Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122283638T>CCA2577870113CASRc.1502-49T>C (n.1502-49T>C)
c.1763-49T>C (n.1763-49T>C)
c.1733-49T>C (n.1733-49T>C)
c.1250-49T>C (n.1250-49T>C)
c.1145-49T>C (n.1145-49T>C)
3g.122283641A>GCA2667223770CASRc.1502-46A>G (n.1502-46A>G)
c.1763-46A>G (n.1763-46A>G)
c.1733-46A>G (n.1733-46A>G)
c.1250-46A>G (n.1250-46A>G)
c.1145-46A>G (n.1145-46A>G)
 gnomAD v4
3g.122283643T>CCA435251674CASRc.1502-44T>C (n.1502-44T>C)
c.1763-44T>C (n.1763-44T>C)
c.1733-44T>C (n.1733-44T>C)
c.1250-44T>C (n.1250-44T>C)
c.1145-44T>C (n.1145-44T>C)
3g.122283643T>GCA1052944436CASRc.1502-44T>G (n.1502-44T>G)
c.1763-44T>G (n.1763-44T>G)
c.1733-44T>G (n.1733-44T>G)
c.1250-44T>G (n.1250-44T>G)
c.1145-44T>G (n.1145-44T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.122283643T=CA1397870775CASRc.1502-44T= (n.1502-44T=)
c.1763-44T= (n.1763-44T=)
c.1733-44T= (n.1733-44T=)
c.1250-44T= (n.1250-44T=)
c.1145-44T= (n.1145-44T=)
3g.122283644C>ACA2577870114CASRc.1502-43C>A (n.1502-43C>A)
c.1763-43C>A (n.1763-43C>A)
c.1733-43C>A (n.1733-43C>A)
c.1250-43C>A (n.1250-43C>A)
c.1145-43C>A (n.1145-43C>A)
 gnomAD v4
3g.122283646G>ACA2577870115CASRc.1502-41G>A (n.1502-41G>A)
c.1763-41G>A (n.1763-41G>A)
c.1733-41G>A (n.1733-41G>A)
c.1250-41G>A (n.1250-41G>A)
c.1145-41G>A (n.1145-41G>A)
3g.122283646G>TCA2667223771CASRc.1502-41G>T (n.1502-41G>T)
c.1763-41G>T (n.1763-41G>T)
c.1733-41G>T (n.1733-41G>T)
c.1250-41G>T (n.1250-41G>T)
c.1145-41G>T (n.1145-41G>T)
 gnomAD v4
3g.122283647T>CCA2577870116CASRc.1502-40T>C (n.1502-40T>C)
c.1763-40T>C (n.1763-40T>C)
c.1733-40T>C (n.1733-40T>C)
c.1250-40T>C (n.1250-40T>C)
c.1145-40T>C (n.1145-40T>C)
 gnomAD v4
3g.122283648G>ACA2667223772CASRc.1502-39G>A (n.1502-39G>A)
c.1763-39G>A (n.1763-39G>A)
c.1733-39G>A (n.1733-39G>A)
c.1250-39G>A (n.1250-39G>A)
c.1145-39G>A (n.1145-39G>A)
 gnomAD v4
3g.122283649C>ACA2667223774CASRc.1502-38C>A (n.1502-38C>A)
c.1763-38C>A (n.1763-38C>A)
c.1733-38C>A (n.1733-38C>A)
c.1250-38C>A (n.1250-38C>A)
c.1145-38C>A (n.1145-38C>A)
 gnomAD v4
3g.122283649C>GCA2667223776CASRc.1502-38C>G (n.1502-38C>G)
c.1763-38C>G (n.1763-38C>G)
c.1733-38C>G (n.1733-38C>G)
c.1250-38C>G (n.1250-38C>G)
c.1145-38C>G (n.1145-38C>G)
 gnomAD v4
3g.122283649C>TCA2577870117CASRc.1502-38C>T (n.1502-38C>T)
c.1763-38C>T (n.1763-38C>T)
c.1733-38C>T (n.1733-38C>T)
c.1250-38C>T (n.1250-38C>T)
c.1145-38C>T (n.1145-38C>T)
 gnomAD v4
3g.122283650delCA2667223777CASRc.1502-37del (n.1502-37del)
c.1763-37del (n.1763-37del)
c.1733-37del (n.1733-37del)
c.1250-37del (n.1250-37del)
c.1145-37del (n.1145-37del)
 gnomAD v4
3g.122283650C>ACA2667223778CASRc.1502-37C>A (n.1502-37C>A)
c.1763-37C>A (n.1763-37C>A)
c.1733-37C>A (n.1733-37C>A)
c.1250-37C>A (n.1250-37C>A)
c.1145-37C>A (n.1145-37C>A)
 gnomAD v4
3g.122283652C>ACA2667223779CASRc.1502-35C>A (n.1502-35C>A)
c.1763-35C>A (n.1763-35C>A)
c.1733-35C>A (n.1733-35C>A)
c.1250-35C>A (n.1250-35C>A)
c.1145-35C>A (n.1145-35C>A)
 gnomAD v4
3g.122283653A=CA1397870776CASRc.1502-34A= (n.1502-34A=)
c.1763-34A= (n.1763-34A=)
c.1733-34A= (n.1733-34A=)
c.1250-34A= (n.1250-34A=)
c.1145-34A= (n.1145-34A=)
3g.122283653A>CCA2667223781CASRc.1502-34A>C (n.1502-34A>C)
c.1763-34A>C (n.1763-34A>C)
c.1733-34A>C (n.1733-34A>C)
c.1250-34A>C (n.1250-34A>C)
c.1145-34A>C (n.1145-34A>C)
 gnomAD v4
3g.122283653A>GCA1052944438CASRc.1502-34A>G (n.1502-34A>G)
c.1763-34A>G (n.1763-34A>G)
c.1733-34A>G (n.1733-34A>G)
c.1250-34A>G (n.1250-34A>G)
c.1145-34A>G (n.1145-34A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.122283654C>ACA2667223783CASRc.1502-33C>A (n.1502-33C>A)
c.1763-33C>A (n.1763-33C>A)
c.1733-33C>A (n.1733-33C>A)
c.1250-33C>A (n.1250-33C>A)
c.1145-33C>A (n.1145-33C>A)
 gnomAD v4
3g.122283654C=CA1397870777CASRc.1502-33C= (n.1502-33C=)
c.1763-33C= (n.1763-33C=)
c.1733-33C= (n.1733-33C=)
c.1250-33C= (n.1250-33C=)
c.1145-33C= (n.1145-33C=)
3g.122283654C>GCA2577870118CASRc.1502-33C>G (n.1502-33C>G)
c.1763-33C>G (n.1763-33C>G)
c.1733-33C>G (n.1733-33C>G)
c.1250-33C>G (n.1250-33C>G)
c.1145-33C>G (n.1145-33C>G)
3g.122283654C>TCA545962805CASRc.1502-33C>T (n.1502-33C>T)
c.1763-33C>T (n.1763-33C>T)
c.1733-33C>T (n.1733-33C>T)
c.1250-33C>T (n.1250-33C>T)
c.1145-33C>T (n.1145-33C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122283655A>GCA2577870119CASRc.1502-32A>G (n.1502-32A>G)
c.1763-32A>G (n.1763-32A>G)
c.1733-32A>G (n.1733-32A>G)
c.1250-32A>G (n.1250-32A>G)
c.1145-32A>G (n.1145-32A>G)
3g.122283656A=CA1397870778CASRc.1502-31A= (n.1502-31A=)
c.1763-31A= (n.1763-31A=)
c.1733-31A= (n.1733-31A=)
c.1250-31A= (n.1250-31A=)
c.1145-31A= (n.1145-31A=)
3g.122283656A>GCA1052944444CASRc.1502-31A>G (n.1502-31A>G)
c.1763-31A>G (n.1763-31A>G)
c.1733-31A>G (n.1733-31A>G)
c.1250-31A>G (n.1250-31A>G)
c.1145-31A>G (n.1145-31A>G)
 dbSNP
3g.122283660C>ACA2667223786CASRc.1502-27C>A (n.1502-27C>A)
c.1763-27C>A (n.1763-27C>A)
c.1733-27C>A (n.1733-27C>A)
c.1250-27C>A (n.1250-27C>A)
c.1145-27C>A (n.1145-27C>A)
 gnomAD v4
3g.122283661T>CCA2667223789CASRc.1502-26T>C (n.1502-26T>C)
c.1763-26T>C (n.1763-26T>C)
c.1733-26T>C (n.1733-26T>C)
c.1250-26T>C (n.1250-26T>C)
c.1145-26T>C (n.1145-26T>C)
 gnomAD v4
3g.122283663A>TCA2667223790CASRc.1502-24A>T (n.1502-24A>T)
c.1763-24A>T (n.1763-24A>T)
c.1733-24A>T (n.1733-24A>T)
c.1250-24A>T (n.1250-24A>T)
c.1145-24A>T (n.1145-24A>T)
 gnomAD v4
3g.122283669C>ACA2667223791CASRc.1502-18C>A (n.1502-18C>A)
c.1763-18C>A (n.1763-18C>A)
c.1733-18C>A (n.1733-18C>A)
c.1250-18C>A (n.1250-18C>A)
c.1145-18C>A (n.1145-18C>A)
 gnomAD v4
3g.122283671C>ACA82748515CASRc.1502-16C>A (n.1502-16C>A)
c.1763-16C>A (n.1763-16C>A)
c.1733-16C>A (n.1733-16C>A)
c.1250-16C>A (n.1250-16C>A)
c.1145-16C>A (n.1145-16C>A)
 dbSNP gnomAD v4
3g.122283671C=CA1397870779CASRc.1502-16C= (n.1502-16C=)
c.1763-16C= (n.1763-16C=)
c.1733-16C= (n.1733-16C=)
c.1250-16C= (n.1250-16C=)
c.1145-16C= (n.1145-16C=)
3g.122283671C>TCA2667223794CASRc.1502-16C>T (n.1502-16C>T)
c.1763-16C>T (n.1763-16C>T)
c.1733-16C>T (n.1733-16C>T)
c.1250-16C>T (n.1250-16C>T)
c.1145-16C>T (n.1145-16C>T)
 ClinVar gnomAD v4
3g.122283672T>CCA2667223797CASRc.1502-15T>C (n.1502-15T>C)
c.1763-15T>C (n.1763-15T>C)
c.1733-15T>C (n.1733-15T>C)
c.1250-15T>C (n.1250-15T>C)
c.1145-15T>C (n.1145-15T>C)
 gnomAD v4
3g.122283672T>GCA2667223799CASRc.1502-15T>G (n.1502-15T>G)
c.1763-15T>G (n.1763-15T>G)
c.1733-15T>G (n.1733-15T>G)
c.1250-15T>G (n.1250-15T>G)
c.1145-15T>G (n.1145-15T>G)
 gnomAD v4
3g.122283673G>TCA2577870120CASRc.1502-14G>T (n.1502-14G>T)
c.1763-14G>T (n.1763-14G>T)
c.1733-14G>T (n.1733-14G>T)
c.1250-14G>T (n.1250-14G>T)
c.1145-14G>T (n.1145-14G>T)
3g.122283674G>ACA1397870781CASRc.1502-13G>A (n.1502-13G>A)
c.1763-13G>A (n.1763-13G>A)
c.1733-13G>A (n.1733-13G>A)
c.1250-13G>A (n.1250-13G>A)
c.1145-13G>A (n.1145-13G>A)
 ClinVar dbSNP gnomAD v4
3g.122283674G>CCA2569738CASRc.1502-13G>C (n.1502-13G>C)
c.1763-13G>C (n.1763-13G>C)
c.1733-13G>C (n.1733-13G>C)
c.1250-13G>C (n.1250-13G>C)
c.1145-13G>C (n.1145-13G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122283674G=CA1397870782CASRc.1502-13G= (n.1502-13G=)
c.1763-13G= (n.1763-13G=)
c.1733-13G= (n.1733-13G=)
c.1250-13G= (n.1250-13G=)
c.1145-13G= (n.1145-13G=)
3g.122283675G>ACA2573136444CASRc.1502-12G>A (n.1502-12G>A)
c.1763-12G>A (n.1763-12G>A)
c.1733-12G>A (n.1733-12G>A)
c.1250-12G>A (n.1250-12G>A)
c.1145-12G>A (n.1145-12G>A)
 ClinVar dbSNP
3g.122283676A=CA1397870783CASRc.1502-11A= (n.1502-11A=)
c.1763-11A= (n.1763-11A=)
c.1733-11A= (n.1733-11A=)
c.1250-11A= (n.1250-11A=)
c.1145-11A= (n.1145-11A=)
3g.122283676A>GCA2569739CASRc.1502-11A>G (n.1502-11A>G)
c.1763-11A>G (n.1763-11A>G)
c.1733-11A>G (n.1733-11A>G)
c.1250-11A>G (n.1250-11A>G)
c.1145-11A>G (n.1145-11A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122283676A>TCA545962806CASRc.1502-11A>T (n.1502-11A>T)
c.1763-11A>T (n.1763-11A>T)
c.1733-11A>T (n.1733-11A>T)
c.1250-11A>T (n.1250-11A>T)
c.1145-11A>T (n.1145-11A>T)
 dbSNP gnomAD v2 gnomAD v4
3g.122283677C=CA1397870786CASRc.1502-10C= (n.1502-10C=)
c.1763-10C= (n.1763-10C=)
c.1733-10C= (n.1733-10C=)
c.1250-10C= (n.1250-10C=)
c.1145-10C= (n.1145-10C=)
3g.122283677C>TCA1397870789CASRc.1502-10C>T (n.1502-10C>T)
c.1763-10C>T (n.1763-10C>T)
c.1733-10C>T (n.1733-10C>T)
c.1250-10C>T (n.1250-10C>T)
c.1145-10C>T (n.1145-10C>T)
 ClinVar dbSNP
3g.122283678A=CA1397870790CASRc.1502-9A= (n.1502-9A=)
c.1763-9A= (n.1763-9A=)
c.1733-9A= (n.1733-9A=)
c.1250-9A= (n.1250-9A=)
c.1145-9A= (n.1145-9A=)
3g.122283678A>GCA2569740CASRc.1502-9A>G (n.1502-9A>G)
c.1763-9A>G (n.1763-9A>G)
c.1733-9A>G (n.1733-9A>G)
c.1250-9A>G (n.1250-9A>G)
c.1145-9A>G (n.1145-9A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122283680T>ACA916082594CASRc.1502-7T>A (n.1502-7T>A)
c.1763-7T>A (n.1763-7T>A)
c.1733-7T>A (n.1733-7T>A)
c.1250-7T>A (n.1250-7T>A)
c.1145-7T>A (n.1145-7T>A)
 ClinVar dbSNP
3g.122283680T=CA1397870791CASRc.1502-7T= (n.1502-7T=)
c.1763-7T= (n.1763-7T=)
c.1733-7T= (n.1733-7T=)
c.1250-7T= (n.1250-7T=)
c.1145-7T= (n.1145-7T=)
3g.122283683A=CA1397870793CASRc.1502-4A= (n.1502-4A=)
c.1763-4A= (n.1763-4A=)
c.1733-4A= (n.1733-4A=)
c.1250-4A= (n.1250-4A=)
c.1145-4A= (n.1145-4A=)
3g.122283683A>GCA82748524CASRc.1502-4A>G (n.1502-4A>G)
c.1763-4A>G (n.1763-4A>G)
c.1733-4A>G (n.1733-4A>G)
c.1250-4A>G (n.1250-4A>G)
c.1145-4A>G (n.1145-4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122283685A>CCA354157048CASRc.1502-2A>C (n.1502-2A>C)
c.1763-2A>C (n.1763-2A>C)
c.1733-2A>C (n.1733-2A>C)
c.1250-2A>C (n.1250-2A>C)
c.1145-2A>C (n.1145-2A>C)
 ClinVar
3g.122283685A>GCA354157049CASRc.1502-2A>G (n.1502-2A>G)
c.1763-2A>G (n.1763-2A>G)
c.1733-2A>G (n.1733-2A>G)
c.1250-2A>G (n.1250-2A>G)
c.1145-2A>G (n.1145-2A>G)
3g.122283685A>TCA354157050CASRc.1502-2A>T (n.1502-2A>T)
c.1763-2A>T (n.1763-2A>T)
c.1733-2A>T (n.1733-2A>T)
c.1250-2A>T (n.1250-2A>T)
c.1145-2A>T (n.1145-2A>T)
3g.122283686G>ACA354157051CASRc.1502-1G>A (n.1502-1G>A)
c.1763-1G>A (n.1763-1G>A)
c.1733-1G>A (n.1733-1G>A)
c.1250-1G>A (n.1250-1G>A)
c.1145-1G>A (n.1145-1G>A)
3g.122283686G>CCA354157052CASRc.1502-1G>C (n.1502-1G>C)
c.1763-1G>C (n.1763-1G>C)
c.1733-1G>C (n.1733-1G>C)
c.1250-1G>C (n.1250-1G>C)
c.1145-1G>C (n.1145-1G>C)
 COSMIC
3g.122283686G>TCA354157053CASRc.1502-1G>T (n.1502-1G>T)
c.1763-1G>T (n.1763-1G>T)
c.1733-1G>T (n.1733-1G>T)
c.1250-1G>T (n.1250-1G>T)
c.1145-1G>T (n.1145-1G>T)
3g.122283687A>CCA354157056CASRc.1502A>C (p.Asp501Ala)
c.1763A>C (p.Asp588Ala)
c.1733A>C (p.Asp578Ala)
c.1250A>C (p.Asp417Ala)
c.1145A>C (p.Asp382Ala)
3g.122283687A>GCA354157059CASRc.1502A>G (p.Asp501Gly)
c.1763A>G (p.Asp588Gly)
c.1733A>G (p.Asp578Gly)
c.1250A>G (p.Asp417Gly)
c.1145A>G (p.Asp382Gly)
 ClinVar dbSNP
3g.122283687A>TCA354157058CASRc.1502A>T (p.Asp501Val)
c.1763A>T (p.Asp588Val)
c.1733A>T (p.Asp578Val)
c.1250A>T (p.Asp417Val)
c.1145A>T (p.Asp382Val)
 ClinVar
3g.122283688T>ACA354157061CASRc.1503T>A (p.Asp501Glu)
c.1764T>A (p.Asp588Glu)
c.1734T>A (p.Asp578Glu)
c.1251T>A (p.Asp417Glu)
c.1146T>A (p.Asp382Glu)
3g.122283688T>CCA435251679CASRc.1503T>C (p.Asp501=)
c.1764T>C (p.Asp588=)
c.1734T>C (p.Asp578=)
c.1251T>C (p.Asp417=)
c.1146T>C (p.Asp382=)
 ClinVar gnomAD v4
3g.122283688T>GCA354157064CASRc.1503T>G (p.Asp501Glu)
c.1764T>G (p.Asp588Glu)
c.1734T>G (p.Asp578Glu)
c.1251T>G (p.Asp417Glu)
c.1146T>G (p.Asp382Glu)
3g.122283689G>ACA354157066CASRc.1504G>A (p.Ala502Thr)
c.1765G>A (p.Ala589Thr)
c.1735G>A (p.Ala579Thr)
c.1252G>A (p.Ala418Thr)
c.1147G>A (p.Ala383Thr)
 COSMIC
3g.122283689G>CCA354157068CASRc.1504G>C (p.Ala502Pro)
c.1765G>C (p.Ala589Pro)
c.1735G>C (p.Ala579Pro)
c.1252G>C (p.Ala418Pro)
c.1147G>C (p.Ala383Pro)
3g.122283689G>TCA354157070CASRc.1504G>T (p.Ala502Ser)
c.1765G>T (p.Ala589Ser)
c.1735G>T (p.Ala579Ser)
c.1252G>T (p.Ala418Ser)
c.1147G>T (p.Ala383Ser)
3g.122283690C>ACA354157072CASRc.1505C>A (p.Ala502Asp)
c.1766C>A (p.Ala589Asp)
c.1736C>A (p.Ala579Asp)
c.1253C>A (p.Ala418Asp)
c.1148C>A (p.Ala383Asp)
3g.122283690C=CA1397870803CASRc.1505C= (p.Ala502=)
c.1766C= (p.Ala589=)
c.1736C= (p.Ala579=)
c.1253C= (p.Ala418=)
c.1148C= (p.Ala383=)
3g.122283690C>GCA354157074CASRc.1505C>G (p.Ala502Gly)
c.1766C>G (p.Ala589Gly)
c.1736C>G (p.Ala579Gly)
c.1253C>G (p.Ala418Gly)
c.1148C>G (p.Ala383Gly)
3g.122283690C>TCA82748525CASRc.1505C>T (p.Ala502Val)
c.1766C>T (p.Ala589Val)
c.1736C>T (p.Ala579Val)
c.1253C>T (p.Ala418Val)
c.1148C>T (p.Ala383Val)
 dbSNP
3g.122283691C>ACA435251682CASRc.1506C>A (p.Ala502=)
c.1767C>A (p.Ala589=)
c.1737C>A (p.Ala579=)
c.1254C>A (p.Ala418=)
c.1149C>A (p.Ala383=)
3g.122283691C>GCA435251683CASRc.1506C>G (p.Ala502=)
c.1767C>G (p.Ala589=)
c.1737C>G (p.Ala579=)
c.1254C>G (p.Ala418=)
c.1149C>G (p.Ala383=)
3g.122283691C>TCA435251684CASRc.1506C>T (p.Ala502=)
c.1767C>T (p.Ala589=)
c.1737C>T (p.Ala579=)
c.1254C>T (p.Ala418=)
c.1149C>T (p.Ala383=)
3g.122283692A>CCA354157079CASRc.1507A>C (p.Ser503Arg)
c.1768A>C (p.Ser590Arg)
c.1738A>C (p.Ser580Arg)
c.1255A>C (p.Ser419Arg)
c.1150A>C (p.Ser384Arg)
3g.122283692A>GCA354157081CASRc.1507A>G (p.Ser503Gly)
c.1768A>G (p.Ser590Gly)
c.1738A>G (p.Ser580Gly)
c.1255A>G (p.Ser419Gly)
c.1150A>G (p.Ser384Gly)
3g.122283692A>TCA354157082CASRc.1507A>T (p.Ser503Cys)
c.1768A>T (p.Ser590Cys)
c.1738A>T (p.Ser580Cys)
c.1255A>T (p.Ser419Cys)
c.1150A>T (p.Ser384Cys)
3g.122283693G>ACA354157087CASRc.1508G>A (p.Ser503Asn)
c.1769G>A (p.Ser590Asn)
c.1739G>A (p.Ser580Asn)
c.1256G>A (p.Ser419Asn)
c.1151G>A (p.Ser384Asn)
 ClinVar
3g.122283693G>CCA354157089CASRc.1508G>C (p.Ser503Thr)
c.1769G>C (p.Ser590Thr)
c.1739G>C (p.Ser580Thr)
c.1256G>C (p.Ser419Thr)
c.1151G>C (p.Ser384Thr)
3g.122283693G>TCA354157085CASRc.1508G>T (p.Ser503Ile)
c.1769G>T (p.Ser590Ile)
c.1739G>T (p.Ser580Ile)
c.1256G>T (p.Ser419Ile)
c.1151G>T (p.Ser384Ile)
3g.122283694T>ACA354157092CASRc.1509T>A (p.Ser503Arg)
c.1770T>A (p.Ser590Arg)
c.1740T>A (p.Ser580Arg)
c.1257T>A (p.Ser419Arg)
c.1152T>A (p.Ser384Arg)
3g.122283694T>CCA435251688CASRc.1509T>C (p.Ser503=)
c.1770T>C (p.Ser590=)
c.1740T>C (p.Ser580=)
c.1257T>C (p.Ser419=)
c.1152T>C (p.Ser384=)
3g.122283694T>GCA354157094CASRc.1509T>G (p.Ser503Arg)
c.1770T>G (p.Ser590Arg)
c.1740T>G (p.Ser580Arg)
c.1257T>G (p.Ser419Arg)
c.1152T>G (p.Ser384Arg)
3g.122283695G>ACA354157097CASRc.1510G>A (p.Ala504Thr)
c.1771G>A (p.Ala591Thr)
c.1741G>A (p.Ala581Thr)
c.1258G>A (p.Ala420Thr)
c.1153G>A (p.Ala385Thr)
3g.122283695G>CCA354157099CASRc.1510G>C (p.Ala504Pro)
c.1771G>C (p.Ala591Pro)
c.1741G>C (p.Ala581Pro)
c.1258G>C (p.Ala420Pro)
c.1153G>C (p.Ala385Pro)
3g.122283695G>TCA354157101CASRc.1510G>T (p.Ala504Ser)
c.1771G>T (p.Ala591Ser)
c.1741G>T (p.Ala581Ser)
c.1258G>T (p.Ala420Ser)
c.1153G>T (p.Ala385Ser)
3g.122283696C>ACA354157104CASRc.1511C>A (p.Ala504Asp)
c.1772C>A (p.Ala591Asp)
c.1742C>A (p.Ala581Asp)
c.1259C>A (p.Ala420Asp)
c.1154C>A (p.Ala385Asp)
3g.122283696C>GCA354157106CASRc.1511C>G (p.Ala504Gly)
c.1772C>G (p.Ala591Gly)
c.1742C>G (p.Ala581Gly)
c.1259C>G (p.Ala420Gly)
c.1154C>G (p.Ala385Gly)
3g.122283696C>TCA354157107CASRc.1511C>T (p.Ala504Val)
c.1772C>T (p.Ala591Val)
c.1742C>T (p.Ala581Val)
c.1259C>T (p.Ala420Val)
c.1154C>T (p.Ala385Val)
3g.122283697C>ACA435251689CASRc.1512C>A (p.Ala504=)
c.1773C>A (p.Ala591=)
c.1743C>A (p.Ala581=)
c.1260C>A (p.Ala420=)
c.1155C>A (p.Ala385=)
3g.122283697C>GCA435251690CASRc.1512C>G (p.Ala504=)
c.1773C>G (p.Ala591=)
c.1743C>G (p.Ala581=)
c.1260C>G (p.Ala420=)
c.1155C>G (p.Ala385=)
 gnomAD v4
3g.122283697C>TCA435251691CASRc.1512C>T (p.Ala504=)
c.1773C>T (p.Ala591=)
c.1743C>T (p.Ala581=)
c.1260C>T (p.Ala420=)
c.1155C>T (p.Ala385=)
 ClinVar COSMIC
3g.122283698T>ACA354157111CASRc.1513T>A (p.Cys505Ser)
c.1774T>A (p.Cys592Ser)
c.1744T>A (p.Cys582Ser)
c.1261T>A (p.Cys421Ser)
c.1156T>A (p.Cys386Ser)
 ClinVar dbSNP
3g.122283698T>CCA354157112CASRc.1513T>C (p.Cys505Arg)
c.1774T>C (p.Cys592Arg)
c.1744T>C (p.Cys582Arg)
c.1261T>C (p.Cys421Arg)
c.1156T>C (p.Cys386Arg)
 ClinVar
3g.122283698T>GCA354157115CASRc.1513T>G (p.Cys505Gly)
c.1774T>G (p.Cys592Gly)
c.1744T>G (p.Cys582Gly)
c.1261T>G (p.Cys421Gly)
c.1156T>G (p.Cys386Gly)
3g.122283698T=CA1397870807CASRc.1513T= (p.Cys505=)
c.1774T= (p.Cys592=)
c.1744T= (p.Cys582=)
c.1261T= (p.Cys421=)
c.1156T= (p.Cys386=)
3g.122283699G>ACA119477CASRc.1514G>A (p.Cys505Tyr)
c.1775G>A (p.Cys592Tyr)
c.1745G>A (p.Cys582Tyr)
c.1262G>A (p.Cys421Tyr)
c.1157G>A (p.Cys386Tyr)
 ClinVar dbSNP gnomAD v4
3g.122283699G>CCA354157119CASRc.1514G>C (p.Cys505Ser)
c.1775G>C (p.Cys592Ser)
c.1745G>C (p.Cys582Ser)
c.1262G>C (p.Cys421Ser)
c.1157G>C (p.Cys386Ser)
3g.122283699G=CA1397870814CASRc.1514G= (p.Cys505=)
c.1775G= (p.Cys592=)
c.1745G= (p.Cys582=)
c.1262G= (p.Cys421=)
c.1157G= (p.Cys386=)
3g.122283699G>TCA119545CASRc.1514G>T (p.Cys505Phe)
c.1775G>T (p.Cys592Phe)
c.1745G>T (p.Cys582Phe)
c.1262G>T (p.Cys421Phe)
c.1157G>T (p.Cys386Phe)
 ClinVar dbSNP
3g.122283700T>ACA354157125CASRc.1515T>A (p.Cys505Ter)
c.1776T>A (p.Cys592Ter)
c.1746T>A (p.Cys582Ter)
c.1263T>A (p.Cys421Ter)
c.1158T>A (p.Cys386Ter)
3g.122283700T>CCA435251694CASRc.1515T>C (p.Cys505=)
c.1776T>C (p.Cys592=)
c.1746T>C (p.Cys582=)
c.1263T>C (p.Cys421=)
c.1158T>C (p.Cys386=)
3g.122283700T>GCA354157123CASRc.1515T>G (p.Cys505Trp)
c.1776T>G (p.Cys592Trp)
c.1746T>G (p.Cys582Trp)
c.1263T>G (p.Cys421Trp)
c.1158T>G (p.Cys386Trp)
3g.122283700dupCA2586972856CASRc.1515dup (p.Asn506Ter)
c.1776dup (p.Asn593Ter)
c.1746dup (p.Asn583Ter)
c.1263dup (p.Asn422Ter)
c.1158dup (p.Asn387Ter)
3g.122283701A>CCA354157127CASRc.1516A>C (p.Asn506His)
c.1777A>C (p.Asn593His)
c.1747A>C (p.Asn583His)
c.1264A>C (p.Asn422His)
c.1159A>C (p.Asn387His)
3g.122283701A>GCA354157128CASRc.1516A>G (p.Asn506Asp)
c.1777A>G (p.Asn593Asp)
c.1747A>G (p.Asn583Asp)
c.1264A>G (p.Asn422Asp)
c.1159A>G (p.Asn387Asp)
 ClinVar COSMIC
3g.122283701A>TCA354157130CASRc.1516A>T (p.Asn506Tyr)
c.1777A>T (p.Asn593Tyr)
c.1747A>T (p.Asn583Tyr)
c.1264A>T (p.Asn422Tyr)
c.1159A>T (p.Asn387Tyr)
3g.122283702A=CA1397870824CASRc.1517A= (p.Asn506=)
c.1778A= (p.Asn593=)
c.1748A= (p.Asn583=)
c.1265A= (p.Asn422=)
c.1160A= (p.Asn387=)
3g.122283702A>CCA354157132CASRc.1517A>C (p.Asn506Thr)
c.1778A>C (p.Asn593Thr)
c.1748A>C (p.Asn583Thr)
c.1265A>C (p.Asn422Thr)
c.1160A>C (p.Asn387Thr)
3g.122283702A>GCA354157134CASRc.1517A>G (p.Asn506Ser)
c.1778A>G (p.Asn593Ser)
c.1748A>G (p.Asn583Ser)
c.1265A>G (p.Asn422Ser)
c.1160A>G (p.Asn387Ser)
 ClinVar dbSNP gnomAD v4
3g.122283702A>TCA354157136CASRc.1517A>T (p.Asn506Ile)
c.1778A>T (p.Asn593Ile)
c.1748A>T (p.Asn583Ile)
c.1265A>T (p.Asn422Ile)
c.1160A>T (p.Asn387Ile)
3g.122283703C>ACA354157140CASRc.1518C>A (p.Asn506Lys)
c.1779C>A (p.Asn593Lys)
c.1749C>A (p.Asn583Lys)
c.1266C>A (p.Asn422Lys)
c.1161C>A (p.Asn387Lys)
3g.122283703C>GCA354157138CASRc.1518C>G (p.Asn506Lys)
c.1779C>G (p.Asn593Lys)
c.1749C>G (p.Asn583Lys)
c.1266C>G (p.Asn422Lys)
c.1161C>G (p.Asn387Lys)
3g.122283703C>TCA435251697CASRc.1518C>T (p.Asn506=)
c.1779C>T (p.Asn593=)
c.1749C>T (p.Asn583=)
c.1266C>T (p.Asn422=)
c.1161C>T (p.Asn387=)
 ClinVar
3g.122283704A=CA1397870830CASRc.1519A= (p.Lys507=)
c.1780A= (p.Lys594=)
c.1750A= (p.Lys584=)
c.1267A= (p.Lys423=)
c.1162A= (p.Lys388=)
3g.122283704A>CCA354157144CASRc.1519A>C (p.Lys507Gln)
c.1780A>C (p.Lys594Gln)
c.1750A>C (p.Lys584Gln)
c.1267A>C (p.Lys423Gln)
c.1162A>C (p.Lys388Gln)
3g.122283704A>GCA354157146CASRc.1519A>G (p.Lys507Glu)
c.1780A>G (p.Lys594Glu)
c.1750A>G (p.Lys584Glu)
c.1267A>G (p.Lys423Glu)
c.1162A>G (p.Lys388Glu)
3g.122283704A>TCA16604350CASRc.1519A>T (p.Lys507Ter)
c.1780A>T (p.Lys594Ter)
c.1750A>T (p.Lys584Ter)
c.1267A>T (p.Lys423Ter)
c.1162A>T (p.Lys388Ter)
 ClinVar dbSNP
3g.122283705A=CA1397870834CASRc.1520A= (p.Lys507=)
c.1781A= (p.Lys594=)
c.1751A= (p.Lys584=)
c.1268A= (p.Lys423=)
c.1163A= (p.Lys388=)
3g.122283705A>CCA354157149CASRc.1520A>C (p.Lys507Thr)
c.1781A>C (p.Lys594Thr)
c.1751A>C (p.Lys584Thr)
c.1268A>C (p.Lys423Thr)
c.1163A>C (p.Lys388Thr)
 ClinVar
3g.122283705A>GCA354157152CASRc.1520A>G (p.Lys507Arg)
c.1781A>G (p.Lys594Arg)
c.1751A>G (p.Lys584Arg)
c.1268A>G (p.Lys423Arg)
c.1163A>G (p.Lys388Arg)
 dbSNP gnomAD v2
3g.122283705A>TCA354157153CASRc.1520A>T (p.Lys507Met)
c.1781A>T (p.Lys594Met)
c.1751A>T (p.Lys584Met)
c.1268A>T (p.Lys423Met)
c.1163A>T (p.Lys388Met)
3g.122283706G>ACA2569741CASRc.1521G>A (p.Lys507=)
c.1782G>A (p.Lys594=)
c.1752G>A (p.Lys584=)
c.1269G>A (p.Lys423=)
c.1164G>A (p.Lys388=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122283706G>CCA354157159CASRc.1521G>C (p.Lys507Asn)
c.1782G>C (p.Lys594Asn)
c.1752G>C (p.Lys584Asn)
c.1269G>C (p.Lys423Asn)
c.1164G>C (p.Lys388Asn)
3g.122283706G=CA1397870837CASRc.1521G= (p.Lys507=)
c.1782G= (p.Lys594=)
c.1752G= (p.Lys584=)
c.1269G= (p.Lys423=)
c.1164G= (p.Lys388=)
3g.122283706G>TCA354157157CASRc.1521G>T (p.Lys507Asn)
c.1782G>T (p.Lys594Asn)
c.1752G>T (p.Lys584Asn)
c.1269G>T (p.Lys423Asn)
c.1164G>T (p.Lys388Asn)
3g.122283707T>ACA354157162CASRc.1522T>A (p.Cys508Ser)
c.1783T>A (p.Cys595Ser)
c.1753T>A (p.Cys585Ser)
c.1270T>A (p.Cys424Ser)
c.1165T>A (p.Cys389Ser)
 ClinVar
3g.122283707T>CCA354157163CASRc.1522T>C (p.Cys508Arg)
c.1783T>C (p.Cys595Arg)
c.1753T>C (p.Cys585Arg)
c.1270T>C (p.Cys424Arg)
c.1165T>C (p.Cys389Arg)
3g.122283707T>GCA354157165CASRc.1522T>G (p.Cys508Gly)
c.1783T>G (p.Cys595Gly)
c.1753T>G (p.Cys585Gly)
c.1270T>G (p.Cys424Gly)
c.1165T>G (p.Cys389Gly)
3g.122283708G>ACA354157168CASRc.1523G>A (p.Cys508Tyr)
c.1784G>A (p.Cys595Tyr)
c.1754G>A (p.Cys585Tyr)
c.1271G>A (p.Cys424Tyr)
c.1166G>A (p.Cys389Tyr)
3g.122283708G>CCA354157171CASRc.1523G>C (p.Cys508Ser)
c.1784G>C (p.Cys595Ser)
c.1754G>C (p.Cys585Ser)
c.1271G>C (p.Cys424Ser)
c.1166G>C (p.Cys389Ser)
3g.122283708G>TCA354157173CASRc.1523G>T (p.Cys508Phe)
c.1784G>T (p.Cys595Phe)
c.1754G>T (p.Cys585Phe)
c.1271G>T (p.Cys424Phe)
c.1166G>T (p.Cys389Phe)
 COSMIC
3g.122283709C>ACA354157177CASRc.1524C>A (p.Cys508Ter)
c.1785C>A (p.Cys595Ter)
c.1755C>A (p.Cys585Ter)
c.1272C>A (p.Cys424Ter)
c.1167C>A (p.Cys389Ter)
3g.122283709C>GCA354157176CASRc.1524C>G (p.Cys508Trp)
c.1785C>G (p.Cys595Trp)
c.1755C>G (p.Cys585Trp)
c.1272C>G (p.Cys424Trp)
c.1167C>G (p.Cys389Trp)
 ClinVar
3g.122283709C>TCA435251704CASRc.1524C>T (p.Cys508=)
c.1785C>T (p.Cys595=)
c.1755C>T (p.Cys585=)
c.1272C>T (p.Cys424=)
c.1167C>T (p.Cys389=)
3g.122283710C>ACA354157181CASRc.1525C>A (p.Pro509Thr)
c.1786C>A (p.Pro596Thr)
c.1756C>A (p.Pro586Thr)
c.1273C>A (p.Pro425Thr)
c.1168C>A (p.Pro390Thr)
3g.122283710C>GCA354157182CASRc.1525C>G (p.Pro509Ala)
c.1786C>G (p.Pro596Ala)
c.1756C>G (p.Pro586Ala)
c.1273C>G (p.Pro425Ala)
c.1168C>G (p.Pro390Ala)
3g.122283710C>TCA354157184CASRc.1525C>T (p.Pro509Ser)
c.1786C>T (p.Pro596Ser)
c.1756C>T (p.Pro586Ser)
c.1273C>T (p.Pro425Ser)
c.1168C>T (p.Pro390Ser)
3g.122283711C>ACA354157187CASRc.1526C>A (p.Pro509Gln)
c.1787C>A (p.Pro596Gln)
c.1757C>A (p.Pro586Gln)
c.1274C>A (p.Pro425Gln)
c.1169C>A (p.Pro390Gln)
3g.122283711C>GCA354157189CASRc.1526C>G (p.Pro509Arg)
c.1787C>G (p.Pro596Arg)
c.1757C>G (p.Pro586Arg)
c.1274C>G (p.Pro425Arg)
c.1169C>G (p.Pro390Arg)
3g.122283711C>TCA354157191CASRc.1526C>T (p.Pro509Leu)
c.1787C>T (p.Pro596Leu)
c.1757C>T (p.Pro586Leu)
c.1274C>T (p.Pro425Leu)
c.1169C>T (p.Pro390Leu)
3g.122283712A>CCA435251846CASRc.1527A>C (p.Pro509=)
c.1788A>C (p.Pro596=)
c.1758A>C (p.Pro586=)
c.1275A>C (p.Pro425=)
c.1170A>C (p.Pro390=)
3g.122283712A>GCA435251847CASRc.1527A>G (p.Pro509=)
c.1788A>G (p.Pro596=)
c.1758A>G (p.Pro586=)
c.1275A>G (p.Pro425=)
c.1170A>G (p.Pro390=)
 ClinVar
3g.122283712A>TCA435251848CASRc.1527A>T (p.Pro509=)
c.1788A>T (p.Pro596=)
c.1758A>T (p.Pro586=)
c.1275A>T (p.Pro425=)
c.1170A>T (p.Pro390=)
3g.122283713G>ACA354157193CASRc.1528G>A (p.Asp510Asn)
c.1789G>A (p.Asp597Asn)
c.1759G>A (p.Asp587Asn)
c.1276G>A (p.Asp426Asn)
c.1171G>A (p.Asp391Asn)
3g.122283713G>CCA354157198CASRc.1528G>C (p.Asp510His)
c.1789G>C (p.Asp597His)
c.1759G>C (p.Asp587His)
c.1276G>C (p.Asp426His)
c.1171G>C (p.Asp391His)
3g.122283713G>TCA354157196CASRc.1528G>T (p.Asp510Tyr)
c.1789G>T (p.Asp597Tyr)
c.1759G>T (p.Asp587Tyr)
c.1276G>T (p.Asp426Tyr)
c.1171G>T (p.Asp391Tyr)
3g.122283713dupCA2573136445CASRc.1528dup (p.Asp510GlyfsTer2)
c.1789dup (p.Asp597GlyfsTer2)
c.1759dup (p.Asp587GlyfsTer2)
c.1276dup (p.Asp426GlyfsTer2)
c.1171dup (p.Asp391GlyfsTer2)
 ClinVar dbSNP
3g.122283714A>CCA354157200CASRc.1529A>C (p.Asp510Ala)
c.1790A>C (p.Asp597Ala)
c.1760A>C (p.Asp587Ala)
c.1277A>C (p.Asp426Ala)
c.1172A>C (p.Asp391Ala)
3g.122283714A>GCA354157202CASRc.1529A>G (p.Asp510Gly)
c.1790A>G (p.Asp597Gly)
c.1760A>G (p.Asp587Gly)
c.1277A>G (p.Asp426Gly)
c.1172A>G (p.Asp391Gly)
3g.122283714A>TCA354157204CASRc.1529A>T (p.Asp510Val)
c.1790A>T (p.Asp597Val)
c.1760A>T (p.Asp587Val)
c.1277A>T (p.Asp426Val)
c.1172A>T (p.Asp391Val)
3g.122283715T>ACA354157207CASRc.1530T>A (p.Asp510Glu)
c.1791T>A (p.Asp597Glu)
c.1761T>A (p.Asp587Glu)
c.1278T>A (p.Asp426Glu)
c.1173T>A (p.Asp391Glu)
 ClinVar
3g.122283715T>CCA435251849CASRc.1530T>C (p.Asp510=)
c.1791T>C (p.Asp597=)
c.1761T>C (p.Asp587=)
c.1278T>C (p.Asp426=)
c.1173T>C (p.Asp391=)
 dbSNP gnomAD v2 gnomAD v4
3g.122283715T>GCA354157208CASRc.1530T>G (p.Asp510Glu)
c.1791T>G (p.Asp597Glu)
c.1761T>G (p.Asp587Glu)
c.1278T>G (p.Asp426Glu)
c.1173T>G (p.Asp391Glu)
3g.122283715T=CA1397870842CASRc.1530T= (p.Asp510=)
c.1791T= (p.Asp597=)
c.1761T= (p.Asp587=)
c.1278T= (p.Asp426=)
c.1173T= (p.Asp391=)
3g.122283716G>ACA354157212CASRc.1531G>A (p.Asp511Asn)
c.1792G>A (p.Asp598Asn)
c.1762G>A (p.Asp588Asn)
c.1279G>A (p.Asp427Asn)
c.1174G>A (p.Asp392Asn)
 gnomAD v4
3g.122283716G>CCA354157214CASRc.1531G>C (p.Asp511His)
c.1792G>C (p.Asp598His)
c.1762G>C (p.Asp588His)
c.1279G>C (p.Asp427His)
c.1174G>C (p.Asp392His)
 gnomAD v4
3g.122283716G>TCA354157216CASRc.1531G>T (p.Asp511Tyr)
c.1792G>T (p.Asp598Tyr)
c.1762G>T (p.Asp588Tyr)
c.1279G>T (p.Asp427Tyr)
c.1174G>T (p.Asp392Tyr)
3g.122283717A>CCA354157217CASRc.1532A>C (p.Asp511Ala)
c.1793A>C (p.Asp598Ala)
c.1763A>C (p.Asp588Ala)
c.1280A>C (p.Asp427Ala)
c.1175A>C (p.Asp392Ala)
3g.122283717A>GCA354157220CASRc.1532A>G (p.Asp511Gly)
c.1793A>G (p.Asp598Gly)
c.1763A>G (p.Asp588Gly)
c.1280A>G (p.Asp427Gly)
c.1175A>G (p.Asp392Gly)
3g.122283717A>TCA354157222CASRc.1532A>T (p.Asp511Val)
c.1793A>T (p.Asp598Val)
c.1763A>T (p.Asp588Val)
c.1280A>T (p.Asp427Val)
c.1175A>T (p.Asp392Val)
3g.122283718C>ACA354157227CASRc.1533C>A (p.Asp511Glu)
c.1794C>A (p.Asp598Glu)
c.1764C>A (p.Asp588Glu)
c.1281C>A (p.Asp427Glu)
c.1176C>A (p.Asp392Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122283718C=CA1397870844CASRc.1533C= (p.Asp511=)
c.1794C= (p.Asp598=)
c.1764C= (p.Asp588=)
c.1281C= (p.Asp427=)
c.1176C= (p.Asp392=)
3g.122283718C>GCA354157225CASRc.1533C>G (p.Asp511Glu)
c.1794C>G (p.Asp598Glu)
c.1764C>G (p.Asp588Glu)
c.1281C>G (p.Asp427Glu)
c.1176C>G (p.Asp392Glu)
3g.122283718C>TCA435251850CASRc.1533C>T (p.Asp511=)
c.1794C>T (p.Asp598=)
c.1764C>T (p.Asp588=)
c.1281C>T (p.Asp427=)
c.1176C>T (p.Asp392=)
 ClinVar dbSNP gnomAD v4
3g.122283719T>ACA354157229CASRc.1534T>A (p.Phe512Ile)
c.1795T>A (p.Phe599Ile)
c.1765T>A (p.Phe589Ile)
c.1282T>A (p.Phe428Ile)
c.1177T>A (p.Phe393Ile)
3g.122283719T>CCA354157233CASRc.1534T>C (p.Phe512Leu)
c.1795T>C (p.Phe599Leu)
c.1765T>C (p.Phe589Leu)
c.1282T>C (p.Phe428Leu)
c.1177T>C (p.Phe393Leu)
 gnomAD v4
3g.122283719T>GCA354157231CASRc.1534T>G (p.Phe512Val)
c.1795T>G (p.Phe599Val)
c.1765T>G (p.Phe589Val)
c.1282T>G (p.Phe428Val)
c.1177T>G (p.Phe393Val)
 ClinVar dbSNP
3g.122283719T=CA1397870847CASRc.1534T= (p.Phe512=)
c.1795T= (p.Phe599=)
c.1765T= (p.Phe589=)
c.1282T= (p.Phe428=)
c.1177T= (p.Phe393=)
3g.122283720T>ACA354157235CASRc.1535T>A (p.Phe512Tyr)
c.1796T>A (p.Phe599Tyr)
c.1766T>A (p.Phe589Tyr)
c.1283T>A (p.Phe428Tyr)
c.1178T>A (p.Phe393Tyr)
3g.122283720T>CCA354157236CASRc.1535T>C (p.Phe512Ser)
c.1796T>C (p.Phe599Ser)
c.1766T>C (p.Phe589Ser)
c.1283T>C (p.Phe428Ser)
c.1178T>C (p.Phe393Ser)
 gnomAD v4
3g.122283720T>GCA354157238CASRc.1535T>G (p.Phe512Cys)
c.1796T>G (p.Phe599Cys)
c.1766T>G (p.Phe589Cys)
c.1283T>G (p.Phe428Cys)
c.1178T>G (p.Phe393Cys)
3g.122283721C>ACA354157240CASRc.1536C>A (p.Phe512Leu)
c.1797C>A (p.Phe599Leu)
c.1767C>A (p.Phe589Leu)
c.1284C>A (p.Phe428Leu)
c.1179C>A (p.Phe393Leu)
3g.122283721C=CA1397870850CASRc.1536C= (p.Phe512=)
c.1797C= (p.Phe599=)
c.1767C= (p.Phe589=)
c.1284C= (p.Phe428=)
c.1179C= (p.Phe393=)
3g.122283721C>GCA354157242CASRc.1536C>G (p.Phe512Leu)
c.1797C>G (p.Phe599Leu)
c.1767C>G (p.Phe589Leu)
c.1284C>G (p.Phe428Leu)
c.1179C>G (p.Phe393Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.122283721C>TCA435251851CASRc.1536C>T (p.Phe512=)
c.1797C>T (p.Phe599=)
c.1767C>T (p.Phe589=)
c.1284C>T (p.Phe428=)
c.1179C>T (p.Phe393=)
 ClinVar dbSNP gnomAD v4
3g.122283722T>ACA354157244CASRc.1537T>A (p.Trp513Arg)
c.1798T>A (p.Trp600Arg)
c.1768T>A (p.Trp590Arg)
c.1285T>A (p.Trp429Arg)
c.1180T>A (p.Trp394Arg)
3g.122283722T>CCA354157247CASRc.1537T>C (p.Trp513Arg)
c.1798T>C (p.Trp600Arg)
c.1768T>C (p.Trp590Arg)
c.1285T>C (p.Trp429Arg)
c.1180T>C (p.Trp394Arg)
3g.122283722T>GCA354157249CASRc.1537T>G (p.Trp513Gly)
c.1798T>G (p.Trp600Gly)
c.1768T>G (p.Trp590Gly)
c.1285T>G (p.Trp429Gly)
c.1180T>G (p.Trp394Gly)
3g.122283723G>ACA354157251CASRc.1538G>A (p.Trp513Ter)
c.1799G>A (p.Trp600Ter)
c.1769G>A (p.Trp590Ter)
c.1286G>A (p.Trp429Ter)
c.1181G>A (p.Trp394Ter)
3g.122283723G>CCA354157253CASRc.1538G>C (p.Trp513Ser)
c.1799G>C (p.Trp600Ser)
c.1769G>C (p.Trp590Ser)
c.1286G>C (p.Trp429Ser)
c.1181G>C (p.Trp394Ser)
3g.122283723G>TCA354157255CASRc.1538G>T (p.Trp513Leu)
c.1799G>T (p.Trp600Leu)
c.1769G>T (p.Trp590Leu)
c.1286G>T (p.Trp429Leu)
c.1181G>T (p.Trp394Leu)
3g.122283724delCA645526042CASRc.1539del (p.Trp513CysfsTer?)
c.1800del (p.Trp600CysfsTer?)
c.1770del (p.Trp590CysfsTer?)
c.1287del (p.Trp429CysfsTer?)
c.1182del (p.Trp394CysfsTer?)
 COSMIC
3g.122283724G>ACA354157257CASRc.1539G>A (p.Trp513Ter)
c.1800G>A (p.Trp600Ter)
c.1770G>A (p.Trp590Ter)
c.1287G>A (p.Trp429Ter)
c.1182G>A (p.Trp394Ter)
 dbSNP gnomAD v3 gnomAD v4
3g.122283724G>CCA354157260CASRc.1539G>C (p.Trp513Cys)
c.1800G>C (p.Trp600Cys)
c.1770G>C (p.Trp590Cys)
c.1287G>C (p.Trp429Cys)
c.1182G>C (p.Trp394Cys)
 gnomAD v4
3g.122283724G=CA1397870854CASRc.1539G= (p.Trp513=)
c.1800G= (p.Trp600=)
c.1770G= (p.Trp590=)
c.1287G= (p.Trp429=)
c.1182G= (p.Trp394=)
3g.122283724G>TCA354157262CASRc.1539G>T (p.Trp513Cys)
c.1800G>T (p.Trp600Cys)
c.1770G>T (p.Trp590Cys)
c.1287G>T (p.Trp429Cys)
c.1182G>T (p.Trp394Cys)
3g.122283725T>ACA354157269CASRc.1540T>A (p.Ser514Thr)
c.1801T>A (p.Ser601Thr)
c.1771T>A (p.Ser591Thr)
c.1288T>A (p.Ser430Thr)
c.1183T>A (p.Ser395Thr)
3g.122283725T>CCA354157267CASRc.1540T>C (p.Ser514Pro)
c.1801T>C (p.Ser601Pro)
c.1771T>C (p.Ser591Pro)
c.1288T>C (p.Ser430Pro)
c.1183T>C (p.Ser395Pro)
3g.122283725T>GCA354157264CASRc.1540T>G (p.Ser514Ala)
c.1801T>G (p.Ser601Ala)
c.1771T>G (p.Ser591Ala)
c.1288T>G (p.Ser430Ala)
c.1183T>G (p.Ser395Ala)
3g.122283726C>ACA354157270CASRc.1541C>A (p.Ser514Tyr)
c.1802C>A (p.Ser601Tyr)
c.1772C>A (p.Ser591Tyr)
c.1289C>A (p.Ser430Tyr)
c.1184C>A (p.Ser395Tyr)
3g.122283726C>GCA354157273CASRc.1541C>G (p.Ser514Cys)
c.1802C>G (p.Ser601Cys)
c.1772C>G (p.Ser591Cys)
c.1289C>G (p.Ser430Cys)
c.1184C>G (p.Ser395Cys)
3g.122283726C>TCA354157274CASRc.1541C>T (p.Ser514Phe)
c.1802C>T (p.Ser601Phe)
c.1772C>T (p.Ser591Phe)
c.1289C>T (p.Ser430Phe)
c.1184C>T (p.Ser395Phe)
 ClinVar
3g.122283727C>ACA435251852CASRc.1542C>A (p.Ser514=)
c.1803C>A (p.Ser601=)
c.1773C>A (p.Ser591=)
c.1290C>A (p.Ser430=)
c.1185C>A (p.Ser395=)
3g.122283727C>GCA435251853CASRc.1542C>G (p.Ser514=)
c.1803C>G (p.Ser601=)
c.1773C>G (p.Ser591=)
c.1290C>G (p.Ser430=)
c.1185C>G (p.Ser395=)
3g.122283727C>TCA435251854CASRc.1542C>T (p.Ser514=)
c.1803C>T (p.Ser601=)
c.1773C>T (p.Ser591=)
c.1290C>T (p.Ser430=)
c.1185C>T (p.Ser395=)
3g.122283727_122283728delCA2499216408CASRc.1542_1543del (p.Asn515Ter)
c.1803_1804del (p.Asn602Ter)
c.1773_1774del (p.Asn592Ter)
c.1290_1291del (p.Asn431Ter)
c.1185_1186del (p.Asn396Ter)
 ClinVar dbSNP
3g.122283728A=CA1397870860CASRc.1543A= (p.Asn515=)
c.1804A= (p.Asn602=)
c.1774A= (p.Asn592=)
c.1291A= (p.Asn431=)
c.1186A= (p.Asn396=)
3g.122283728A>CCA354157276CASRc.1543A>C (p.Asn515His)
c.1804A>C (p.Asn602His)
c.1774A>C (p.Asn592His)
c.1291A>C (p.Asn431His)
c.1186A>C (p.Asn396His)
3g.122283728A>GCA354157278CASRc.1543A>G (p.Asn515Asp)
c.1804A>G (p.Asn602Asp)
c.1774A>G (p.Asn592Asp)
c.1291A>G (p.Asn431Asp)
c.1186A>G (p.Asn396Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122283728A>TCA354157280CASRc.1543A>T (p.Asn515Tyr)
c.1804A>T (p.Asn602Tyr)
c.1774A>T (p.Asn592Tyr)
c.1291A>T (p.Asn431Tyr)
c.1186A>T (p.Asn396Tyr)
3g.122283729A=CA1397870863CASRc.1544A= (p.Asn515=)
c.1805A= (p.Asn602=)
c.1775A= (p.Asn592=)
c.1292A= (p.Asn431=)
c.1187A= (p.Asn396=)
3g.122283729A>CCA354157282CASRc.1544A>C (p.Asn515Thr)
c.1805A>C (p.Asn602Thr)
c.1775A>C (p.Asn592Thr)
c.1292A>C (p.Asn431Thr)
c.1187A>C (p.Asn396Thr)
3g.122283729A>GCA2569742CASRc.1544A>G (p.Asn515Ser)
c.1805A>G (p.Asn602Ser)
c.1775A>G (p.Asn592Ser)
c.1292A>G (p.Asn431Ser)
c.1187A>G (p.Asn396Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122283729A>TCA354157285CASRc.1544A>T (p.Asn515Ile)
c.1805A>T (p.Asn602Ile)
c.1775A>T (p.Asn592Ile)
c.1292A>T (p.Asn431Ile)
c.1187A>T (p.Asn396Ile)
 ClinVar
3g.122283730T>ACA354157286CASRc.1545T>A (p.Asn515Lys)
c.1806T>A (p.Asn602Lys)
c.1776T>A (p.Asn592Lys)
c.1293T>A (p.Asn431Lys)
c.1188T>A (p.Asn396Lys)
 ClinVar dbSNP
3g.122283730T>CCA435251855CASRc.1545T>C (p.Asn515=)
c.1806T>C (p.Asn602=)
c.1776T>C (p.Asn592=)
c.1293T>C (p.Asn431=)
c.1188T>C (p.Asn396=)
3g.122283730T>GCA354157288CASRc.1545T>G (p.Asn515Lys)
c.1806T>G (p.Asn602Lys)
c.1776T>G (p.Asn592Lys)
c.1293T>G (p.Asn431Lys)
c.1188T>G (p.Asn396Lys)
 gnomAD v4
3g.122283731G>ACA82748532CASRc.1546G>A (p.Glu516Lys)
c.1807G>A (p.Glu603Lys)
c.1777G>A (p.Glu593Lys)
c.1294G>A (p.Glu432Lys)
c.1189G>A (p.Glu397Lys)
 dbSNP
3g.122283731G>CCA354157291CASRc.1546G>C (p.Glu516Gln)
c.1807G>C (p.Glu603Gln)
c.1777G>C (p.Glu593Gln)
c.1294G>C (p.Glu432Gln)
c.1189G>C (p.Glu397Gln)
3g.122283731G=CA1397870886CASRc.1546G= (p.Glu516=)
c.1807G= (p.Glu603=)
c.1777G= (p.Glu593=)
c.1294G= (p.Glu432=)
c.1189G= (p.Glu397=)
3g.122283731G>TCA354157292CASRc.1546G>T (p.Glu516Ter)
c.1807G>T (p.Glu603Ter)
c.1777G>T (p.Glu593Ter)
c.1294G>T (p.Glu432Ter)
c.1189G>T (p.Glu397Ter)
3g.122283732A=CA1397870891CASRc.1547A= (p.Glu516=)
c.1808A= (p.Glu603=)
c.1778A= (p.Glu593=)
c.1295A= (p.Glu432=)
c.1190A= (p.Glu397=)
3g.122283732A>CCA354157296CASRc.1547A>C (p.Glu516Ala)
c.1808A>C (p.Glu603Ala)
c.1778A>C (p.Glu593Ala)
c.1295A>C (p.Glu432Ala)
c.1190A>C (p.Glu397Ala)
3g.122283732A>GCA354157297CASRc.1547A>G (p.Glu516Gly)
c.1808A>G (p.Glu603Gly)
c.1778A>G (p.Glu593Gly)
c.1295A>G (p.Glu432Gly)
c.1190A>G (p.Glu397Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.122283732A>TCA354157294CASRc.1547A>T (p.Glu516Val)
c.1808A>T (p.Glu603Val)
c.1778A>T (p.Glu593Val)
c.1295A>T (p.Glu432Val)
c.1190A>T (p.Glu397Val)
3g.122283733G>ACA435251856CASRc.1548G>A (p.Glu516=)
c.1809G>A (p.Glu603=)
c.1779G>A (p.Glu593=)
c.1296G>A (p.Glu432=)
c.1191G>A (p.Glu397=)
3g.122283733G>CCA354157299CASRc.1548G>C (p.Glu516Asp)
c.1809G>C (p.Glu603Asp)
c.1779G>C (p.Glu593Asp)
c.1296G>C (p.Glu432Asp)
c.1191G>C (p.Glu397Asp)
3g.122283733G>TCA354157302CASRc.1548G>T (p.Glu516Asp)
c.1809G>T (p.Glu603Asp)
c.1779G>T (p.Glu593Asp)
c.1296G>T (p.Glu432Asp)
c.1191G>T (p.Glu397Asp)
3g.122283734A>CCA354157304CASRc.1549A>C (p.Asn517His)
c.1810A>C (p.Asn604His)
c.1780A>C (p.Asn594His)
c.1297A>C (p.Asn433His)
c.1192A>C (p.Asn398His)
3g.122283734A>GCA354157306CASRc.1549A>G (p.Asn517Asp)
c.1810A>G (p.Asn604Asp)
c.1780A>G (p.Asn594Asp)
c.1297A>G (p.Asn433Asp)
c.1192A>G (p.Asn398Asp)
3g.122283734A>TCA354157308CASRc.1549A>T (p.Asn517Tyr)
c.1810A>T (p.Asn604Tyr)
c.1780A>T (p.Asn594Tyr)
c.1297A>T (p.Asn433Tyr)
c.1192A>T (p.Asn398Tyr)
3g.122283735A=CA1397870893CASRc.1550A= (p.Asn517=)
c.1811A= (p.Asn604=)
c.1781A= (p.Asn594=)
c.1298A= (p.Asn433=)
c.1193A= (p.Asn398=)
3g.122283735A>CCA354157310CASRc.1550A>C (p.Asn517Thr)
c.1811A>C (p.Asn604Thr)
c.1781A>C (p.Asn594Thr)
c.1298A>C (p.Asn433Thr)
c.1193A>C (p.Asn398Thr)
3g.122283735A>GCA2569743CASRc.1550A>G (p.Asn517Ser)
c.1811A>G (p.Asn604Ser)
c.1781A>G (p.Asn594Ser)
c.1298A>G (p.Asn433Ser)
c.1193A>G (p.Asn398Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122283735A>TCA354157312CASRc.1550A>T (p.Asn517Ile)
c.1811A>T (p.Asn604Ile)
c.1781A>T (p.Asn594Ile)
c.1298A>T (p.Asn433Ile)
c.1193A>T (p.Asn398Ile)
3g.122283736C>ACA354157314CASRc.1551C>A (p.Asn517Lys)
c.1812C>A (p.Asn604Lys)
c.1782C>A (p.Asn594Lys)
c.1299C>A (p.Asn433Lys)
c.1194C>A (p.Asn398Lys)
3g.122283736C>GCA354157317CASRc.1551C>G (p.Asn517Lys)
c.1812C>G (p.Asn604Lys)
c.1782C>G (p.Asn594Lys)
c.1299C>G (p.Asn433Lys)
c.1194C>G (p.Asn398Lys)
3g.122283736C>TCA435251857CASRc.1551C>T (p.Asn517=)
c.1812C>T (p.Asn604=)
c.1782C>T (p.Asn594=)
c.1299C>T (p.Asn433=)
c.1194C>T (p.Asn398=)
 ClinVar
3g.122283737delCA2499216409CASRc.1552del (p.His518ThrfsTer?)
c.1813del (p.His605ThrfsTer?)
c.1783del (p.His595ThrfsTer?)
c.1300del (p.His434ThrfsTer?)
c.1195del (p.His399ThrfsTer?)
 ClinVar dbSNP
3g.122283737C>ACA354157320CASRc.1552C>A (p.His518Asn)
c.1813C>A (p.His605Asn)
c.1783C>A (p.His595Asn)
c.1300C>A (p.His434Asn)
c.1195C>A (p.His399Asn)
3g.122283737C>GCA354157322CASRc.1552C>G (p.His518Asp)
c.1813C>G (p.His605Asp)
c.1783C>G (p.His595Asp)
c.1300C>G (p.His434Asp)
c.1195C>G (p.His399Asp)
3g.122283737C>TCA354157324CASRc.1552C>T (p.His518Tyr)
c.1813C>T (p.His605Tyr)
c.1783C>T (p.His595Tyr)
c.1300C>T (p.His434Tyr)
c.1195C>T (p.His399Tyr)
3g.122283738A>CCA354157331CASRc.1553A>C (p.His518Pro)
c.1814A>C (p.His605Pro)
c.1784A>C (p.His595Pro)
c.1301A>C (p.His434Pro)
c.1196A>C (p.His399Pro)
3g.122283738A>GCA354157326CASRc.1553A>G (p.His518Arg)
c.1814A>G (p.His605Arg)
c.1784A>G (p.His595Arg)
c.1301A>G (p.His434Arg)
c.1196A>G (p.His399Arg)
3g.122283738A>TCA354157329CASRc.1553A>T (p.His518Leu)
c.1814A>T (p.His605Leu)
c.1784A>T (p.His595Leu)
c.1301A>T (p.His434Leu)
c.1196A>T (p.His399Leu)

Number of alleles fetched