Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.24596058G>A | CA362971212 | KIAA0319 | c.616C>T (p.Pro206Ser) c.481C>T (p.Pro161Ser) c.589C>T (p.Pro197Ser) c.160C>T (p.Pro54Ser) c.634C>T (p.Pro212Ser) c.598C>T (p.Pro200Ser) n.859C>T | |
6 | g.24596058G>C | CA362971213 | KIAA0319 | c.616C>G (p.Pro206Ala) c.481C>G (p.Pro161Ala) c.589C>G (p.Pro197Ala) c.160C>G (p.Pro54Ala) c.634C>G (p.Pro212Ala) c.598C>G (p.Pro200Ala) n.859C>G | |
6 | g.24596058G>T | CA362971214 | KIAA0319 | c.616C>A (p.Pro206Thr) c.481C>A (p.Pro161Thr) c.589C>A (p.Pro197Thr) c.160C>A (p.Pro54Thr) c.634C>A (p.Pro212Thr) c.598C>A (p.Pro200Thr) n.859C>A | |
6 | g.24596059C>A | CA448958822 | KIAA0319 | c.615G>T (p.Val205=) c.480G>T (p.Val160=) c.588G>T (p.Val196=) c.159G>T (p.Val53=) c.633G>T (p.Val211=) c.597G>T (p.Val199=) n.858G>T | dbSNP |
6 | g.24596059C= | CA1616548777 | KIAA0319 | c.615G= (p.Val205=) c.480G= (p.Val160=) c.588G= (p.Val196=) c.159G= (p.Val53=) c.633G= (p.Val211=) c.597G= (p.Val199=) n.858G= | |
6 | g.24596059C>G | CA448958823 | KIAA0319 | c.615G>C (p.Val205=) c.480G>C (p.Val160=) c.588G>C (p.Val196=) c.159G>C (p.Val53=) c.633G>C (p.Val211=) c.597G>C (p.Val199=) n.858G>C | |
6 | g.24596059C>T | CA448958821 | KIAA0319 | c.615G>A (p.Val205=) c.480G>A (p.Val160=) c.588G>A (p.Val196=) c.159G>A (p.Val53=) c.633G>A (p.Val211=) c.597G>A (p.Val199=) n.858G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596060A>C | CA362971215 | KIAA0319 | c.614T>G (p.Val205Gly) c.479T>G (p.Val160Gly) c.587T>G (p.Val196Gly) c.158T>G (p.Val53Gly) c.632T>G (p.Val211Gly) c.596T>G (p.Val199Gly) n.857T>G | |
6 | g.24596060A>G | CA362971216 | KIAA0319 | c.614T>C (p.Val205Ala) c.479T>C (p.Val160Ala) c.587T>C (p.Val196Ala) c.158T>C (p.Val53Ala) c.632T>C (p.Val211Ala) c.596T>C (p.Val199Ala) n.857T>C | |
6 | g.24596060A>T | CA362971217 | KIAA0319 | c.614T>A (p.Val205Glu) c.479T>A (p.Val160Glu) c.587T>A (p.Val196Glu) c.158T>A (p.Val53Glu) c.632T>A (p.Val211Glu) c.596T>A (p.Val199Glu) n.857T>A | |
6 | g.24596061C>A | CA362971218 | KIAA0319 | c.613G>T (p.Val205Leu) c.478G>T (p.Val160Leu) c.586G>T (p.Val196Leu) c.157G>T (p.Val53Leu) c.631G>T (p.Val211Leu) c.595G>T (p.Val199Leu) n.856G>T | |
6 | g.24596061C>G | CA362971219 | KIAA0319 | c.613G>C (p.Val205Leu) c.478G>C (p.Val160Leu) c.586G>C (p.Val196Leu) c.157G>C (p.Val53Leu) c.631G>C (p.Val211Leu) c.595G>C (p.Val199Leu) n.856G>C | |
6 | g.24596061C>T | CA362971220 | KIAA0319 | c.613G>A (p.Val205Met) c.478G>A (p.Val160Met) c.586G>A (p.Val196Met) c.157G>A (p.Val53Met) c.631G>A (p.Val211Met) c.595G>A (p.Val199Met) n.856G>A | |
6 | g.24596062C>A | CA448958825 | KIAA0319 | c.612G>T (p.Ala204=) c.477G>T (p.Ala159=) c.585G>T (p.Ala195=) c.156G>T (p.Ala52=) c.630G>T (p.Ala210=) c.594G>T (p.Ala198=) n.855G>T | gnomAD v4 COSMIC |
6 | g.24596062C= | CA1616548778 | KIAA0319 | c.612G= (p.Ala204=) c.477G= (p.Ala159=) c.585G= (p.Ala195=) c.156G= (p.Ala52=) c.630G= (p.Ala210=) c.594G= (p.Ala198=) n.855G= | |
6 | g.24596062C>G | CA448958824 | KIAA0319 | c.612G>C (p.Ala204=) c.477G>C (p.Ala159=) c.585G>C (p.Ala195=) c.156G>C (p.Ala52=) c.630G>C (p.Ala210=) c.594G>C (p.Ala198=) n.855G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596062C>T | CA3657809 | KIAA0319 | c.612G>A (p.Ala204=) c.477G>A (p.Ala159=) c.585G>A (p.Ala195=) c.156G>A (p.Ala52=) c.630G>A (p.Ala210=) c.594G>A (p.Ala198=) n.855G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596063G>A | CA3657810 | KIAA0319 | c.611C>T (p.Ala204Val) c.476C>T (p.Ala159Val) c.584C>T (p.Ala195Val) c.155C>T (p.Ala52Val) c.629C>T (p.Ala210Val) c.593C>T (p.Ala198Val) n.854C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596063G>C | CA362971221 | KIAA0319 | c.611C>G (p.Ala204Gly) c.476C>G (p.Ala159Gly) c.584C>G (p.Ala195Gly) c.155C>G (p.Ala52Gly) c.629C>G (p.Ala210Gly) c.593C>G (p.Ala198Gly) n.854C>G | |
6 | g.24596063G= | CA1616548779 | KIAA0319 | c.611C= (p.Ala204=) c.476C= (p.Ala159=) c.584C= (p.Ala195=) c.155C= (p.Ala52=) c.629C= (p.Ala210=) c.593C= (p.Ala198=) n.854C= | |
6 | g.24596063G>T | CA362971222 | KIAA0319 | c.611C>A (p.Ala204Glu) c.476C>A (p.Ala159Glu) c.584C>A (p.Ala195Glu) c.155C>A (p.Ala52Glu) c.629C>A (p.Ala210Glu) c.593C>A (p.Ala198Glu) n.854C>A | COSMIC |
6 | g.24596064C>A | CA362971225 | KIAA0319 | c.610G>T (p.Ala204Ser) c.475G>T (p.Ala159Ser) c.583G>T (p.Ala195Ser) c.154G>T (p.Ala52Ser) c.628G>T (p.Ala210Ser) c.592G>T (p.Ala198Ser) n.853G>T | |
6 | g.24596064C>G | CA362971224 | KIAA0319 | c.610G>C (p.Ala204Pro) c.475G>C (p.Ala159Pro) c.583G>C (p.Ala195Pro) c.154G>C (p.Ala52Pro) c.628G>C (p.Ala210Pro) c.592G>C (p.Ala198Pro) n.853G>C | |
6 | g.24596064C>T | CA362971223 | KIAA0319 | c.610G>A (p.Ala204Thr) c.475G>A (p.Ala159Thr) c.583G>A (p.Ala195Thr) c.154G>A (p.Ala52Thr) c.628G>A (p.Ala210Thr) c.592G>A (p.Ala198Thr) n.853G>A | COSMIC |
6 | g.24596065A>C | CA448958828 | KIAA0319 | c.609T>G (p.Pro203=) c.474T>G (p.Pro158=) c.582T>G (p.Pro194=) c.153T>G (p.Pro51=) c.627T>G (p.Pro209=) c.591T>G (p.Pro197=) n.852T>G | |
6 | g.24596065A>G | CA448958826 | KIAA0319 | c.609T>C (p.Pro203=) c.474T>C (p.Pro158=) c.582T>C (p.Pro194=) c.153T>C (p.Pro51=) c.627T>C (p.Pro209=) c.591T>C (p.Pro197=) n.852T>C | |
6 | g.24596065A>T | CA448958827 | KIAA0319 | c.609T>A (p.Pro203=) c.474T>A (p.Pro158=) c.582T>A (p.Pro194=) c.153T>A (p.Pro51=) c.627T>A (p.Pro209=) c.591T>A (p.Pro197=) n.852T>A | |
6 | g.24596066G>A | CA362971227 | KIAA0319 | c.608C>T (p.Pro203Leu) c.473C>T (p.Pro158Leu) c.581C>T (p.Pro194Leu) c.152C>T (p.Pro51Leu) c.626C>T (p.Pro209Leu) c.590C>T (p.Pro197Leu) n.851C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596066G>C | CA362971226 | KIAA0319 | c.608C>G (p.Pro203Arg) c.473C>G (p.Pro158Arg) c.581C>G (p.Pro194Arg) c.152C>G (p.Pro51Arg) c.626C>G (p.Pro209Arg) c.590C>G (p.Pro197Arg) n.851C>G | dbSNP gnomAD v4 |
6 | g.24596066G= | CA1616548780 | KIAA0319 | c.608C= (p.Pro203=) c.473C= (p.Pro158=) c.581C= (p.Pro194=) c.152C= (p.Pro51=) c.626C= (p.Pro209=) c.590C= (p.Pro197=) n.851C= | |
6 | g.24596066G>T | CA362971228 | KIAA0319 | c.608C>A (p.Pro203His) c.473C>A (p.Pro158His) c.581C>A (p.Pro194His) c.152C>A (p.Pro51His) c.626C>A (p.Pro209His) c.590C>A (p.Pro197His) n.851C>A | |
6 | g.24596067G>A | CA362971229 | KIAA0319 | c.607C>T (p.Pro203Ser) c.472C>T (p.Pro158Ser) c.580C>T (p.Pro194Ser) c.151C>T (p.Pro51Ser) c.625C>T (p.Pro209Ser) c.589C>T (p.Pro197Ser) n.850C>T | gnomAD v4 |
6 | g.24596067G>C | CA362971231 | KIAA0319 | c.607C>G (p.Pro203Ala) c.472C>G (p.Pro158Ala) c.580C>G (p.Pro194Ala) c.151C>G (p.Pro51Ala) c.625C>G (p.Pro209Ala) c.589C>G (p.Pro197Ala) n.850C>G | |
6 | g.24596067G>T | CA362971230 | KIAA0319 | c.607C>A (p.Pro203Thr) c.472C>A (p.Pro158Thr) c.580C>A (p.Pro194Thr) c.151C>A (p.Pro51Thr) c.625C>A (p.Pro209Thr) c.589C>A (p.Pro197Thr) n.850C>A | gnomAD v4 |
6 | g.24596068A= | CA1616548781 | KIAA0319 | c.606T= (p.Ser202=) c.471T= (p.Ser157=) c.579T= (p.Ser193=) c.150T= (p.Ser50=) c.624T= (p.Ser208=) c.588T= (p.Ser196=) n.849T= | |
6 | g.24596068A>C | CA362971232 | KIAA0319 | c.606T>G (p.Ser202Arg) c.471T>G (p.Ser157Arg) c.579T>G (p.Ser193Arg) c.150T>G (p.Ser50Arg) c.624T>G (p.Ser208Arg) c.588T>G (p.Ser196Arg) n.849T>G | |
6 | g.24596068A>G | CA448958829 | KIAA0319 | c.606T>C (p.Ser202=) c.471T>C (p.Ser157=) c.579T>C (p.Ser193=) c.150T>C (p.Ser50=) c.624T>C (p.Ser208=) c.588T>C (p.Ser196=) n.849T>C | |
6 | g.24596068A>T | CA362971233 | KIAA0319 | c.606T>A (p.Ser202Arg) c.471T>A (p.Ser157Arg) c.579T>A (p.Ser193Arg) c.150T>A (p.Ser50Arg) c.624T>A (p.Ser208Arg) c.588T>A (p.Ser196Arg) n.849T>A | |
6 | g.24596069C>A | CA362971234 | KIAA0319 | c.605G>T (p.Ser202Ile) c.470G>T (p.Ser157Ile) c.578G>T (p.Ser193Ile) c.149G>T (p.Ser50Ile) c.623G>T (p.Ser208Ile) c.587G>T (p.Ser196Ile) n.848G>T | |
6 | g.24596069C= | CA1616548782 | KIAA0319 | c.605G= (p.Ser202=) c.470G= (p.Ser157=) c.578G= (p.Ser193=) c.149G= (p.Ser50=) c.623G= (p.Ser208=) c.587G= (p.Ser196=) n.848G= | |
6 | g.24596069C>G | CA362971235 | KIAA0319 | c.605G>C (p.Ser202Thr) c.470G>C (p.Ser157Thr) c.578G>C (p.Ser193Thr) c.149G>C (p.Ser50Thr) c.623G>C (p.Ser208Thr) c.587G>C (p.Ser196Thr) n.848G>C | |
6 | g.24596069C>T | CA362971236 | KIAA0319 | c.605G>A (p.Ser202Asn) c.470G>A (p.Ser157Asn) c.578G>A (p.Ser193Asn) c.149G>A (p.Ser50Asn) c.623G>A (p.Ser208Asn) c.587G>A (p.Ser196Asn) n.848G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596069_24596070insCC | CA1616548783 | KIAA0319 | c.605_606insGG (p.Ser202ArgfsTer18) c.470_471insGG (p.Ser157ArgfsTer18) c.578_579insGG (p.Ser193ArgfsTer18) c.149_150insGG (p.Ser50ArgfsTer18) c.623_624insGG (p.Ser208ArgfsTer18) c.587_588insGG (p.Ser196ArgfsTer18) n.848_849insGG | dbSNP |
6 | g.24596070T>A | CA362971237 | KIAA0319 | c.604A>T (p.Ser202Cys) c.469A>T (p.Ser157Cys) c.577A>T (p.Ser193Cys) c.148A>T (p.Ser50Cys) c.622A>T (p.Ser208Cys) c.586A>T (p.Ser196Cys) n.847A>T | |
6 | g.24596070T>C | CA362971238 | KIAA0319 | c.604A>G (p.Ser202Gly) c.469A>G (p.Ser157Gly) c.577A>G (p.Ser193Gly) c.148A>G (p.Ser50Gly) c.622A>G (p.Ser208Gly) c.586A>G (p.Ser196Gly) n.847A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596070T>G | CA362971239 | KIAA0319 | c.604A>C (p.Ser202Arg) c.469A>C (p.Ser157Arg) c.577A>C (p.Ser193Arg) c.148A>C (p.Ser50Arg) c.622A>C (p.Ser208Arg) c.586A>C (p.Ser196Arg) n.847A>C | |
6 | g.24596070T= | CA1616548784 | KIAA0319 | c.604A= (p.Ser202=) c.469A= (p.Ser157=) c.577A= (p.Ser193=) c.148A= (p.Ser50=) c.622A= (p.Ser208=) c.586A= (p.Ser196=) n.847A= | |
6 | g.24596071G>A | CA448958830 | KIAA0319 | c.603C>T (p.Asp201=) c.468C>T (p.Asp156=) c.576C>T (p.Asp192=) c.147C>T (p.Asp49=) c.621C>T (p.Asp207=) c.585C>T (p.Asp195=) n.846C>T | |
6 | g.24596071G>C | CA362971240 | KIAA0319 | c.603C>G (p.Asp201Glu) c.468C>G (p.Asp156Glu) c.576C>G (p.Asp192Glu) c.147C>G (p.Asp49Glu) c.621C>G (p.Asp207Glu) c.585C>G (p.Asp195Glu) n.846C>G | |
6 | g.24596071G= | CA1616548785 | KIAA0319 | c.603C= (p.Asp201=) c.468C= (p.Asp156=) c.576C= (p.Asp192=) c.147C= (p.Asp49=) c.621C= (p.Asp207=) c.585C= (p.Asp195=) n.846C= | |
6 | g.24596071G>T | CA362971241 | KIAA0319 | c.603C>A (p.Asp201Glu) c.468C>A (p.Asp156Glu) c.576C>A (p.Asp192Glu) c.147C>A (p.Asp49Glu) c.621C>A (p.Asp207Glu) c.585C>A (p.Asp195Glu) n.846C>A | |
6 | g.24596071_24596075dup | CA2578543688 | KIAA0319 | c.599_603dup (p.Ser202GlufsTer19) c.464_468dup (p.Ser157GlufsTer19) c.572_576dup (p.Ser193GlufsTer19) c.143_147dup (p.Ser50GlufsTer19) c.617_621dup (p.Ser208GlufsTer19) c.581_585dup (p.Ser196GlufsTer19) n.842_846dup | |
6 | g.24596071_24596072insA | CA1616548786 | KIAA0319 | c.602_603insT (p.Ser202GlnfsTer13) c.467_468insT (p.Ser157GlnfsTer13) c.575_576insT (p.Ser193GlnfsTer13) c.146_147insT (p.Ser50GlnfsTer13) c.620_621insT (p.Ser208GlnfsTer13) c.584_585insT (p.Ser196GlnfsTer13) n.845_846insT | dbSNP |
6 | g.24596072T>A | CA362971243 | KIAA0319 | c.602A>T (p.Asp201Val) c.467A>T (p.Asp156Val) c.575A>T (p.Asp192Val) c.146A>T (p.Asp49Val) c.620A>T (p.Asp207Val) c.584A>T (p.Asp195Val) n.845A>T | |
6 | g.24596072T>C | CA3657811 | KIAA0319 | c.602A>G (p.Asp201Gly) c.467A>G (p.Asp156Gly) c.575A>G (p.Asp192Gly) c.146A>G (p.Asp49Gly) c.620A>G (p.Asp207Gly) c.584A>G (p.Asp195Gly) n.845A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596072T>G | CA362971242 | KIAA0319 | c.602A>C (p.Asp201Ala) c.467A>C (p.Asp156Ala) c.575A>C (p.Asp192Ala) c.146A>C (p.Asp49Ala) c.620A>C (p.Asp207Ala) c.584A>C (p.Asp195Ala) n.845A>C | dbSNP |
6 | g.24596072T= | CA1616548787 | KIAA0319 | c.602A= (p.Asp201=) c.467A= (p.Asp156=) c.575A= (p.Asp192=) c.146A= (p.Asp49=) c.620A= (p.Asp207=) c.584A= (p.Asp195=) n.845A= | |
6 | g.24596073C>A | CA362971244 | KIAA0319 | c.601G>T (p.Asp201Tyr) c.466G>T (p.Asp156Tyr) c.574G>T (p.Asp192Tyr) c.145G>T (p.Asp49Tyr) c.619G>T (p.Asp207Tyr) c.583G>T (p.Asp195Tyr) n.844G>T | |
6 | g.24596073C= | CA1616548788 | KIAA0319 | c.601G= (p.Asp201=) c.466G= (p.Asp156=) c.574G= (p.Asp192=) c.145G= (p.Asp49=) c.619G= (p.Asp207=) c.583G= (p.Asp195=) n.844G= | |
6 | g.24596073C>G | CA362971245 | KIAA0319 | c.601G>C (p.Asp201His) c.466G>C (p.Asp156His) c.574G>C (p.Asp192His) c.145G>C (p.Asp49His) c.619G>C (p.Asp207His) c.583G>C (p.Asp195His) n.844G>C | |
6 | g.24596073C>T | CA136131340 | KIAA0319 | c.601G>A (p.Asp201Asn) c.466G>A (p.Asp156Asn) c.574G>A (p.Asp192Asn) c.145G>A (p.Asp49Asn) c.619G>A (p.Asp207Asn) c.583G>A (p.Asp195Asn) n.844G>A | dbSNP gnomAD v4 |
6 | g.24596074T>A | CA448958831 | KIAA0319 | c.600A>T (p.Gly200=) c.465A>T (p.Gly155=) c.573A>T (p.Gly191=) c.144A>T (p.Gly48=) c.618A>T (p.Gly206=) c.582A>T (p.Gly194=) n.843A>T | gnomAD v4 |
6 | g.24596074T>C | CA448958832 | KIAA0319 | c.600A>G (p.Gly200=) c.465A>G (p.Gly155=) c.573A>G (p.Gly191=) c.144A>G (p.Gly48=) c.618A>G (p.Gly206=) c.582A>G (p.Gly194=) n.843A>G | |
6 | g.24596074T>G | CA448958833 | KIAA0319 | c.600A>C (p.Gly200=) c.465A>C (p.Gly155=) c.573A>C (p.Gly191=) c.144A>C (p.Gly48=) c.618A>C (p.Gly206=) c.582A>C (p.Gly194=) n.843A>C | |
6 | g.24596075C>A | CA362971246 | KIAA0319 | c.599G>T (p.Gly200Val) c.464G>T (p.Gly155Val) c.572G>T (p.Gly191Val) c.143G>T (p.Gly48Val) c.617G>T (p.Gly206Val) c.581G>T (p.Gly194Val) n.842G>T | |
6 | g.24596075C= | CA1616548789 | KIAA0319 | c.599G= (p.Gly200=) c.464G= (p.Gly155=) c.572G= (p.Gly191=) c.143G= (p.Gly48=) c.617G= (p.Gly206=) c.581G= (p.Gly194=) n.842G= | |
6 | g.24596075C>G | CA362971247 | KIAA0319 | c.599G>C (p.Gly200Ala) c.464G>C (p.Gly155Ala) c.572G>C (p.Gly191Ala) c.143G>C (p.Gly48Ala) c.617G>C (p.Gly206Ala) c.581G>C (p.Gly194Ala) n.842G>C | |
6 | g.24596075C>T | CA3657812 | KIAA0319 | c.599G>A (p.Gly200Glu) c.464G>A (p.Gly155Glu) c.572G>A (p.Gly191Glu) c.143G>A (p.Gly48Glu) c.617G>A (p.Gly206Glu) c.581G>A (p.Gly194Glu) n.842G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596076C>A | CA362971248 | KIAA0319 | c.598G>T (p.Gly200Ter) c.463G>T (p.Gly155Ter) c.571G>T (p.Gly191Ter) c.142G>T (p.Gly48Ter) c.616G>T (p.Gly206Ter) c.580G>T (p.Gly194Ter) n.841G>T | |
6 | g.24596076C= | CA1616548790 | KIAA0319 | c.598G= (p.Gly200=) c.463G= (p.Gly155=) c.571G= (p.Gly191=) c.142G= (p.Gly48=) c.616G= (p.Gly206=) c.580G= (p.Gly194=) n.841G= | |
6 | g.24596076C>G | CA362971249 | KIAA0319 | c.598G>C (p.Gly200Arg) c.463G>C (p.Gly155Arg) c.571G>C (p.Gly191Arg) c.142G>C (p.Gly48Arg) c.616G>C (p.Gly206Arg) c.580G>C (p.Gly194Arg) n.841G>C | dbSNP |
6 | g.24596076C>T | CA3657813 | KIAA0319 | c.598G>A (p.Gly200Arg) c.463G>A (p.Gly155Arg) c.571G>A (p.Gly191Arg) c.142G>A (p.Gly48Arg) c.616G>A (p.Gly206Arg) c.580G>A (p.Gly194Arg) n.841G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596077A>C | CA448958834 | KIAA0319 | c.597T>G (p.Val199=) c.462T>G (p.Val154=) c.570T>G (p.Val190=) c.141T>G (p.Val47=) c.615T>G (p.Val205=) c.579T>G (p.Val193=) n.840T>G | |
6 | g.24596077A>G | CA448958835 | KIAA0319 | c.597T>C (p.Val199=) c.462T>C (p.Val154=) c.570T>C (p.Val190=) c.141T>C (p.Val47=) c.615T>C (p.Val205=) c.579T>C (p.Val193=) n.840T>C | |
6 | g.24596077A>T | CA448958836 | KIAA0319 | c.597T>A (p.Val199=) c.462T>A (p.Val154=) c.570T>A (p.Val190=) c.141T>A (p.Val47=) c.615T>A (p.Val205=) c.579T>A (p.Val193=) n.840T>A | |
6 | g.24596078A= | CA1616548791 | KIAA0319 | c.596T= (p.Val199=) c.461T= (p.Val154=) c.569T= (p.Val190=) c.140T= (p.Val47=) c.614T= (p.Val205=) c.578T= (p.Val193=) n.839T= | |
6 | g.24596078A>C | CA362971250 | KIAA0319 | c.596T>G (p.Val199Gly) c.461T>G (p.Val154Gly) c.569T>G (p.Val190Gly) c.140T>G (p.Val47Gly) c.614T>G (p.Val205Gly) c.578T>G (p.Val193Gly) n.839T>G | |
6 | g.24596078A>G | CA362971251 | KIAA0319 | c.596T>C (p.Val199Ala) c.461T>C (p.Val154Ala) c.569T>C (p.Val190Ala) c.140T>C (p.Val47Ala) c.614T>C (p.Val205Ala) c.578T>C (p.Val193Ala) n.839T>C | dbSNP gnomAD v4 |
6 | g.24596078A>T | CA362971252 | KIAA0319 | c.596T>A (p.Val199Asp) c.461T>A (p.Val154Asp) c.569T>A (p.Val190Asp) c.140T>A (p.Val47Asp) c.614T>A (p.Val205Asp) c.578T>A (p.Val193Asp) n.839T>A | |
6 | g.24596079C>A | CA362971254 | KIAA0319 | c.595G>T (p.Val199Phe) c.460G>T (p.Val154Phe) c.568G>T (p.Val190Phe) c.139G>T (p.Val47Phe) c.613G>T (p.Val205Phe) c.577G>T (p.Val193Phe) n.838G>T | gnomAD v4 |
6 | g.24596079C>G | CA362971255 | KIAA0319 | c.595G>C (p.Val199Leu) c.460G>C (p.Val154Leu) c.568G>C (p.Val190Leu) c.139G>C (p.Val47Leu) c.613G>C (p.Val205Leu) c.577G>C (p.Val193Leu) n.838G>C | |
6 | g.24596079C>T | CA362971253 | KIAA0319 | c.595G>A (p.Val199Ile) c.460G>A (p.Val154Ile) c.568G>A (p.Val190Ile) c.139G>A (p.Val47Ile) c.613G>A (p.Val205Ile) c.577G>A (p.Val193Ile) n.838G>A | |
6 | g.24596080A= | CA1616548792 | KIAA0319 | c.594T= (p.Ser198=) c.459T= (p.Ser153=) c.567T= (p.Ser189=) c.138T= (p.Ser46=) c.612T= (p.Ser204=) c.576T= (p.Ser192=) n.837T= | |
6 | g.24596080A>C | CA448958838 | KIAA0319 | c.594T>G (p.Ser198=) c.459T>G (p.Ser153=) c.567T>G (p.Ser189=) c.138T>G (p.Ser46=) c.612T>G (p.Ser204=) c.576T>G (p.Ser192=) n.837T>G | |
6 | g.24596080A>G | CA448958839 | KIAA0319 | c.594T>C (p.Ser198=) c.459T>C (p.Ser153=) c.567T>C (p.Ser189=) c.138T>C (p.Ser46=) c.612T>C (p.Ser204=) c.576T>C (p.Ser192=) n.837T>C | dbSNP |
6 | g.24596080A>T | CA448958837 | KIAA0319 | c.594T>A (p.Ser198=) c.459T>A (p.Ser153=) c.567T>A (p.Ser189=) c.138T>A (p.Ser46=) c.612T>A (p.Ser204=) c.576T>A (p.Ser192=) n.837T>A | |
6 | g.24596081G>A | CA362971256 | KIAA0319 | c.593C>T (p.Ser198Phe) c.458C>T (p.Ser153Phe) c.566C>T (p.Ser189Phe) c.137C>T (p.Ser46Phe) c.611C>T (p.Ser204Phe) c.575C>T (p.Ser192Phe) n.836C>T | COSMIC |
6 | g.24596081G>C | CA362971257 | KIAA0319 | c.593C>G (p.Ser198Cys) c.458C>G (p.Ser153Cys) c.566C>G (p.Ser189Cys) c.137C>G (p.Ser46Cys) c.611C>G (p.Ser204Cys) c.575C>G (p.Ser192Cys) n.836C>G | gnomAD v4 |
6 | g.24596081G>T | CA362971258 | KIAA0319 | c.593C>A (p.Ser198Tyr) c.458C>A (p.Ser153Tyr) c.566C>A (p.Ser189Tyr) c.137C>A (p.Ser46Tyr) c.611C>A (p.Ser204Tyr) c.575C>A (p.Ser192Tyr) n.836C>A | |
6 | g.24596082A>C | CA362971259 | KIAA0319 | c.592T>G (p.Ser198Ala) c.457T>G (p.Ser153Ala) c.565T>G (p.Ser189Ala) c.136T>G (p.Ser46Ala) c.610T>G (p.Ser204Ala) c.574T>G (p.Ser192Ala) n.835T>G | |
6 | g.24596082A>G | CA362971260 | KIAA0319 | c.592T>C (p.Ser198Pro) c.457T>C (p.Ser153Pro) c.565T>C (p.Ser189Pro) c.136T>C (p.Ser46Pro) c.610T>C (p.Ser204Pro) c.574T>C (p.Ser192Pro) n.835T>C | |
6 | g.24596082A>T | CA362971261 | KIAA0319 | c.592T>A (p.Ser198Thr) c.457T>A (p.Ser153Thr) c.565T>A (p.Ser189Thr) c.136T>A (p.Ser46Thr) c.610T>A (p.Ser204Thr) c.574T>A (p.Ser192Thr) n.835T>A | |
6 | g.24596083G>A | CA448958840 | KIAA0319 | c.591C>T (p.Ser197=) c.456C>T (p.Ser152=) c.564C>T (p.Ser188=) c.135C>T (p.Ser45=) c.609C>T (p.Ser203=) c.573C>T (p.Ser191=) n.834C>T | COSMIC |
6 | g.24596083G>C | CA448958841 | KIAA0319 | c.591C>G (p.Ser197=) c.456C>G (p.Ser152=) c.564C>G (p.Ser188=) c.135C>G (p.Ser45=) c.609C>G (p.Ser203=) c.573C>G (p.Ser191=) n.834C>G | |
6 | g.24596083G>T | CA448958842 | KIAA0319 | c.591C>A (p.Ser197=) c.456C>A (p.Ser152=) c.564C>A (p.Ser188=) c.135C>A (p.Ser45=) c.609C>A (p.Ser203=) c.573C>A (p.Ser191=) n.834C>A | |
6 | g.24596084G>A | CA362971264 | KIAA0319 | c.590C>T (p.Ser197Phe) c.455C>T (p.Ser152Phe) c.563C>T (p.Ser188Phe) c.134C>T (p.Ser45Phe) c.608C>T (p.Ser203Phe) c.572C>T (p.Ser191Phe) n.833C>T | dbSNP gnomAD v4 COSMIC |
6 | g.24596084G>C | CA362971262 | KIAA0319 | c.590C>G (p.Ser197Cys) c.455C>G (p.Ser152Cys) c.563C>G (p.Ser188Cys) c.134C>G (p.Ser45Cys) c.608C>G (p.Ser203Cys) c.572C>G (p.Ser191Cys) n.833C>G | |
6 | g.24596084G= | CA1616548793 | KIAA0319 | c.590C= (p.Ser197=) c.455C= (p.Ser152=) c.563C= (p.Ser188=) c.134C= (p.Ser45=) c.608C= (p.Ser203=) c.572C= (p.Ser191=) n.833C= | |
6 | g.24596084G>T | CA362971263 | KIAA0319 | c.590C>A (p.Ser197Tyr) c.455C>A (p.Ser152Tyr) c.563C>A (p.Ser188Tyr) c.134C>A (p.Ser45Tyr) c.608C>A (p.Ser203Tyr) c.572C>A (p.Ser191Tyr) n.833C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596085A>C | CA362971265 | KIAA0319 | c.589T>G (p.Ser197Ala) c.454T>G (p.Ser152Ala) c.562T>G (p.Ser188Ala) c.133T>G (p.Ser45Ala) c.607T>G (p.Ser203Ala) c.571T>G (p.Ser191Ala) n.832T>G | |
6 | g.24596085A>G | CA362971266 | KIAA0319 | c.589T>C (p.Ser197Pro) c.454T>C (p.Ser152Pro) c.562T>C (p.Ser188Pro) c.133T>C (p.Ser45Pro) c.607T>C (p.Ser203Pro) c.571T>C (p.Ser191Pro) n.832T>C | |
6 | g.24596085A>T | CA362971267 | KIAA0319 | c.589T>A (p.Ser197Thr) c.454T>A (p.Ser152Thr) c.562T>A (p.Ser188Thr) c.133T>A (p.Ser45Thr) c.607T>A (p.Ser203Thr) c.571T>A (p.Ser191Thr) n.832T>A | |
6 | g.24596086del | CA2677536144 | KIAA0319 | c.588del (p.Ser197ProfsTer22) c.453del (p.Ser152ProfsTer22) c.561del (p.Ser188ProfsTer22) c.132del (p.Ser45ProfsTer22) c.606del (p.Ser203ProfsTer22) c.570del (p.Ser191ProfsTer22) n.831del | gnomAD v4 |
6 | g.24596086G>A | CA448958843 | KIAA0319 | c.588C>T (p.Asn196=) c.453C>T (p.Asn151=) c.561C>T (p.Asn187=) c.132C>T (p.Asn44=) c.606C>T (p.Asn202=) c.570C>T (p.Asn190=) n.831C>T | |
6 | g.24596086G>C | CA362971268 | KIAA0319 | c.588C>G (p.Asn196Lys) c.453C>G (p.Asn151Lys) c.561C>G (p.Asn187Lys) c.132C>G (p.Asn44Lys) c.606C>G (p.Asn202Lys) c.570C>G (p.Asn190Lys) n.831C>G | |
6 | g.24596086G>T | CA362971269 | KIAA0319 | c.588C>A (p.Asn196Lys) c.453C>A (p.Asn151Lys) c.561C>A (p.Asn187Lys) c.132C>A (p.Asn44Lys) c.606C>A (p.Asn202Lys) c.570C>A (p.Asn190Lys) n.831C>A | |
6 | g.24596087T>A | CA362971270 | KIAA0319 | c.587A>T (p.Asn196Ile) c.452A>T (p.Asn151Ile) c.560A>T (p.Asn187Ile) c.131A>T (p.Asn44Ile) c.605A>T (p.Asn202Ile) c.569A>T (p.Asn190Ile) n.830A>T | |
6 | g.24596087T>C | CA3657814 | KIAA0319 | c.587A>G (p.Asn196Ser) c.452A>G (p.Asn151Ser) c.560A>G (p.Asn187Ser) c.131A>G (p.Asn44Ser) c.605A>G (p.Asn202Ser) c.569A>G (p.Asn190Ser) n.830A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.24596087T>G | CA362971271 | KIAA0319 | c.587A>C (p.Asn196Thr) c.452A>C (p.Asn151Thr) c.560A>C (p.Asn187Thr) c.131A>C (p.Asn44Thr) c.605A>C (p.Asn202Thr) c.569A>C (p.Asn190Thr) n.830A>C | |
6 | g.24596087T= | CA1616548794 | KIAA0319 | c.587A= (p.Asn196=) c.452A= (p.Asn151=) c.560A= (p.Asn187=) c.131A= (p.Asn44=) c.605A= (p.Asn202=) c.569A= (p.Asn190=) n.830A= | |
6 | g.24596088T>A | CA362971272 | KIAA0319 | c.586A>T (p.Asn196Tyr) c.451A>T (p.Asn151Tyr) c.559A>T (p.Asn187Tyr) c.130A>T (p.Asn44Tyr) c.604A>T (p.Asn202Tyr) c.568A>T (p.Asn190Tyr) n.829A>T | |
6 | g.24596088T>C | CA362971273 | KIAA0319 | c.586A>G (p.Asn196Asp) c.451A>G (p.Asn151Asp) c.559A>G (p.Asn187Asp) c.130A>G (p.Asn44Asp) c.604A>G (p.Asn202Asp) c.568A>G (p.Asn190Asp) n.829A>G | |
6 | g.24596088T>G | CA362971274 | KIAA0319 | c.586A>C (p.Asn196His) c.451A>C (p.Asn151His) c.559A>C (p.Asn187His) c.130A>C (p.Asn44His) c.604A>C (p.Asn202His) c.568A>C (p.Asn190His) n.829A>C | |
6 | g.24596089G>A | CA448958844 | KIAA0319 | c.585C>T (p.Phe195=) c.450C>T (p.Phe150=) c.558C>T (p.Phe186=) c.129C>T (p.Phe43=) c.603C>T (p.Phe201=) c.567C>T (p.Phe189=) n.828C>T | |
6 | g.24596089G>C | CA362971275 | KIAA0319 | c.585C>G (p.Phe195Leu) c.450C>G (p.Phe150Leu) c.558C>G (p.Phe186Leu) c.129C>G (p.Phe43Leu) c.603C>G (p.Phe201Leu) c.567C>G (p.Phe189Leu) n.828C>G | gnomAD v4 |
6 | g.24596089G>T | CA362971276 | KIAA0319 | c.585C>A (p.Phe195Leu) c.450C>A (p.Phe150Leu) c.558C>A (p.Phe186Leu) c.129C>A (p.Phe43Leu) c.603C>A (p.Phe201Leu) c.567C>A (p.Phe189Leu) n.828C>A | |
6 | g.24596089dup | CA2842204254 | KIAA0319 | c.585dup (p.Asn196GlnfsTer19) c.450dup (p.Asn151GlnfsTer19) c.558dup (p.Asn187GlnfsTer19) c.129dup (p.Asn44GlnfsTer19) c.603dup (p.Asn202GlnfsTer19) c.567dup (p.Asn190GlnfsTer19) n.828dup | |
6 | g.24596090A>C | CA362971277 | KIAA0319 | c.584T>G (p.Phe195Cys) c.449T>G (p.Phe150Cys) c.557T>G (p.Phe186Cys) c.128T>G (p.Phe43Cys) c.602T>G (p.Phe201Cys) c.566T>G (p.Phe189Cys) n.827T>G | |
6 | g.24596090A>G | CA362971278 | KIAA0319 | c.584T>C (p.Phe195Ser) c.449T>C (p.Phe150Ser) c.557T>C (p.Phe186Ser) c.128T>C (p.Phe43Ser) c.602T>C (p.Phe201Ser) c.566T>C (p.Phe189Ser) n.827T>C | |
6 | g.24596090A>T | CA362971279 | KIAA0319 | c.584T>A (p.Phe195Tyr) c.449T>A (p.Phe150Tyr) c.557T>A (p.Phe186Tyr) c.128T>A (p.Phe43Tyr) c.602T>A (p.Phe201Tyr) c.566T>A (p.Phe189Tyr) n.827T>A | |
6 | g.24596091A>C | CA362971280 | KIAA0319 | c.583T>G (p.Phe195Val) c.448T>G (p.Phe150Val) c.556T>G (p.Phe186Val) c.127T>G (p.Phe43Val) c.601T>G (p.Phe201Val) c.565T>G (p.Phe189Val) n.826T>G | |
6 | g.24596091A>G | CA362971281 | KIAA0319 | c.583T>C (p.Phe195Leu) c.448T>C (p.Phe150Leu) c.556T>C (p.Phe186Leu) c.127T>C (p.Phe43Leu) c.601T>C (p.Phe201Leu) c.565T>C (p.Phe189Leu) n.826T>C | COSMIC |
6 | g.24596091A>T | CA362971282 | KIAA0319 | c.583T>A (p.Phe195Ile) c.448T>A (p.Phe150Ile) c.556T>A (p.Phe186Ile) c.127T>A (p.Phe43Ile) c.601T>A (p.Phe201Ile) c.565T>A (p.Phe189Ile) n.826T>A | |
6 | g.24596092G>A | CA448958845 | KIAA0319 | c.582C>T (p.Ala194=) c.447C>T (p.Ala149=) c.555C>T (p.Ala185=) c.126C>T (p.Ala42=) c.600C>T (p.Ala200=) c.564C>T (p.Ala188=) n.825C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596092G>C | CA448958846 | KIAA0319 | c.582C>G (p.Ala194=) c.447C>G (p.Ala149=) c.555C>G (p.Ala185=) c.126C>G (p.Ala42=) c.600C>G (p.Ala200=) c.564C>G (p.Ala188=) n.825C>G | |
6 | g.24596092G= | CA1616548795 | KIAA0319 | c.582C= (p.Ala194=) c.447C= (p.Ala149=) c.555C= (p.Ala185=) c.126C= (p.Ala42=) c.600C= (p.Ala200=) c.564C= (p.Ala188=) n.825C= | |
6 | g.24596092G>T | CA448958847 | KIAA0319 | c.582C>A (p.Ala194=) c.447C>A (p.Ala149=) c.555C>A (p.Ala185=) c.126C>A (p.Ala42=) c.600C>A (p.Ala200=) c.564C>A (p.Ala188=) n.825C>A | |
6 | g.24596093G>A | CA362971285 | KIAA0319 | c.581C>T (p.Ala194Val) c.446C>T (p.Ala149Val) c.554C>T (p.Ala185Val) c.125C>T (p.Ala42Val) c.599C>T (p.Ala200Val) c.563C>T (p.Ala188Val) n.824C>T | gnomAD v4 |
6 | g.24596093G>C | CA362971284 | KIAA0319 | c.581C>G (p.Ala194Gly) c.446C>G (p.Ala149Gly) c.554C>G (p.Ala185Gly) c.125C>G (p.Ala42Gly) c.599C>G (p.Ala200Gly) c.563C>G (p.Ala188Gly) n.824C>G | |
6 | g.24596093G>T | CA362971283 | KIAA0319 | c.581C>A (p.Ala194Asp) c.446C>A (p.Ala149Asp) c.554C>A (p.Ala185Asp) c.125C>A (p.Ala42Asp) c.599C>A (p.Ala200Asp) c.563C>A (p.Ala188Asp) n.824C>A | |
6 | g.24596094C>A | CA362971286 | KIAA0319 | c.580G>T (p.Ala194Ser) c.445G>T (p.Ala149Ser) c.553G>T (p.Ala185Ser) c.124G>T (p.Ala42Ser) c.598G>T (p.Ala200Ser) c.562G>T (p.Ala188Ser) n.823G>T | |
6 | g.24596094C>G | CA362971288 | KIAA0319 | c.580G>C (p.Ala194Pro) c.445G>C (p.Ala149Pro) c.553G>C (p.Ala185Pro) c.124G>C (p.Ala42Pro) c.598G>C (p.Ala200Pro) c.562G>C (p.Ala188Pro) n.823G>C | |
6 | g.24596094C>T | CA362971287 | KIAA0319 | c.580G>A (p.Ala194Thr) c.445G>A (p.Ala149Thr) c.553G>A (p.Ala185Thr) c.124G>A (p.Ala42Thr) c.598G>A (p.Ala200Thr) c.562G>A (p.Ala188Thr) n.823G>A | gnomAD v4 |
6 | g.24596098dup | CA2832540776 | KIAA0319 | c.580dup (p.Ala194GlyfsTer21) c.445dup (p.Ala149GlyfsTer21) c.553dup (p.Ala185GlyfsTer21) c.124dup (p.Ala42GlyfsTer21) c.598dup (p.Ala200GlyfsTer21) c.562dup (p.Ala188GlyfsTer21) n.823dup | |
6 | g.24596095C>A | CA448958848 | KIAA0319 | c.579G>T (p.Gly193=) c.444G>T (p.Gly148=) c.552G>T (p.Gly184=) c.123G>T (p.Gly41=) c.597G>T (p.Gly199=) c.561G>T (p.Gly187=) n.822G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596095C= | CA1616548796 | KIAA0319 | c.579G= (p.Gly193=) c.444G= (p.Gly148=) c.552G= (p.Gly184=) c.123G= (p.Gly41=) c.597G= (p.Gly199=) c.561G= (p.Gly187=) n.822G= | |
6 | g.24596095C>G | CA448958849 | KIAA0319 | c.579G>C (p.Gly193=) c.444G>C (p.Gly148=) c.552G>C (p.Gly184=) c.123G>C (p.Gly41=) c.597G>C (p.Gly199=) c.561G>C (p.Gly187=) n.822G>C | |
6 | g.24596095C>T | CA448958850 | KIAA0319 | c.579G>A (p.Gly193=) c.444G>A (p.Gly148=) c.552G>A (p.Gly184=) c.123G>A (p.Gly41=) c.597G>A (p.Gly199=) c.561G>A (p.Gly187=) n.822G>A | gnomAD v4 |
6 | g.24596096C>A | CA362971289 | KIAA0319 | c.578G>T (p.Gly193Val) c.443G>T (p.Gly148Val) c.551G>T (p.Gly184Val) c.122G>T (p.Gly41Val) c.596G>T (p.Gly199Val) c.560G>T (p.Gly187Val) n.821G>T | |
6 | g.24596096C>G | CA362971290 | KIAA0319 | c.578G>C (p.Gly193Ala) c.443G>C (p.Gly148Ala) c.551G>C (p.Gly184Ala) c.122G>C (p.Gly41Ala) c.596G>C (p.Gly199Ala) c.560G>C (p.Gly187Ala) n.821G>C | |
6 | g.24596096C>T | CA362971291 | KIAA0319 | c.578G>A (p.Gly193Glu) c.443G>A (p.Gly148Glu) c.551G>A (p.Gly184Glu) c.122G>A (p.Gly41Glu) c.596G>A (p.Gly199Glu) c.560G>A (p.Gly187Glu) n.821G>A | |
6 | g.24596097C>A | CA362971292 | KIAA0319 | c.577G>T (p.Gly193Trp) c.442G>T (p.Gly148Trp) c.550G>T (p.Gly184Trp) c.121G>T (p.Gly41Trp) c.595G>T (p.Gly199Trp) c.559G>T (p.Gly187Trp) n.820G>T | |
6 | g.24596097C>G | CA362971293 | KIAA0319 | c.577G>C (p.Gly193Arg) c.442G>C (p.Gly148Arg) c.550G>C (p.Gly184Arg) c.121G>C (p.Gly41Arg) c.595G>C (p.Gly199Arg) c.559G>C (p.Gly187Arg) n.820G>C | |
6 | g.24596097C>T | CA362971294 | KIAA0319 | c.577G>A (p.Gly193Arg) c.442G>A (p.Gly148Arg) c.550G>A (p.Gly184Arg) c.121G>A (p.Gly41Arg) c.595G>A (p.Gly199Arg) c.559G>A (p.Gly187Arg) n.820G>A | COSMIC |
6 | g.24596098C>A | CA362971295 | KIAA0319 | c.576G>T (p.Glu192Asp) c.441G>T (p.Glu147Asp) c.549G>T (p.Glu183Asp) c.120G>T (p.Glu40Asp) c.594G>T (p.Glu198Asp) c.558G>T (p.Glu186Asp) n.819G>T | |
6 | g.24596098C= | CA1616548797 | KIAA0319 | c.576G= (p.Glu192=) c.441G= (p.Glu147=) c.549G= (p.Glu183=) c.120G= (p.Glu40=) c.594G= (p.Glu198=) c.558G= (p.Glu186=) n.819G= | |
6 | g.24596098C>G | CA362971296 | KIAA0319 | c.576G>C (p.Glu192Asp) c.441G>C (p.Glu147Asp) c.549G>C (p.Glu183Asp) c.120G>C (p.Glu40Asp) c.594G>C (p.Glu198Asp) c.558G>C (p.Glu186Asp) n.819G>C | |
6 | g.24596098C>T | CA448958851 | KIAA0319 | c.576G>A (p.Glu192=) c.441G>A (p.Glu147=) c.549G>A (p.Glu183=) c.120G>A (p.Glu40=) c.594G>A (p.Glu198=) c.558G>A (p.Glu186=) n.819G>A | dbSNP gnomAD v4 |
6 | g.24596099T>A | CA362971297 | KIAA0319 | c.575A>T (p.Glu192Val) c.440A>T (p.Glu147Val) c.548A>T (p.Glu183Val) c.119A>T (p.Glu40Val) c.593A>T (p.Glu198Val) c.557A>T (p.Glu186Val) n.818A>T | gnomAD v4 |
6 | g.24596099T>C | CA362971298 | KIAA0319 | c.575A>G (p.Glu192Gly) c.440A>G (p.Glu147Gly) c.548A>G (p.Glu183Gly) c.119A>G (p.Glu40Gly) c.593A>G (p.Glu198Gly) c.557A>G (p.Glu186Gly) n.818A>G | |
6 | g.24596099T>G | CA362971299 | KIAA0319 | c.575A>C (p.Glu192Ala) c.440A>C (p.Glu147Ala) c.548A>C (p.Glu183Ala) c.119A>C (p.Glu40Ala) c.593A>C (p.Glu198Ala) c.557A>C (p.Glu186Ala) n.818A>C | |
6 | g.24596100C>A | CA362971301 | KIAA0319 | c.574G>T (p.Glu192Ter) c.439G>T (p.Glu147Ter) c.547G>T (p.Glu183Ter) c.118G>T (p.Glu40Ter) c.592G>T (p.Glu198Ter) c.556G>T (p.Glu186Ter) n.817G>T | |
6 | g.24596100C= | CA1616548798 | KIAA0319 | c.574G= (p.Glu192=) c.439G= (p.Glu147=) c.547G= (p.Glu183=) c.118G= (p.Glu40=) c.592G= (p.Glu198=) c.556G= (p.Glu186=) n.817G= | |
6 | g.24596100C>G | CA362971300 | KIAA0319 | c.574G>C (p.Glu192Gln) c.439G>C (p.Glu147Gln) c.547G>C (p.Glu183Gln) c.118G>C (p.Glu40Gln) c.592G>C (p.Glu198Gln) c.556G>C (p.Glu186Gln) n.817G>C | |
6 | g.24596100C>T | CA3657815 | KIAA0319 | c.574G>A (p.Glu192Lys) c.439G>A (p.Glu147Lys) c.547G>A (p.Glu183Lys) c.118G>A (p.Glu40Lys) c.592G>A (p.Glu198Lys) c.556G>A (p.Glu186Lys) n.817G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596101G>A | CA3657816 | KIAA0319 | c.573C>T (p.Ser191=) c.438C>T (p.Ser146=) c.546C>T (p.Ser182=) c.117C>T (p.Ser39=) c.591C>T (p.Ser197=) c.555C>T (p.Ser185=) n.816C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596101G>C | CA362971302 | KIAA0319 | c.573C>G (p.Ser191Arg) c.438C>G (p.Ser146Arg) c.546C>G (p.Ser182Arg) c.117C>G (p.Ser39Arg) c.591C>G (p.Ser197Arg) c.555C>G (p.Ser185Arg) n.816C>G | |
6 | g.24596101G= | CA1616548799 | KIAA0319 | c.573C= (p.Ser191=) c.438C= (p.Ser146=) c.546C= (p.Ser182=) c.117C= (p.Ser39=) c.591C= (p.Ser197=) c.555C= (p.Ser185=) n.816C= | |
6 | g.24596101G>T | CA362971303 | KIAA0319 | c.573C>A (p.Ser191Arg) c.438C>A (p.Ser146Arg) c.546C>A (p.Ser182Arg) c.117C>A (p.Ser39Arg) c.591C>A (p.Ser197Arg) c.555C>A (p.Ser185Arg) n.816C>A | |
6 | g.24596102C>A | CA362971304 | KIAA0319 | c.572G>T (p.Ser191Ile) c.437G>T (p.Ser146Ile) c.545G>T (p.Ser182Ile) c.116G>T (p.Ser39Ile) c.590G>T (p.Ser197Ile) c.554G>T (p.Ser185Ile) n.815G>T | |
6 | g.24596102C>G | CA362971305 | KIAA0319 | c.572G>C (p.Ser191Thr) c.437G>C (p.Ser146Thr) c.545G>C (p.Ser182Thr) c.116G>C (p.Ser39Thr) c.590G>C (p.Ser197Thr) c.554G>C (p.Ser185Thr) n.815G>C | |
6 | g.24596102C>T | CA362971306 | KIAA0319 | c.572G>A (p.Ser191Asn) c.437G>A (p.Ser146Asn) c.545G>A (p.Ser182Asn) c.116G>A (p.Ser39Asn) c.590G>A (p.Ser197Asn) c.554G>A (p.Ser185Asn) n.815G>A | |
6 | g.24596103T>A | CA362971307 | KIAA0319 | c.571A>T (p.Ser191Cys) c.436A>T (p.Ser146Cys) c.544A>T (p.Ser182Cys) c.115A>T (p.Ser39Cys) c.589A>T (p.Ser197Cys) c.553A>T (p.Ser185Cys) n.814A>T | |
6 | g.24596103T>C | CA362971308 | KIAA0319 | c.571A>G (p.Ser191Gly) c.436A>G (p.Ser146Gly) c.544A>G (p.Ser182Gly) c.115A>G (p.Ser39Gly) c.589A>G (p.Ser197Gly) c.553A>G (p.Ser185Gly) n.814A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596103T>G | CA362971309 | KIAA0319 | c.571A>C (p.Ser191Arg) c.436A>C (p.Ser146Arg) c.544A>C (p.Ser182Arg) c.115A>C (p.Ser39Arg) c.589A>C (p.Ser197Arg) c.553A>C (p.Ser185Arg) n.814A>C | |
6 | g.24596103T= | CA1616548800 | KIAA0319 | c.571A= (p.Ser191=) c.436A= (p.Ser146=) c.544A= (p.Ser182=) c.115A= (p.Ser39=) c.589A= (p.Ser197=) c.553A= (p.Ser185=) n.814A= | |
6 | g.24596104G>A | CA448958852 | KIAA0319 | c.570C>T (p.Gly190=) c.435C>T (p.Gly145=) c.543C>T (p.Gly181=) c.114C>T (p.Gly38=) c.588C>T (p.Gly196=) c.552C>T (p.Gly184=) n.813C>T | dbSNP gnomAD v4 |
6 | g.24596104G>C | CA448958853 | KIAA0319 | c.570C>G (p.Gly190=) c.435C>G (p.Gly145=) c.543C>G (p.Gly181=) c.114C>G (p.Gly38=) c.588C>G (p.Gly196=) c.552C>G (p.Gly184=) n.813C>G | |
6 | g.24596104G= | CA1616548801 | KIAA0319 | c.570C= (p.Gly190=) c.435C= (p.Gly145=) c.543C= (p.Gly181=) c.114C= (p.Gly38=) c.588C= (p.Gly196=) c.552C= (p.Gly184=) n.813C= | |
6 | g.24596104G>T | CA448958854 | KIAA0319 | c.570C>A (p.Gly190=) c.435C>A (p.Gly145=) c.543C>A (p.Gly181=) c.114C>A (p.Gly38=) c.588C>A (p.Gly196=) c.552C>A (p.Gly184=) n.813C>A | |
6 | g.24596105C>A | CA362971310 | KIAA0319 | c.569G>T (p.Gly190Val) c.434G>T (p.Gly145Val) c.542G>T (p.Gly181Val) c.113G>T (p.Gly38Val) c.587G>T (p.Gly196Val) c.551G>T (p.Gly184Val) n.812G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596105C= | CA1616548802 | KIAA0319 | c.569G= (p.Gly190=) c.434G= (p.Gly145=) c.542G= (p.Gly181=) c.113G= (p.Gly38=) c.587G= (p.Gly196=) c.551G= (p.Gly184=) n.812G= | |
6 | g.24596105C>G | CA362971311 | KIAA0319 | c.569G>C (p.Gly190Ala) c.434G>C (p.Gly145Ala) c.542G>C (p.Gly181Ala) c.113G>C (p.Gly38Ala) c.587G>C (p.Gly196Ala) c.551G>C (p.Gly184Ala) n.812G>C | gnomAD v4 |
6 | g.24596105C>T | CA362971312 | KIAA0319 | c.569G>A (p.Gly190Asp) c.434G>A (p.Gly145Asp) c.542G>A (p.Gly181Asp) c.113G>A (p.Gly38Asp) c.587G>A (p.Gly196Asp) c.551G>A (p.Gly184Asp) n.812G>A | |
6 | g.24596105_24596106insACTGCTTA | CA2677536174 | KIAA0319 | c.568_569insTAAGCAGT (p.Gly190ValfsTer32) c.433_434insTAAGCAGT (p.Gly145ValfsTer32) c.541_542insTAAGCAGT (p.Gly181ValfsTer32) c.112_113insTAAGCAGT (p.Gly38ValfsTer32) c.586_587insTAAGCAGT (p.Gly196ValfsTer32) c.550_551insTAAGCAGT (p.Gly184ValfsTer32) n.811_812insTAAGCAGT | gnomAD v4 |
6 | g.24596106C>A | CA3657817 | KIAA0319 | c.568G>T (p.Gly190Cys) c.433G>T (p.Gly145Cys) c.541G>T (p.Gly181Cys) c.112G>T (p.Gly38Cys) c.586G>T (p.Gly196Cys) c.550G>T (p.Gly184Cys) n.811G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596106C= | CA1616548803 | KIAA0319 | c.568G= (p.Gly190=) c.433G= (p.Gly145=) c.541G= (p.Gly181=) c.112G= (p.Gly38=) c.586G= (p.Gly196=) c.550G= (p.Gly184=) n.811G= | |
6 | g.24596106C>G | CA362971314 | KIAA0319 | c.568G>C (p.Gly190Arg) c.433G>C (p.Gly145Arg) c.541G>C (p.Gly181Arg) c.112G>C (p.Gly38Arg) c.586G>C (p.Gly196Arg) c.550G>C (p.Gly184Arg) n.811G>C | |
6 | g.24596106C>T | CA362971313 | KIAA0319 | c.568G>A (p.Gly190Ser) c.433G>A (p.Gly145Ser) c.541G>A (p.Gly181Ser) c.112G>A (p.Gly38Ser) c.586G>A (p.Gly196Ser) c.550G>A (p.Gly184Ser) n.811G>A | |
6 | g.24596107C>A | CA448958855 | KIAA0319 | c.567G>T (p.Pro189=) c.432G>T (p.Pro144=) c.540G>T (p.Pro180=) c.111G>T (p.Pro37=) c.585G>T (p.Pro195=) c.549G>T (p.Pro183=) n.810G>T | gnomAD v4 |
6 | g.24596107C= | CA1616548804 | KIAA0319 | c.567G= (p.Pro189=) c.432G= (p.Pro144=) c.540G= (p.Pro180=) c.111G= (p.Pro37=) c.585G= (p.Pro195=) c.549G= (p.Pro183=) n.810G= | |
6 | g.24596107C>G | CA448958856 | KIAA0319 | c.567G>C (p.Pro189=) c.432G>C (p.Pro144=) c.540G>C (p.Pro180=) c.111G>C (p.Pro37=) c.585G>C (p.Pro195=) c.549G>C (p.Pro183=) n.810G>C | gnomAD v4 |
6 | g.24596107C>T | CA3657818 | KIAA0319 | c.567G>A (p.Pro189=) c.432G>A (p.Pro144=) c.540G>A (p.Pro180=) c.111G>A (p.Pro37=) c.585G>A (p.Pro195=) c.549G>A (p.Pro183=) n.810G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.24596108G>A | CA3657819 | KIAA0319 | c.566C>T (p.Pro189Leu) c.431C>T (p.Pro144Leu) c.539C>T (p.Pro180Leu) c.110C>T (p.Pro37Leu) c.584C>T (p.Pro195Leu) c.548C>T (p.Pro183Leu) n.809C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596108G>C | CA362971315 | KIAA0319 | c.566C>G (p.Pro189Arg) c.431C>G (p.Pro144Arg) c.539C>G (p.Pro180Arg) c.110C>G (p.Pro37Arg) c.584C>G (p.Pro195Arg) c.548C>G (p.Pro183Arg) n.809C>G | gnomAD v4 |
6 | g.24596108G= | CA1616548805 | KIAA0319 | c.566C= (p.Pro189=) c.431C= (p.Pro144=) c.539C= (p.Pro180=) c.110C= (p.Pro37=) c.584C= (p.Pro195=) c.548C= (p.Pro183=) n.809C= | |
6 | g.24596108G>T | CA362971316 | KIAA0319 | c.566C>A (p.Pro189Gln) c.431C>A (p.Pro144Gln) c.539C>A (p.Pro180Gln) c.110C>A (p.Pro37Gln) c.584C>A (p.Pro195Gln) c.548C>A (p.Pro183Gln) n.809C>A | gnomAD v4 |
6 | g.24596109G>A | CA136131384 | KIAA0319 | c.565C>T (p.Pro189Ser) c.430C>T (p.Pro144Ser) c.538C>T (p.Pro180Ser) c.109C>T (p.Pro37Ser) c.583C>T (p.Pro195Ser) c.547C>T (p.Pro183Ser) n.808C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596109G>C | CA362971317 | KIAA0319 | c.565C>G (p.Pro189Ala) c.430C>G (p.Pro144Ala) c.538C>G (p.Pro180Ala) c.109C>G (p.Pro37Ala) c.583C>G (p.Pro195Ala) c.547C>G (p.Pro183Ala) n.808C>G | gnomAD v4 |
6 | g.24596109G= | CA1616548806 | KIAA0319 | c.565C= (p.Pro189=) c.430C= (p.Pro144=) c.538C= (p.Pro180=) c.109C= (p.Pro37=) c.583C= (p.Pro195=) c.547C= (p.Pro183=) n.808C= | |
6 | g.24596109G>T | CA362971318 | KIAA0319 | c.565C>A (p.Pro189Thr) c.430C>A (p.Pro144Thr) c.538C>A (p.Pro180Thr) c.109C>A (p.Pro37Thr) c.583C>A (p.Pro195Thr) c.547C>A (p.Pro183Thr) n.808C>A | |
6 | g.24596110C>A | CA448958857 | KIAA0319 | c.564G>T (p.Leu188=) c.429G>T (p.Leu143=) c.537G>T (p.Leu179=) c.108G>T (p.Leu36=) c.582G>T (p.Leu194=) c.546G>T (p.Leu182=) n.807G>T | dbSNP gnomAD v4 |
6 | g.24596110C= | CA1616548807 | KIAA0319 | c.564G= (p.Leu188=) c.429G= (p.Leu143=) c.537G= (p.Leu179=) c.108G= (p.Leu36=) c.582G= (p.Leu194=) c.546G= (p.Leu182=) n.807G= | |
6 | g.24596110C>G | CA448958858 | KIAA0319 | c.564G>C (p.Leu188=) c.429G>C (p.Leu143=) c.537G>C (p.Leu179=) c.108G>C (p.Leu36=) c.582G>C (p.Leu194=) c.546G>C (p.Leu182=) n.807G>C | gnomAD v4 |
6 | g.24596110C>T | CA448958859 | KIAA0319 | c.564G>A (p.Leu188=) c.429G>A (p.Leu143=) c.537G>A (p.Leu179=) c.108G>A (p.Leu36=) c.582G>A (p.Leu194=) c.546G>A (p.Leu182=) n.807G>A | |
6 | g.24596111A>C | CA362971319 | KIAA0319 | c.563T>G (p.Leu188Arg) c.428T>G (p.Leu143Arg) c.536T>G (p.Leu179Arg) c.107T>G (p.Leu36Arg) c.581T>G (p.Leu194Arg) c.545T>G (p.Leu182Arg) n.806T>G | |
6 | g.24596111A>G | CA362971321 | KIAA0319 | c.563T>C (p.Leu188Pro) c.428T>C (p.Leu143Pro) c.536T>C (p.Leu179Pro) c.107T>C (p.Leu36Pro) c.581T>C (p.Leu194Pro) c.545T>C (p.Leu182Pro) n.806T>C | |
6 | g.24596111A>T | CA362971320 | KIAA0319 | c.563T>A (p.Leu188Gln) c.428T>A (p.Leu143Gln) c.536T>A (p.Leu179Gln) c.107T>A (p.Leu36Gln) c.581T>A (p.Leu194Gln) c.545T>A (p.Leu182Gln) n.806T>A | |
6 | g.24596112G>A | CA3657820 | KIAA0319 | c.562C>T (p.Leu188=) c.427C>T (p.Leu143=) c.535C>T (p.Leu179=) c.106C>T (p.Leu36=) c.580C>T (p.Leu194=) c.544C>T (p.Leu182=) n.805C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596112G>C | CA362971322 | KIAA0319 | c.562C>G (p.Leu188Val) c.427C>G (p.Leu143Val) c.535C>G (p.Leu179Val) c.106C>G (p.Leu36Val) c.580C>G (p.Leu194Val) c.544C>G (p.Leu182Val) n.805C>G | |
6 | g.24596112G= | CA1616548808 | KIAA0319 | c.562C= (p.Leu188=) c.427C= (p.Leu143=) c.535C= (p.Leu179=) c.106C= (p.Leu36=) c.580C= (p.Leu194=) c.544C= (p.Leu182=) n.805C= | |
6 | g.24596112G>T | CA362971323 | KIAA0319 | c.562C>A (p.Leu188Met) c.427C>A (p.Leu143Met) c.535C>A (p.Leu179Met) c.106C>A (p.Leu36Met) c.580C>A (p.Leu194Met) c.544C>A (p.Leu182Met) n.805C>A | |
6 | g.24596113T>A | CA3657821 | KIAA0319 | c.561A>T (p.Leu187=) c.426A>T (p.Leu142=) c.534A>T (p.Leu178=) c.105A>T (p.Leu35=) c.579A>T (p.Leu193=) c.543A>T (p.Leu181=) n.804A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596113T>C | CA448958861 | KIAA0319 | c.561A>G (p.Leu187=) c.426A>G (p.Leu142=) c.534A>G (p.Leu178=) c.105A>G (p.Leu35=) c.579A>G (p.Leu193=) c.543A>G (p.Leu181=) n.804A>G | |
6 | g.24596113T>G | CA448958860 | KIAA0319 | c.561A>C (p.Leu187=) c.426A>C (p.Leu142=) c.534A>C (p.Leu178=) c.105A>C (p.Leu35=) c.579A>C (p.Leu193=) c.543A>C (p.Leu181=) n.804A>C | |
6 | g.24596113T= | CA1616548809 | KIAA0319 | c.561A= (p.Leu187=) c.426A= (p.Leu142=) c.534A= (p.Leu178=) c.105A= (p.Leu35=) c.579A= (p.Leu193=) c.543A= (p.Leu181=) n.804A= | |
6 | g.24596114A= | CA1616548810 | KIAA0319 | c.560T= (p.Leu187=) c.425T= (p.Leu142=) c.533T= (p.Leu178=) c.104T= (p.Leu35=) c.578T= (p.Leu193=) c.542T= (p.Leu181=) n.803T= | |
6 | g.24596114A>C | CA362971324 | KIAA0319 | c.560T>G (p.Leu187Arg) c.425T>G (p.Leu142Arg) c.533T>G (p.Leu178Arg) c.104T>G (p.Leu35Arg) c.578T>G (p.Leu193Arg) c.542T>G (p.Leu181Arg) n.803T>G | |
6 | g.24596114A>G | CA3657822 | KIAA0319 | c.560T>C (p.Leu187Pro) c.425T>C (p.Leu142Pro) c.533T>C (p.Leu178Pro) c.104T>C (p.Leu35Pro) c.578T>C (p.Leu193Pro) c.542T>C (p.Leu181Pro) n.803T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596114A>T | CA362971325 | KIAA0319 | c.560T>A (p.Leu187Gln) c.425T>A (p.Leu142Gln) c.533T>A (p.Leu178Gln) c.104T>A (p.Leu35Gln) c.578T>A (p.Leu193Gln) c.542T>A (p.Leu181Gln) n.803T>A | |
6 | g.24596115G>A | CA448958862 | KIAA0319 | c.559C>T (p.Leu187=) c.424C>T (p.Leu142=) c.532C>T (p.Leu178=) c.103C>T (p.Leu35=) c.577C>T (p.Leu193=) c.541C>T (p.Leu181=) n.802C>T | gnomAD v4 |
6 | g.24596115G>C | CA362971326 | KIAA0319 | c.559C>G (p.Leu187Val) c.424C>G (p.Leu142Val) c.532C>G (p.Leu178Val) c.103C>G (p.Leu35Val) c.577C>G (p.Leu193Val) c.541C>G (p.Leu181Val) n.802C>G | |
6 | g.24596115G>T | CA362971327 | KIAA0319 | c.559C>A (p.Leu187Ile) c.424C>A (p.Leu142Ile) c.532C>A (p.Leu178Ile) c.103C>A (p.Leu35Ile) c.577C>A (p.Leu193Ile) c.541C>A (p.Leu181Ile) n.802C>A | |
6 | g.24596116G>A | CA448958865 | KIAA0319 | c.558C>T (p.Gly186=) c.423C>T (p.Gly141=) c.531C>T (p.Gly177=) c.102C>T (p.Gly34=) c.576C>T (p.Gly192=) c.540C>T (p.Gly180=) n.801C>T | dbSNP |
6 | g.24596116G>C | CA448958864 | KIAA0319 | c.558C>G (p.Gly186=) c.423C>G (p.Gly141=) c.531C>G (p.Gly177=) c.102C>G (p.Gly34=) c.576C>G (p.Gly192=) c.540C>G (p.Gly180=) n.801C>G | |
6 | g.24596116G= | CA1616548811 | KIAA0319 | c.558C= (p.Gly186=) c.423C= (p.Gly141=) c.531C= (p.Gly177=) c.102C= (p.Gly34=) c.576C= (p.Gly192=) c.540C= (p.Gly180=) n.801C= | |
6 | g.24596116G>T | CA448958863 | KIAA0319 | c.558C>A (p.Gly186=) c.423C>A (p.Gly141=) c.531C>A (p.Gly177=) c.102C>A (p.Gly34=) c.576C>A (p.Gly192=) c.540C>A (p.Gly180=) n.801C>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596117C>A | CA362971328 | KIAA0319 | c.557G>T (p.Gly186Val) c.422G>T (p.Gly141Val) c.530G>T (p.Gly177Val) c.101G>T (p.Gly34Val) c.575G>T (p.Gly192Val) c.539G>T (p.Gly180Val) n.800G>T | |
6 | g.24596117C>G | CA362971329 | KIAA0319 | c.557G>C (p.Gly186Ala) c.422G>C (p.Gly141Ala) c.530G>C (p.Gly177Ala) c.101G>C (p.Gly34Ala) c.575G>C (p.Gly192Ala) c.539G>C (p.Gly180Ala) n.800G>C | |
6 | g.24596117C>T | CA362971330 | KIAA0319 | c.557G>A (p.Gly186Asp) c.422G>A (p.Gly141Asp) c.530G>A (p.Gly177Asp) c.101G>A (p.Gly34Asp) c.575G>A (p.Gly192Asp) c.539G>A (p.Gly180Asp) n.800G>A | gnomAD v4 |
6 | g.24596120dup | CA2838257914 | KIAA0319 | c.557dup (p.Leu187ProfsTer28) c.422dup (p.Leu142ProfsTer28) c.530dup (p.Leu178ProfsTer28) c.101dup (p.Leu35ProfsTer28) c.575dup (p.Leu193ProfsTer28) c.539dup (p.Leu181ProfsTer28) n.800dup | |
6 | g.24596118C>A | CA362971331 | KIAA0319 | c.556G>T (p.Gly186Cys) c.421G>T (p.Gly141Cys) c.529G>T (p.Gly177Cys) c.100G>T (p.Gly34Cys) c.574G>T (p.Gly192Cys) c.538G>T (p.Gly180Cys) n.799G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596118C= | CA1616548812 | KIAA0319 | c.556G= (p.Gly186=) c.421G= (p.Gly141=) c.529G= (p.Gly177=) c.100G= (p.Gly34=) c.574G= (p.Gly192=) c.538G= (p.Gly180=) n.799G= | |
6 | g.24596118C>G | CA362971332 | KIAA0319 | c.556G>C (p.Gly186Arg) c.421G>C (p.Gly141Arg) c.529G>C (p.Gly177Arg) c.100G>C (p.Gly34Arg) c.574G>C (p.Gly192Arg) c.538G>C (p.Gly180Arg) n.799G>C | |
6 | g.24596118C>T | CA362971333 | KIAA0319 | c.556G>A (p.Gly186Ser) c.421G>A (p.Gly141Ser) c.529G>A (p.Gly177Ser) c.100G>A (p.Gly34Ser) c.574G>A (p.Gly192Ser) c.538G>A (p.Gly180Ser) n.799G>A | COSMIC |
6 | g.24596119C>A | CA362971334 | KIAA0319 | c.555G>T (p.Trp185Cys) c.420G>T (p.Trp140Cys) c.528G>T (p.Trp176Cys) c.99G>T (p.Trp33Cys) c.573G>T (p.Trp191Cys) c.537G>T (p.Trp179Cys) n.798G>T | gnomAD v4 |
6 | g.24596119C>G | CA362971335 | KIAA0319 | c.555G>C (p.Trp185Cys) c.420G>C (p.Trp140Cys) c.528G>C (p.Trp176Cys) c.99G>C (p.Trp33Cys) c.573G>C (p.Trp191Cys) c.537G>C (p.Trp179Cys) n.798G>C | |
6 | g.24596119C>T | CA362971336 | KIAA0319 | c.555G>A (p.Trp185Ter) c.420G>A (p.Trp140Ter) c.528G>A (p.Trp176Ter) c.99G>A (p.Trp33Ter) c.573G>A (p.Trp191Ter) c.537G>A (p.Trp179Ter) n.798G>A | gnomAD v4 |
6 | g.24596120C>A | CA362971338 | KIAA0319 | c.554G>T (p.Trp185Leu) c.419G>T (p.Trp140Leu) c.527G>T (p.Trp176Leu) c.98G>T (p.Trp33Leu) c.572G>T (p.Trp191Leu) c.536G>T (p.Trp179Leu) n.797G>T | gnomAD v4 |
6 | g.24596120C>G | CA362971339 | KIAA0319 | c.554G>C (p.Trp185Ser) c.419G>C (p.Trp140Ser) c.527G>C (p.Trp176Ser) c.98G>C (p.Trp33Ser) c.572G>C (p.Trp191Ser) c.536G>C (p.Trp179Ser) n.797G>C | |
6 | g.24596120C>T | CA362971337 | KIAA0319 | c.554G>A (p.Trp185Ter) c.419G>A (p.Trp140Ter) c.527G>A (p.Trp176Ter) c.98G>A (p.Trp33Ter) c.572G>A (p.Trp191Ter) c.536G>A (p.Trp179Ter) n.797G>A | |
6 | g.24596121A>C | CA362971340 | KIAA0319 | c.553T>G (p.Trp185Gly) c.418T>G (p.Trp140Gly) c.526T>G (p.Trp176Gly) c.97T>G (p.Trp33Gly) c.571T>G (p.Trp191Gly) c.535T>G (p.Trp179Gly) n.796T>G | dbSNP |
6 | g.24596121A>G | CA362971342 | KIAA0319 | c.553T>C (p.Trp185Arg) c.418T>C (p.Trp140Arg) c.526T>C (p.Trp176Arg) c.97T>C (p.Trp33Arg) c.571T>C (p.Trp191Arg) c.535T>C (p.Trp179Arg) n.796T>C | |
6 | g.24596121A>T | CA362971341 | KIAA0319 | c.553T>A (p.Trp185Arg) c.418T>A (p.Trp140Arg) c.526T>A (p.Trp176Arg) c.97T>A (p.Trp33Arg) c.571T>A (p.Trp191Arg) c.535T>A (p.Trp179Arg) n.796T>A | |
6 | g.24596122G>A | CA448958866 | KIAA0319 | c.552C>T (p.Asp184=) c.417C>T (p.Asp139=) c.525C>T (p.Asp175=) c.96C>T (p.Asp32=) c.570C>T (p.Asp190=) c.534C>T (p.Asp178=) n.795C>T | |
6 | g.24596122G>C | CA362971343 | KIAA0319 | c.552C>G (p.Asp184Glu) c.417C>G (p.Asp139Glu) c.525C>G (p.Asp175Glu) c.96C>G (p.Asp32Glu) c.570C>G (p.Asp190Glu) c.534C>G (p.Asp178Glu) n.795C>G | |
6 | g.24596122G>T | CA362971344 | KIAA0319 | c.552C>A (p.Asp184Glu) c.417C>A (p.Asp139Glu) c.525C>A (p.Asp175Glu) c.96C>A (p.Asp32Glu) c.570C>A (p.Asp190Glu) c.534C>A (p.Asp178Glu) n.795C>A | |
6 | g.24596123T>A | CA362971345 | KIAA0319 | c.551A>T (p.Asp184Val) c.416A>T (p.Asp139Val) c.524A>T (p.Asp175Val) c.95A>T (p.Asp32Val) c.569A>T (p.Asp190Val) c.533A>T (p.Asp178Val) n.794A>T | |
6 | g.24596123T>C | CA362971346 | KIAA0319 | c.551A>G (p.Asp184Gly) c.416A>G (p.Asp139Gly) c.524A>G (p.Asp175Gly) c.95A>G (p.Asp32Gly) c.569A>G (p.Asp190Gly) c.533A>G (p.Asp178Gly) n.794A>G | |
6 | g.24596123T>G | CA362971347 | KIAA0319 | c.551A>C (p.Asp184Ala) c.416A>C (p.Asp139Ala) c.524A>C (p.Asp175Ala) c.95A>C (p.Asp32Ala) c.569A>C (p.Asp190Ala) c.533A>C (p.Asp178Ala) n.794A>C | |
6 | g.24596124C>A | CA362971348 | KIAA0319 | c.550G>T (p.Asp184Tyr) c.415G>T (p.Asp139Tyr) c.523G>T (p.Asp175Tyr) c.94G>T (p.Asp32Tyr) c.568G>T (p.Asp190Tyr) c.532G>T (p.Asp178Tyr) n.793G>T | |
6 | g.24596124C>G | CA362971349 | KIAA0319 | c.550G>C (p.Asp184His) c.415G>C (p.Asp139His) c.523G>C (p.Asp175His) c.94G>C (p.Asp32His) c.568G>C (p.Asp190His) c.532G>C (p.Asp178His) n.793G>C | |
6 | g.24596124C>T | CA362971350 | KIAA0319 | c.550G>A (p.Asp184Asn) c.415G>A (p.Asp139Asn) c.523G>A (p.Asp175Asn) c.94G>A (p.Asp32Asn) c.568G>A (p.Asp190Asn) c.532G>A (p.Asp178Asn) n.793G>A | |
6 | g.24596124_24596125delinsTT | CA645549449 | KIAA0319 | c.549_550delinsAA (p.Asp184Asn) c.414_415delinsAA (p.Asp139Asn) c.522_523delinsAA (p.Asp175Asn) c.93_94delinsAA (p.Asp32Asn) c.567_568delinsAA (p.Asp190Asn) c.531_532delinsAA (p.Asp178Asn) n.792_793delinsAA | COSMIC |
6 | g.24596125C>A | CA448958867 | KIAA0319 | c.549G>T (p.Thr183=) c.414G>T (p.Thr138=) c.522G>T (p.Thr174=) c.93G>T (p.Thr31=) c.567G>T (p.Thr189=) c.531G>T (p.Thr177=) n.792G>T | gnomAD v4 |
6 | g.24596125C>G | CA448958868 | KIAA0319 | c.549G>C (p.Thr183=) c.414G>C (p.Thr138=) c.522G>C (p.Thr174=) c.93G>C (p.Thr31=) c.567G>C (p.Thr189=) c.531G>C (p.Thr177=) n.792G>C | |
6 | g.24596125C>T | CA448958869 | KIAA0319 | c.549G>A (p.Thr183=) c.414G>A (p.Thr138=) c.522G>A (p.Thr174=) c.93G>A (p.Thr31=) c.567G>A (p.Thr189=) c.531G>A (p.Thr177=) n.792G>A | dbSNP gnomAD v4 COSMIC |
6 | g.24596126G>A | CA3657823 | KIAA0319 | c.548C>T (p.Thr183Met) c.413C>T (p.Thr138Met) c.521C>T (p.Thr174Met) c.92C>T (p.Thr31Met) c.566C>T (p.Thr189Met) c.530C>T (p.Thr177Met) n.791C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596126G>C | CA136131418 | KIAA0319 | c.548C>G (p.Thr183Arg) c.413C>G (p.Thr138Arg) c.521C>G (p.Thr174Arg) c.92C>G (p.Thr31Arg) c.566C>G (p.Thr189Arg) c.530C>G (p.Thr177Arg) n.791C>G | dbSNP |
6 | g.24596126G= | CA1616548813 | KIAA0319 | c.548C= (p.Thr183=) c.413C= (p.Thr138=) c.521C= (p.Thr174=) c.92C= (p.Thr31=) c.566C= (p.Thr189=) c.530C= (p.Thr177=) n.791C= | |
6 | g.24596126G>T | CA3657824 | KIAA0319 | c.548C>A (p.Thr183Lys) c.413C>A (p.Thr138Lys) c.521C>A (p.Thr174Lys) c.92C>A (p.Thr31Lys) c.566C>A (p.Thr189Lys) c.530C>A (p.Thr177Lys) n.791C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596127T>A | CA362971351 | KIAA0319 | c.547A>T (p.Thr183Ser) c.412A>T (p.Thr138Ser) c.520A>T (p.Thr174Ser) c.91A>T (p.Thr31Ser) c.565A>T (p.Thr189Ser) c.529A>T (p.Thr177Ser) n.790A>T | |
6 | g.24596127T>C | CA362971352 | KIAA0319 | c.547A>G (p.Thr183Ala) c.412A>G (p.Thr138Ala) c.520A>G (p.Thr174Ala) c.91A>G (p.Thr31Ala) c.565A>G (p.Thr189Ala) c.529A>G (p.Thr177Ala) n.790A>G | |
6 | g.24596127T>G | CA362971353 | KIAA0319 | c.547A>C (p.Thr183Pro) c.412A>C (p.Thr138Pro) c.520A>C (p.Thr174Pro) c.91A>C (p.Thr31Pro) c.565A>C (p.Thr189Pro) c.529A>C (p.Thr177Pro) n.790A>C | |
6 | g.24596128G>A | CA448958870 | KIAA0319 | c.546C>T (p.Tyr182=) c.411C>T (p.Tyr137=) c.519C>T (p.Tyr173=) c.90C>T (p.Tyr30=) c.564C>T (p.Tyr188=) c.528C>T (p.Tyr176=) n.789C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596128G>C | CA362971354 | KIAA0319 | c.546C>G (p.Tyr182Ter) c.411C>G (p.Tyr137Ter) c.519C>G (p.Tyr173Ter) c.90C>G (p.Tyr30Ter) c.564C>G (p.Tyr188Ter) c.528C>G (p.Tyr176Ter) n.789C>G | |
6 | g.24596128G= | CA1616548814 | KIAA0319 | c.546C= (p.Tyr182=) c.411C= (p.Tyr137=) c.519C= (p.Tyr173=) c.90C= (p.Tyr30=) c.564C= (p.Tyr188=) c.528C= (p.Tyr176=) n.789C= | |
6 | g.24596128G>T | CA362971355 | KIAA0319 | c.546C>A (p.Tyr182Ter) c.411C>A (p.Tyr137Ter) c.519C>A (p.Tyr173Ter) c.90C>A (p.Tyr30Ter) c.564C>A (p.Tyr188Ter) c.528C>A (p.Tyr176Ter) n.789C>A | COSMIC |
6 | g.24596129T>A | CA362971356 | KIAA0319 | c.545A>T (p.Tyr182Phe) c.410A>T (p.Tyr137Phe) c.518A>T (p.Tyr173Phe) c.89A>T (p.Tyr30Phe) c.563A>T (p.Tyr188Phe) c.527A>T (p.Tyr176Phe) n.788A>T | |
6 | g.24596129T>C | CA362971358 | KIAA0319 | c.545A>G (p.Tyr182Cys) c.410A>G (p.Tyr137Cys) c.518A>G (p.Tyr173Cys) c.89A>G (p.Tyr30Cys) c.563A>G (p.Tyr188Cys) c.527A>G (p.Tyr176Cys) n.788A>G | |
6 | g.24596129T>G | CA362971357 | KIAA0319 | c.545A>C (p.Tyr182Ser) c.410A>C (p.Tyr137Ser) c.518A>C (p.Tyr173Ser) c.89A>C (p.Tyr30Ser) c.563A>C (p.Tyr188Ser) c.527A>C (p.Tyr176Ser) n.788A>C | |
6 | g.24596130A>C | CA362971359 | KIAA0319 | c.544T>G (p.Tyr182Asp) c.409T>G (p.Tyr137Asp) c.517T>G (p.Tyr173Asp) c.88T>G (p.Tyr30Asp) c.562T>G (p.Tyr188Asp) c.526T>G (p.Tyr176Asp) n.787T>G | |
6 | g.24596130A>G | CA362971360 | KIAA0319 | c.544T>C (p.Tyr182His) c.409T>C (p.Tyr137His) c.517T>C (p.Tyr173His) c.88T>C (p.Tyr30His) c.562T>C (p.Tyr188His) c.526T>C (p.Tyr176His) n.787T>C | |
6 | g.24596130A>T | CA362971361 | KIAA0319 | c.544T>A (p.Tyr182Asn) c.409T>A (p.Tyr137Asn) c.517T>A (p.Tyr173Asn) c.88T>A (p.Tyr30Asn) c.562T>A (p.Tyr188Asn) c.526T>A (p.Tyr176Asn) n.787T>A | |
6 | g.24596131C>A | CA362971362 | KIAA0319 | c.543G>T (p.Glu181Asp) c.408G>T (p.Glu136Asp) c.516G>T (p.Glu172Asp) c.87G>T (p.Glu29Asp) c.561G>T (p.Glu187Asp) c.525G>T (p.Glu175Asp) n.786G>T | |
6 | g.24596131C= | CA1616548815 | KIAA0319 | c.543G= (p.Glu181=) c.408G= (p.Glu136=) c.516G= (p.Glu172=) c.87G= (p.Glu29=) c.561G= (p.Glu187=) c.525G= (p.Glu175=) n.786G= | |
6 | g.24596131C>G | CA362971363 | KIAA0319 | c.543G>C (p.Glu181Asp) c.408G>C (p.Glu136Asp) c.516G>C (p.Glu172Asp) c.87G>C (p.Glu29Asp) c.561G>C (p.Glu187Asp) c.525G>C (p.Glu175Asp) n.786G>C | |
6 | g.24596131C>T | CA448958871 | KIAA0319 | c.543G>A (p.Glu181=) c.408G>A (p.Glu136=) c.516G>A (p.Glu172=) c.87G>A (p.Glu29=) c.561G>A (p.Glu187=) c.525G>A (p.Glu175=) n.786G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596132T>A | CA362971364 | KIAA0319 | c.542A>T (p.Glu181Val) c.407A>T (p.Glu136Val) c.515A>T (p.Glu172Val) c.86A>T (p.Glu29Val) c.560A>T (p.Glu187Val) c.524A>T (p.Glu175Val) n.785A>T | |
6 | g.24596132T>C | CA362971365 | KIAA0319 | c.542A>G (p.Glu181Gly) c.407A>G (p.Glu136Gly) c.515A>G (p.Glu172Gly) c.86A>G (p.Glu29Gly) c.560A>G (p.Glu187Gly) c.524A>G (p.Glu175Gly) n.785A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596132T>G | CA362971366 | KIAA0319 | c.542A>C (p.Glu181Ala) c.407A>C (p.Glu136Ala) c.515A>C (p.Glu172Ala) c.86A>C (p.Glu29Ala) c.560A>C (p.Glu187Ala) c.524A>C (p.Glu175Ala) n.785A>C | |
6 | g.24596132T= | CA1616548816 | KIAA0319 | c.542A= (p.Glu181=) c.407A= (p.Glu136=) c.515A= (p.Glu172=) c.86A= (p.Glu29=) c.560A= (p.Glu187=) c.524A= (p.Glu175=) n.785A= | |
6 | g.24596133C>A | CA362971367 | KIAA0319 | c.541G>T (p.Glu181Ter) c.406G>T (p.Glu136Ter) c.514G>T (p.Glu172Ter) c.85G>T (p.Glu29Ter) c.559G>T (p.Glu187Ter) c.523G>T (p.Glu175Ter) n.784G>T | |
6 | g.24596133C= | CA1616548817 | KIAA0319 | c.541G= (p.Glu181=) c.406G= (p.Glu136=) c.514G= (p.Glu172=) c.85G= (p.Glu29=) c.559G= (p.Glu187=) c.523G= (p.Glu175=) n.784G= | |
6 | g.24596133C>G | CA362971368 | KIAA0319 | c.541G>C (p.Glu181Gln) c.406G>C (p.Glu136Gln) c.514G>C (p.Glu172Gln) c.85G>C (p.Glu29Gln) c.559G>C (p.Glu187Gln) c.523G>C (p.Glu175Gln) n.784G>C | |
6 | g.24596133C>T | CA3657825 | KIAA0319 | c.541G>A (p.Glu181Lys) c.406G>A (p.Glu136Lys) c.514G>A (p.Glu172Lys) c.85G>A (p.Glu29Lys) c.559G>A (p.Glu187Lys) c.523G>A (p.Glu175Lys) n.784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596134G>A | CA3657826 | KIAA0319 | c.540C>T (p.Ala180=) c.405C>T (p.Ala135=) c.513C>T (p.Ala171=) c.84C>T (p.Ala28=) c.558C>T (p.Ala186=) c.522C>T (p.Ala174=) n.783C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596134G>C | CA448958872 | KIAA0319 | c.540C>G (p.Ala180=) c.405C>G (p.Ala135=) c.513C>G (p.Ala171=) c.84C>G (p.Ala28=) c.558C>G (p.Ala186=) c.522C>G (p.Ala174=) n.783C>G | |
6 | g.24596134G= | CA1616548818 | KIAA0319 | c.540C= (p.Ala180=) c.405C= (p.Ala135=) c.513C= (p.Ala171=) c.84C= (p.Ala28=) c.558C= (p.Ala186=) c.522C= (p.Ala174=) n.783C= | |
6 | g.24596134G>T | CA448958873 | KIAA0319 | c.540C>A (p.Ala180=) c.405C>A (p.Ala135=) c.513C>A (p.Ala171=) c.84C>A (p.Ala28=) c.558C>A (p.Ala186=) c.522C>A (p.Ala174=) n.783C>A | |
6 | g.24596135G>A | CA362971369 | KIAA0319 | c.539C>T (p.Ala180Val) c.404C>T (p.Ala135Val) c.512C>T (p.Ala171Val) c.83C>T (p.Ala28Val) c.557C>T (p.Ala186Val) c.521C>T (p.Ala174Val) n.782C>T | |
6 | g.24596135G>C | CA362971371 | KIAA0319 | c.539C>G (p.Ala180Gly) c.404C>G (p.Ala135Gly) c.512C>G (p.Ala171Gly) c.83C>G (p.Ala28Gly) c.557C>G (p.Ala186Gly) c.521C>G (p.Ala174Gly) n.782C>G | |
6 | g.24596135G>T | CA362971370 | KIAA0319 | c.539C>A (p.Ala180Asp) c.404C>A (p.Ala135Asp) c.512C>A (p.Ala171Asp) c.83C>A (p.Ala28Asp) c.557C>A (p.Ala186Asp) c.521C>A (p.Ala174Asp) n.782C>A | |
6 | g.24596136C>A | CA362971372 | KIAA0319 | c.538G>T (p.Ala180Ser) c.403G>T (p.Ala135Ser) c.511G>T (p.Ala171Ser) c.82G>T (p.Ala28Ser) c.556G>T (p.Ala186Ser) c.520G>T (p.Ala174Ser) n.781G>T | |
6 | g.24596136C>G | CA362971373 | KIAA0319 | c.538G>C (p.Ala180Pro) c.403G>C (p.Ala135Pro) c.511G>C (p.Ala171Pro) c.82G>C (p.Ala28Pro) c.556G>C (p.Ala186Pro) c.520G>C (p.Ala174Pro) n.781G>C | |
6 | g.24596136C>T | CA362971374 | KIAA0319 | c.538G>A (p.Ala180Thr) c.403G>A (p.Ala135Thr) c.511G>A (p.Ala171Thr) c.82G>A (p.Ala28Thr) c.556G>A (p.Ala186Thr) c.520G>A (p.Ala174Thr) n.781G>A | |
6 | g.24596137_24596151del | CA2677536219 | KIAA0319 | c.524_538del (p.Glu175_Ser179del) c.389_403del (p.Glu130_Ser134del) c.497_511del (p.Glu166_Ser170del) c.68_82del (p.Glu23_Ser27del) c.542_556del (p.Glu181_Ser185del) c.506_520del (p.Glu169_Ser173del) n.767_781del | gnomAD v4 |
6 | g.24596137A>C | CA362971375 | KIAA0319 | c.537T>G (p.Ser179Arg) c.402T>G (p.Ser134Arg) c.510T>G (p.Ser170Arg) c.81T>G (p.Ser27Arg) c.555T>G (p.Ser185Arg) c.519T>G (p.Ser173Arg) n.780T>G | |
6 | g.24596137A>G | CA448958874 | KIAA0319 | c.537T>C (p.Ser179=) c.402T>C (p.Ser134=) c.510T>C (p.Ser170=) c.81T>C (p.Ser27=) c.555T>C (p.Ser185=) c.519T>C (p.Ser173=) n.780T>C | |
6 | g.24596137A>T | CA362971376 | KIAA0319 | c.537T>A (p.Ser179Arg) c.402T>A (p.Ser134Arg) c.510T>A (p.Ser170Arg) c.81T>A (p.Ser27Arg) c.555T>A (p.Ser185Arg) c.519T>A (p.Ser173Arg) n.780T>A | |
6 | g.24596138C>A | CA362971379 | KIAA0319 | c.536G>T (p.Ser179Ile) c.401G>T (p.Ser134Ile) c.509G>T (p.Ser170Ile) c.80G>T (p.Ser27Ile) c.554G>T (p.Ser185Ile) c.518G>T (p.Ser173Ile) n.779G>T | |
6 | g.24596138C>G | CA362971378 | KIAA0319 | c.536G>C (p.Ser179Thr) c.401G>C (p.Ser134Thr) c.509G>C (p.Ser170Thr) c.80G>C (p.Ser27Thr) c.554G>C (p.Ser185Thr) c.518G>C (p.Ser173Thr) n.779G>C | gnomAD v4 |
6 | g.24596138C>T | CA362971377 | KIAA0319 | c.536G>A (p.Ser179Asn) c.401G>A (p.Ser134Asn) c.509G>A (p.Ser170Asn) c.80G>A (p.Ser27Asn) c.554G>A (p.Ser185Asn) c.518G>A (p.Ser173Asn) n.779G>A | gnomAD v4 |
6 | g.24596139T>A | CA362971380 | KIAA0319 | c.535A>T (p.Ser179Cys) c.400A>T (p.Ser134Cys) c.508A>T (p.Ser170Cys) c.79A>T (p.Ser27Cys) c.553A>T (p.Ser185Cys) c.517A>T (p.Ser173Cys) n.778A>T | |
6 | g.24596139T>C | CA362971381 | KIAA0319 | c.535A>G (p.Ser179Gly) c.400A>G (p.Ser134Gly) c.508A>G (p.Ser170Gly) c.79A>G (p.Ser27Gly) c.553A>G (p.Ser185Gly) c.517A>G (p.Ser173Gly) n.778A>G | |
6 | g.24596139T>G | CA362971382 | KIAA0319 | c.535A>C (p.Ser179Arg) c.400A>C (p.Ser134Arg) c.508A>C (p.Ser170Arg) c.79A>C (p.Ser27Arg) c.553A>C (p.Ser185Arg) c.517A>C (p.Ser173Arg) n.778A>C | |
6 | g.24596140C>A | CA448958877 | KIAA0319 | c.534G>T (p.Gly178=) c.399G>T (p.Gly133=) c.507G>T (p.Gly169=) c.78G>T (p.Gly26=) c.552G>T (p.Gly184=) c.516G>T (p.Gly172=) n.777G>T | |
6 | g.24596140C= | CA1616548819 | KIAA0319 | c.534G= (p.Gly178=) c.399G= (p.Gly133=) c.507G= (p.Gly169=) c.78G= (p.Gly26=) c.552G= (p.Gly184=) c.516G= (p.Gly172=) n.777G= | |
6 | g.24596140C>G | CA448958876 | KIAA0319 | c.534G>C (p.Gly178=) c.399G>C (p.Gly133=) c.507G>C (p.Gly169=) c.78G>C (p.Gly26=) c.552G>C (p.Gly184=) c.516G>C (p.Gly172=) n.777G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596140C>T | CA448958875 | KIAA0319 | c.534G>A (p.Gly178=) c.399G>A (p.Gly133=) c.507G>A (p.Gly169=) c.78G>A (p.Gly26=) c.552G>A (p.Gly184=) c.516G>A (p.Gly172=) n.777G>A | |
6 | g.24596141C>A | CA362971383 | KIAA0319 | c.533G>T (p.Gly178Val) c.398G>T (p.Gly133Val) c.506G>T (p.Gly169Val) c.77G>T (p.Gly26Val) c.551G>T (p.Gly184Val) c.515G>T (p.Gly172Val) n.776G>T | |
6 | g.24596141C= | CA1616548820 | KIAA0319 | c.533G= (p.Gly178=) c.398G= (p.Gly133=) c.506G= (p.Gly169=) c.77G= (p.Gly26=) c.551G= (p.Gly184=) c.515G= (p.Gly172=) n.776G= | |
6 | g.24596141C>G | CA362971384 | KIAA0319 | c.533G>C (p.Gly178Ala) c.398G>C (p.Gly133Ala) c.506G>C (p.Gly169Ala) c.77G>C (p.Gly26Ala) c.551G>C (p.Gly184Ala) c.515G>C (p.Gly172Ala) n.776G>C | |
6 | g.24596141C>T | CA362971385 | KIAA0319 | c.533G>A (p.Gly178Glu) c.398G>A (p.Gly133Glu) c.506G>A (p.Gly169Glu) c.77G>A (p.Gly26Glu) c.551G>A (p.Gly184Glu) c.515G>A (p.Gly172Glu) n.776G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596142C>A | CA362971386 | KIAA0319 | c.532G>T (p.Gly178Trp) c.397G>T (p.Gly133Trp) c.505G>T (p.Gly169Trp) c.76G>T (p.Gly26Trp) c.550G>T (p.Gly184Trp) c.514G>T (p.Gly172Trp) n.775G>T | |
6 | g.24596142C= | CA1616548821 | KIAA0319 | c.532G= (p.Gly178=) c.397G= (p.Gly133=) c.505G= (p.Gly169=) c.76G= (p.Gly26=) c.550G= (p.Gly184=) c.514G= (p.Gly172=) n.775G= | |
6 | g.24596142C>G | CA362971388 | KIAA0319 | c.532G>C (p.Gly178Arg) c.397G>C (p.Gly133Arg) c.505G>C (p.Gly169Arg) c.76G>C (p.Gly26Arg) c.550G>C (p.Gly184Arg) c.514G>C (p.Gly172Arg) n.775G>C | dbSNP gnomAD v2 |
6 | g.24596142C>T | CA362971387 | KIAA0319 | c.532G>A (p.Gly178Arg) c.397G>A (p.Gly133Arg) c.505G>A (p.Gly169Arg) c.76G>A (p.Gly26Arg) c.550G>A (p.Gly184Arg) c.514G>A (p.Gly172Arg) n.775G>A | |
6 | g.24596143T>A | CA362971389 | KIAA0319 | c.531A>T (p.Arg177Ser) c.396A>T (p.Arg132Ser) c.504A>T (p.Arg168Ser) c.75A>T (p.Arg25Ser) c.549A>T (p.Arg183Ser) c.513A>T (p.Arg171Ser) n.774A>T | |
6 | g.24596143T>C | CA448958878 | KIAA0319 | c.531A>G (p.Arg177=) c.396A>G (p.Arg132=) c.504A>G (p.Arg168=) c.75A>G (p.Arg25=) c.549A>G (p.Arg183=) c.513A>G (p.Arg171=) n.774A>G | |
6 | g.24596143T>G | CA362971390 | KIAA0319 | c.531A>C (p.Arg177Ser) c.396A>C (p.Arg132Ser) c.504A>C (p.Arg168Ser) c.75A>C (p.Arg25Ser) c.549A>C (p.Arg183Ser) c.513A>C (p.Arg171Ser) n.774A>C | |
6 | g.24596144C>A | CA362971391 | KIAA0319 | c.530G>T (p.Arg177Ile) c.395G>T (p.Arg132Ile) c.503G>T (p.Arg168Ile) c.74G>T (p.Arg25Ile) c.548G>T (p.Arg183Ile) c.512G>T (p.Arg171Ile) n.773G>T | |
6 | g.24596144C>G | CA362971392 | KIAA0319 | c.530G>C (p.Arg177Thr) c.395G>C (p.Arg132Thr) c.503G>C (p.Arg168Thr) c.74G>C (p.Arg25Thr) c.548G>C (p.Arg183Thr) c.512G>C (p.Arg171Thr) n.773G>C | |
6 | g.24596144C>T | CA362971393 | KIAA0319 | c.530G>A (p.Arg177Lys) c.395G>A (p.Arg132Lys) c.503G>A (p.Arg168Lys) c.74G>A (p.Arg25Lys) c.548G>A (p.Arg183Lys) c.512G>A (p.Arg171Lys) n.773G>A | |
6 | g.24596145T>A | CA362971394 | KIAA0319 | c.529A>T (p.Arg177Ter) c.394A>T (p.Arg132Ter) c.502A>T (p.Arg168Ter) c.73A>T (p.Arg25Ter) c.547A>T (p.Arg183Ter) c.511A>T (p.Arg171Ter) n.772A>T | |
6 | g.24596145T>C | CA362971395 | KIAA0319 | c.529A>G (p.Arg177Gly) c.394A>G (p.Arg132Gly) c.502A>G (p.Arg168Gly) c.73A>G (p.Arg25Gly) c.547A>G (p.Arg183Gly) c.511A>G (p.Arg171Gly) n.772A>G | |
6 | g.24596145T>G | CA448958879 | KIAA0319 | c.529A>C (p.Arg177=) c.394A>C (p.Arg132=) c.502A>C (p.Arg168=) c.73A>C (p.Arg25=) c.547A>C (p.Arg183=) c.511A>C (p.Arg171=) n.772A>C | |
6 | g.24596146G>A | CA448958880 | KIAA0319 | c.528C>T (p.Pro176=) c.393C>T (p.Pro131=) c.501C>T (p.Pro167=) c.72C>T (p.Pro24=) c.546C>T (p.Pro182=) c.510C>T (p.Pro170=) n.771C>T | |
6 | g.24596146G>C | CA448958882 | KIAA0319 | c.528C>G (p.Pro176=) c.393C>G (p.Pro131=) c.501C>G (p.Pro167=) c.72C>G (p.Pro24=) c.546C>G (p.Pro182=) c.510C>G (p.Pro170=) n.771C>G | |
6 | g.24596146G>T | CA448958881 | KIAA0319 | c.528C>A (p.Pro176=) c.393C>A (p.Pro131=) c.501C>A (p.Pro167=) c.72C>A (p.Pro24=) c.546C>A (p.Pro182=) c.510C>A (p.Pro170=) n.771C>A | |
6 | g.24596147G>A | CA362971396 | KIAA0319 | c.527C>T (p.Pro176Leu) c.392C>T (p.Pro131Leu) c.500C>T (p.Pro167Leu) c.71C>T (p.Pro24Leu) c.545C>T (p.Pro182Leu) c.509C>T (p.Pro170Leu) n.770C>T | |
6 | g.24596147G>C | CA362971397 | KIAA0319 | c.527C>G (p.Pro176Arg) c.392C>G (p.Pro131Arg) c.500C>G (p.Pro167Arg) c.71C>G (p.Pro24Arg) c.545C>G (p.Pro182Arg) c.509C>G (p.Pro170Arg) n.770C>G | |
6 | g.24596147G>T | CA362971398 | KIAA0319 | c.527C>A (p.Pro176His) c.392C>A (p.Pro131His) c.500C>A (p.Pro167His) c.71C>A (p.Pro24His) c.545C>A (p.Pro182His) c.509C>A (p.Pro170His) n.770C>A | |
6 | g.24596148G>A | CA362971399 | KIAA0319 | c.526C>T (p.Pro176Ser) c.391C>T (p.Pro131Ser) c.499C>T (p.Pro167Ser) c.70C>T (p.Pro24Ser) c.544C>T (p.Pro182Ser) c.508C>T (p.Pro170Ser) n.769C>T | |
6 | g.24596148G>C | CA362971401 | KIAA0319 | c.526C>G (p.Pro176Ala) c.391C>G (p.Pro131Ala) c.499C>G (p.Pro167Ala) c.70C>G (p.Pro24Ala) c.544C>G (p.Pro182Ala) c.508C>G (p.Pro170Ala) n.769C>G | |
6 | g.24596148G>T | CA362971400 | KIAA0319 | c.526C>A (p.Pro176Thr) c.391C>A (p.Pro131Thr) c.499C>A (p.Pro167Thr) c.70C>A (p.Pro24Thr) c.544C>A (p.Pro182Thr) c.508C>A (p.Pro170Thr) n.769C>A | |
6 | g.24596149C>A | CA3657827 | KIAA0319 | c.525G>T (p.Glu175Asp) c.390G>T (p.Glu130Asp) c.498G>T (p.Glu166Asp) c.69G>T (p.Glu23Asp) c.543G>T (p.Glu181Asp) c.507G>T (p.Glu169Asp) n.768G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596149C= | CA1616548822 | KIAA0319 | c.525G= (p.Glu175=) c.390G= (p.Glu130=) c.498G= (p.Glu166=) c.69G= (p.Glu23=) c.543G= (p.Glu181=) c.507G= (p.Glu169=) n.768G= | |
6 | g.24596149C>G | CA362971402 | KIAA0319 | c.525G>C (p.Glu175Asp) c.390G>C (p.Glu130Asp) c.498G>C (p.Glu166Asp) c.69G>C (p.Glu23Asp) c.543G>C (p.Glu181Asp) c.507G>C (p.Glu169Asp) n.768G>C | |
6 | g.24596149C>T | CA3657828 | KIAA0319 | c.525G>A (p.Glu175=) c.390G>A (p.Glu130=) c.498G>A (p.Glu166=) c.69G>A (p.Glu23=) c.543G>A (p.Glu181=) c.507G>A (p.Glu169=) n.768G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596150T>A | CA362971403 | KIAA0319 | c.524A>T (p.Glu175Val) c.389A>T (p.Glu130Val) c.497A>T (p.Glu166Val) c.68A>T (p.Glu23Val) c.542A>T (p.Glu181Val) c.506A>T (p.Glu169Val) n.767A>T | |
6 | g.24596150T>C | CA362971404 | KIAA0319 | c.524A>G (p.Glu175Gly) c.389A>G (p.Glu130Gly) c.497A>G (p.Glu166Gly) c.68A>G (p.Glu23Gly) c.542A>G (p.Glu181Gly) c.506A>G (p.Glu169Gly) n.767A>G | |
6 | g.24596150T>G | CA362971405 | KIAA0319 | c.524A>C (p.Glu175Ala) c.389A>C (p.Glu130Ala) c.497A>C (p.Glu166Ala) c.68A>C (p.Glu23Ala) c.542A>C (p.Glu181Ala) c.506A>C (p.Glu169Ala) n.767A>C | |
6 | g.24596151C>A | CA362971406 | KIAA0319 | c.523G>T (p.Glu175Ter) c.388G>T (p.Glu130Ter) c.496G>T (p.Glu166Ter) c.67G>T (p.Glu23Ter) c.541G>T (p.Glu181Ter) c.505G>T (p.Glu169Ter) n.766G>T | dbSNP |
6 | g.24596151C= | CA1616548823 | KIAA0319 | c.523G= (p.Glu175=) c.388G= (p.Glu130=) c.496G= (p.Glu166=) c.67G= (p.Glu23=) c.541G= (p.Glu181=) c.505G= (p.Glu169=) n.766G= | |
6 | g.24596151C>G | CA362971407 | KIAA0319 | c.523G>C (p.Glu175Gln) c.388G>C (p.Glu130Gln) c.496G>C (p.Glu166Gln) c.67G>C (p.Glu23Gln) c.541G>C (p.Glu181Gln) c.505G>C (p.Glu169Gln) n.766G>C | |
6 | g.24596151C>T | CA136131439 | KIAA0319 | c.523G>A (p.Glu175Lys) c.388G>A (p.Glu130Lys) c.496G>A (p.Glu166Lys) c.67G>A (p.Glu23Lys) c.541G>A (p.Glu181Lys) c.505G>A (p.Glu169Lys) n.766G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596152C>A | CA362971408 | KIAA0319 | c.522G>T (p.Gln174His) c.387G>T (p.Gln129His) c.495G>T (p.Gln165His) c.66G>T (p.Gln22His) c.540G>T (p.Gln180His) c.504G>T (p.Gln168His) n.765G>T | |
6 | g.24596152C>G | CA362971409 | KIAA0319 | c.522G>C (p.Gln174His) c.387G>C (p.Gln129His) c.495G>C (p.Gln165His) c.66G>C (p.Gln22His) c.540G>C (p.Gln180His) c.504G>C (p.Gln168His) n.765G>C | |
6 | g.24596152C>T | CA448958883 | KIAA0319 | c.522G>A (p.Gln174=) c.387G>A (p.Gln129=) c.495G>A (p.Gln165=) c.66G>A (p.Gln22=) c.540G>A (p.Gln180=) c.504G>A (p.Gln168=) n.765G>A | |
6 | g.24596153T>A | CA362971410 | KIAA0319 | c.521A>T (p.Gln174Leu) c.386A>T (p.Gln129Leu) c.494A>T (p.Gln165Leu) c.65A>T (p.Gln22Leu) c.539A>T (p.Gln180Leu) c.503A>T (p.Gln168Leu) n.764A>T | |
6 | g.24596153T>C | CA3657829 | KIAA0319 | c.521A>G (p.Gln174Arg) c.386A>G (p.Gln129Arg) c.494A>G (p.Gln165Arg) c.65A>G (p.Gln22Arg) c.539A>G (p.Gln180Arg) c.503A>G (p.Gln168Arg) n.764A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596153T>G | CA362971411 | KIAA0319 | c.521A>C (p.Gln174Pro) c.386A>C (p.Gln129Pro) c.494A>C (p.Gln165Pro) c.65A>C (p.Gln22Pro) c.539A>C (p.Gln180Pro) c.503A>C (p.Gln168Pro) n.764A>C | |
6 | g.24596153T= | CA1616548824 | KIAA0319 | c.521A= (p.Gln174=) c.386A= (p.Gln129=) c.494A= (p.Gln165=) c.65A= (p.Gln22=) c.539A= (p.Gln180=) c.503A= (p.Gln168=) n.764A= | |
6 | g.24596154G>A | CA362971414 | KIAA0319 | c.520C>T (p.Gln174Ter) c.385C>T (p.Gln129Ter) c.493C>T (p.Gln165Ter) c.64C>T (p.Gln22Ter) c.538C>T (p.Gln180Ter) c.502C>T (p.Gln168Ter) n.763C>T | |
6 | g.24596154G>C | CA362971413 | KIAA0319 | c.520C>G (p.Gln174Glu) c.385C>G (p.Gln129Glu) c.493C>G (p.Gln165Glu) c.64C>G (p.Gln22Glu) c.538C>G (p.Gln180Glu) c.502C>G (p.Gln168Glu) n.763C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596154G= | CA1616548825 | KIAA0319 | c.520C= (p.Gln174=) c.385C= (p.Gln129=) c.493C= (p.Gln165=) c.64C= (p.Gln22=) c.538C= (p.Gln180=) c.502C= (p.Gln168=) n.763C= | |
6 | g.24596154G>T | CA362971412 | KIAA0319 | c.520C>A (p.Gln174Lys) c.385C>A (p.Gln129Lys) c.493C>A (p.Gln165Lys) c.64C>A (p.Gln22Lys) c.538C>A (p.Gln180Lys) c.502C>A (p.Gln168Lys) n.763C>A | |
6 | g.24596155C>A | CA362971415 | KIAA0319 | c.519G>T (p.Lys173Asn) c.384G>T (p.Lys128Asn) c.492G>T (p.Lys164Asn) c.63G>T (p.Lys21Asn) c.537G>T (p.Lys179Asn) c.501G>T (p.Lys167Asn) n.762G>T | |
6 | g.24596155C>G | CA362971416 | KIAA0319 | c.519G>C (p.Lys173Asn) c.384G>C (p.Lys128Asn) c.492G>C (p.Lys164Asn) c.63G>C (p.Lys21Asn) c.537G>C (p.Lys179Asn) c.501G>C (p.Lys167Asn) n.762G>C | |
6 | g.24596155C>T | CA448958884 | KIAA0319 | c.519G>A (p.Lys173=) c.384G>A (p.Lys128=) c.492G>A (p.Lys164=) c.63G>A (p.Lys21=) c.537G>A (p.Lys179=) c.501G>A (p.Lys167=) n.762G>A | dbSNP |
6 | g.24596156T>A | CA362971417 | KIAA0319 | c.518A>T (p.Lys173Met) c.383A>T (p.Lys128Met) c.491A>T (p.Lys164Met) c.62A>T (p.Lys21Met) c.536A>T (p.Lys179Met) c.500A>T (p.Lys167Met) n.761A>T | |
6 | g.24596156T>C | CA362971418 | KIAA0319 | c.518A>G (p.Lys173Arg) c.383A>G (p.Lys128Arg) c.491A>G (p.Lys164Arg) c.62A>G (p.Lys21Arg) c.536A>G (p.Lys179Arg) c.500A>G (p.Lys167Arg) n.761A>G | gnomAD v4 |
6 | g.24596156T>G | CA362971419 | KIAA0319 | c.518A>C (p.Lys173Thr) c.383A>C (p.Lys128Thr) c.491A>C (p.Lys164Thr) c.62A>C (p.Lys21Thr) c.536A>C (p.Lys179Thr) c.500A>C (p.Lys167Thr) n.761A>C | |
6 | g.24596157T>A | CA362971420 | KIAA0319 | c.517A>T (p.Lys173Ter) c.382A>T (p.Lys128Ter) c.490A>T (p.Lys164Ter) c.61A>T (p.Lys21Ter) c.535A>T (p.Lys179Ter) c.499A>T (p.Lys167Ter) n.760A>T | |
6 | g.24596157T>C | CA362971421 | KIAA0319 | c.517A>G (p.Lys173Glu) c.382A>G (p.Lys128Glu) c.490A>G (p.Lys164Glu) c.61A>G (p.Lys21Glu) c.535A>G (p.Lys179Glu) c.499A>G (p.Lys167Glu) n.760A>G | |
6 | g.24596157T>G | CA362971422 | KIAA0319 | c.517A>C (p.Lys173Gln) c.382A>C (p.Lys128Gln) c.490A>C (p.Lys164Gln) c.61A>C (p.Lys21Gln) c.535A>C (p.Lys179Gln) c.499A>C (p.Lys167Gln) n.760A>C | |
6 | g.24596158G>A | CA448958885 | KIAA0319 | c.516C>T (p.Gly172=) c.381C>T (p.Gly127=) c.489C>T (p.Gly163=) c.60C>T (p.Gly20=) c.534C>T (p.Gly178=) c.498C>T (p.Gly166=) n.759C>T | |
6 | g.24596158G>C | CA448958886 | KIAA0319 | c.516C>G (p.Gly172=) c.381C>G (p.Gly127=) c.489C>G (p.Gly163=) c.60C>G (p.Gly20=) c.534C>G (p.Gly178=) c.498C>G (p.Gly166=) n.759C>G | |
6 | g.24596158G>T | CA448958887 | KIAA0319 | c.516C>A (p.Gly172=) c.381C>A (p.Gly127=) c.489C>A (p.Gly163=) c.60C>A (p.Gly20=) c.534C>A (p.Gly178=) c.498C>A (p.Gly166=) n.759C>A |