) c.935T>A (p.Met312Lys) c.830T>A (p.Met277Lys) | |
3 | g.122275852T>C | CA354154930 | CASR | c.1378-6261T>C (n.1378-6261T>C) c.1418T>C (p.Met473Thr) c.935T>C (p.Met312Thr) c.830T>C (p.Met277Thr) | ClinVar dbSNP |
3 | g.122275852T>G | CA354154928 | CASR | c.1378-6261T>G (n.1378-6261T>G) c.1418T>G (p.Met473Arg) c.935T>G (p.Met312Arg) c.830T>G (p.Met277Arg) | ClinVar |
3 | g.122275852T= | CA1397883105 | CASR | c.1378-6261T= (n.1378-6261T=) c.1418T= (p.Met473=) c.935T= (p.Met312=) c.830T= (p.Met277=) | |
3 | g.122275853G>A | CA354154934 | CASR | c.1378-6260G>A (n.1378-6260G>A) c.1419G>A (p.Met473Ile) c.936G>A (p.Met312Ile) c.831G>A (p.Met277Ile) | ClinVar dbSNP |
3 | g.122275853G>C | CA354154936 | CASR | c.1378-6260G>C (n.1378-6260G>C) c.1419G>C (p.Met473Ile) c.936G>C (p.Met312Ile) c.831G>C (p.Met277Ile) | gnomAD v4 |
3 | g.122275853G= | CA1397883106 | CASR | c.1378-6260G= (n.1378-6260G=) c.1419G= (p.Met473=) c.936G= (p.Met312=) c.831G= (p.Met277=) | |
3 | g.122275853G>T | CA354154938 | CASR | c.1378-6260G>T (n.1378-6260G>T) c.1419G>T (p.Met473Ile) c.936G>T (p.Met312Ile) c.831G>T (p.Met277Ile) | |
3 | g.122275857del | CA645532164 | CASR | c.1378-6256del (n.1378-6256del) c.1423del (p.Glu475SerfsTer3) c.940del (p.Glu314SerfsTer3) c.835del (p.Glu279SerfsTer3) | COSMIC |
3 | g.122275854G>A | CA354154940 | CASR | c.1378-6259G>A (n.1378-6259G>A) c.1420G>A (p.Gly474Arg) c.937G>A (p.Gly313Arg) c.832G>A (p.Gly278Arg) | ClinVar dbSNP |
3 | g.122275854G>C | CA354154942 | CASR | c.1378-6259G>C (n.1378-6259G>C) c.1420G>C (p.Gly474Arg) c.937G>C (p.Gly313Arg) c.832G>C (p.Gly278Arg) | |
3 | g.122275854G>T | CA354154944 | CASR | c.1378-6259G>T (n.1378-6259G>T) c.1420G>T (p.Gly474Trp) c.937G>T (p.Gly313Trp) c.832G>T (p.Gly278Trp) | |
3 | g.122275855G>A | CA354154946 | CASR | c.1378-6258G>A (n.1378-6258G>A) c.1421G>A (p.Gly474Glu) c.938G>A (p.Gly313Glu) c.833G>A (p.Gly278Glu) | |
3 | g.122275855G>C | CA354154948 | CASR | c.1378-6258G>C (n.1378-6258G>C) c.1421G>C (p.Gly474Ala) c.938G>C (p.Gly313Ala) c.833G>C (p.Gly278Ala) | |
3 | g.122275855G>T | CA354154950 | CASR | c.1378-6258G>T (n.1378-6258G>T) c.1421G>T (p.Gly474Val) c.938G>T (p.Gly313Val) c.833G>T (p.Gly278Val) | COSMIC |
3 | g.122275856G>A | CA435424806 | CASR | c.1378-6257G>A (n.1378-6257G>A) c.1422G>A (p.Gly474=) c.939G>A (p.Gly313=) c.834G>A (p.Gly278=) | COSMIC |
3 | g.122275856G>C | CA435424807 | CASR | c.1378-6257G>C (n.1378-6257G>C) c.1422G>C (p.Gly474=) c.939G>C (p.Gly313=) c.834G>C (p.Gly278=) | |
3 | g.122275856G>T | CA435424808 | CASR | c.1378-6257G>T (n.1378-6257G>T) c.1422G>T (p.Gly474=) c.939G>T (p.Gly313=) c.834G>T (p.Gly278=) | |
3 | g.122275857G>A | CA354154951 | CASR | c.1378-6256G>A (n.1378-6256G>A) c.1423G>A (p.Glu475Lys) c.940G>A (p.Glu314Lys) c.835G>A (p.Glu279Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122275857G>C | CA354154953 | CASR | c.1378-6256G>C (n.1378-6256G>C) c.1423G>C (p.Glu475Gln) c.940G>C (p.Glu314Gln) c.835G>C (p.Glu279Gln) | ClinVar dbSNP |
3 | g.122275857G= | CA1397883107 | CASR | c.1378-6256G= (n.1378-6256G=) c.1423G= (p.Glu475=) c.940G= (p.Glu314=) c.835G= (p.Glu279=) | |
3 | g.122275857G>T | CA354154955 | CASR | c.1378-6256G>T (n.1378-6256G>T) c.1423G>T (p.Glu475Ter) c.940G>T (p.Glu314Ter) c.835G>T (p.Glu279Ter) | gnomAD v4 |
3 | g.122275858A>C | CA354154961 | CASR | c.1378-6255A>C (n.1378-6255A>C) c.1424A>C (p.Glu475Ala) c.941A>C (p.Glu314Ala) c.836A>C (p.Glu279Ala) | |
3 | g.122275858A>G | CA354154958 | CASR | c.1378-6255A>G (n.1378-6255A>G) c.1424A>G (p.Glu475Gly) c.941A>G (p.Glu314Gly) c.836A>G (p.Glu279Gly) | |
3 | g.122275858A>T | CA354154957 | CASR | c.1378-6255A>T (n.1378-6255A>T) c.1424A>T (p.Glu475Val) c.941A>T (p.Glu314Val) c.836A>T (p.Glu279Val) | |
3 | g.122275859G>A | CA435424811 | CASR | c.1378-6254G>A (n.1378-6254G>A) c.1425G>A (p.Glu475=) c.942G>A (p.Glu314=) c.837G>A (p.Glu279=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275859G>C | CA354154962 | CASR | c.1378-6254G>C (n.1378-6254G>C) c.1425G>C (p.Glu475Asp) c.942G>C (p.Glu314Asp) c.837G>C (p.Glu279Asp) | COSMIC |
3 | g.122275859G>T | CA354154965 | CASR | c.1378-6254G>T (n.1378-6254G>T) c.1425G>T (p.Glu475Asp) c.942G>T (p.Glu314Asp) c.837G>T (p.Glu279Asp) | ClinVar dbSNP |
3 | g.122275860C>A | CA354154967 | CASR | c.1378-6253C>A (n.1378-6253C>A) c.1426C>A (p.Gln476Lys) c.943C>A (p.Gln315Lys) c.838C>A (p.Gln280Lys) | ClinVar gnomAD v4 |
3 | g.122275860C>G | CA354154968 | CASR | c.1378-6253C>G (n.1378-6253C>G) c.1426C>G (p.Gln476Glu) c.943C>G (p.Gln315Glu) c.838C>G (p.Gln280Glu) | ClinVar gnomAD v4 |
3 | g.122275860C>T | CA354154970 | CASR | c.1378-6253C>T (n.1378-6253C>T) c.1426C>T (p.Gln476Ter) c.943C>T (p.Gln315Ter) c.838C>T (p.Gln280Ter) | |
3 | g.122275861A= | CA1397883108 | CASR | c.1378-6252A= (n.1378-6252A=) c.1427A= (p.Gln476=) c.944A= (p.Gln315=) c.839A= (p.Gln280=) | |
3 | g.122275861A>C | CA354154972 | CASR | c.1378-6252A>C (n.1378-6252A>C) c.1427A>C (p.Gln476Pro) c.944A>C (p.Gln315Pro) c.839A>C (p.Gln280Pro) | |
3 | g.122275861A>G | CA2569656 | CASR | c.1378-6252A>G (n.1378-6252A>G) c.1427A>G (p.Gln476Arg) c.944A>G (p.Gln315Arg) c.839A>G (p.Gln280Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275861A>T | CA354154974 | CASR | c.1378-6252A>T (n.1378-6252A>T) c.1427A>T (p.Gln476Leu) c.944A>T (p.Gln315Leu) c.839A>T (p.Gln280Leu) | |
3 | g.122275862G>A | CA435424821 | CASR | c.1378-6251G>A (n.1378-6251G>A) c.1428G>A (p.Gln476=) c.945G>A (p.Gln315=) c.840G>A (p.Gln280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275862G>C | CA354154976 | CASR | c.1378-6251G>C (n.1378-6251G>C) c.1428G>C (p.Gln476His) c.945G>C (p.Gln315His) c.840G>C (p.Gln280His) | |
3 | g.122275862G= | CA1397883109 | CASR | c.1378-6251G= (n.1378-6251G=) c.1428G= (p.Gln476=) c.945G= (p.Gln315=) c.840G= (p.Gln280=) | |
3 | g.122275862G>T | CA354154978 | CASR | c.1378-6251G>T (n.1378-6251G>T) c.1428G>T (p.Gln476His) c.945G>T (p.Gln315His) c.840G>T (p.Gln280His) | |
3 | g.122275863G>A | CA354154980 | CASR | c.1378-6250G>A (n.1378-6250G>A) c.1429G>A (p.Val477Met) c.946G>A (p.Val316Met) c.841G>A (p.Val281Met) | ClinVar dbSNP |
3 | g.122275863G>C | CA354154981 | CASR | c.1378-6250G>C (n.1378-6250G>C) c.1429G>C (p.Val477Leu) c.946G>C (p.Val316Leu) c.841G>C (p.Val281Leu) | |
3 | g.122275863G= | CA1397883110 | CASR | c.1378-6250G= (n.1378-6250G=) c.1429G= (p.Val477=) c.946G= (p.Val316=) c.841G= (p.Val281=) | |
3 | g.122275863G>T | CA354154983 | CASR | c.1378-6250G>T (n.1378-6250G>T) c.1429G>T (p.Val477Leu) c.946G>T (p.Val316Leu) c.841G>T (p.Val281Leu) | |
3 | g.122275864T>A | CA354154987 | CASR | c.1378-6249T>A (n.1378-6249T>A) c.1430T>A (p.Val477Glu) c.947T>A (p.Val316Glu) c.842T>A (p.Val281Glu) | |
3 | g.122275864T>C | CA2569657 | CASR | c.1378-6249T>C (n.1378-6249T>C) c.1430T>C (p.Val477Ala) c.947T>C (p.Val316Ala) c.842T>C (p.Val281Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275864T>G | CA354154985 | CASR | c.1378-6249T>G (n.1378-6249T>G) c.1430T>G (p.Val477Gly) c.947T>G (p.Val316Gly) c.842T>G (p.Val281Gly) | |
3 | g.122275864T= | CA1397883111 | CASR | c.1378-6249T= (n.1378-6249T=) c.1430T= (p.Val477=) c.947T= (p.Val316=) c.842T= (p.Val281=) | |
3 | g.122275865G>A | CA435424828 | CASR | c.1378-6248G>A (n.1378-6248G>A) c.1431G>A (p.Val477=) c.948G>A (p.Val316=) c.843G>A (p.Val281=) | |
3 | g.122275865G>C | CA435424827 | CASR | c.1378-6248G>C (n.1378-6248G>C) c.1431G>C (p.Val477=) c.948G>C (p.Val316=) c.843G>C (p.Val281=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275865G= | CA1397883112 | CASR | c.1378-6248G= (n.1378-6248G=) c.1431G= (p.Val477=) c.948G= (p.Val316=) c.843G= (p.Val281=) | |
3 | g.122275865G>T | CA435424826 | CASR | c.1378-6248G>T (n.1378-6248G>T) c.1431G>T (p.Val477=) c.948G>T (p.Val316=) c.843G>T (p.Val281=) | |
3 | g.122275866A>C | CA354154989 | CASR | c.1378-6247A>C (n.1378-6247A>C) c.1432A>C (p.Thr478Pro) c.949A>C (p.Thr317Pro) c.844A>C (p.Thr282Pro) | |
3 | g.122275866A>G | CA354154990 | CASR | c.1378-6247A>G (n.1378-6247A>G) c.1432A>G (p.Thr478Ala) c.949A>G (p.Thr317Ala) c.844A>G (p.Thr282Ala) | gnomAD v4 |
3 | g.122275866A>T | CA354154991 | CASR | c.1378-6247A>T (n.1378-6247A>T) c.1432A>T (p.Thr478Ser) c.949A>T (p.Thr317Ser) c.844A>T (p.Thr282Ser) | |
3 | g.122275867C>A | CA354154994 | CASR | c.1378-6246C>A (n.1378-6246C>A) c.1433C>A (p.Thr478Asn) c.950C>A (p.Thr317Asn) c.845C>A (p.Thr282Asn) | |
3 | g.122275867C>G | CA354154996 | CASR | c.1378-6246C>G (n.1378-6246C>G) c.1433C>G (p.Thr478Ser) c.950C>G (p.Thr317Ser) c.845C>G (p.Thr282Ser) | |
3 | g.122275867C>T | CA354154997 | CASR | c.1378-6246C>T (n.1378-6246C>T) c.1433C>T (p.Thr478Ile) c.950C>T (p.Thr317Ile) c.845C>T (p.Thr282Ile) | gnomAD v4 |
3 | g.122275868C>A | CA435424835 | CASR | c.1378-6245C>A (n.1378-6245C>A) c.1434C>A (p.Thr478=) c.951C>A (p.Thr317=) c.846C>A (p.Thr282=) | dbSNP |
3 | g.122275868C= | CA1397883113 | CASR | c.1378-6245C= (n.1378-6245C=) c.1434C= (p.Thr478=) c.951C= (p.Thr317=) c.846C= (p.Thr282=) | |
3 | g.122275868C>G | CA435424836 | CASR | c.1378-6245C>G (n.1378-6245C>G) c.1434C>G (p.Thr478=) c.951C>G (p.Thr317=) c.846C>G (p.Thr282=) | |
3 | g.122275868C>T | CA435424837 | CASR | c.1378-6245C>T (n.1378-6245C>T) c.1434C>T (p.Thr478=) c.951C>T (p.Thr317=) c.846C>T (p.Thr282=) | |
3 | g.122275869T>A | CA354154999 | CASR | c.1378-6244T>A (n.1378-6244T>A) c.1435T>A (p.Phe479Ile) c.952T>A (p.Phe318Ile) c.847T>A (p.Phe283Ile) | |
3 | g.122275869T>C | CA82745923 | CASR | c.1378-6244T>C (n.1378-6244T>C) c.1435T>C (p.Phe479Leu) c.952T>C (p.Phe318Leu) c.847T>C (p.Phe283Leu) | dbSNP |
3 | g.122275869T>G | CA354155003 | CASR | c.1378-6244T>G (n.1378-6244T>G) c.1435T>G (p.Phe479Val) c.952T>G (p.Phe318Val) c.847T>G (p.Phe283Val) | |
3 | g.122275869T= | CA1397883114 | CASR | c.1378-6244T= (n.1378-6244T=) c.1435T= (p.Phe479=) c.952T= (p.Phe318=) c.847T= (p.Phe283=) | |
3 | g.122275870T>A | CA354155005 | CASR | c.1378-6243T>A (n.1378-6243T>A) c.1436T>A (p.Phe479Tyr) c.953T>A (p.Phe318Tyr) c.848T>A (p.Phe283Tyr) | |
3 | g.122275870T>C | CA354155008 | CASR | c.1378-6243T>C (n.1378-6243T>C) c.1436T>C (p.Phe479Ser) c.953T>C (p.Phe318Ser) c.848T>C (p.Phe283Ser) | |
3 | g.122275870T>G | CA354155010 | CASR | c.1378-6243T>G (n.1378-6243T>G) c.1436T>G (p.Phe479Cys) c.953T>G (p.Phe318Cys) c.848T>G (p.Phe283Cys) | |
3 | g.122275871T>A | CA354155014 | CASR | c.1378-6242T>A (n.1378-6242T>A) c.1437T>A (p.Phe479Leu) c.954T>A (p.Phe318Leu) c.849T>A (p.Phe283Leu) | |
3 | g.122275871T>C | CA2569658 | CASR | c.1378-6242T>C (n.1378-6242T>C) c.1437T>C (p.Phe479=) c.954T>C (p.Phe318=) c.849T>C (p.Phe283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275871T>G | CA354155012 | CASR | c.1378-6242T>G (n.1378-6242T>G) c.1437T>G (p.Phe479Leu) c.954T>G (p.Phe318Leu) c.849T>G (p.Phe283Leu) | |
3 | g.122275871T= | CA1397883115 | CASR | c.1378-6242T= (n.1378-6242T=) c.1437T= (p.Phe479=) c.954T= (p.Phe318=) c.849T= (p.Phe283=) | |
3 | g.122275872G>A | CA354155019 | CASR | c.1378-6241G>A (n.1378-6241G>A) c.1438G>A (p.Asp480Asn) c.955G>A (p.Asp319Asn) c.850G>A (p.Asp284Asn) | |
3 | g.122275872G>C | CA354155018 | CASR | c.1378-6241G>C (n.1378-6241G>C) c.1438G>C (p.Asp480His) c.955G>C (p.Asp319His) c.850G>C (p.Asp284His) | |
3 | g.122275872G>T | CA354155022 | CASR | c.1378-6241G>T (n.1378-6241G>T) c.1438G>T (p.Asp480Tyr) c.955G>T (p.Asp319Tyr) c.850G>T (p.Asp284Tyr) | |
3 | g.122275873A= | CA1397883116 | CASR | c.1378-6240A= (n.1378-6240A=) c.1439A= (p.Asp480=) c.956A= (p.Asp319=) c.851A= (p.Asp284=) | |
3 | g.122275873A>C | CA354155025 | CASR | c.1378-6240A>C (n.1378-6240A>C) c.1439A>C (p.Asp480Ala) c.956A>C (p.Asp319Ala) c.851A>C (p.Asp284Ala) | |
3 | g.122275873A>G | CA354155028 | CASR | c.1378-6240A>G (n.1378-6240A>G) c.1439A>G (p.Asp480Gly) c.956A>G (p.Asp319Gly) c.851A>G (p.Asp284Gly) | |
3 | g.122275873A>T | CA354155026 | CASR | c.1378-6240A>T (n.1378-6240A>T) c.1439A>T (p.Asp480Val) c.956A>T (p.Asp319Val) c.851A>T (p.Asp284Val) | ClinVar dbSNP |
3 | g.122275874T>A | CA354155030 | CASR | c.1378-6239T>A (n.1378-6239T>A) c.1440T>A (p.Asp480Glu) c.957T>A (p.Asp319Glu) c.852T>A (p.Asp284Glu) | ClinVar |
3 | g.122275874T>C | CA435424848 | CASR | c.1378-6239T>C (n.1378-6239T>C) c.1440T>C (p.Asp480=) c.957T>C (p.Asp319=) c.852T>C (p.Asp284=) | |
3 | g.122275874T>G | CA354155033 | CASR | c.1378-6239T>G (n.1378-6239T>G) c.1440T>G (p.Asp480Glu) c.957T>G (p.Asp319Glu) c.852T>G (p.Asp284Glu) | |
3 | g.122275875G>A | CA354155035 | CASR | c.1378-6238G>A (n.1378-6238G>A) c.1441G>A (p.Glu481Lys) c.958G>A (p.Glu320Lys) c.853G>A (p.Glu285Lys) | ClinVar |
3 | g.122275875G>C | CA354155039 | CASR | c.1378-6238G>C (n.1378-6238G>C) c.1441G>C (p.Glu481Gln) c.958G>C (p.Glu320Gln) c.853G>C (p.Glu285Gln) | |
3 | g.122275875G>T | CA354155037 | CASR | c.1378-6238G>T (n.1378-6238G>T) c.1441G>T (p.Glu481Ter) c.958G>T (p.Glu320Ter) c.853G>T (p.Glu285Ter) | |
3 | g.122275876A>C | CA354155041 | CASR | c.1378-6237A>C (n.1378-6237A>C) c.1442A>C (p.Glu481Ala) c.959A>C (p.Glu320Ala) c.854A>C (p.Glu285Ala) | gnomAD v4 |
3 | g.122275876A>G | CA354155044 | CASR | c.1378-6237A>G (n.1378-6237A>G) c.1442A>G (p.Glu481Gly) c.959A>G (p.Glu320Gly) c.854A>G (p.Glu285Gly) | ClinVar |
3 | g.122275876A>T | CA354155043 | CASR | c.1378-6237A>T (n.1378-6237A>T) c.1442A>T (p.Glu481Val) c.959A>T (p.Glu320Val) c.854A>T (p.Glu285Val) | |
3 | g.122275877G>A | CA435424852 | CASR | c.1378-6236G>A (n.1378-6236G>A) c.1443G>A (p.Glu481=) c.960G>A (p.Glu320=) c.855G>A (p.Glu285=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275877G>C | CA354155046 | CASR | c.1378-6236G>C (n.1378-6236G>C) c.1443G>C (p.Glu481Asp) c.960G>C (p.Glu320Asp) c.855G>C (p.Glu285Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275877G= | CA1397883117 | CASR | c.1378-6236G= (n.1378-6236G=) c.1443G= (p.Glu481=) c.960G= (p.Glu320=) c.855G= (p.Glu285=) | |
3 | g.122275877G>T | CA354155048 | CASR | c.1378-6236G>T (n.1378-6236G>T) c.1443G>T (p.Glu481Asp) c.960G>T (p.Glu320Asp) c.855G>T (p.Glu285Asp) | |
3 | g.122275881_122275882insTTGGGTGTGTTTGGTTGTGTG | CA2758179101 | CASR | c.1378-6232_1378-6231insTTGGGTGTGTTTGGTTGTGTG (n.1378-6232_1378-6231insTTGGGTGTGTTTGGTTGTGTG) c.1447_1448insTTGGGTGTGTTTGGTTGTGTG (p.Cys482_Gly483insValGlyCysValTrpLeuCys) c.964_965insTTGGGTGTGTTTGGTTGTGTG (p.Cys321_Gly322insValGlyCysValTrpLeuCys) c.859_860insTTGGGTGTGTTTGGTTGTGTG (p.Cys286_Gly287insValGlyCysValTrpLeuCys) | |
3 | g.122275878T>A | CA2569659 | CASR | c.1378-6235T>A (n.1378-6235T>A) c.1444T>A (p.Cys482Ser) c.961T>A (p.Cys321Ser) c.856T>A (p.Cys286Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275878T>C | CA354155052 | CASR | c.1378-6235T>C (n.1378-6235T>C) c.1444T>C (p.Cys482Arg) c.961T>C (p.Cys321Arg) c.856T>C (p.Cys286Arg) | ClinVar dbSNP |
3 | g.122275878T>G | CA354155054 | CASR | c.1378-6235T>G (n.1378-6235T>G) c.1444T>G (p.Cys482Gly) c.961T>G (p.Cys321Gly) c.856T>G (p.Cys286Gly) | ClinVar |
3 | g.122275878T= | CA1397883118 | CASR | c.1378-6235T= (n.1378-6235T=) c.1444T= (p.Cys482=) c.961T= (p.Cys321=) c.856T= (p.Cys286=) | |
3 | g.122275879G>A | CA2569660 | CASR | c.1378-6234G>A (n.1378-6234G>A) c.1445G>A (p.Cys482Tyr) c.962G>A (p.Cys321Tyr) c.857G>A (p.Cys286Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275879G>C | CA354155056 | CASR | c.1378-6234G>C (n.1378-6234G>C) c.1445G>C (p.Cys482Ser) c.962G>C (p.Cys321Ser) c.857G>C (p.Cys286Ser) | |
3 | g.122275879G= | CA1397883119 | CASR | c.1378-6234G= (n.1378-6234G=) c.1445G= (p.Cys482=) c.962G= (p.Cys321=) c.857G= (p.Cys286=) | |
3 | g.122275879G>T | CA354155059 | CASR | c.1378-6234G>T (n.1378-6234G>T) c.1445G>T (p.Cys482Phe) c.962G>T (p.Cys321Phe) c.857G>T (p.Cys286Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275880T>A | CA354155066 | CASR | c.1378-6233T>A (n.1378-6233T>A) c.1446T>A (p.Cys482Ter) c.963T>A (p.Cys321Ter) c.858T>A (p.Cys286Ter) | |
3 | g.122275880T>C | CA435424857 | CASR | c.1378-6233T>C (n.1378-6233T>C) c.1446T>C (p.Cys482=) c.963T>C (p.Cys321=) c.858T>C (p.Cys286=) | ClinVar gnomAD v4 |
3 | g.122275880T>G | CA354155067 | CASR | c.1378-6233T>G (n.1378-6233T>G) c.1446T>G (p.Cys482Trp) c.963T>G (p.Cys321Trp) c.858T>G (p.Cys286Trp) | |
3 | g.122275881G>A | CA354155069 | CASR | c.1378-6232G>A (n.1378-6232G>A) c.1447G>A (p.Gly483Ser) c.964G>A (p.Gly322Ser) c.859G>A (p.Gly287Ser) | dbSNP |
3 | g.122275881G>C | CA354155071 | CASR | c.1378-6232G>C (n.1378-6232G>C) c.1447G>C (p.Gly483Arg) c.964G>C (p.Gly322Arg) c.859G>C (p.Gly287Arg) | |
3 | g.122275881G>T | CA354155073 | CASR | c.1378-6232G>T (n.1378-6232G>T) c.1447G>T (p.Gly483Cys) c.964G>T (p.Gly322Cys) c.859G>T (p.Gly287Cys) | |
3 | g.122275882G>A | CA354155079 | CASR | c.1378-6231G>A (n.1378-6231G>A) c.1448G>A (p.Gly483Asp) c.965G>A (p.Gly322Asp) c.860G>A (p.Gly287Asp) | |
3 | g.122275882G>C | CA354155076 | CASR | c.1378-6231G>C (n.1378-6231G>C) c.1448G>C (p.Gly483Ala) c.965G>C (p.Gly322Ala) c.860G>C (p.Gly287Ala) | |
3 | g.122275882G>T | CA354155077 | CASR | c.1378-6231G>T (n.1378-6231G>T) c.1448G>T (p.Gly483Val) c.965G>T (p.Gly322Val) c.860G>T (p.Gly287Val) | |
3 | g.122275883T>A | CA435424864 | CASR | c.1378-6230T>A (n.1378-6230T>A) c.1449T>A (p.Gly483=) c.966T>A (p.Gly322=) c.861T>A (p.Gly287=) | |
3 | g.122275883T>C | CA435424865 | CASR | c.1378-6230T>C (n.1378-6230T>C) c.1449T>C (p.Gly483=) c.966T>C (p.Gly322=) c.861T>C (p.Gly287=) | ClinVar dbSNP |
3 | g.122275883T>G | CA2569661 | CASR | c.1378-6230T>G (n.1378-6230T>G) c.1449T>G (p.Gly483=) c.966T>G (p.Gly322=) c.861T>G (p.Gly287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275883T= | CA1397883120 | CASR | c.1378-6230T= (n.1378-6230T=) c.1449T= (p.Gly483=) c.966T= (p.Gly322=) c.861T= (p.Gly287=) | |
3 | g.122275884G>A | CA354155082 | CASR | c.1378-6229G>A (n.1378-6229G>A) c.1450G>A (p.Asp484Asn) c.967G>A (p.Asp323Asn) c.862G>A (p.Asp288Asn) | |
3 | g.122275884G>C | CA354155084 | CASR | c.1378-6229G>C (n.1378-6229G>C) c.1450G>C (p.Asp484His) c.967G>C (p.Asp323His) c.862G>C (p.Asp288His) | |
3 | g.122275884G>T | CA354155086 | CASR | c.1378-6229G>T (n.1378-6229G>T) c.1450G>T (p.Asp484Tyr) c.967G>T (p.Asp323Tyr) c.862G>T (p.Asp288Tyr) | |
3 | g.122275885A>C | CA354155088 | CASR | c.1378-6228A>C (n.1378-6228A>C) c.1451A>C (p.Asp484Ala) c.968A>C (p.Asp323Ala) c.863A>C (p.Asp288Ala) | |
3 | g.122275885A>G | CA354155090 | CASR | c.1378-6228A>G (n.1378-6228A>G) c.1451A>G (p.Asp484Gly) c.968A>G (p.Asp323Gly) c.863A>G (p.Asp288Gly) | |
3 | g.122275885A>T | CA354155092 | CASR | c.1378-6228A>T (n.1378-6228A>T) c.1451A>T (p.Asp484Val) c.968A>T (p.Asp323Val) c.863A>T (p.Asp288Val) | |
3 | g.122275886C>A | CA354155093 | CASR | c.1378-6227C>A (n.1378-6227C>A) c.1452C>A (p.Asp484Glu) c.969C>A (p.Asp323Glu) c.864C>A (p.Asp288Glu) | gnomAD v4 |
3 | g.122275886C= | CA1397883121 | CASR | c.1378-6227C= (n.1378-6227C=) c.1452C= (p.Asp484=) c.969C= (p.Asp323=) c.864C= (p.Asp288=) | |
3 | g.122275886C>G | CA354155095 | CASR | c.1378-6227C>G (n.1378-6227C>G) c.1452C>G (p.Asp484Glu) c.969C>G (p.Asp323Glu) c.864C>G (p.Asp288Glu) | |
3 | g.122275886C>T | CA2569662 | CASR | c.1378-6227C>T (n.1378-6227C>T) c.1452C>T (p.Asp484=) c.969C>T (p.Asp323=) c.864C>T (p.Asp288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275887C>A | CA354155099 | CASR | c.1378-6226C>A (n.1378-6226C>A) c.1453C>A (p.Leu485Met) c.970C>A (p.Leu324Met) c.865C>A (p.Leu289Met) | |
3 | g.122275887C>G | CA354155097 | CASR | c.1378-6226C>G (n.1378-6226C>G) c.1453C>G (p.Leu485Val) c.970C>G (p.Leu324Val) c.865C>G (p.Leu289Val) | |
3 | g.122275887C>T | CA435424877 | CASR | c.1378-6226C>T (n.1378-6226C>T) c.1453C>T (p.Leu485=) c.970C>T (p.Leu324=) c.865C>T (p.Leu289=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275888T>A | CA354155101 | CASR | c.1378-6225T>A (n.1378-6225T>A) c.1454T>A (p.Leu485Gln) c.971T>A (p.Leu324Gln) c.866T>A (p.Leu289Gln) | |
3 | g.122275888T>C | CA354155102 | CASR | c.1378-6225T>C (n.1378-6225T>C) c.1454T>C (p.Leu485Pro) c.971T>C (p.Leu324Pro) c.866T>C (p.Leu289Pro) | |
3 | g.122275888T>G | CA354155104 | CASR | c.1378-6225T>G (n.1378-6225T>G) c.1454T>G (p.Leu485Arg) c.971T>G (p.Leu324Arg) c.866T>G (p.Leu289Arg) | |
3 | g.122275889G>A | CA435424879 | CASR | c.1378-6224G>A (n.1378-6224G>A) c.1455G>A (p.Leu485=) c.972G>A (p.Leu324=) c.867G>A (p.Leu289=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275889G>C | CA435424880 | CASR | c.1378-6224G>C (n.1378-6224G>C) c.1455G>C (p.Leu485=) c.972G>C (p.Leu324=) c.867G>C (p.Leu289=) | COSMIC |
3 | g.122275889G= | CA1397883122 | CASR | c.1378-6224G= (n.1378-6224G=) c.1455G= (p.Leu485=) c.972G= (p.Leu324=) c.867G= (p.Leu289=) | |
3 | g.122275889G>T | CA435424881 | CASR | c.1378-6224G>T (n.1378-6224G>T) c.1455G>T (p.Leu485=) c.972G>T (p.Leu324=) c.867G>T (p.Leu289=) | |
3 | g.122275890G>A | CA82745948 | CASR | c.1378-6223G>A (n.1378-6223G>A) c.1456G>A (p.Val486Met) c.973G>A (p.Val325Met) c.868G>A (p.Val290Met) | ClinVar dbSNP |
3 | g.122275890G>C | CA354155106 | CASR | c.1378-6223G>C (n.1378-6223G>C) c.1456G>C (p.Val486Leu) c.973G>C (p.Val325Leu) c.868G>C (p.Val290Leu) | |
3 | g.122275890G= | CA1397883123 | CASR | c.1378-6223G= (n.1378-6223G=) c.1456G= (p.Val486=) c.973G= (p.Val325=) c.868G= (p.Val290=) | |
3 | g.122275890G>T | CA2569663 | CASR | c.1378-6223G>T (n.1378-6223G>T) c.1456G>T (p.Val486Leu) c.973G>T (p.Val325Leu) c.868G>T (p.Val290Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275891T>A | CA354155108 | CASR | c.1378-6222T>A (n.1378-6222T>A) c.1457T>A (p.Val486Glu) c.974T>A (p.Val325Glu) c.869T>A (p.Val290Glu) | COSMIC |
3 | g.122275891T>C | CA354155109 | CASR | c.1378-6222T>C (n.1378-6222T>C) c.1457T>C (p.Val486Ala) c.974T>C (p.Val325Ala) c.869T>C (p.Val290Ala) | |
3 | g.122275891T>G | CA354155110 | CASR | c.1378-6222T>G (n.1378-6222T>G) c.1457T>G (p.Val486Gly) c.974T>G (p.Val325Gly) c.869T>G (p.Val290Gly) | |
3 | g.122275892G>A | CA435424886 | CASR | c.1378-6221G>A (n.1378-6221G>A) c.1458G>A (p.Val486=) c.975G>A (p.Val325=) c.870G>A (p.Val290=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275892G>C | CA435424888 | CASR | c.1378-6221G>C (n.1378-6221G>C) c.1458G>C (p.Val486=) c.975G>C (p.Val325=) c.870G>C (p.Val290=) | |
3 | g.122275892G= | CA1397883124 | CASR | c.1378-6221G= (n.1378-6221G=) c.1458G= (p.Val486=) c.975G= (p.Val325=) c.870G= (p.Val290=) | |
3 | g.122275892G>T | CA435424891 | CASR | c.1378-6221G>T (n.1378-6221G>T) c.1458G>T (p.Val486=) c.975G>T (p.Val325=) c.870G>T (p.Val290=) | |
3 | g.122275893G>A | CA354155112 | CASR | c.1378-6220G>A (n.1378-6220G>A) c.1459G>A (p.Gly487Arg) c.976G>A (p.Gly326Arg) c.871G>A (p.Gly291Arg) | ClinVar dbSNP |
3 | g.122275893G>C | CA354155114 | CASR | c.1378-6220G>C (n.1378-6220G>C) c.1459G>C (p.Gly487Arg) c.976G>C (p.Gly326Arg) c.871G>C (p.Gly291Arg) | |
3 | g.122275893G= | CA1397883125 | CASR | c.1378-6220G= (n.1378-6220G=) c.1459G= (p.Gly487=) c.976G= (p.Gly326=) c.871G= (p.Gly291=) | |
3 | g.122275893G>T | CA354155115 | CASR | c.1378-6220G>T (n.1378-6220G>T) c.1459G>T (p.Gly487Trp) c.976G>T (p.Gly326Trp) c.871G>T (p.Gly291Trp) | |
3 | g.122275894G>A | CA354155121 | CASR | c.1378-6219G>A (n.1378-6219G>A) c.1460G>A (p.Gly487Glu) c.977G>A (p.Gly326Glu) c.872G>A (p.Gly291Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275894G>C | CA354155117 | CASR | c.1378-6219G>C (n.1378-6219G>C) c.1460G>C (p.Gly487Ala) c.977G>C (p.Gly326Ala) c.872G>C (p.Gly291Ala) | |
3 | g.122275894G= | CA1397883126 | CASR | c.1378-6219G= (n.1378-6219G=) c.1460G= (p.Gly487=) c.977G= (p.Gly326=) c.872G= (p.Gly291=) | |
3 | g.122275894G>T | CA354155119 | CASR | c.1378-6219G>T (n.1378-6219G>T) c.1460G>T (p.Gly487Val) c.977G>T (p.Gly326Val) c.872G>T (p.Gly291Val) |