Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108668280_108668300del | CA2579676910 | COL4A5 | c.3605-39_3605-19del (n.3605-39_3605-19del) c.3281-39_3281-19del (n.3281-39_3281-19del) c.1178-39_1178-19del (n.1178-39_1178-19del) c.3620-39_3620-19del (n.3620-39_3620-19del) c.1940-39_1940-19del (n.1940-39_1940-19del) | ClinVar gnomAD v4 |
X | g.108668292T>A | CA2579676914 | COL4A5 | c.3605-27T>A (n.3605-27T>A) c.3281-27T>A (n.3281-27T>A) c.1178-27T>A (n.1178-27T>A) c.3620-27T>A (n.3620-27T>A) c.1940-27T>A (n.1940-27T>A) | gnomAD v4 |
X | g.108668292T>C | CA10489150 | COL4A5 | c.3605-27T>C (n.3605-27T>C) c.3281-27T>C (n.3281-27T>C) c.1178-27T>C (n.1178-27T>C) c.3620-27T>C (n.3620-27T>C) c.1940-27T>C (n.1940-27T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668292T= | CA2450712897 | COL4A5 | c.3605-27T= (n.3605-27T=) c.3281-27T= (n.3281-27T=) c.1178-27T= (n.1178-27T=) c.3620-27T= (n.3620-27T=) c.1940-27T= (n.1940-27T=) | |
X | g.108668294T>G | CA10489151 | COL4A5 | c.3605-25T>G (n.3605-25T>G) c.3281-25T>G (n.3281-25T>G) c.1178-25T>G (n.1178-25T>G) c.3620-25T>G (n.3620-25T>G) c.1940-25T>G (n.1940-25T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668294T= | CA2450712898 | COL4A5 | c.3605-25T= (n.3605-25T=) c.3281-25T= (n.3281-25T=) c.1178-25T= (n.1178-25T=) c.3620-25T= (n.3620-25T=) c.1940-25T= (n.1940-25T=) | |
X | g.108668299_108668305delinsATTATAC | CA2450712899 | COL4A5 | c.3605-20_3605-14delinsATTATAC (n.3605-20_3605-14delinsATTATAC) c.3281-20_3281-14delinsATTATAC (n.3281-20_3281-14delinsATTATAC) c.1178-20_1178-14delinsATTATAC (n.1178-20_1178-14delinsATTATAC) c.3620-20_3620-14delinsATTATAC (n.3620-20_3620-14delinsATTATAC) c.1940-20_1940-14delinsATTATAC (n.1940-20_1940-14delinsATTATAC) | |
X | g.108668300T>G | CA2694441652 | COL4A5 | c.3605-19T>G (n.3605-19T>G) c.3281-19T>G (n.3281-19T>G) c.1178-19T>G (n.1178-19T>G) c.3620-19T>G (n.3620-19T>G) c.1940-19T>G (n.1940-19T>G) | gnomAD v4 |
X | g.108668302_108668307del | CA869813024 | COL4A5 | c.3605-17_3605-12del (n.3605-17_3605-12del) c.3281-17_3281-12del (n.3281-17_3281-12del) c.1178-17_1178-12del (n.1178-17_1178-12del) c.3620-17_3620-12del (n.3620-17_3620-12del) c.1940-17_1940-12del (n.1940-17_1940-12del) | dbSNP |
X | g.108668301T>A | CA643636685 | COL4A5 | c.3605-18T>A (n.3605-18T>A) c.3281-18T>A (n.3281-18T>A) c.1178-18T>A (n.1178-18T>A) c.3620-18T>A (n.3620-18T>A) c.1940-18T>A (n.1940-18T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668301T= | CA2450712900 | COL4A5 | c.3605-18T= (n.3605-18T=) c.3281-18T= (n.3281-18T=) c.1178-18T= (n.1178-18T=) c.3620-18T= (n.3620-18T=) c.1940-18T= (n.1940-18T=) | |
X | g.108668302_108668307delinsATACTT | CA2450712901 | COL4A5 | c.3605-17_3605-12delinsATACTT (n.3605-17_3605-12delinsATACTT) c.3281-17_3281-12delinsATACTT (n.3281-17_3281-12delinsATACTT) c.1178-17_1178-12delinsATACTT (n.1178-17_1178-12delinsATACTT) c.3620-17_3620-12delinsATACTT (n.3620-17_3620-12delinsATACTT) c.1940-17_1940-12delinsATACTT (n.1940-17_1940-12delinsATACTT) | |
X | g.108668309_108668313del | CA869813047 | COL4A5 | c.3605-10_3605-6del (n.3605-10_3605-6del) c.3281-10_3281-6del (n.3281-10_3281-6del) c.1178-10_1178-6del (n.1178-10_1178-6del) c.3620-10_3620-6del (n.3620-10_3620-6del) c.1940-10_1940-6del (n.1940-10_1940-6del) | dbSNP |
X | g.108668304A= | CA2450712902 | COL4A5 | c.3605-15A= (n.3605-15A=) c.3281-15A= (n.3281-15A=) c.1178-15A= (n.1178-15A=) c.3620-15A= (n.3620-15A=) c.1940-15A= (n.1940-15A=) | |
X | g.108668304A>G | CA2450712903 | COL4A5 | c.3605-15A>G (n.3605-15A>G) c.3281-15A>G (n.3281-15A>G) c.1178-15A>G (n.1178-15A>G) c.3620-15A>G (n.3620-15A>G) c.1940-15A>G (n.1940-15A>G) | ClinVar dbSNP gnomAD v4 |
X | g.108668308del | CA2579676915 | COL4A5 | c.3605-11del (n.3605-11del) c.3281-11del (n.3281-11del) c.1178-11del (n.1178-11del) c.3620-11del (n.3620-11del) c.1940-11del (n.1940-11del) | |
X | g.108668307T>C | CA2450712904 | COL4A5 | c.3605-12T>C (n.3605-12T>C) c.3281-12T>C (n.3281-12T>C) c.1178-12T>C (n.1178-12T>C) c.3620-12T>C (n.3620-12T>C) c.1940-12T>C (n.1940-12T>C) | ClinVar dbSNP |
X | g.108668307T= | CA2450712905 | COL4A5 | c.3605-12T= (n.3605-12T=) c.3281-12T= (n.3281-12T=) c.1178-12T= (n.1178-12T=) c.3620-12T= (n.3620-12T=) c.1940-12T= (n.1940-12T=) | |
X | g.108668307_108668315delinsTTACTTTCA | CA2450712906 | COL4A5 | c.3605-12_3605-4delinsTTACTTTCA (n.3605-12_3605-4delinsTTACTTTCA) c.3281-12_3281-4delinsTTACTTTCA (n.3281-12_3281-4delinsTTACTTTCA) c.1178-12_1178-4delinsTTACTTTCA (n.1178-12_1178-4delinsTTACTTTCA) c.3620-12_3620-4delinsTTACTTTCA (n.3620-12_3620-4delinsTTACTTTCA) c.1940-12_1940-4delinsTTACTTTCA (n.1940-12_1940-4delinsTTACTTTCA) | |
X | g.108668308T>C | CA10489152 | COL4A5 | c.3605-11T>C (n.3605-11T>C) c.3281-11T>C (n.3281-11T>C) c.1178-11T>C (n.1178-11T>C) c.3620-11T>C (n.3620-11T>C) c.1940-11T>C (n.1940-11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668308T= | CA2450712907 | COL4A5 | c.3605-11T= (n.3605-11T=) c.3281-11T= (n.3281-11T=) c.1178-11T= (n.1178-11T=) c.3620-11T= (n.3620-11T=) c.1940-11T= (n.1940-11T=) | |
X | g.108668310_108668317del | CA920430367 | COL4A5 | c.3605-9_3605-2del (n.3605-9_3605-2del) c.3281-9_3281-2del (n.3281-9_3281-2del) c.1178-9_1178-2del (n.1178-9_1178-2del) c.3620-9_3620-2del (n.3620-9_3620-2del) c.1940-9_1940-2del (n.1940-9_1940-2del) | dbSNP |
X | g.108668310C= | CA2450712908 | COL4A5 | c.3605-9C= (n.3605-9C=) c.3281-9C= (n.3281-9C=) c.1178-9C= (n.1178-9C=) c.3620-9C= (n.3620-9C=) c.1940-9C= (n.1940-9C=) | |
X | g.108668310C>G | CA2695235651 | COL4A5 | c.3605-9C>G (n.3605-9C>G) c.3281-9C>G (n.3281-9C>G) c.1178-9C>G (n.1178-9C>G) c.3620-9C>G (n.3620-9C>G) c.1940-9C>G (n.1940-9C>G) | |
X | g.108668310C>T | CA10489153 | COL4A5 | c.3605-9C>T (n.3605-9C>T) c.3281-9C>T (n.3281-9C>T) c.1178-9C>T (n.1178-9C>T) c.3620-9C>T (n.3620-9C>T) c.1940-9C>T (n.1940-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668311T>G | CA10489154 | COL4A5 | c.3605-8T>G (n.3605-8T>G) c.3281-8T>G (n.3281-8T>G) c.1178-8T>G (n.1178-8T>G) c.3620-8T>G (n.3620-8T>G) c.1940-8T>G (n.1940-8T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108668311T= | CA2450712909 | COL4A5 | c.3605-8T= (n.3605-8T=) c.3281-8T= (n.3281-8T=) c.1178-8T= (n.1178-8T=) c.3620-8T= (n.3620-8T=) c.1940-8T= (n.1940-8T=) | |
X | g.108668312T>A | CA2694441653 | COL4A5 | c.3605-7T>A (n.3605-7T>A) c.3281-7T>A (n.3281-7T>A) c.1178-7T>A (n.1178-7T>A) c.3620-7T>A (n.3620-7T>A) c.1940-7T>A (n.1940-7T>A) | gnomAD v4 |
X | g.108668314C>T | CA2697544719 | COL4A5 | c.3605-5C>T (n.3605-5C>T) c.3281-5C>T (n.3281-5C>T) c.1178-5C>T (n.1178-5C>T) c.3620-5C>T (n.3620-5C>T) c.1940-5C>T (n.1940-5C>T) | ClinVar |
X | g.108668315A= | CA2450712910 | COL4A5 | c.3605-4A= (n.3605-4A=) c.3281-4A= (n.3281-4A=) c.1178-4A= (n.1178-4A=) c.3620-4A= (n.3620-4A=) c.1940-4A= (n.1940-4A=) | |
X | g.108668315A>G | CA643636686 | COL4A5 | c.3605-4A>G (n.3605-4A>G) c.3281-4A>G (n.3281-4A>G) c.1178-4A>G (n.1178-4A>G) c.3620-4A>G (n.3620-4A>G) c.1940-4A>G (n.1940-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108668315A>T | CA2694441654 | COL4A5 | c.3605-4A>T (n.3605-4A>T) c.3281-4A>T (n.3281-4A>T) c.1178-4A>T (n.1178-4A>T) c.3620-4A>T (n.3620-4A>T) c.1940-4A>T (n.1940-4A>T) | gnomAD v4 |
X | g.108668316T>C | CA2573159099 | COL4A5 | c.3605-3T>C (n.3605-3T>C) c.3281-3T>C (n.3281-3T>C) c.1178-3T>C (n.1178-3T>C) c.3620-3T>C (n.3620-3T>C) c.1940-3T>C (n.1940-3T>C) | ClinVar dbSNP gnomAD v4 |
X | g.108668317A= | CA2450712911 | COL4A5 | c.3605-2A= (n.3605-2A=) c.3281-2A= (n.3281-2A=) c.1178-2A= (n.1178-2A=) c.3620-2A= (n.3620-2A=) c.1940-2A= (n.1940-2A=) | |
X | g.108668317A>C | CA413848308 | COL4A5 | c.3605-2A>C (n.3605-2A>C) c.3281-2A>C (n.3281-2A>C) c.1178-2A>C (n.1178-2A>C) c.3620-2A>C (n.3620-2A>C) c.1940-2A>C (n.1940-2A>C) | |
X | g.108668317A>G | CA258905 | COL4A5 | c.3605-2A>G (n.3605-2A>G) c.3281-2A>G (n.3281-2A>G) c.1178-2A>G (n.1178-2A>G) c.3620-2A>G (n.3620-2A>G) c.1940-2A>G (n.1940-2A>G) | ClinVar dbSNP |
X | g.108668317A>T | CA413848311 | COL4A5 | c.3605-2A>T (n.3605-2A>T) c.3281-2A>T (n.3281-2A>T) c.1178-2A>T (n.1178-2A>T) c.3620-2A>T (n.3620-2A>T) c.1940-2A>T (n.1940-2A>T) | |
X | g.108668320_108668505del | CA2695235652 | COL4A5 | c.3606_3790+1del c.3282_3466+1del c.1179_1363+1del c.3621_3805+1del c.1941_2125+1del | |
X | g.108668318G>A | CA258906 | COL4A5 | c.3605-1G>A (n.3605-1G>A) c.3281-1G>A (n.3281-1G>A) c.1178-1G>A (n.1178-1G>A) c.3620-1G>A (n.3620-1G>A) c.1940-1G>A (n.1940-1G>A) | dbSNP |
X | g.108668318G>C | CA413848313 | COL4A5 | c.3605-1G>C (n.3605-1G>C) c.3281-1G>C (n.3281-1G>C) c.1178-1G>C (n.1178-1G>C) c.3620-1G>C (n.3620-1G>C) c.1940-1G>C (n.1940-1G>C) | |
X | g.108668318G= | CA2450712912 | COL4A5 | c.3605-1G= (n.3605-1G=) c.3281-1G= (n.3281-1G=) c.1178-1G= (n.1178-1G=) c.3620-1G= (n.3620-1G=) c.1940-1G= (n.1940-1G=) | |
X | g.108668318G>T | CA413848316 | COL4A5 | c.3605-1G>T (n.3605-1G>T) c.3281-1G>T (n.3281-1G>T) c.1178-1G>T (n.1178-1G>T) c.3620-1G>T (n.3620-1G>T) c.1940-1G>T (n.1940-1G>T) | |
X | g.108668319G>A | CA413848319 | COL4A5 | c.3605G>A (p.Gly1202Asp) c.3281G>A (p.Gly1094Asp) c.1178G>A (p.Gly393Asp) c.3620G>A (p.Gly1207Asp) c.1940G>A (p.Gly647Asp) | ClinVar dbSNP |
X | g.108668319G>C | CA413848321 | COL4A5 | c.3605G>C (p.Gly1202Ala) c.3281G>C (p.Gly1094Ala) c.1178G>C (p.Gly393Ala) c.3620G>C (p.Gly1207Ala) c.1940G>C (p.Gly647Ala) | |
X | g.108668319G= | CA2450712913 | COL4A5 | c.3605G= (p.Gly1202=) c.3281G= (p.Gly1094=) c.1178G= (p.Gly393=) c.3620G= (p.Gly1207=) c.1940G= (p.Gly647=) | |
X | g.108668319G>T | CA413848323 | COL4A5 | c.3605G>T (p.Gly1202Val) c.3281G>T (p.Gly1094Val) c.1178G>T (p.Gly393Val) c.3620G>T (p.Gly1207Val) c.1940G>T (p.Gly647Val) | ClinVar dbSNP |
X | g.108668320C>A | CA517922544 | COL4A5 | c.3606C>A (p.Gly1202=) c.3282C>A (p.Gly1094=) c.1179C>A (p.Gly393=) c.3621C>A (p.Gly1207=) c.1941C>A (p.Gly647=) | |
X | g.108668320C>G | CA517922545 | COL4A5 | c.3606C>G (p.Gly1202=) c.3282C>G (p.Gly1094=) c.1179C>G (p.Gly393=) c.3621C>G (p.Gly1207=) c.1941C>G (p.Gly647=) | |
X | g.108668320C>T | CA517922546 | COL4A5 | c.3606C>T (p.Gly1202=) c.3282C>T (p.Gly1094=) c.1179C>T (p.Gly393=) c.3621C>T (p.Gly1207=) c.1941C>T (p.Gly647=) | gnomAD v4 |
X | g.108668321C>A | CA413848325 | COL4A5 | c.3607C>A (p.Gln1203Lys) c.3283C>A (p.Gln1095Lys) c.1180C>A (p.Gln394Lys) c.3622C>A (p.Gln1208Lys) c.1942C>A (p.Gln648Lys) | |
X | g.108668321C>G | CA413848327 | COL4A5 | c.3607C>G (p.Gln1203Glu) c.3283C>G (p.Gln1095Glu) c.1180C>G (p.Gln394Glu) c.3622C>G (p.Gln1208Glu) c.1942C>G (p.Gln648Glu) | |
X | g.108668321C>T | CA413848330 | COL4A5 | c.3607C>T (p.Gln1203Ter) c.3283C>T (p.Gln1095Ter) c.1180C>T (p.Gln394Ter) c.3622C>T (p.Gln1208Ter) c.1942C>T (p.Gln648Ter) | |
X | g.108668322A>C | CA413848332 | COL4A5 | c.3608A>C (p.Gln1203Pro) c.3284A>C (p.Gln1095Pro) c.1181A>C (p.Gln394Pro) c.3623A>C (p.Gln1208Pro) c.1943A>C (p.Gln648Pro) | |
X | g.108668322A>G | CA413848334 | COL4A5 | c.3608A>G (p.Gln1203Arg) c.3284A>G (p.Gln1095Arg) c.1181A>G (p.Gln394Arg) c.3623A>G (p.Gln1208Arg) c.1943A>G (p.Gln648Arg) | |
X | g.108668322A>T | CA413848336 | COL4A5 | c.3608A>T (p.Gln1203Leu) c.3284A>T (p.Gln1095Leu) c.1181A>T (p.Gln394Leu) c.3623A>T (p.Gln1208Leu) c.1943A>T (p.Gln648Leu) | |
X | g.108668325del | CA2579676916 | COL4A5 | c.3611del (p.Lys1204ArgfsTer?) c.3287del (p.Lys1096ArgfsTer?) c.1184del (p.Lys395ArgfsTer?) c.3626del (p.Lys1209ArgfsTer?) c.1946del (p.Lys649ArgfsTer?) | |
X | g.108668323A= | CA2450712914 | COL4A5 | c.3609A= (p.Gln1203=) c.3285A= (p.Gln1095=) c.1182A= (p.Gln394=) c.3624A= (p.Gln1208=) c.1944A= (p.Gln648=) | |
X | g.108668323A>C | CA413848339 | COL4A5 | c.3609A>C (p.Gln1203His) c.3285A>C (p.Gln1095His) c.1182A>C (p.Gln394His) c.3624A>C (p.Gln1208His) c.1944A>C (p.Gln648His) | |
X | g.108668323A>G | CA10489155 | COL4A5 | c.3609A>G (p.Gln1203=) c.3285A>G (p.Gln1095=) c.1182A>G (p.Gln394=) c.3624A>G (p.Gln1208=) c.1944A>G (p.Gln648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668323A>T | CA413848342 | COL4A5 | c.3609A>T (p.Gln1203His) c.3285A>T (p.Gln1095His) c.1182A>T (p.Gln394His) c.3624A>T (p.Gln1208His) c.1944A>T (p.Gln648His) | |
X | g.108668324A>C | CA413848349 | COL4A5 | c.3610A>C (p.Lys1204Gln) c.3286A>C (p.Lys1096Gln) c.1183A>C (p.Lys395Gln) c.3625A>C (p.Lys1209Gln) c.1945A>C (p.Lys649Gln) | |
X | g.108668324A>G | CA413848346 | COL4A5 | c.3610A>G (p.Lys1204Glu) c.3286A>G (p.Lys1096Glu) c.1183A>G (p.Lys395Glu) c.3625A>G (p.Lys1209Glu) c.1945A>G (p.Lys649Glu) | |
X | g.108668324A>T | CA413848344 | COL4A5 | c.3610A>T (p.Lys1204Ter) c.3286A>T (p.Lys1096Ter) c.1183A>T (p.Lys395Ter) c.3625A>T (p.Lys1209Ter) c.1945A>T (p.Lys649Ter) | |
X | g.108668325A>C | CA413848350 | COL4A5 | c.3611A>C (p.Lys1204Thr) c.3287A>C (p.Lys1096Thr) c.1184A>C (p.Lys395Thr) c.3626A>C (p.Lys1209Thr) c.1946A>C (p.Lys649Thr) | |
X | g.108668325A>G | CA413848353 | COL4A5 | c.3611A>G (p.Lys1204Arg) c.3287A>G (p.Lys1096Arg) c.1184A>G (p.Lys395Arg) c.3626A>G (p.Lys1209Arg) c.1946A>G (p.Lys649Arg) | COSMIC COSMIC |
X | g.108668325A>T | CA413848352 | COL4A5 | c.3611A>T (p.Lys1204Met) c.3287A>T (p.Lys1096Met) c.1184A>T (p.Lys395Met) c.3626A>T (p.Lys1209Met) c.1946A>T (p.Lys649Met) | |
X | g.108668326G>A | CA517922547 | COL4A5 | c.3612G>A (p.Lys1204=) c.3288G>A (p.Lys1096=) c.1185G>A (p.Lys395=) c.3627G>A (p.Lys1209=) c.1947G>A (p.Lys649=) | |
X | g.108668326G>C | CA413848354 | COL4A5 | c.3612G>C (p.Lys1204Asn) c.3288G>C (p.Lys1096Asn) c.1185G>C (p.Lys395Asn) c.3627G>C (p.Lys1209Asn) c.1947G>C (p.Lys649Asn) | |
X | g.108668326G>T | CA413848356 | COL4A5 | c.3612G>T (p.Lys1204Asn) c.3288G>T (p.Lys1096Asn) c.1185G>T (p.Lys395Asn) c.3627G>T (p.Lys1209Asn) c.1947G>T (p.Lys649Asn) | |
X | g.108668328del | CA2695235653 | COL4A5 | c.3614del (p.Gly1205ValfsTer?) c.3290del (p.Gly1097ValfsTer?) c.1187del (p.Gly396ValfsTer?) c.3629del (p.Gly1210ValfsTer?) c.1949del (p.Gly650ValfsTer?) | |
X | g.108668327G>A | CA258909 | COL4A5 | c.3613G>A (p.Gly1205Ser) c.3289G>A (p.Gly1097Ser) c.1186G>A (p.Gly396Ser) c.3628G>A (p.Gly1210Ser) c.1948G>A (p.Gly650Ser) | ClinVar dbSNP |
X | g.108668327G>C | CA413848359 | COL4A5 | c.3613G>C (p.Gly1205Arg) c.3289G>C (p.Gly1097Arg) c.1186G>C (p.Gly396Arg) c.3628G>C (p.Gly1210Arg) c.1948G>C (p.Gly650Arg) | |
X | g.108668327G= | CA2450712915 | COL4A5 | c.3613G= (p.Gly1205=) c.3289G= (p.Gly1097=) c.1186G= (p.Gly396=) c.3628G= (p.Gly1210=) c.1948G= (p.Gly650=) | |
X | g.108668327G>T | CA258907 | COL4A5 | c.3613G>T (p.Gly1205Cys) c.3289G>T (p.Gly1097Cys) c.1186G>T (p.Gly396Cys) c.3628G>T (p.Gly1210Cys) c.1948G>T (p.Gly650Cys) | dbSNP |
X | g.108668328G>A | CA413848361 | COL4A5 | c.3614G>A (p.Gly1205Asp) c.3290G>A (p.Gly1097Asp) c.1187G>A (p.Gly396Asp) c.3629G>A (p.Gly1210Asp) c.1949G>A (p.Gly650Asp) | ClinVar dbSNP gnomAD v4 |
X | g.108668328G>C | CA413848362 | COL4A5 | c.3614G>C (p.Gly1205Ala) c.3290G>C (p.Gly1097Ala) c.1187G>C (p.Gly396Ala) c.3629G>C (p.Gly1210Ala) c.1949G>C (p.Gly650Ala) | |
X | g.108668328G= | CA2450712916 | COL4A5 | c.3614G= (p.Gly1205=) c.3290G= (p.Gly1097=) c.1187G= (p.Gly396=) c.3629G= (p.Gly1210=) c.1949G= (p.Gly650=) | |
X | g.108668328G>T | CA413848363 | COL4A5 | c.3614G>T (p.Gly1205Val) c.3290G>T (p.Gly1097Val) c.1187G>T (p.Gly396Val) c.3629G>T (p.Gly1210Val) c.1949G>T (p.Gly650Val) | ClinVar dbSNP |
X | g.108668329T>A | CA517922550 | COL4A5 | c.3615T>A (p.Gly1205=) c.3291T>A (p.Gly1097=) c.1188T>A (p.Gly396=) c.3630T>A (p.Gly1210=) c.1950T>A (p.Gly650=) | |
X | g.108668329T>C | CA517922548 | COL4A5 | c.3615T>C (p.Gly1205=) c.3291T>C (p.Gly1097=) c.1188T>C (p.Gly396=) c.3630T>C (p.Gly1210=) c.1950T>C (p.Gly650=) | |
X | g.108668329T>G | CA517922549 | COL4A5 | c.3615T>G (p.Gly1205=) c.3291T>G (p.Gly1097=) c.1188T>G (p.Gly396=) c.3630T>G (p.Gly1210=) c.1950T>G (p.Gly650=) | |
X | g.108668329_108668333delinsTGATG | CA2450712917 | COL4A5 | c.3615_3619delinsTGATG (p.Gly1205=) c.3291_3295delinsTGATG (p.Gly1097=) c.1188_1192delinsTGATG (p.Gly396=) c.3630_3634delinsTGATG (p.Gly1210=) c.1950_1954delinsTGATG (p.Gly650=) | |
X | g.108668330G>A | CA413848364 | COL4A5 | c.3616G>A (p.Asp1206Asn) c.3292G>A (p.Asp1098Asn) c.1189G>A (p.Asp397Asn) c.3631G>A (p.Asp1211Asn) c.1951G>A (p.Asp651Asn) | |
X | g.108668330G>C | CA413848366 | COL4A5 | c.3616G>C (p.Asp1206His) c.3292G>C (p.Asp1098His) c.1189G>C (p.Asp397His) c.3631G>C (p.Asp1211His) c.1951G>C (p.Asp651His) | |
X | g.108668330G>T | CA413848367 | COL4A5 | c.3616G>T (p.Asp1206Tyr) c.3292G>T (p.Asp1098Tyr) c.1189G>T (p.Asp397Tyr) c.3631G>T (p.Asp1211Tyr) c.1951G>T (p.Asp651Tyr) | |
X | g.108668332_108668335del | CA334046710 | COL4A5 | c.3618_3621del (p.Asp1206GlufsTer?) c.3294_3297del (p.Asp1098GlufsTer?) c.1191_1194del (p.Asp397GlufsTer?) c.3633_3636del (p.Asp1211GlufsTer?) c.1953_1956del (p.Asp651GlufsTer?) | dbSNP |
X | g.108668331A>C | CA413848372 | COL4A5 | c.3617A>C (p.Asp1206Ala) c.3293A>C (p.Asp1098Ala) c.1190A>C (p.Asp397Ala) c.3632A>C (p.Asp1211Ala) c.1952A>C (p.Asp651Ala) | |
X | g.108668331A>G | CA413848369 | COL4A5 | c.3617A>G (p.Asp1206Gly) c.3293A>G (p.Asp1098Gly) c.1190A>G (p.Asp397Gly) c.3632A>G (p.Asp1211Gly) c.1952A>G (p.Asp651Gly) | ClinVar dbSNP gnomAD v4 |
X | g.108668331A>T | CA413848370 | COL4A5 | c.3617A>T (p.Asp1206Val) c.3293A>T (p.Asp1098Val) c.1190A>T (p.Asp397Val) c.3632A>T (p.Asp1211Val) c.1952A>T (p.Asp651Val) | |
X | g.108668331_108668336delinsATGGAG | CA2450712918 | COL4A5 | c.3617_3622delinsATGGAG (p.Asp1206=) c.3293_3298delinsATGGAG (p.Asp1098=) c.1190_1195delinsATGGAG (p.Asp397=) c.3632_3637delinsATGGAG (p.Asp1211=) c.1952_1957delinsATGGAG (p.Asp651=) | |
X | g.108668332T>A | CA413848375 | COL4A5 | c.3618T>A (p.Asp1206Glu) c.3294T>A (p.Asp1098Glu) c.1191T>A (p.Asp397Glu) c.3633T>A (p.Asp1211Glu) c.1953T>A (p.Asp651Glu) | |
X | g.108668332T>C | CA517922551 | COL4A5 | c.3618T>C (p.Asp1206=) c.3294T>C (p.Asp1098=) c.1191T>C (p.Asp397=) c.3633T>C (p.Asp1211=) c.1953T>C (p.Asp651=) | ClinVar dbSNP gnomAD v4 |
X | g.108668332T>G | CA413848377 | COL4A5 | c.3618T>G (p.Asp1206Glu) c.3294T>G (p.Asp1098Glu) c.1191T>G (p.Asp397Glu) c.3633T>G (p.Asp1211Glu) c.1953T>G (p.Asp651Glu) | |
X | g.108668332_108668336del | CA891843683 | COL4A5 | c.3618_3622del (p.Asp1206GlufsTer?) c.3294_3298del (p.Asp1098GlufsTer?) c.1191_1195del (p.Asp397GlufsTer?) c.3633_3637del (p.Asp1211GlufsTer?) c.1953_1957del (p.Asp651GlufsTer?) | |
X | g.108668333G>A | CA413848379 | COL4A5 | c.3619G>A (p.Gly1207Arg) c.3295G>A (p.Gly1099Arg) c.1192G>A (p.Gly398Arg) c.3634G>A (p.Gly1212Arg) c.1954G>A (p.Gly652Arg) | |
X | g.108668333G>C | CA413848380 | COL4A5 | c.3619G>C (p.Gly1207Arg) c.3295G>C (p.Gly1099Arg) c.1192G>C (p.Gly398Arg) c.3634G>C (p.Gly1212Arg) c.1954G>C (p.Gly652Arg) | |
X | g.108668333G= | CA2450712919 | COL4A5 | c.3619G= (p.Gly1207=) c.3295G= (p.Gly1099=) c.1192G= (p.Gly398=) c.3634G= (p.Gly1212=) c.1954G= (p.Gly652=) | |
X | g.108668333G>T | CA413848382 | COL4A5 | c.3619G>T (p.Gly1207Ter) c.3295G>T (p.Gly1099Ter) c.1192G>T (p.Gly398Ter) c.3634G>T (p.Gly1212Ter) c.1954G>T (p.Gly652Ter) | ClinVar dbSNP |
X | g.108668334G>A | CA413848384 | COL4A5 | c.3620G>A (p.Gly1207Glu) c.3296G>A (p.Gly1099Glu) c.1193G>A (p.Gly398Glu) c.3635G>A (p.Gly1212Glu) c.1955G>A (p.Gly652Glu) | COSMIC COSMIC |
X | g.108668334G>C | CA413848386 | COL4A5 | c.3620G>C (p.Gly1207Ala) c.3296G>C (p.Gly1099Ala) c.1193G>C (p.Gly398Ala) c.3635G>C (p.Gly1212Ala) c.1955G>C (p.Gly652Ala) | |
X | g.108668334G>T | CA413848388 | COL4A5 | c.3620G>T (p.Gly1207Val) c.3296G>T (p.Gly1099Val) c.1193G>T (p.Gly398Val) c.3635G>T (p.Gly1212Val) c.1955G>T (p.Gly652Val) | |
X | g.108668335A>C | CA517922552 | COL4A5 | c.3621A>C (p.Gly1207=) c.3297A>C (p.Gly1099=) c.1194A>C (p.Gly398=) c.3636A>C (p.Gly1212=) c.1956A>C (p.Gly652=) | |
X | g.108668335A>G | CA517922553 | COL4A5 | c.3621A>G (p.Gly1207=) c.3297A>G (p.Gly1099=) c.1194A>G (p.Gly398=) c.3636A>G (p.Gly1212=) c.1956A>G (p.Gly652=) | ClinVar dbSNP gnomAD v4 |
X | g.108668335A>T | CA517922554 | COL4A5 | c.3621A>T (p.Gly1207=) c.3297A>T (p.Gly1099=) c.1194A>T (p.Gly398=) c.3636A>T (p.Gly1212=) c.1956A>T (p.Gly652=) | |
X | g.108668336G>A | CA413848390 | COL4A5 | c.3622G>A (p.Gly1208Arg) c.3298G>A (p.Gly1100Arg) c.1195G>A (p.Gly399Arg) c.3637G>A (p.Gly1213Arg) c.1957G>A (p.Gly653Arg) | gnomAD v4 |
X | g.108668336G>C | CA413848393 | COL4A5 | c.3622G>C (p.Gly1208Arg) c.3298G>C (p.Gly1100Arg) c.1195G>C (p.Gly399Arg) c.3637G>C (p.Gly1213Arg) c.1957G>C (p.Gly653Arg) | ClinVar |
X | g.108668336G>T | CA413848395 | COL4A5 | c.3622G>T (p.Gly1208Ter) c.3298G>T (p.Gly1100Ter) c.1195G>T (p.Gly399Ter) c.3637G>T (p.Gly1213Ter) c.1957G>T (p.Gly653Ter) | |
X | g.108668337G>A | CA413848399 | COL4A5 | c.3623G>A (p.Gly1208Glu) c.3299G>A (p.Gly1100Glu) c.1196G>A (p.Gly399Glu) c.3638G>A (p.Gly1213Glu) c.1958G>A (p.Gly653Glu) | ClinVar dbSNP COSMIC COSMIC |
X | g.108668337G>C | CA413848401 | COL4A5 | c.3623G>C (p.Gly1208Ala) c.3299G>C (p.Gly1100Ala) c.1196G>C (p.Gly399Ala) c.3638G>C (p.Gly1213Ala) c.1958G>C (p.Gly653Ala) | |
X | g.108668337G= | CA2450712920 | COL4A5 | c.3623G= (p.Gly1208=) c.3299G= (p.Gly1100=) c.1196G= (p.Gly399=) c.3638G= (p.Gly1213=) c.1958G= (p.Gly653=) | |
X | g.108668337G>T | CA413848397 | COL4A5 | c.3623G>T (p.Gly1208Val) c.3299G>T (p.Gly1100Val) c.1196G>T (p.Gly399Val) c.3638G>T (p.Gly1213Val) c.1958G>T (p.Gly653Val) | |
X | g.108668337_108668338del | CA2695235654 | COL4A5 | c.3623_3624del (p.Gly1208ValfsTer?) c.3299_3300del (p.Gly1100ValfsTer?) c.1196_1197del (p.Gly399ValfsTer?) c.3638_3639del (p.Gly1213ValfsTer?) c.1958_1959del (p.Gly653ValfsTer?) | |
X | g.108668338A>C | CA517922555 | COL4A5 | c.3624A>C (p.Gly1208=) c.3300A>C (p.Gly1100=) c.1197A>C (p.Gly399=) c.3639A>C (p.Gly1213=) c.1959A>C (p.Gly653=) | ClinVar |
X | g.108668338A>G | CA517922556 | COL4A5 | c.3624A>G (p.Gly1208=) c.3300A>G (p.Gly1100=) c.1197A>G (p.Gly399=) c.3639A>G (p.Gly1213=) c.1959A>G (p.Gly653=) | |
X | g.108668338A>T | CA517922557 | COL4A5 | c.3624A>T (p.Gly1208=) c.3300A>T (p.Gly1100=) c.1197A>T (p.Gly399=) c.3639A>T (p.Gly1213=) c.1959A>T (p.Gly653=) | |
X | g.108668339T>A | CA413848404 | COL4A5 | c.3625T>A (p.Leu1209Ile) c.3301T>A (p.Leu1101Ile) c.1198T>A (p.Leu400Ile) c.3640T>A (p.Leu1214Ile) c.1960T>A (p.Leu654Ile) | |
X | g.108668339T>C | CA517922558 | COL4A5 | c.3625T>C (p.Leu1209=) c.3301T>C (p.Leu1101=) c.1198T>C (p.Leu400=) c.3640T>C (p.Leu1214=) c.1960T>C (p.Leu654=) | |
X | g.108668339T>G | CA413848406 | COL4A5 | c.3625T>G (p.Leu1209Val) c.3301T>G (p.Leu1101Val) c.1198T>G (p.Leu400Val) c.3640T>G (p.Leu1214Val) c.1960T>G (p.Leu654Val) | |
X | g.108668340T>A | CA413848408 | COL4A5 | c.3626T>A (p.Leu1209Ter) c.3302T>A (p.Leu1101Ter) c.1199T>A (p.Leu400Ter) c.3641T>A (p.Leu1214Ter) c.1961T>A (p.Leu654Ter) | |
X | g.108668340T>C | CA413848410 | COL4A5 | c.3626T>C (p.Leu1209Ser) c.3302T>C (p.Leu1101Ser) c.1199T>C (p.Leu400Ser) c.3641T>C (p.Leu1214Ser) c.1961T>C (p.Leu654Ser) | |
X | g.108668340T>G | CA413848413 | COL4A5 | c.3626T>G (p.Leu1209Ter) c.3302T>G (p.Leu1101Ter) c.1199T>G (p.Leu400Ter) c.3641T>G (p.Leu1214Ter) c.1961T>G (p.Leu654Ter) | |
X | g.108668341A>C | CA413848415 | COL4A5 | c.3627A>C (p.Leu1209Phe) c.3303A>C (p.Leu1101Phe) c.1200A>C (p.Leu400Phe) c.3642A>C (p.Leu1214Phe) c.1962A>C (p.Leu654Phe) | |
X | g.108668341A>G | CA517922559 | COL4A5 | c.3627A>G (p.Leu1209=) c.3303A>G (p.Leu1101=) c.1200A>G (p.Leu400=) c.3642A>G (p.Leu1214=) c.1962A>G (p.Leu654=) | COSMIC COSMIC |
X | g.108668341A>T | CA413848417 | COL4A5 | c.3627A>T (p.Leu1209Phe) c.3303A>T (p.Leu1101Phe) c.1200A>T (p.Leu400Phe) c.3642A>T (p.Leu1214Phe) c.1962A>T (p.Leu654Phe) | |
X | g.108668342C>A | CA413848420 | COL4A5 | c.3628C>A (p.Pro1210Thr) c.3304C>A (p.Pro1102Thr) c.1201C>A (p.Pro401Thr) c.3643C>A (p.Pro1215Thr) c.1963C>A (p.Pro655Thr) | COSMIC COSMIC |
X | g.108668342C= | CA2450712921 | COL4A5 | c.3628C= (p.Pro1210=) c.3304C= (p.Pro1102=) c.1201C= (p.Pro401=) c.3643C= (p.Pro1215=) c.1963C= (p.Pro655=) | |
X | g.108668342C>G | CA413848422 | COL4A5 | c.3628C>G (p.Pro1210Ala) c.3304C>G (p.Pro1102Ala) c.1201C>G (p.Pro401Ala) c.3643C>G (p.Pro1215Ala) c.1963C>G (p.Pro655Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668342C>T | CA413848424 | COL4A5 | c.3628C>T (p.Pro1210Ser) c.3304C>T (p.Pro1102Ser) c.1201C>T (p.Pro401Ser) c.3643C>T (p.Pro1215Ser) c.1963C>T (p.Pro655Ser) | |
X | g.108668343C>A | CA413848426 | COL4A5 | c.3629C>A (p.Pro1210His) c.3305C>A (p.Pro1102His) c.1202C>A (p.Pro401His) c.3644C>A (p.Pro1215His) c.1964C>A (p.Pro655His) | |
X | g.108668343C= | CA2450712922 | COL4A5 | c.3629C= (p.Pro1210=) c.3305C= (p.Pro1102=) c.1202C= (p.Pro401=) c.3644C= (p.Pro1215=) c.1964C= (p.Pro655=) | |
X | g.108668343C>G | CA413848428 | COL4A5 | c.3629C>G (p.Pro1210Arg) c.3305C>G (p.Pro1102Arg) c.1202C>G (p.Pro401Arg) c.3644C>G (p.Pro1215Arg) c.1964C>G (p.Pro655Arg) | |
X | g.108668343C>T | CA413848429 | COL4A5 | c.3629C>T (p.Pro1210Leu) c.3305C>T (p.Pro1102Leu) c.1202C>T (p.Pro401Leu) c.3644C>T (p.Pro1215Leu) c.1964C>T (p.Pro655Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668344T>A | CA517922560 | COL4A5 | c.3630T>A (p.Pro1210=) c.3306T>A (p.Pro1102=) c.1203T>A (p.Pro401=) c.3645T>A (p.Pro1215=) c.1965T>A (p.Pro655=) | |
X | g.108668344T>C | CA517922561 | COL4A5 | c.3630T>C (p.Pro1210=) c.3306T>C (p.Pro1102=) c.1203T>C (p.Pro401=) c.3645T>C (p.Pro1215=) c.1965T>C (p.Pro655=) | |
X | g.108668344T>G | CA517922562 | COL4A5 | c.3630T>G (p.Pro1210=) c.3306T>G (p.Pro1102=) c.1203T>G (p.Pro401=) c.3645T>G (p.Pro1215=) c.1965T>G (p.Pro655=) | |
X | g.108668345G>A | CA413848431 | COL4A5 | c.3631G>A (p.Gly1211Arg) c.3307G>A (p.Gly1103Arg) c.1204G>A (p.Gly402Arg) c.3646G>A (p.Gly1216Arg) c.1966G>A (p.Gly656Arg) | |
X | g.108668345G>C | CA258912 | COL4A5 | c.3631G>C (p.Gly1211Arg) c.3307G>C (p.Gly1103Arg) c.1204G>C (p.Gly402Arg) c.3646G>C (p.Gly1216Arg) c.1966G>C (p.Gly656Arg) | dbSNP |
X | g.108668345G= | CA2450712923 | COL4A5 | c.3631G= (p.Gly1211=) c.3307G= (p.Gly1103=) c.1204G= (p.Gly402=) c.3646G= (p.Gly1216=) c.1966G= (p.Gly656=) | |
X | g.108668345G>T | CA413848430 | COL4A5 | c.3631G>T (p.Gly1211Trp) c.3307G>T (p.Gly1103Trp) c.1204G>T (p.Gly402Trp) c.3646G>T (p.Gly1216Trp) c.1966G>T (p.Gly656Trp) | |
X | g.108668346G>A | CA258914 | COL4A5 | c.3632G>A (p.Gly1211Glu) c.3308G>A (p.Gly1103Glu) c.1205G>A (p.Gly402Glu) c.3647G>A (p.Gly1216Glu) c.1967G>A (p.Gly656Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108668346G>C | CA413848433 | COL4A5 | c.3632G>C (p.Gly1211Ala) c.3308G>C (p.Gly1103Ala) c.1205G>C (p.Gly402Ala) c.3647G>C (p.Gly1216Ala) c.1967G>C (p.Gly656Ala) | |
X | g.108668346G= | CA2450712924 | COL4A5 | c.3632G= (p.Gly1211=) c.3308G= (p.Gly1103=) c.1205G= (p.Gly402=) c.3647G= (p.Gly1216=) c.1967G= (p.Gly656=) | |
X | g.108668346G>T | CA413848435 | COL4A5 | c.3632G>T (p.Gly1211Val) c.3308G>T (p.Gly1103Val) c.1205G>T (p.Gly402Val) c.3647G>T (p.Gly1216Val) c.1967G>T (p.Gly656Val) | |
X | g.108668347G>A | CA517922565 | COL4A5 | c.3633G>A (p.Gly1211=) c.3309G>A (p.Gly1103=) c.1206G>A (p.Gly402=) c.3648G>A (p.Gly1216=) c.1968G>A (p.Gly656=) | |
X | g.108668347G>C | CA517922564 | COL4A5 | c.3633G>C (p.Gly1211=) c.3309G>C (p.Gly1103=) c.1206G>C (p.Gly402=) c.3648G>C (p.Gly1216=) c.1968G>C (p.Gly656=) | |
X | g.108668347G>T | CA517922563 | COL4A5 | c.3633G>T (p.Gly1211=) c.3309G>T (p.Gly1103=) c.1206G>T (p.Gly402=) c.3648G>T (p.Gly1216=) c.1968G>T (p.Gly656=) | |
X | g.108668348A>C | CA413848437 | COL4A5 | c.3634A>C (p.Ile1212Leu) c.3310A>C (p.Ile1104Leu) c.1207A>C (p.Ile403Leu) c.3649A>C (p.Ile1217Leu) c.1969A>C (p.Ile657Leu) | |
X | g.108668348A>G | CA413848439 | COL4A5 | c.3634A>G (p.Ile1212Val) c.3310A>G (p.Ile1104Val) c.1207A>G (p.Ile403Val) c.3649A>G (p.Ile1217Val) c.1969A>G (p.Ile657Val) | |
X | g.108668348A>T | CA413848440 | COL4A5 | c.3634A>T (p.Ile1212Phe) c.3310A>T (p.Ile1104Phe) c.1207A>T (p.Ile403Phe) c.3649A>T (p.Ile1217Phe) c.1969A>T (p.Ile657Phe) | |
X | g.108668348dup | CA2573055065 | COL4A5 | c.3634dup (p.Ile1212AsnfsTer?) c.3310dup (p.Ile1104AsnfsTer?) c.1207dup (p.Ile403AsnfsTer?) c.3649dup (p.Ile1217AsnfsTer?) c.1969dup (p.Ile657AsnfsTer?) | ClinVar dbSNP |
X | g.108668349T>A | CA413848444 | COL4A5 | c.3635T>A (p.Ile1212Asn) c.3311T>A (p.Ile1104Asn) c.1208T>A (p.Ile403Asn) c.3650T>A (p.Ile1217Asn) c.1970T>A (p.Ile657Asn) | |
X | g.108668349T>C | CA413848446 | COL4A5 | c.3635T>C (p.Ile1212Thr) c.3311T>C (p.Ile1104Thr) c.1208T>C (p.Ile403Thr) c.3650T>C (p.Ile1217Thr) c.1970T>C (p.Ile657Thr) | |
X | g.108668349T>G | CA413848448 | COL4A5 | c.3635T>G (p.Ile1212Ser) c.3311T>G (p.Ile1104Ser) c.1208T>G (p.Ile403Ser) c.3650T>G (p.Ile1217Ser) c.1970T>G (p.Ile657Ser) | |
X | g.108668350T>A | CA517922566 | COL4A5 | c.3636T>A (p.Ile1212=) c.3312T>A (p.Ile1104=) c.1209T>A (p.Ile403=) c.3651T>A (p.Ile1217=) c.1971T>A (p.Ile657=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108668350T>C | CA517922567 | COL4A5 | c.3636T>C (p.Ile1212=) c.3312T>C (p.Ile1104=) c.1209T>C (p.Ile403=) c.3651T>C (p.Ile1217=) c.1971T>C (p.Ile657=) | |
X | g.108668350T>G | CA413848450 | COL4A5 | c.3636T>G (p.Ile1212Met) c.3312T>G (p.Ile1104Met) c.1209T>G (p.Ile403Met) c.3651T>G (p.Ile1217Met) c.1971T>G (p.Ile657Met) | |
X | g.108668350T= | CA2450712925 | COL4A5 | c.3636T= (p.Ile1212=) c.3312T= (p.Ile1104=) c.1209T= (p.Ile403=) c.3651T= (p.Ile1217=) c.1971T= (p.Ile657=) | |
X | g.108668351C>A | CA413848452 | COL4A5 | c.3637C>A (p.Pro1213Thr) c.3313C>A (p.Pro1105Thr) c.1210C>A (p.Pro404Thr) c.3652C>A (p.Pro1218Thr) c.1972C>A (p.Pro658Thr) | gnomAD v4 |
X | g.108668351C= | CA2450712926 | COL4A5 | c.3637C= (p.Pro1213=) c.3313C= (p.Pro1105=) c.1210C= (p.Pro404=) c.3652C= (p.Pro1218=) c.1972C= (p.Pro658=) | |
X | g.108668351C>G | CA413848454 | COL4A5 | c.3637C>G (p.Pro1213Ala) c.3313C>G (p.Pro1105Ala) c.1210C>G (p.Pro404Ala) c.3652C>G (p.Pro1218Ala) c.1972C>G (p.Pro658Ala) | |
X | g.108668351C>T | CA334046734 | COL4A5 | c.3637C>T (p.Pro1213Ser) c.3313C>T (p.Pro1105Ser) c.1210C>T (p.Pro404Ser) c.3652C>T (p.Pro1218Ser) c.1972C>T (p.Pro658Ser) | dbSNP |
X | g.108668352C>A | CA413848456 | COL4A5 | c.3638C>A (p.Pro1213Gln) c.3314C>A (p.Pro1105Gln) c.1211C>A (p.Pro404Gln) c.3653C>A (p.Pro1218Gln) c.1973C>A (p.Pro658Gln) | |
X | g.108668352C= | CA2450712927 | COL4A5 | c.3638C= (p.Pro1213=) c.3314C= (p.Pro1105=) c.1211C= (p.Pro404=) c.3653C= (p.Pro1218=) c.1973C= (p.Pro658=) | |
X | g.108668352C>G | CA413848460 | COL4A5 | c.3638C>G (p.Pro1213Arg) c.3314C>G (p.Pro1105Arg) c.1211C>G (p.Pro404Arg) c.3653C>G (p.Pro1218Arg) c.1973C>G (p.Pro658Arg) | |
X | g.108668352C>T | CA334046735 | COL4A5 | c.3638C>T (p.Pro1213Leu) c.3314C>T (p.Pro1105Leu) c.1211C>T (p.Pro404Leu) c.3653C>T (p.Pro1218Leu) c.1973C>T (p.Pro658Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668353A>C | CA517922568 | COL4A5 | c.3639A>C (p.Pro1213=) c.3315A>C (p.Pro1105=) c.1212A>C (p.Pro404=) c.3654A>C (p.Pro1218=) c.1974A>C (p.Pro658=) | gnomAD v4 |
X | g.108668353A>G | CA517922569 | COL4A5 | c.3639A>G (p.Pro1213=) c.3315A>G (p.Pro1105=) c.1212A>G (p.Pro404=) c.3654A>G (p.Pro1218=) c.1974A>G (p.Pro658=) | gnomAD v4 |
X | g.108668353A>T | CA517922570 | COL4A5 | c.3639A>T (p.Pro1213=) c.3315A>T (p.Pro1105=) c.1212A>T (p.Pro404=) c.3654A>T (p.Pro1218=) c.1974A>T (p.Pro658=) | |
X | g.108668354G>A | CA413848463 | COL4A5 | c.3640G>A (p.Gly1214Arg) c.3316G>A (p.Gly1106Arg) c.1213G>A (p.Gly405Arg) c.3655G>A (p.Gly1219Arg) c.1975G>A (p.Gly659Arg) | ClinVar dbSNP |
X | g.108668354G>C | CA413848465 | COL4A5 | c.3640G>C (p.Gly1214Arg) c.3316G>C (p.Gly1106Arg) c.1213G>C (p.Gly405Arg) c.3655G>C (p.Gly1219Arg) c.1975G>C (p.Gly659Arg) | |
X | g.108668354G>T | CA413848464 | COL4A5 | c.3640G>T (p.Gly1214Ter) c.3316G>T (p.Gly1106Ter) c.1213G>T (p.Gly405Ter) c.3655G>T (p.Gly1219Ter) c.1975G>T (p.Gly659Ter) | |
X | g.108668355G>A | CA258916 | COL4A5 | c.3641G>A (p.Gly1214Glu) c.3317G>A (p.Gly1106Glu) c.1214G>A (p.Gly405Glu) c.3656G>A (p.Gly1219Glu) c.1976G>A (p.Gly659Glu) | dbSNP |
X | g.108668355G>C | CA413848470 | COL4A5 | c.3641G>C (p.Gly1214Ala) c.3317G>C (p.Gly1106Ala) c.1214G>C (p.Gly405Ala) c.3656G>C (p.Gly1219Ala) c.1976G>C (p.Gly659Ala) | |
X | g.108668355G= | CA2450712928 | COL4A5 | c.3641G= (p.Gly1214=) c.3317G= (p.Gly1106=) c.1214G= (p.Gly405=) c.3656G= (p.Gly1219=) c.1976G= (p.Gly659=) | |
X | g.108668355G>T | CA413848468 | COL4A5 | c.3641G>T (p.Gly1214Val) c.3317G>T (p.Gly1106Val) c.1214G>T (p.Gly405Val) c.3656G>T (p.Gly1219Val) c.1976G>T (p.Gly659Val) | |
X | g.108668356A>C | CA517922571 | COL4A5 | c.3642A>C (p.Gly1214=) c.3318A>C (p.Gly1106=) c.1215A>C (p.Gly405=) c.3657A>C (p.Gly1219=) c.1977A>C (p.Gly659=) | |
X | g.108668356A>G | CA517922572 | COL4A5 | c.3642A>G (p.Gly1214=) c.3318A>G (p.Gly1106=) c.1215A>G (p.Gly405=) c.3657A>G (p.Gly1219=) c.1977A>G (p.Gly659=) | |
X | g.108668356A>T | CA517922573 | COL4A5 | c.3642A>T (p.Gly1214=) c.3318A>T (p.Gly1106=) c.1215A>T (p.Gly405=) c.3657A>T (p.Gly1219=) c.1977A>T (p.Gly659=) | |
X | g.108668357A= | CA2450712929 | COL4A5 | c.3643A= (p.Asn1215=) c.3319A= (p.Asn1107=) c.1216A= (p.Asn406=) c.3658A= (p.Asn1220=) c.1978A= (p.Asn660=) | |
X | g.108668357A>C | CA413848473 | COL4A5 | c.3643A>C (p.Asn1215His) c.3319A>C (p.Asn1107His) c.1216A>C (p.Asn406His) c.3658A>C (p.Asn1220His) c.1978A>C (p.Asn660His) | |
X | g.108668357A>G | CA413848476 | COL4A5 | c.3643A>G (p.Asn1215Asp) c.3319A>G (p.Asn1107Asp) c.1216A>G (p.Asn406Asp) c.3658A>G (p.Asn1220Asp) c.1978A>G (p.Asn660Asp) | dbSNP |
X | g.108668357A>T | CA413848474 | COL4A5 | c.3643A>T (p.Asn1215Tyr) c.3319A>T (p.Asn1107Tyr) c.1216A>T (p.Asn406Tyr) c.3658A>T (p.Asn1220Tyr) c.1978A>T (p.Asn660Tyr) | |
X | g.108668358A>C | CA413848479 | COL4A5 | c.3644A>C (p.Asn1215Thr) c.3320A>C (p.Asn1107Thr) c.1217A>C (p.Asn406Thr) c.3659A>C (p.Asn1220Thr) c.1979A>C (p.Asn660Thr) | |
X | g.108668358A>G | CA413848480 | COL4A5 | c.3644A>G (p.Asn1215Ser) c.3320A>G (p.Asn1107Ser) c.1217A>G (p.Asn406Ser) c.3659A>G (p.Asn1220Ser) c.1979A>G (p.Asn660Ser) | |
X | g.108668358A>T | CA413848483 | COL4A5 | c.3644A>T (p.Asn1215Ile) c.3320A>T (p.Asn1107Ile) c.1217A>T (p.Asn406Ile) c.3659A>T (p.Asn1220Ile) c.1979A>T (p.Asn660Ile) | |
X | g.108668359T>A | CA413848485 | COL4A5 | c.3645T>A (p.Asn1215Lys) c.3321T>A (p.Asn1107Lys) c.1218T>A (p.Asn406Lys) c.3660T>A (p.Asn1220Lys) c.1980T>A (p.Asn660Lys) | |
X | g.108668359T>C | CA517922574 | COL4A5 | c.3645T>C (p.Asn1215=) c.3321T>C (p.Asn1107=) c.1218T>C (p.Asn406=) c.3660T>C (p.Asn1220=) c.1980T>C (p.Asn660=) | |
X | g.108668359T>G | CA413848486 | COL4A5 | c.3645T>G (p.Asn1215Lys) c.3321T>G (p.Asn1107Lys) c.1218T>G (p.Asn406Lys) c.3660T>G (p.Asn1220Lys) c.1980T>G (p.Asn660Lys) | |
X | g.108668359_108668360delinsTC | CA2450712930 | COL4A5 | c.3645_3646delinsTC (p.Asn1215=) c.3321_3322delinsTC (p.Asn1107=) c.1218_1219delinsTC (p.Asn406=) c.3660_3661delinsTC (p.Asn1220=) c.1980_1981delinsTC (p.Asn660=) | |
X | g.108668360C>A | CA413848489 | COL4A5 | c.3646C>A (p.Pro1216Thr) c.3322C>A (p.Pro1108Thr) c.1219C>A (p.Pro407Thr) c.3661C>A (p.Pro1221Thr) c.1981C>A (p.Pro661Thr) | |
X | g.108668360C= | CA2450712931 | COL4A5 | c.3646C= (p.Pro1216=) c.3322C= (p.Pro1108=) c.1219C= (p.Pro407=) c.3661C= (p.Pro1221=) c.1981C= (p.Pro661=) | |
X | g.108668360C>G | CA413848491 | COL4A5 | c.3646C>G (p.Pro1216Ala) c.3322C>G (p.Pro1108Ala) c.1219C>G (p.Pro407Ala) c.3661C>G (p.Pro1221Ala) c.1981C>G (p.Pro661Ala) | |
X | g.108668360C>T | CA10489156 | COL4A5 | c.3646C>T (p.Pro1216Ser) c.3322C>T (p.Pro1108Ser) c.1219C>T (p.Pro407Ser) c.3661C>T (p.Pro1221Ser) c.1981C>T (p.Pro661Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108668361del | CA258919 | COL4A5 | c.3647del (p.Pro1216LeufsTer?) c.3323del (p.Pro1108LeufsTer?) c.1220del (p.Pro407LeufsTer?) c.3662del (p.Pro1221LeufsTer?) c.1982del (p.Pro661LeufsTer?) | dbSNP |
X | g.108668361C>A | CA413848495 | COL4A5 | c.3647C>A (p.Pro1216His) c.3323C>A (p.Pro1108His) c.1220C>A (p.Pro407His) c.3662C>A (p.Pro1221His) c.1982C>A (p.Pro661His) | |
X | g.108668361C= | CA2450712932 | COL4A5 | c.3647C= (p.Pro1216=) c.3323C= (p.Pro1108=) c.1220C= (p.Pro407=) c.3662C= (p.Pro1221=) c.1982C= (p.Pro661=) | |
X | g.108668361C>G | CA413848497 | COL4A5 | c.3647C>G (p.Pro1216Arg) c.3323C>G (p.Pro1108Arg) c.1220C>G (p.Pro407Arg) c.3662C>G (p.Pro1221Arg) c.1982C>G (p.Pro661Arg) | |
X | g.108668361C>T | CA413848499 | COL4A5 | c.3647C>T (p.Pro1216Leu) c.3323C>T (p.Pro1108Leu) c.1220C>T (p.Pro407Leu) c.3662C>T (p.Pro1221Leu) c.1982C>T (p.Pro661Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668362T>A | CA517922575 | COL4A5 | c.3648T>A (p.Pro1216=) c.3324T>A (p.Pro1108=) c.1221T>A (p.Pro407=) c.3663T>A (p.Pro1221=) c.1983T>A (p.Pro661=) | |
X | g.108668362T>C | CA517922576 | COL4A5 | c.3648T>C (p.Pro1216=) c.3324T>C (p.Pro1108=) c.1221T>C (p.Pro407=) c.3663T>C (p.Pro1221=) c.1983T>C (p.Pro661=) | |
X | g.108668362T>G | CA517922577 | COL4A5 | c.3648T>G (p.Pro1216=) c.3324T>G (p.Pro1108=) c.1221T>G (p.Pro407=) c.3663T>G (p.Pro1221=) c.1983T>G (p.Pro661=) | |
X | g.108668363G>A | CA413848501 | COL4A5 | c.3649G>A (p.Gly1217Ser) c.3325G>A (p.Gly1109Ser) c.1222G>A (p.Gly408Ser) c.3664G>A (p.Gly1222Ser) c.1984G>A (p.Gly662Ser) | |
X | g.108668363G>C | CA413848504 | COL4A5 | c.3649G>C (p.Gly1217Arg) c.3325G>C (p.Gly1109Arg) c.1222G>C (p.Gly408Arg) c.3664G>C (p.Gly1222Arg) c.1984G>C (p.Gly662Arg) | |
X | g.108668363G>T | CA413848502 | COL4A5 | c.3649G>T (p.Gly1217Cys) c.3325G>T (p.Gly1109Cys) c.1222G>T (p.Gly408Cys) c.3664G>T (p.Gly1222Cys) c.1984G>T (p.Gly662Cys) | |
X | g.108668364G>A | CA413848506 | COL4A5 | c.3650G>A (p.Gly1217Asp) c.3326G>A (p.Gly1109Asp) c.1223G>A (p.Gly408Asp) c.3665G>A (p.Gly1222Asp) c.1985G>A (p.Gly662Asp) | ClinVar |
X | g.108668364G>C | CA413848508 | COL4A5 | c.3650G>C (p.Gly1217Ala) c.3326G>C (p.Gly1109Ala) c.1223G>C (p.Gly408Ala) c.3665G>C (p.Gly1222Ala) c.1985G>C (p.Gly662Ala) | |
X | g.108668364G= | CA2450712933 | COL4A5 | c.3650G= (p.Gly1217=) c.3326G= (p.Gly1109=) c.1223G= (p.Gly408=) c.3665G= (p.Gly1222=) c.1985G= (p.Gly662=) | |
X | g.108668364G>T | CA413848510 | COL4A5 | c.3650G>T (p.Gly1217Val) c.3326G>T (p.Gly1109Val) c.1223G>T (p.Gly408Val) c.3665G>T (p.Gly1222Val) c.1985G>T (p.Gly662Val) | |
X | g.108668365C>A | CA517922578 | COL4A5 | c.3651C>A (p.Gly1217=) c.3327C>A (p.Gly1109=) c.1224C>A (p.Gly408=) c.3666C>A (p.Gly1222=) c.1986C>A (p.Gly662=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108668365C= | CA2450712934 | COL4A5 | c.3651C= (p.Gly1217=) c.3327C= (p.Gly1109=) c.1224C= (p.Gly408=) c.3666C= (p.Gly1222=) c.1986C= (p.Gly662=) | |
X | g.108668365C>G | CA517922579 | COL4A5 | c.3651C>G (p.Gly1217=) c.3327C>G (p.Gly1109=) c.1224C>G (p.Gly408=) c.3666C>G (p.Gly1222=) c.1986C>G (p.Gly662=) | |
X | g.108668365C>T | CA517922580 | COL4A5 | c.3651C>T (p.Gly1217=) c.3327C>T (p.Gly1109=) c.1224C>T (p.Gly408=) c.3666C>T (p.Gly1222=) c.1986C>T (p.Gly662=) | |
X | g.108668366C>A | CA413848512 | COL4A5 | c.3652C>A (p.Leu1218Ile) c.3328C>A (p.Leu1110Ile) c.1225C>A (p.Leu409Ile) c.3667C>A (p.Leu1223Ile) c.1987C>A (p.Leu663Ile) | |
X | g.108668366C>G | CA413848514 | COL4A5 | c.3652C>G (p.Leu1218Val) c.3328C>G (p.Leu1110Val) c.1225C>G (p.Leu409Val) c.3667C>G (p.Leu1223Val) c.1987C>G (p.Leu663Val) | |
X | g.108668366C>T | CA413848516 | COL4A5 | c.3652C>T (p.Leu1218Phe) c.3328C>T (p.Leu1110Phe) c.1225C>T (p.Leu409Phe) c.3667C>T (p.Leu1223Phe) c.1987C>T (p.Leu663Phe) | ClinVar dbSNP |
X | g.108668369_108668394del | CA2697544720 | COL4A5 | c.3655_3680del (p.Pro1219SerfsTer24) c.3331_3356del (p.Pro1111SerfsTer24) c.1228_1253del (p.Pro410SerfsTer24) c.3670_3695del (p.Pro1224SerfsTer24) c.1990_2015del (p.Pro664SerfsTer24) | ClinVar |
X | g.108668367T>A | CA413848520 | COL4A5 | c.3653T>A (p.Leu1218His) c.3329T>A (p.Leu1110His) c.1226T>A (p.Leu409His) c.3668T>A (p.Leu1223His) c.1988T>A (p.Leu663His) | |
X | g.108668367T>C | CA413848522 | COL4A5 | c.3653T>C (p.Leu1218Pro) c.3329T>C (p.Leu1110Pro) c.1226T>C (p.Leu409Pro) c.3668T>C (p.Leu1223Pro) c.1988T>C (p.Leu663Pro) | |
X | g.108668367T>G | CA413848523 | COL4A5 | c.3653T>G (p.Leu1218Arg) c.3329T>G (p.Leu1110Arg) c.1226T>G (p.Leu409Arg) c.3668T>G (p.Leu1223Arg) c.1988T>G (p.Leu663Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668367T= | CA2450712936 | COL4A5 | c.3653T= (p.Leu1218=) c.3329T= (p.Leu1110=) c.1226T= (p.Leu409=) c.3668T= (p.Leu1223=) c.1988T= (p.Leu663=) | |
X | g.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC | CA2450712935 | COL4A5 | c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=) c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=) c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=) c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=) c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=) | |
X | g.108668368T>A | CA517922643 | COL4A5 | c.3654T>A (p.Leu1218=) c.3330T>A (p.Leu1110=) c.1227T>A (p.Leu409=) c.3669T>A (p.Leu1223=) c.1989T>A (p.Leu663=) | |
X | g.108668368T>C | CA517922645 | COL4A5 | c.3654T>C (p.Leu1218=) c.3330T>C (p.Leu1110=) c.1227T>C (p.Leu409=) c.3669T>C (p.Leu1223=) c.1989T>C (p.Leu663=) | |
X | g.108668368T>G | CA517922646 | COL4A5 | c.3654T>G (p.Leu1218=) c.3330T>G (p.Leu1110=) c.1227T>G (p.Leu409=) c.3669T>G (p.Leu1223=) c.1989T>G (p.Leu663=) | |
X | g.108668371_108668442del | CA258920 | COL4A5 | c.3657_3728del (p.Gly1220_Pro1243del) c.3333_3404del (p.Gly1112_Pro1135del) c.1230_1301del (p.Gly411_Pro434del) c.3672_3743del (p.Gly1225_Pro1248del) c.1992_2063del (p.Gly665_Pro688del) | dbSNP |
X | g.108668369C>A | CA413848529 | COL4A5 | c.3655C>A (p.Pro1219Thr) c.3331C>A (p.Pro1111Thr) c.1228C>A (p.Pro410Thr) c.3670C>A (p.Pro1224Thr) c.1990C>A (p.Pro664Thr) | |
X | g.108668369C>G | CA413848531 | COL4A5 | c.3655C>G (p.Pro1219Ala) c.3331C>G (p.Pro1111Ala) c.1228C>G (p.Pro410Ala) c.3670C>G (p.Pro1224Ala) c.1990C>G (p.Pro664Ala) | |
X | g.108668369C>T | CA413848527 | COL4A5 | c.3655C>T (p.Pro1219Ser) c.3331C>T (p.Pro1111Ser) c.1228C>T (p.Pro410Ser) c.3670C>T (p.Pro1224Ser) c.1990C>T (p.Pro664Ser) | COSMIC COSMIC |
X | g.108668370del | CA2579676917 | COL4A5 | c.3656del (p.Pro1219GlnfsTer?) c.3332del (p.Pro1111GlnfsTer?) c.1229del (p.Pro410GlnfsTer?) c.3671del (p.Pro1224GlnfsTer?) c.1991del (p.Pro664GlnfsTer?) | |
X | g.108668370C>A | CA413848533 | COL4A5 | c.3656C>A (p.Pro1219Gln) c.3332C>A (p.Pro1111Gln) c.1229C>A (p.Pro410Gln) c.3671C>A (p.Pro1224Gln) c.1991C>A (p.Pro664Gln) | |
X | g.108668370C>G | CA413848535 | COL4A5 | c.3656C>G (p.Pro1219Arg) c.3332C>G (p.Pro1111Arg) c.1229C>G (p.Pro410Arg) c.3671C>G (p.Pro1224Arg) c.1991C>G (p.Pro664Arg) | |
X | g.108668370C>T | CA413848538 | COL4A5 | c.3656C>T (p.Pro1219Leu) c.3332C>T (p.Pro1111Leu) c.1229C>T (p.Pro410Leu) c.3671C>T (p.Pro1224Leu) c.1991C>T (p.Pro664Leu) | ClinVar COSMIC COSMIC |
X | g.108668371A>C | CA517922650 | COL4A5 | c.3657A>C (p.Pro1219=) c.3333A>C (p.Pro1111=) c.1230A>C (p.Pro410=) c.3672A>C (p.Pro1224=) c.1992A>C (p.Pro664=) | |
X | g.108668371A>G | CA517922652 | COL4A5 | c.3657A>G (p.Pro1219=) c.3333A>G (p.Pro1111=) c.1230A>G (p.Pro410=) c.3672A>G (p.Pro1224=) c.1992A>G (p.Pro664=) | COSMIC COSMIC |
X | g.108668371A>T | CA517922654 | COL4A5 | c.3657A>T (p.Pro1219=) c.3333A>T (p.Pro1111=) c.1230A>T (p.Pro410=) c.3672A>T (p.Pro1224=) c.1992A>T (p.Pro664=) | |
X | g.108668372G>A | CA413848541 | COL4A5 | c.3658G>A (p.Gly1220Ser) c.3334G>A (p.Gly1112Ser) c.1231G>A (p.Gly411Ser) c.3673G>A (p.Gly1225Ser) c.1993G>A (p.Gly665Ser) | |
X | g.108668372G>C | CA413848543 | COL4A5 | c.3658G>C (p.Gly1220Arg) c.3334G>C (p.Gly1112Arg) c.1231G>C (p.Gly411Arg) c.3673G>C (p.Gly1225Arg) c.1993G>C (p.Gly665Arg) | |
X | g.108668372G>T | CA413848545 | COL4A5 | c.3658G>T (p.Gly1220Cys) c.3334G>T (p.Gly1112Cys) c.1231G>T (p.Gly411Cys) c.3673G>T (p.Gly1225Cys) c.1993G>T (p.Gly665Cys) | |
X | g.108668373G>A | CA258923 | COL4A5 | c.3659G>A (p.Gly1220Asp) c.3335G>A (p.Gly1112Asp) c.1232G>A (p.Gly411Asp) c.3674G>A (p.Gly1225Asp) c.1994G>A (p.Gly665Asp) | ClinVar dbSNP |
X | g.108668373G>C | CA413848550 | COL4A5 | c.3659G>C (p.Gly1220Ala) c.3335G>C (p.Gly1112Ala) c.1232G>C (p.Gly411Ala) c.3674G>C (p.Gly1225Ala) c.1994G>C (p.Gly665Ala) | |
X | g.108668373G= | CA2450712937 | COL4A5 | c.3659G= (p.Gly1220=) c.3335G= (p.Gly1112=) c.1232G= (p.Gly411=) c.3674G= (p.Gly1225=) c.1994G= (p.Gly665=) | |
X | g.108668373G>T | CA413848553 | COL4A5 | c.3659G>T (p.Gly1220Val) c.3335G>T (p.Gly1112Val) c.1232G>T (p.Gly411Val) c.3674G>T (p.Gly1225Val) c.1994G>T (p.Gly665Val) | ClinVar dbSNP |
X | g.108668374T>A | CA517922656 | COL4A5 | c.3660T>A (p.Gly1220=) c.3336T>A (p.Gly1112=) c.1233T>A (p.Gly411=) c.3675T>A (p.Gly1225=) c.1995T>A (p.Gly665=) | |
X | g.108668374T>C | CA517922658 | COL4A5 | c.3660T>C (p.Gly1220=) c.3336T>C (p.Gly1112=) c.1233T>C (p.Gly411=) c.3675T>C (p.Gly1225=) c.1995T>C (p.Gly665=) | |
X | g.108668374T>G | CA517922660 | COL4A5 | c.3660T>G (p.Gly1220=) c.3336T>G (p.Gly1112=) c.1233T>G (p.Gly411=) c.3675T>G (p.Gly1225=) c.1995T>G (p.Gly665=) | |
X | g.108668375C>A | CA413848555 | COL4A5 | c.3661C>A (p.Pro1221Thr) c.3337C>A (p.Pro1113Thr) c.1234C>A (p.Pro412Thr) c.3676C>A (p.Pro1226Thr) c.1996C>A (p.Pro666Thr) | |
X | g.108668375C>G | CA413848558 | COL4A5 | c.3661C>G (p.Pro1221Ala) c.3337C>G (p.Pro1113Ala) c.1234C>G (p.Pro412Ala) c.3676C>G (p.Pro1226Ala) c.1996C>G (p.Pro666Ala) | |
X | g.108668375C>T | CA413848561 | COL4A5 | c.3661C>T (p.Pro1221Ser) c.3337C>T (p.Pro1113Ser) c.1234C>T (p.Pro412Ser) c.3676C>T (p.Pro1226Ser) c.1996C>T (p.Pro666Ser) | COSMIC COSMIC |
X | g.108668376C>A | CA413848569 | COL4A5 | c.3662C>A (p.Pro1221Gln) c.3338C>A (p.Pro1113Gln) c.1235C>A (p.Pro412Gln) c.3677C>A (p.Pro1226Gln) c.1997C>A (p.Pro666Gln) | |
X | g.108668376C= | CA2450712938 | COL4A5 | c.3662C= (p.Pro1221=) c.3338C= (p.Pro1113=) c.1235C= (p.Pro412=) c.3677C= (p.Pro1226=) c.1997C= (p.Pro666=) | |
X | g.108668376C>G | CA413848564 | COL4A5 | c.3662C>G (p.Pro1221Arg) c.3338C>G (p.Pro1113Arg) c.1235C>G (p.Pro412Arg) c.3677C>G (p.Pro1226Arg) c.1997C>G (p.Pro666Arg) | |
X | g.108668376C>T | CA334046767 | COL4A5 | c.3662C>T (p.Pro1221Leu) c.3338C>T (p.Pro1113Leu) c.1235C>T (p.Pro412Leu) c.3677C>T (p.Pro1226Leu) c.1997C>T (p.Pro666Leu) | dbSNP |
X | g.108668377A>C | CA517922662 | COL4A5 | c.3663A>C (p.Pro1221=) c.3339A>C (p.Pro1113=) c.1236A>C (p.Pro412=) c.3678A>C (p.Pro1226=) c.1998A>C (p.Pro666=) | |
X | g.108668377A>G | CA517922664 | COL4A5 | c.3663A>G (p.Pro1221=) c.3339A>G (p.Pro1113=) c.1236A>G (p.Pro412=) c.3678A>G (p.Pro1226=) c.1998A>G (p.Pro666=) | gnomAD v4 |
X | g.108668377A>T | CA517922666 | COL4A5 | c.3663A>T (p.Pro1221=) c.3339A>T (p.Pro1113=) c.1236A>T (p.Pro412=) c.3678A>T (p.Pro1226=) c.1998A>T (p.Pro666=) | |
X | g.108668378A= | CA2450712939 | COL4A5 | c.3664A= (p.Lys1222=) c.3340A= (p.Lys1114=) c.1237A= (p.Lys413=) c.3679A= (p.Lys1227=) c.1999A= (p.Lys667=) | |
X | g.108668378A>C | CA413848573 | COL4A5 | c.3664A>C (p.Lys1222Gln) c.3340A>C (p.Lys1114Gln) c.1237A>C (p.Lys413Gln) c.3679A>C (p.Lys1227Gln) c.1999A>C (p.Lys667Gln) | gnomAD v4 |
X | g.108668378A>G | CA413848576 | COL4A5 | c.3664A>G (p.Lys1222Glu) c.3340A>G (p.Lys1114Glu) c.1237A>G (p.Lys413Glu) c.3679A>G (p.Lys1227Glu) c.1999A>G (p.Lys667Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108668378A>T | CA413848579 | COL4A5 | c.3664A>T (p.Lys1222Ter) c.3340A>T (p.Lys1114Ter) c.1237A>T (p.Lys413Ter) c.3679A>T (p.Lys1227Ter) c.1999A>T (p.Lys667Ter) | |
X | g.108668379A>C | CA413848582 | COL4A5 | c.3665A>C (p.Lys1222Thr) c.3341A>C (p.Lys1114Thr) c.1238A>C (p.Lys413Thr) c.3680A>C (p.Lys1227Thr) c.2000A>C (p.Lys667Thr) | |
X | g.108668379A>G | CA413848584 | COL4A5 | c.3665A>G (p.Lys1222Arg) c.3341A>G (p.Lys1114Arg) c.1238A>G (p.Lys413Arg) c.3680A>G (p.Lys1227Arg) c.2000A>G (p.Lys667Arg) | |
X | g.108668379A>T | CA413848587 | COL4A5 | c.3665A>T (p.Lys1222Met) c.3341A>T (p.Lys1114Met) c.1238A>T (p.Lys413Met) c.3680A>T (p.Lys1227Met) c.2000A>T (p.Lys667Met) | |
X | g.108668380G>A | CA517922667 | COL4A5 | c.3666G>A (p.Lys1222=) c.3342G>A (p.Lys1114=) c.1239G>A (p.Lys413=) c.3681G>A (p.Lys1227=) c.2001G>A (p.Lys667=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108668380G>C | CA413848591 | COL4A5 | c.3666G>C (p.Lys1222Asn) c.3342G>C (p.Lys1114Asn) c.1239G>C (p.Lys413Asn) c.3681G>C (p.Lys1227Asn) c.2001G>C (p.Lys667Asn) | |
X | g.108668380G= | CA2450712940 | COL4A5 | c.3666G= (p.Lys1222=) c.3342G= (p.Lys1114=) c.1239G= (p.Lys413=) c.3681G= (p.Lys1227=) c.2001G= (p.Lys667=) | |
X | g.108668380G>T | CA413848593 | COL4A5 | c.3666G>T (p.Lys1222Asn) c.3342G>T (p.Lys1114Asn) c.1239G>T (p.Lys413Asn) c.3681G>T (p.Lys1227Asn) c.2001G>T (p.Lys667Asn) | |
X | g.108668381G>A | CA413848597 | COL4A5 | c.3667G>A (p.Gly1223Ser) c.3343G>A (p.Gly1115Ser) c.1240G>A (p.Gly414Ser) c.3682G>A (p.Gly1228Ser) c.2002G>A (p.Gly668Ser) | COSMIC COSMIC |
X | g.108668381G>C | CA413848598 | COL4A5 | c.3667G>C (p.Gly1223Arg) c.3343G>C (p.Gly1115Arg) c.1240G>C (p.Gly414Arg) c.3682G>C (p.Gly1228Arg) c.2002G>C (p.Gly668Arg) | |
X | g.108668381G>T | CA413848601 | COL4A5 | c.3667G>T (p.Gly1223Cys) c.3343G>T (p.Gly1115Cys) c.1240G>T (p.Gly414Cys) c.3682G>T (p.Gly1228Cys) c.2002G>T (p.Gly668Cys) | |
X | g.108668382G>A | CA413848611 | COL4A5 | c.3668G>A (p.Gly1223Asp) c.3344G>A (p.Gly1115Asp) c.1241G>A (p.Gly414Asp) c.3683G>A (p.Gly1228Asp) c.2003G>A (p.Gly668Asp) | ClinVar dbSNP |
X | g.108668382G>C | CA413848607 | COL4A5 | c.3668G>C (p.Gly1223Ala) c.3344G>C (p.Gly1115Ala) c.1241G>C (p.Gly414Ala) c.3683G>C (p.Gly1228Ala) c.2003G>C (p.Gly668Ala) | |
X | g.108668382G= | CA2450712941 | COL4A5 | c.3668G= (p.Gly1223=) c.3344G= (p.Gly1115=) c.1241G= (p.Gly414=) c.3683G= (p.Gly1228=) c.2003G= (p.Gly668=) | |
X | g.108668382G>T | CA258925 | COL4A5 | c.3668G>T (p.Gly1223Val) c.3344G>T (p.Gly1115Val) c.1241G>T (p.Gly414Val) c.3683G>T (p.Gly1228Val) c.2003G>T (p.Gly668Val) | dbSNP |
X | g.108668383C>A | CA517922668 | COL4A5 | c.3669C>A (p.Gly1223=) c.3345C>A (p.Gly1115=) c.1242C>A (p.Gly414=) c.3684C>A (p.Gly1228=) c.2004C>A (p.Gly668=) | ClinVar |
X | g.108668383C= | CA2450712942 | COL4A5 | c.3669C= (p.Gly1223=) c.3345C= (p.Gly1115=) c.1242C= (p.Gly414=) c.3684C= (p.Gly1228=) c.2004C= (p.Gly668=) | |
X | g.108668383C>G | CA517922669 | COL4A5 | c.3669C>G (p.Gly1223=) c.3345C>G (p.Gly1115=) c.1242C>G (p.Gly414=) c.3684C>G (p.Gly1228=) c.2004C>G (p.Gly668=) | |
X | g.108668383C>T | CA10489157 | COL4A5 | c.3669C>T (p.Gly1223=) c.3345C>T (p.Gly1115=) c.1242C>T (p.Gly414=) c.3684C>T (p.Gly1228=) c.2004C>T (p.Gly668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108668384G>A | CA413848622 | COL4A5 | c.3670G>A (p.Glu1224Lys) c.3346G>A (p.Glu1116Lys) c.1243G>A (p.Glu415Lys) c.3685G>A (p.Glu1229Lys) c.2005G>A (p.Glu669Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108668384G>C | CA413848617 | COL4A5 | c.3670G>C (p.Glu1224Gln) c.3346G>C (p.Glu1116Gln) c.1243G>C (p.Glu415Gln) c.3685G>C (p.Glu1229Gln) c.2005G>C (p.Glu669Gln) | |
X | g.108668384G= | CA2450712943 | COL4A5 | c.3670G= (p.Glu1224=) c.3346G= (p.Glu1116=) c.1243G= (p.Glu415=) c.3685G= (p.Glu1229=) c.2005G= (p.Glu669=) | |
X | g.108668384G>T | CA413848619 | COL4A5 | c.3670G>T (p.Glu1224Ter) c.3346G>T (p.Glu1116Ter) c.1243G>T (p.Glu415Ter) c.3685G>T (p.Glu1229Ter) c.2005G>T (p.Glu669Ter) | ClinVar dbSNP |
X | g.108668385A>C | CA413848625 | COL4A5 | c.3671A>C (p.Glu1224Ala) c.3347A>C (p.Glu1116Ala) c.1244A>C (p.Glu415Ala) c.3686A>C (p.Glu1229Ala) c.2006A>C (p.Glu669Ala) | |
X | g.108668385A>G | CA413848628 | COL4A5 | c.3671A>G (p.Glu1224Gly) c.3347A>G (p.Glu1116Gly) c.1244A>G (p.Glu415Gly) c.3686A>G (p.Glu1229Gly) c.2006A>G (p.Glu669Gly) | |
X | g.108668385A>T | CA413848630 | COL4A5 | c.3671A>T (p.Glu1224Val) c.3347A>T (p.Glu1116Val) c.1244A>T (p.Glu415Val) c.3686A>T (p.Glu1229Val) c.2006A>T (p.Glu669Val) | |
X | g.108668386del | CA2739289608 | COL4A5 | c.3672del (p.Glu1224AspfsTer?) c.3348del (p.Glu1116AspfsTer?) c.1245del (p.Glu415AspfsTer?) c.3687del (p.Glu1229AspfsTer?) c.2007del (p.Glu669AspfsTer?) | |
X | g.108668386A>C | CA413848633 | COL4A5 | c.3672A>C (p.Glu1224Asp) c.3348A>C (p.Glu1116Asp) c.1245A>C (p.Glu415Asp) c.3687A>C (p.Glu1229Asp) c.2007A>C (p.Glu669Asp) | |
X | g.108668386A>G | CA517922670 | COL4A5 | c.3672A>G (p.Glu1224=) c.3348A>G (p.Glu1116=) c.1245A>G (p.Glu415=) c.3687A>G (p.Glu1229=) c.2007A>G (p.Glu669=) | |
X | g.108668386A>T | CA413848635 | COL4A5 | c.3672A>T (p.Glu1224Asp) c.3348A>T (p.Glu1116Asp) c.1245A>T (p.Glu415Asp) c.3687A>T (p.Glu1229Asp) c.2007A>T (p.Glu669Asp) | |
X | g.108668387C>A | CA413848638 | COL4A5 | c.3673C>A (p.Pro1225Thr) c.3349C>A (p.Pro1117Thr) c.1246C>A (p.Pro416Thr) c.3688C>A (p.Pro1230Thr) c.2008C>A (p.Pro670Thr) | |
X | g.108668387C>G | CA413848641 | COL4A5 | c.3673C>G (p.Pro1225Ala) c.3349C>G (p.Pro1117Ala) c.1246C>G (p.Pro416Ala) c.3688C>G (p.Pro1230Ala) c.2008C>G (p.Pro670Ala) | |
X | g.108668387C>T | CA413848643 | COL4A5 | c.3673C>T (p.Pro1225Ser) c.3349C>T (p.Pro1117Ser) c.1246C>T (p.Pro416Ser) c.3688C>T (p.Pro1230Ser) c.2008C>T (p.Pro670Ser) | |
X | g.108668388C>A | CA413848647 | COL4A5 | c.3674C>A (p.Pro1225Gln) c.3350C>A (p.Pro1117Gln) c.1247C>A (p.Pro416Gln) c.3689C>A (p.Pro1230Gln) c.2009C>A (p.Pro670Gln) | |
X | g.108668388C>G | CA413848650 | COL4A5 | c.3674C>G (p.Pro1225Arg) c.3350C>G (p.Pro1117Arg) c.1247C>G (p.Pro416Arg) c.3689C>G (p.Pro1230Arg) c.2009C>G (p.Pro670Arg) | |
X | g.108668388C>T | CA413848652 | COL4A5 | c.3674C>T (p.Pro1225Leu) c.3350C>T (p.Pro1117Leu) c.1247C>T (p.Pro416Leu) c.3689C>T (p.Pro1230Leu) c.2009C>T (p.Pro670Leu) | |
X | g.108668389A>C | CA517922673 | COL4A5 | c.3675A>C (p.Pro1225=) c.3351A>C (p.Pro1117=) c.1248A>C (p.Pro416=) c.3690A>C (p.Pro1230=) c.2010A>C (p.Pro670=) | |
X | g.108668389A>G | CA517922672 | COL4A5 | c.3675A>G (p.Pro1225=) c.3351A>G (p.Pro1117=) c.1248A>G (p.Pro416=) c.3690A>G (p.Pro1230=) c.2010A>G (p.Pro670=) | |
X | g.108668389A>T | CA517922671 | COL4A5 | c.3675A>T (p.Pro1225=) c.3351A>T (p.Pro1117=) c.1248A>T (p.Pro416=) c.3690A>T (p.Pro1230=) c.2010A>T (p.Pro670=) | |
X | g.108668390G>A | CA413848661 | COL4A5 | c.3676G>A (p.Gly1226Ser) c.3352G>A (p.Gly1118Ser) c.1249G>A (p.Gly417Ser) c.3691G>A (p.Gly1231Ser) c.2011G>A (p.Gly671Ser) | |
X | g.108668390G>C | CA413848656 | COL4A5 | c.3676G>C (p.Gly1226Arg) c.3352G>C (p.Gly1118Arg) c.1249G>C (p.Gly417Arg) c.3691G>C (p.Gly1231Arg) c.2011G>C (p.Gly671Arg) | |
X | g.108668390G>T | CA413848658 | COL4A5 | c.3676G>T (p.Gly1226Cys) c.3352G>T (p.Gly1118Cys) c.1249G>T (p.Gly417Cys) c.3691G>T (p.Gly1231Cys) c.2011G>T (p.Gly671Cys) | |
X | g.108668391G>A | CA413848665 | COL4A5 | c.3677G>A (p.Gly1226Asp) c.3353G>A (p.Gly1118Asp) c.1250G>A (p.Gly417Asp) c.3692G>A (p.Gly1231Asp) c.2012G>A (p.Gly671Asp) | |
X | g.108668391G>C | CA413848666 | COL4A5 | c.3677G>C (p.Gly1226Ala) c.3353G>C (p.Gly1118Ala) c.1250G>C (p.Gly417Ala) c.3692G>C (p.Gly1231Ala) c.2012G>C (p.Gly671Ala) | |
X | g.108668391G>T | CA413848670 | COL4A5 | c.3677G>T (p.Gly1226Val) c.3353G>T (p.Gly1118Val) c.1250G>T (p.Gly417Val) c.3692G>T (p.Gly1231Val) c.2012G>T (p.Gly671Val) | |
X | g.108668392C>A | CA517922674 | COL4A5 | c.3678C>A (p.Gly1226=) c.3354C>A (p.Gly1118=) c.1251C>A (p.Gly417=) c.3693C>A (p.Gly1231=) c.2013C>A (p.Gly671=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108668392C= | CA2450712944 | COL4A5 | c.3678C= (p.Gly1226=) c.3354C= (p.Gly1118=) c.1251C= (p.Gly417=) c.3693C= (p.Gly1231=) c.2013C= (p.Gly671=) | |
X | g.108668392C>G | CA517922675 | COL4A5 | c.3678C>G (p.Gly1226=) c.3354C>G (p.Gly1118=) c.1251C>G (p.Gly417=) c.3693C>G (p.Gly1231=) c.2013C>G (p.Gly671=) | |
X | g.108668392C>T | CA517922676 | COL4A5 | c.3678C>T (p.Gly1226=) c.3354C>T (p.Gly1118=) c.1251C>T (p.Gly417=) c.3693C>T (p.Gly1231=) c.2013C>T (p.Gly671=) |