Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.110173839C>G | CA2623673264 | COL4A1 | c.3505+61G>C (n.3505+61G>C) c.3313+61G>C (n.3313+61G>C) | gnomAD v4 |
13 | g.110173839C>T | CA2575453827 | COL4A1 | c.3505+61G>A (n.3505+61G>A) c.3313+61G>A (n.3313+61G>A) | |
13 | g.110173840T>C | CA2623673265 | COL4A1 | c.3505+60A>G (n.3505+60A>G) c.3313+60A>G (n.3313+60A>G) | gnomAD v4 |
13 | g.110173841G>T | CA2575453829 | COL4A1 | c.3505+59C>A (n.3505+59C>A) c.3313+59C>A (n.3313+59C>A) | gnomAD v4 |
13 | g.110173842C= | CA2118736917 | COL4A1 | c.3505+58G= (n.3505+58G=) c.3313+58G= (n.3313+58G=) | |
13 | g.110173842C>T | CA256253388 | COL4A1 | c.3505+58G>A (n.3505+58G>A) c.3313+58G>A (n.3313+58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173843A>G | CA2623673266 | COL4A1 | c.3505+57T>C (n.3505+57T>C) c.3313+57T>C (n.3313+57T>C) | gnomAD v4 |
13 | g.110173844G>A | CA256253392 | COL4A1 | c.3505+56C>T (n.3505+56C>T) c.3313+56C>T (n.3313+56C>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110173844G>C | CA2623673267 | COL4A1 | c.3505+56C>G (n.3505+56C>G) c.3313+56C>G (n.3313+56C>G) | gnomAD v4 |
13 | g.110173844G= | CA2118736920 | COL4A1 | c.3505+56C= (n.3505+56C=) c.3313+56C= (n.3313+56C=) | |
13 | g.110173844G>T | CA2800581133 | COL4A1 | c.3505+56C>A (n.3505+56C>A) c.3313+56C>A (n.3313+56C>A) | |
13 | g.110173845G>A | CA2575453830 | COL4A1 | c.3505+55C>T (n.3505+55C>T) c.3313+55C>T (n.3313+55C>T) | |
13 | g.110173848T>A | CA960161606 | COL4A1 | c.3505+52A>T (n.3505+52A>T) c.3313+52A>T (n.3313+52A>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110173848T= | CA2118736926 | COL4A1 | c.3505+52A= (n.3505+52A=) c.3313+52A= (n.3313+52A=) | |
13 | g.110173851G>A | CA256253396 | COL4A1 | c.3505+49C>T (n.3505+49C>T) c.3313+49C>T (n.3313+49C>T) | dbSNP |
13 | g.110173851G= | CA2118736928 | COL4A1 | c.3505+49C= (n.3505+49C=) c.3313+49C= (n.3313+49C=) | |
13 | g.110173855G>A | CA2623673268 | COL4A1 | c.3505+45C>T (n.3505+45C>T) c.3313+45C>T (n.3313+45C>T) | gnomAD v4 |
13 | g.110173855G>C | CA2118736931 | COL4A1 | c.3505+45C>G (n.3505+45C>G) c.3313+45C>G (n.3313+45C>G) | dbSNP gnomAD v4 |
13 | g.110173855G= | CA2118736930 | COL4A1 | c.3505+45C= (n.3505+45C=) c.3313+45C= (n.3313+45C=) | |
13 | g.110173856T>A | CA2623673269 | COL4A1 | c.3505+44A>T (n.3505+44A>T) c.3313+44A>T (n.3313+44A>T) | gnomAD v4 |
13 | g.110173857G>A | CA612624524 | COL4A1 | c.3505+43C>T (n.3505+43C>T) c.3313+43C>T (n.3313+43C>T) | dbSNP gnomAD v2 |
13 | g.110173857G= | CA2118736932 | COL4A1 | c.3505+43C= (n.3505+43C=) c.3313+43C= (n.3313+43C=) | |
13 | g.110173858G>C | CA7047238 | COL4A1 | c.3505+42C>G (n.3505+42C>G) c.3313+42C>G (n.3313+42C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173858G= | CA2118736934 | COL4A1 | c.3505+42C= (n.3505+42C=) c.3313+42C= (n.3313+42C=) | |
13 | g.110173860C>T | CA2623673270 | COL4A1 | c.3505+40G>A (n.3505+40G>A) c.3313+40G>A (n.3313+40G>A) | gnomAD v4 |
13 | g.110173861A= | CA2118736936 | COL4A1 | c.3505+39T= (n.3505+39T=) c.3313+39T= (n.3313+39T=) | |
13 | g.110173861A>C | CA695034923 | COL4A1 | c.3505+39T>G (n.3505+39T>G) c.3313+39T>G (n.3313+39T>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110173862C= | CA2118736938 | COL4A1 | c.3505+38G= (n.3505+38G=) c.3313+38G= (n.3313+38G=) | |
13 | g.110173862C>T | CA7047239 | COL4A1 | c.3505+38G>A (n.3505+38G>A) c.3313+38G>A (n.3313+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173863T>G | CA2530278391 | COL4A1 | c.3505+37A>C (n.3505+37A>C) c.3313+37A>C (n.3313+37A>C) | |
13 | g.110173863T= | CA2118736939 | COL4A1 | c.3505+37A= (n.3505+37A=) c.3313+37A= (n.3313+37A=) | |
13 | g.110173864dup | CA612624525 | COL4A1 | c.3505+36dup (n.3505+36dup) c.3313+36dup (n.3313+36dup) | dbSNP gnomAD v2 |
13 | g.110173865C>A | CA2118736942 | COL4A1 | c.3505+35G>T (n.3505+35G>T) c.3313+35G>T (n.3313+35G>T) | dbSNP |
13 | g.110173865C= | CA2118736941 | COL4A1 | c.3505+35G= (n.3505+35G=) c.3313+35G= (n.3313+35G=) | |
13 | g.110173869T>A | CA2510290404 | COL4A1 | c.3505+31A>T (n.3505+31A>T) c.3313+31A>T (n.3313+31A>T) | |
13 | g.110173869T>C | CA7047240 | COL4A1 | c.3505+31A>G (n.3505+31A>G) c.3313+31A>G (n.3313+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173869T= | CA2118736944 | COL4A1 | c.3505+31A= (n.3505+31A=) c.3313+31A= (n.3313+31A=) | |
13 | g.110173871C>T | CA2623673271 | COL4A1 | c.3505+29G>A (n.3505+29G>A) c.3313+29G>A (n.3313+29G>A) | gnomAD v4 |
13 | g.110173872T>A | CA2623673272 | COL4A1 | c.3505+28A>T (n.3505+28A>T) c.3313+28A>T (n.3313+28A>T) | gnomAD v4 |
13 | g.110173873G>A | CA2623673273 | COL4A1 | c.3505+27C>T (n.3505+27C>T) c.3313+27C>T (n.3313+27C>T) | gnomAD v4 |
13 | g.110173873G>C | CA2575453831 | COL4A1 | c.3505+27C>G (n.3505+27C>G) c.3313+27C>G (n.3313+27C>G) | |
13 | g.110173874A= | CA2118736946 | COL4A1 | c.3505+26T= (n.3505+26T=) c.3313+26T= (n.3313+26T=) | |
13 | g.110173874A>G | CA7047241 | COL4A1 | c.3505+26T>C (n.3505+26T>C) c.3313+26T>C (n.3313+26T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173875T>A | CA960161608 | COL4A1 | c.3505+25A>T (n.3505+25A>T) c.3313+25A>T (n.3313+25A>T) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110173875T>C | CA7047242 | COL4A1 | c.3505+25A>G (n.3505+25A>G) c.3313+25A>G (n.3313+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173875T= | CA2118736949 | COL4A1 | c.3505+25A= (n.3505+25A=) c.3313+25A= (n.3313+25A=) | |
13 | g.110173877G>A | CA7047243 | COL4A1 | c.3505+23C>T (n.3505+23C>T) c.3313+23C>T (n.3313+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173877G= | CA2118736952 | COL4A1 | c.3505+23C= (n.3505+23C=) c.3313+23C= (n.3313+23C=) | |
13 | g.110173877G>T | CA2575453832 | COL4A1 | c.3505+23C>A (n.3505+23C>A) c.3313+23C>A (n.3313+23C>A) | |
13 | g.110173878G>A | CA7047244 | COL4A1 | c.3505+22C>T (n.3505+22C>T) c.3313+22C>T (n.3313+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173878G= | CA2118736954 | COL4A1 | c.3505+22C= (n.3505+22C=) c.3313+22C= (n.3313+22C=) | |
13 | g.110173879G>A | CA2623673274 | COL4A1 | c.3505+21C>T (n.3505+21C>T) c.3313+21C>T (n.3313+21C>T) | gnomAD v4 |
13 | g.110173879G= | CA2118736957 | COL4A1 | c.3505+21C= (n.3505+21C=) c.3313+21C= (n.3313+21C=) | |
13 | g.110173879G>T | CA612624526 | COL4A1 | c.3505+21C>A (n.3505+21C>A) c.3313+21C>A (n.3313+21C>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110173882T>A | CA7047245 | COL4A1 | c.3505+18A>T (n.3505+18A>T) c.3313+18A>T (n.3313+18A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173882T>G | CA612624527 | COL4A1 | c.3505+18A>C (n.3505+18A>C) c.3313+18A>C (n.3313+18A>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110173882T= | CA2118736959 | COL4A1 | c.3505+18A= (n.3505+18A=) c.3313+18A= (n.3313+18A=) | |
13 | g.110173883G>A | CA2623673275 | COL4A1 | c.3505+17C>T (n.3505+17C>T) c.3313+17C>T (n.3313+17C>T) | gnomAD v4 |
13 | g.110173883G>C | CA2623673276 | COL4A1 | c.3505+17C>G (n.3505+17C>G) c.3313+17C>G (n.3313+17C>G) | gnomAD v4 |
13 | g.110173883G>T | CA2575453833 | COL4A1 | c.3505+17C>A (n.3505+17C>A) c.3313+17C>A (n.3313+17C>A) | |
13 | g.110173884G>A | CA2623673277 | COL4A1 | c.3505+16C>T (n.3505+16C>T) c.3313+16C>T (n.3313+16C>T) | gnomAD v4 |
13 | g.110173884G= | CA2118736962 | COL4A1 | c.3505+16C= (n.3505+16C=) c.3313+16C= (n.3313+16C=) | |
13 | g.110173884G>T | CA612624528 | COL4A1 | c.3505+16C>A (n.3505+16C>A) c.3313+16C>A (n.3313+16C>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110173885G>C | CA7047246 | COL4A1 | c.3505+15C>G (n.3505+15C>G) c.3313+15C>G (n.3313+15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173885G= | CA2118736964 | COL4A1 | c.3505+15C= (n.3505+15C=) c.3313+15C= (n.3313+15C=) | |
13 | g.110173885G>T | CA2623673278 | COL4A1 | c.3505+15C>A (n.3505+15C>A) c.3313+15C>A (n.3313+15C>A) | gnomAD v4 |
13 | g.110173886G>A | CA2118736969 | COL4A1 | c.3505+14C>T (n.3505+14C>T) c.3313+14C>T (n.3313+14C>T) | dbSNP gnomAD v4 |
13 | g.110173886G= | CA2118736967 | COL4A1 | c.3505+14C= (n.3505+14C=) c.3313+14C= (n.3313+14C=) | |
13 | g.110173887C>A | CA7047248 | COL4A1 | c.3505+13G>T (n.3505+13G>T) c.3313+13G>T (n.3313+13G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173887C= | CA2118736972 | COL4A1 | c.3505+13G= (n.3505+13G=) c.3313+13G= (n.3313+13G=) | |
13 | g.110173887C>T | CA7047247 | COL4A1 | c.3505+13G>A (n.3505+13G>A) c.3313+13G>A (n.3313+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173888G>A | CA7047249 | COL4A1 | c.3505+12C>T (n.3505+12C>T) c.3313+12C>T (n.3313+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173888G= | CA2118736975 | COL4A1 | c.3505+12C= (n.3505+12C=) c.3313+12C= (n.3313+12C=) | |
13 | g.110173889T>A | CA2623673279 | COL4A1 | c.3505+11A>T (n.3505+11A>T) c.3313+11A>T (n.3313+11A>T) | gnomAD v4 |
13 | g.110173889T>C | CA7047250 | COL4A1 | c.3505+11A>G (n.3505+11A>G) c.3313+11A>G (n.3313+11A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173889T= | CA2118736977 | COL4A1 | c.3505+11A= (n.3505+11A=) c.3313+11A= (n.3313+11A=) | |
13 | g.110173890T>G | CA256253428 | COL4A1 | c.3505+10A>C (n.3505+10A>C) c.3313+10A>C (n.3313+10A>C) | dbSNP |
13 | g.110173890T= | CA2118736979 | COL4A1 | c.3505+10A= (n.3505+10A=) c.3313+10A= (n.3313+10A=) | |
13 | g.110173891G>A | CA2575453834 | COL4A1 | c.3505+9C>T (n.3505+9C>T) c.3313+9C>T (n.3313+9C>T) | gnomAD v4 |
13 | g.110173892G>T | CA2800581134 | COL4A1 | c.3505+8C>A (n.3505+8C>A) c.3313+8C>A (n.3313+8C>A) | |
13 | g.110173893G>A | CA2728936866 | COL4A1 | c.3505+7C>T (n.3505+7C>T) c.3313+7C>T (n.3313+7C>T) | dbSNP |
13 | g.110173893G>C | CA612624529 | COL4A1 | c.3505+7C>G (n.3505+7C>G) c.3313+7C>G (n.3313+7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.110173893G= | CA2118736982 | COL4A1 | c.3505+7C= (n.3505+7C=) c.3313+7C= (n.3313+7C=) | |
13 | g.110173895_110173896delinsCA | CA2118736985 | COL4A1 | c.3505+4_3505+5delinsTG (n.3505+4_3505+5delinsTG) c.3313+4_3313+5delinsTG (n.3313+4_3313+5delinsTG) | |
13 | g.110173896del | CA7047251 | COL4A1 | c.3505+4del (n.3505+4del) c.3313+4del (n.3313+4del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173896A= | CA2118736987 | COL4A1 | c.3505+4T= (n.3505+4T=) c.3313+4T= (n.3313+4T=) | |
13 | g.110173896A>C | CA2580087134 | COL4A1 | c.3505+4T>G (n.3505+4T>G) c.3313+4T>G (n.3313+4T>G) | ClinVar |
13 | g.110173896A>G | CA7047252 | COL4A1 | c.3505+4T>C (n.3505+4T>C) c.3313+4T>C (n.3313+4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173897del | CA388664091 | COL4A1 | c.3505+3del (n.3505+3del) c.3313+3del (n.3313+3del) | |
13 | g.110173897T>A | CA484789103 | COL4A1 | c.3505+3A>T (n.3505+3A>T) c.3313+3A>T (n.3313+3A>T) | COSMIC COSMIC |
13 | g.110173897T>C | CA2623673280 | COL4A1 | c.3505+3A>G (n.3505+3A>G) c.3313+3A>G (n.3313+3A>G) | gnomAD v4 |
13 | g.110173898A>C | CA388664092 | COL4A1 | c.3505+2T>G (n.3505+2T>G) c.3313+2T>G (n.3313+2T>G) | |
13 | g.110173898A>G | CA388664093 | COL4A1 | c.3505+2T>C (n.3505+2T>C) c.3313+2T>C (n.3313+2T>C) | |
13 | g.110173898A>T | CA388664094 | COL4A1 | c.3505+2T>A (n.3505+2T>A) c.3313+2T>A (n.3313+2T>A) | |
13 | g.110173899C>A | CA388664095 | COL4A1 | c.3505+1G>T (n.3505+1G>T) c.3313+1G>T (n.3313+1G>T) | |
13 | g.110173899C= | CA2118736994 | COL4A1 | c.3505+1G= (n.3505+1G=) c.3313+1G= (n.3313+1G=) | |
13 | g.110173899C>G | CA388664096 | COL4A1 | c.3505+1G>C (n.3505+1G>C) c.3313+1G>C (n.3313+1G>C) | |
13 | g.110173899C>T | CA388664097 | COL4A1 | c.3505+1G>A (n.3505+1G>A) c.3313+1G>A (n.3313+1G>A) | ClinVar dbSNP |
13 | g.110173900C>A | CA388664098 | COL4A1 | c.3505G>T (p.Gly1169Cys) c.3313G>T (p.Gly1105Cys) | |
13 | g.110173900C>G | CA388664100 | COL4A1 | c.3505G>C (p.Gly1169Arg) c.3313G>C (p.Gly1105Arg) | |
13 | g.110173900C>T | CA388664099 | COL4A1 | c.3505G>A (p.Gly1169Ser) c.3313G>A (p.Gly1105Ser) | |
13 | g.110173901T>A | CA484789104 | COL4A1 | c.3504A>T (p.Pro1168=) c.3312A>T (p.Pro1104=) | |
13 | g.110173901T>C | CA484789105 | COL4A1 | c.3504A>G (p.Pro1168=) c.3312A>G (p.Pro1104=) | |
13 | g.110173901T>G | CA484789106 | COL4A1 | c.3504A>C (p.Pro1168=) c.3312A>C (p.Pro1104=) | |
13 | g.110173902G>A | CA388664101 | COL4A1 | c.3503C>T (p.Pro1168Leu) c.3311C>T (p.Pro1104Leu) | |
13 | g.110173902G>C | CA388664102 | COL4A1 | c.3503C>G (p.Pro1168Arg) c.3311C>G (p.Pro1104Arg) | |
13 | g.110173902G>T | CA388664103 | COL4A1 | c.3503C>A (p.Pro1168Gln) c.3311C>A (p.Pro1104Gln) | gnomAD v4 |
13 | g.110173903G>A | CA7047253 | COL4A1 | c.3502C>T (p.Pro1168Ser) c.3310C>T (p.Pro1104Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173903G>C | CA388664104 | COL4A1 | c.3502C>G (p.Pro1168Ala) c.3310C>G (p.Pro1104Ala) | |
13 | g.110173903G= | CA2118737003 | COL4A1 | c.3502C= (p.Pro1168=) c.3310C= (p.Pro1104=) | |
13 | g.110173903G>T | CA388664105 | COL4A1 | c.3502C>A (p.Pro1168Thr) c.3310C>A (p.Pro1104Thr) | |
13 | g.110173904T>A | CA388664106 | COL4A1 | c.3501A>T (p.Glu1167Asp) c.3309A>T (p.Glu1103Asp) | |
13 | g.110173904T>C | CA484789107 | COL4A1 | c.3501A>G (p.Glu1167=) c.3309A>G (p.Glu1103=) | ClinVar |
13 | g.110173904T>G | CA388664107 | COL4A1 | c.3501A>C (p.Glu1167Asp) c.3309A>C (p.Glu1103Asp) | |
13 | g.110173905T>A | CA388664108 | COL4A1 | c.3500A>T (p.Glu1167Val) c.3308A>T (p.Glu1103Val) | |
13 | g.110173905T>C | CA388664109 | COL4A1 | c.3500A>G (p.Glu1167Gly) c.3308A>G (p.Glu1103Gly) | |
13 | g.110173905T>G | CA388664110 | COL4A1 | c.3500A>C (p.Glu1167Ala) c.3308A>C (p.Glu1103Ala) | |
13 | g.110173906C>A | CA388664113 | COL4A1 | c.3499G>T (p.Glu1167Ter) c.3307G>T (p.Glu1103Ter) | |
13 | g.110173906C= | CA2118737007 | COL4A1 | c.3499G= (p.Glu1167=) c.3307G= (p.Glu1103=) | |
13 | g.110173906C>G | CA388664111 | COL4A1 | c.3499G>C (p.Glu1167Gln) c.3307G>C (p.Glu1103Gln) | |
13 | g.110173906C>T | CA388664112 | COL4A1 | c.3499G>A (p.Glu1167Lys) c.3307G>A (p.Glu1103Lys) | ClinVar dbSNP |
13 | g.110173907A= | CA2118737014 | COL4A1 | c.3498T= (p.Gly1166=) c.3306T= (p.Gly1102=) | |
13 | g.110173907A>C | CA484789108 | COL4A1 | c.3498T>G (p.Gly1166=) c.3306T>G (p.Gly1102=) | |
13 | g.110173907A>G | CA7047254 | COL4A1 | c.3498T>C (p.Gly1166=) c.3306T>C (p.Gly1102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173907A>T | CA484789109 | COL4A1 | c.3498T>A (p.Gly1166=) c.3306T>A (p.Gly1102=) | |
13 | g.110173908C>A | CA388664114 | COL4A1 | c.3497G>T (p.Gly1166Val) c.3305G>T (p.Gly1102Val) | ClinVar dbSNP |
13 | g.110173908C= | CA2118737020 | COL4A1 | c.3497G= (p.Gly1166=) c.3305G= (p.Gly1102=) | |
13 | g.110173908C>G | CA388664115 | COL4A1 | c.3497G>C (p.Gly1166Ala) c.3305G>C (p.Gly1102Ala) | |
13 | g.110173908C>T | CA388664116 | COL4A1 | c.3497G>A (p.Gly1166Asp) c.3305G>A (p.Gly1102Asp) | ClinVar |
13 | g.110173909C>A | CA7047255 | COL4A1 | c.3496G>T (p.Gly1166Cys) c.3304G>T (p.Gly1102Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173909C= | CA2118737026 | COL4A1 | c.3496G= (p.Gly1166=) c.3304G= (p.Gly1102=) | |
13 | g.110173909C>G | CA388664117 | COL4A1 | c.3496G>C (p.Gly1166Arg) c.3304G>C (p.Gly1102Arg) | |
13 | g.110173909C>T | CA388664118 | COL4A1 | c.3496G>A (p.Gly1166Ser) c.3304G>A (p.Gly1102Ser) | |
13 | g.110173910C>A | CA388664120 | COL4A1 | c.3495G>T (p.Lys1165Asn) c.3303G>T (p.Lys1101Asn) | |
13 | g.110173910C= | CA2118737031 | COL4A1 | c.3495G= (p.Lys1165=) c.3303G= (p.Lys1101=) | |
13 | g.110173910C>G | CA388664119 | COL4A1 | c.3495G>C (p.Lys1165Asn) c.3303G>C (p.Lys1101Asn) | ClinVar dbSNP |
13 | g.110173910C>T | CA484789110 | COL4A1 | c.3495G>A (p.Lys1165=) c.3303G>A (p.Lys1101=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110173911T>A | CA388664121 | COL4A1 | c.3494A>T (p.Lys1165Met) c.3302A>T (p.Lys1101Met) | |
13 | g.110173911T>C | CA388664122 | COL4A1 | c.3494A>G (p.Lys1165Arg) c.3302A>G (p.Lys1101Arg) | |
13 | g.110173911T>G | CA388664123 | COL4A1 | c.3494A>C (p.Lys1165Thr) c.3302A>C (p.Lys1101Thr) | COSMIC COSMIC |
13 | g.110173912T>A | CA388664124 | COL4A1 | c.3493A>T (p.Lys1165Ter) c.3301A>T (p.Lys1101Ter) | |
13 | g.110173912T>C | CA388664125 | COL4A1 | c.3493A>G (p.Lys1165Glu) c.3301A>G (p.Lys1101Glu) | ClinVar gnomAD v4 |
13 | g.110173912T>G | CA388664126 | COL4A1 | c.3493A>C (p.Lys1165Gln) c.3301A>C (p.Lys1101Gln) | |
13 | g.110173913C>A | CA388664127 | COL4A1 | c.3492G>T (p.Glu1164Asp) c.3300G>T (p.Glu1100Asp) | gnomAD v4 |
13 | g.110173913C= | CA2118737034 | COL4A1 | c.3492G= (p.Glu1164=) c.3300G= (p.Glu1100=) | |
13 | g.110173913C>G | CA388664128 | COL4A1 | c.3492G>C (p.Glu1164Asp) c.3300G>C (p.Glu1100Asp) | |
13 | g.110173913C>T | CA7047256 | COL4A1 | c.3492G>A (p.Glu1164=) c.3300G>A (p.Glu1100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173914T>A | CA388664129 | COL4A1 | c.3491A>T (p.Glu1164Val) c.3299A>T (p.Glu1100Val) | |
13 | g.110173914T>C | CA388664130 | COL4A1 | c.3491A>G (p.Glu1164Gly) c.3299A>G (p.Glu1100Gly) | |
13 | g.110173914T>G | CA388664131 | COL4A1 | c.3491A>C (p.Glu1164Ala) c.3299A>C (p.Glu1100Ala) | |
13 | g.110173915C>A | CA388664132 | COL4A1 | c.3490G>T (p.Glu1164Ter) c.3298G>T (p.Glu1100Ter) | |
13 | g.110173915C>G | CA388664133 | COL4A1 | c.3490G>C (p.Glu1164Gln) c.3298G>C (p.Glu1100Gln) | |
13 | g.110173915C>T | CA388664134 | COL4A1 | c.3490G>A (p.Glu1164Lys) c.3298G>A (p.Glu1100Lys) | |
13 | g.110173916T>A | CA484789111 | COL4A1 | c.3489A>T (p.Gly1163=) c.3297A>T (p.Gly1099=) | |
13 | g.110173916T>C | CA484789112 | COL4A1 | c.3489A>G (p.Gly1163=) c.3297A>G (p.Gly1099=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.110173916T>G | CA484789113 | COL4A1 | c.3489A>C (p.Gly1163=) c.3297A>C (p.Gly1099=) | |
13 | g.110173916T= | CA2118737036 | COL4A1 | c.3489A= (p.Gly1163=) c.3297A= (p.Gly1099=) | |
13 | g.110173917C>A | CA388664135 | COL4A1 | c.3488G>T (p.Gly1163Val) c.3296G>T (p.Gly1099Val) | |
13 | g.110173917C>G | CA388664136 | COL4A1 | c.3488G>C (p.Gly1163Ala) c.3296G>C (p.Gly1099Ala) | |
13 | g.110173917C>T | CA388664137 | COL4A1 | c.3488G>A (p.Gly1163Glu) c.3296G>A (p.Gly1099Glu) | ClinVar dbSNP |
13 | g.110173918C>A | CA388664138 | COL4A1 | c.3487G>T (p.Gly1163Ter) c.3295G>T (p.Gly1099Ter) | |
13 | g.110173918C>G | CA388664139 | COL4A1 | c.3487G>C (p.Gly1163Arg) c.3295G>C (p.Gly1099Arg) | |
13 | g.110173918C>T | CA388664140 | COL4A1 | c.3487G>A (p.Gly1163Arg) c.3295G>A (p.Gly1099Arg) | |
13 | g.110173919T>A | CA484789114 | COL4A1 | c.3486A>T (p.Ala1162=) c.3294A>T (p.Ala1098=) | |
13 | g.110173919T>C | CA484789115 | COL4A1 | c.3486A>G (p.Ala1162=) c.3294A>G (p.Ala1098=) | |
13 | g.110173919T>G | CA484789116 | COL4A1 | c.3486A>C (p.Ala1162=) c.3294A>C (p.Ala1098=) | |
13 | g.110173920G>A | CA7047257 | COL4A1 | c.3485C>T (p.Ala1162Val) c.3293C>T (p.Ala1098Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173920G>C | CA388664142 | COL4A1 | c.3485C>G (p.Ala1162Gly) c.3293C>G (p.Ala1098Gly) | |
13 | g.110173920G= | CA2118737038 | COL4A1 | c.3485C= (p.Ala1162=) c.3293C= (p.Ala1098=) | |
13 | g.110173920G>T | CA388664141 | COL4A1 | c.3485C>A (p.Ala1162Glu) c.3293C>A (p.Ala1098Glu) | gnomAD v4 |
13 | g.110173921C>A | CA388664143 | COL4A1 | c.3484G>T (p.Ala1162Ser) c.3292G>T (p.Ala1098Ser) | gnomAD v4 |
13 | g.110173921C= | CA2118737040 | COL4A1 | c.3484G= (p.Ala1162=) c.3292G= (p.Ala1098=) | |
13 | g.110173921C>G | CA388664144 | COL4A1 | c.3484G>C (p.Ala1162Pro) c.3292G>C (p.Ala1098Pro) | |
13 | g.110173921C>T | CA7047258 | COL4A1 | c.3484G>A (p.Ala1162Thr) c.3292G>A (p.Ala1098Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173922T>A | CA484789117 | COL4A1 | c.3483A>T (p.Ser1161=) c.3291A>T (p.Ser1097=) | |
13 | g.110173922T>C | CA484789118 | COL4A1 | c.3483A>G (p.Ser1161=) c.3291A>G (p.Ser1097=) | |
13 | g.110173922T>G | CA484789119 | COL4A1 | c.3483A>C (p.Ser1161=) c.3291A>C (p.Ser1097=) | |
13 | g.110173923G>A | CA388664145 | COL4A1 | c.3482C>T (p.Ser1161Leu) c.3290C>T (p.Ser1097Leu) | |
13 | g.110173923G>C | CA388664146 | COL4A1 | c.3482C>G (p.Ser1161Ter) c.3290C>G (p.Ser1097Ter) | |
13 | g.110173923G>T | CA388664147 | COL4A1 | c.3482C>A (p.Ser1161Ter) c.3290C>A (p.Ser1097Ter) | |
13 | g.110173924A= | CA2118737043 | COL4A1 | c.3481T= (p.Ser1161=) c.3289T= (p.Ser1097=) | |
13 | g.110173924A>C | CA388664148 | COL4A1 | c.3481T>G (p.Ser1161Ala) c.3289T>G (p.Ser1097Ala) | |
13 | g.110173924A>G | CA388664149 | COL4A1 | c.3481T>C (p.Ser1161Pro) c.3289T>C (p.Ser1097Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110173924A>T | CA388664150 | COL4A1 | c.3481T>A (p.Ser1161Thr) c.3289T>A (p.Ser1097Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.110173925C>A | CA484789120 | COL4A1 | c.3480G>T (p.Gly1160=) c.3288G>T (p.Gly1096=) | |
13 | g.110173925C= | CA2118737046 | COL4A1 | c.3480G= (p.Gly1160=) c.3288G= (p.Gly1096=) | |
13 | g.110173925C>G | CA484789121 | COL4A1 | c.3480G>C (p.Gly1160=) c.3288G>C (p.Gly1096=) | |
13 | g.110173925C>T | CA7047259 | COL4A1 | c.3480G>A (p.Gly1160=) c.3288G>A (p.Gly1096=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110173928del | CA2580616535 | COL4A1 | c.3480del (p.Ser1161GlnfsTer?) c.3288del (p.Ser1097GlnfsTer?) | ClinVar |
13 | g.110173926C>A | CA388664151 | COL4A1 | c.3479G>T (p.Gly1160Val) c.3287G>T (p.Gly1096Val) | COSMIC COSMIC |
13 | g.110173926C>G | CA388664152 | COL4A1 | c.3479G>C (p.Gly1160Ala) c.3287G>C (p.Gly1096Ala) | |
13 | g.110173926C>T | CA388664153 | COL4A1 | c.3479G>A (p.Gly1160Glu) c.3287G>A (p.Gly1096Glu) | |
13 | g.110173927C>A | CA388664156 | COL4A1 | c.3478G>T (p.Gly1160Trp) c.3286G>T (p.Gly1096Trp) | |
13 | g.110173927C>G | CA388664154 | COL4A1 | c.3478G>C (p.Gly1160Arg) c.3286G>C (p.Gly1096Arg) | |
13 | g.110173927C>T | CA388664155 | COL4A1 | c.3478G>A (p.Gly1160Arg) c.3286G>A (p.Gly1096Arg) | |
13 | g.110173928C>A | CA484789122 | COL4A1 | c.3477G>T (p.Pro1159=) c.3285G>T (p.Pro1095=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173928C= | CA2118737048 | COL4A1 | c.3477G= (p.Pro1159=) c.3285G= (p.Pro1095=) | |
13 | g.110173928C>G | CA484789123 | COL4A1 | c.3477G>C (p.Pro1159=) c.3285G>C (p.Pro1095=) | |
13 | g.110173928C>T | CA7047260 | COL4A1 | c.3477G>A (p.Pro1159=) c.3285G>A (p.Pro1095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173929G>A | CA256253465 | COL4A1 | c.3476C>T (p.Pro1159Leu) c.3284C>T (p.Pro1095Leu) | dbSNP gnomAD v4 |
13 | g.110173929G>C | CA388664157 | COL4A1 | c.3476C>G (p.Pro1159Arg) c.3284C>G (p.Pro1095Arg) | gnomAD v4 |
13 | g.110173929G= | CA2118737050 | COL4A1 | c.3476C= (p.Pro1159=) c.3284C= (p.Pro1095=) | |
13 | g.110173929G>T | CA388664158 | COL4A1 | c.3476C>A (p.Pro1159Gln) c.3284C>A (p.Pro1095Gln) | gnomAD v4 |
13 | g.110173929_110173930delinsAA | CA645573516 | COL4A1 | c.3475_3476delinsTT (p.Pro1159Leu) c.3283_3284delinsTT (p.Pro1095Leu) | COSMIC COSMIC |
13 | g.110173930G>A | CA388664159 | COL4A1 | c.3475C>T (p.Pro1159Ser) c.3283C>T (p.Pro1095Ser) | |
13 | g.110173930G>C | CA388664160 | COL4A1 | c.3475C>G (p.Pro1159Ala) c.3283C>G (p.Pro1095Ala) | |
13 | g.110173930G>T | CA388664161 | COL4A1 | c.3475C>A (p.Pro1159Thr) c.3283C>A (p.Pro1095Thr) | |
13 | g.110173931G>A | CA484789124 | COL4A1 | c.3474C>T (p.Ile1158=) c.3282C>T (p.Ile1094=) | COSMIC COSMIC |
13 | g.110173931G>C | CA388664162 | COL4A1 | c.3474C>G (p.Ile1158Met) c.3282C>G (p.Ile1094Met) | |
13 | g.110173931G= | CA2118737053 | COL4A1 | c.3474C= (p.Ile1158=) c.3282C= (p.Ile1094=) | |
13 | g.110173931G>T | CA484789125 | COL4A1 | c.3474C>A (p.Ile1158=) c.3282C>A (p.Ile1094=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110173932A>C | CA388664163 | COL4A1 | c.3473T>G (p.Ile1158Ser) c.3281T>G (p.Ile1094Ser) | |
13 | g.110173932A>G | CA388664164 | COL4A1 | c.3473T>C (p.Ile1158Thr) c.3281T>C (p.Ile1094Thr) | |
13 | g.110173932A>T | CA388664165 | COL4A1 | c.3473T>A (p.Ile1158Asn) c.3281T>A (p.Ile1094Asn) | |
13 | g.110173933T>A | CA388664166 | COL4A1 | c.3472A>T (p.Ile1158Phe) c.3280A>T (p.Ile1094Phe) | |
13 | g.110173933T>C | CA256253469 | COL4A1 | c.3472A>G (p.Ile1158Val) c.3280A>G (p.Ile1094Val) | ClinVar dbSNP |
13 | g.110173933T>G | CA388664167 | COL4A1 | c.3472A>C (p.Ile1158Leu) c.3280A>C (p.Ile1094Leu) | |
13 | g.110173933T= | CA2118737055 | COL4A1 | c.3472A= (p.Ile1158=) c.3280A= (p.Ile1094=) | |
13 | g.110173934T>A | CA484789126 | COL4A1 | c.3471A>T (p.Gly1157=) c.3279A>T (p.Gly1093=) | |
13 | g.110173934T>C | CA484789127 | COL4A1 | c.3471A>G (p.Gly1157=) c.3279A>G (p.Gly1093=) | |
13 | g.110173934T>G | CA484789128 | COL4A1 | c.3471A>C (p.Gly1157=) c.3279A>C (p.Gly1093=) | gnomAD v4 |
13 | g.110173935C>A | CA388664168 | COL4A1 | c.3470G>T (p.Gly1157Val) c.3278G>T (p.Gly1093Val) | |
13 | g.110173935C>G | CA388664170 | COL4A1 | c.3470G>C (p.Gly1157Ala) c.3278G>C (p.Gly1093Ala) | |
13 | g.110173935C>T | CA388664169 | COL4A1 | c.3470G>A (p.Gly1157Glu) c.3278G>A (p.Gly1093Glu) | |
13 | g.110173936C>A | CA388664171 | COL4A1 | c.3469G>T (p.Gly1157Ter) c.3277G>T (p.Gly1093Ter) | |
13 | g.110173936C>G | CA388664172 | COL4A1 | c.3469G>C (p.Gly1157Arg) c.3277G>C (p.Gly1093Arg) | |
13 | g.110173936C>T | CA388664173 | COL4A1 | c.3469G>A (p.Gly1157Arg) c.3277G>A (p.Gly1093Arg) | |
13 | g.110173937A= | CA2118737057 | COL4A1 | c.3468T= (p.Asp1156=) c.3276T= (p.Asp1092=) | |
13 | g.110173937A>C | CA388664174 | COL4A1 | c.3468T>G (p.Asp1156Glu) c.3276T>G (p.Asp1092Glu) | |
13 | g.110173937A>G | CA484789129 | COL4A1 | c.3468T>C (p.Asp1156=) c.3276T>C (p.Asp1092=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.110173937A>T | CA388664175 | COL4A1 | c.3468T>A (p.Asp1156Glu) c.3276T>A (p.Asp1092Glu) | |
13 | g.110173938T>A | CA388664176 | COL4A1 | c.3467A>T (p.Asp1156Val) c.3275A>T (p.Asp1092Val) | ClinVar |
13 | g.110173938T>C | CA388664177 | COL4A1 | c.3467A>G (p.Asp1156Gly) c.3275A>G (p.Asp1092Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173938T>G | CA388664178 | COL4A1 | c.3467A>C (p.Asp1156Ala) c.3275A>C (p.Asp1092Ala) | |
13 | g.110173938T= | CA2118737059 | COL4A1 | c.3467A= (p.Asp1156=) c.3275A= (p.Asp1092=) | |
13 | g.110173939C>A | CA388664179 | COL4A1 | c.3466G>T (p.Asp1156Tyr) c.3274G>T (p.Asp1092Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110173939C= | CA2118737061 | COL4A1 | c.3466G= (p.Asp1156=) c.3274G= (p.Asp1092=) | |
13 | g.110173939C>G | CA388664180 | COL4A1 | c.3466G>C (p.Asp1156His) c.3274G>C (p.Asp1092His) | |
13 | g.110173939C>T | CA388664181 | COL4A1 | c.3466G>A (p.Asp1156Asn) c.3274G>A (p.Asp1092Asn) | dbSNP gnomAD v4 |