Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209615198T>A | CA36742880 | LAMB3 | c.*73A>T (n.*73A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615198T= | CA2484294945 | LAMB3 | c.*73A= (n.*73A=) | |
1 | g.209615199T>A | CA2573996948 | LAMB3 | c.*72A>T (n.*72A>T) | gnomAD v4 |
1 | g.209615200C>A | CA2650319263 | LAMB3 | c.*71G>T (n.*71G>T) | gnomAD v4 |
1 | g.209615200C>T | CA2650319264 | LAMB3 | c.*71G>A (n.*71G>A) | gnomAD v4 |
1 | g.209615201C= | CA1143598895 | LAMB3 | c.*70G= (n.*70G=) | |
1 | g.209615201C>T | CA36742883 | LAMB3 | c.*70G>A (n.*70G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615203A= | CA2484294946 | LAMB3 | c.*68T= (n.*68T=) | |
1 | g.209615203A>T | CA2484294947 | LAMB3 | c.*68T>A (n.*68T>A) | dbSNP gnomAD v4 |
1 | g.209615204C>A | CA1011766063 | LAMB3 | c.*67G>T (n.*67G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209615204C= | CA2484294948 | LAMB3 | c.*67G= (n.*67G=) | |
1 | g.209615204C>T | CA2650319266 | LAMB3 | c.*67G>A (n.*67G>A) | dbSNP gnomAD v4 |
1 | g.209615205C>A | CA2650319267 | LAMB3 | c.*66G>T (n.*66G>T) | gnomAD v4 |
1 | g.209615205C>T | CA2650319268 | LAMB3 | c.*66G>A (n.*66G>A) | gnomAD v4 |
1 | g.209615205_209615209delinsCCAAT | CA2484294949 | LAMB3 | c.*62_*66delinsATTGG (n.*62_*66delinsATTGG) | |
1 | g.209615206C>A | CA2529503239 | LAMB3 | c.*65G>T (n.*65G>T) | gnomAD v4 |
1 | g.209615207_209615210del | CA730844272 | LAMB3 | c.*62_*65del (n.*62_*65del) | dbSNP |
1 | g.209615208A>T | CA2650319269 | LAMB3 | c.*63T>A (n.*63T>A) | gnomAD v4 |
1 | g.209615210C>G | CA2650319270 | LAMB3 | c.*61G>C (n.*61G>C) | gnomAD v4 |
1 | g.209615212G>A | CA730844275 | LAMB3 | c.*59C>T (n.*59C>T) | dbSNP |
1 | g.209615212G= | CA2484294950 | LAMB3 | c.*59C= (n.*59C=) | |
1 | g.209615212G>T | CA528652362 | LAMB3 | c.*59C>A (n.*59C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615212_209615213delinsGC | CA2484294951 | LAMB3 | c.*58_*59delinsGC (n.*58_*59delinsGC) | |
1 | g.209615213C= | CA2484294953 | LAMB3 | c.*58G= (n.*58G=) | |
1 | g.209615213C>T | CA730844294 | LAMB3 | c.*58G>A (n.*58G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209615217del | CA2484294952 | LAMB3 | c.*58del (n.*58del) | dbSNP gnomAD v4 |
1 | g.209615215C>T | CA2650319271 | LAMB3 | c.*56G>A (n.*56G>A) | gnomAD v4 |
1 | g.209615216C>A | CA2650319272 | LAMB3 | c.*55G>T (n.*55G>T) | gnomAD v4 |
1 | g.209615216C= | CA2484294954 | LAMB3 | c.*55G= (n.*55G=) | |
1 | g.209615216C>G | CA1011766064 | LAMB3 | c.*55G>C (n.*55G>C) | dbSNP |
1 | g.209615217C>A | CA2650319273 | LAMB3 | c.*54G>T (n.*54G>T) | gnomAD v4 |
1 | g.209615219A= | CA2484294955 | LAMB3 | c.*52T= (n.*52T=) | |
1 | g.209615219A>G | CA36742891 | LAMB3 | c.*52T>C (n.*52T>C) | dbSNP |
1 | g.209615220C>A | CA2650319274 | LAMB3 | c.*51G>T (n.*51G>T) | gnomAD v4 |
1 | g.209615220C>T | CA2573655829 | LAMB3 | c.*51G>A (n.*51G>A) | |
1 | g.209615221C>A | CA2650319275 | LAMB3 | c.*50G>T (n.*50G>T) | gnomAD v4 |
1 | g.209615221C= | CA2484294956 | LAMB3 | c.*50G= (n.*50G=) | |
1 | g.209615221C>T | CA2484294957 | LAMB3 | c.*50G>A (n.*50G>A) | dbSNP gnomAD v4 |
1 | g.209615222A= | CA2484294958 | LAMB3 | c.*49T= (n.*49T=) | |
1 | g.209615222A>G | CA528652363 | LAMB3 | c.*49T>C (n.*49T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615225del | CA2650319276 | LAMB3 | c.*49del (n.*49del) | gnomAD v4 |
1 | g.209615228A>G | CA2650319277 | LAMB3 | c.*43T>C (n.*43T>C) | gnomAD v4 |
1 | g.209615231G>T | CA2573996992 | LAMB3 | c.*40C>A (n.*40C>A) | |
1 | g.209615232G>C | CA2747561635 | LAMB3 | c.*39C>G (n.*39C>G) | |
1 | g.209615233C>A | CA528652364 | LAMB3 | c.*38G>T (n.*38G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615233C= | CA2484294959 | LAMB3 | c.*38G= (n.*38G=) | |
1 | g.209615233C>T | CA1374823 | LAMB3 | c.*38G>A (n.*38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615234G>A | CA1374824 | LAMB3 | c.*37C>T (n.*37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615234G= | CA1145078872 | LAMB3 | c.*37C= (n.*37C=) | |
1 | g.209615234G>T | CA2650319282 | LAMB3 | c.*37C>A (n.*37C>A) | gnomAD v4 |
1 | g.209615235G= | CA2484294960 | LAMB3 | c.*36C= (n.*36C=) | |
1 | g.209615235G>T | CA2484294961 | LAMB3 | c.*36C>A (n.*36C>A) | dbSNP |
1 | g.209615236C>G | CA2650319284 | LAMB3 | c.*35G>C (n.*35G>C) | gnomAD v4 |
1 | g.209615237A= | CA2484294962 | LAMB3 | c.*34T= (n.*34T=) | |
1 | g.209615237A>G | CA2650319286 | LAMB3 | c.*34T>C (n.*34T>C) | gnomAD v4 |
1 | g.209615237A>T | CA2484294963 | LAMB3 | c.*34T>A (n.*34T>A) | dbSNP |
1 | g.209615239A= | CA2484294964 | LAMB3 | c.*32T= (n.*32T=) | |
1 | g.209615239A>C | CA36742898 | LAMB3 | c.*32T>G (n.*32T>G) | dbSNP |
1 | g.209615240T>C | CA528652365 | LAMB3 | c.*31A>G (n.*31A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209615240T= | CA2484294965 | LAMB3 | c.*31A= (n.*31A=) | |
1 | g.209615241G>A | CA1374825 | LAMB3 | c.*30C>T (n.*30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615241G= | CA1143517319 | LAMB3 | c.*30C= (n.*30C=) | |
1 | g.209615241G>T | CA2650319291 | LAMB3 | c.*30C>A (n.*30C>A) | gnomAD v4 |
1 | g.209615242A>T | CA2650319293 | LAMB3 | c.*29T>A (n.*29T>A) | gnomAD v4 |
1 | g.209615244T>G | CA1374826 | LAMB3 | c.*27A>C (n.*27A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615244T= | CA1147896919 | LAMB3 | c.*27A= (n.*27A=) | |
1 | g.209615245G>T | CA2573655830 | LAMB3 | c.*26C>A (n.*26C>A) | |
1 | g.209615246G>C | CA528652366 | LAMB3 | c.*25C>G (n.*25C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209615246G= | CA2484294966 | LAMB3 | c.*25C= (n.*25C=) | |
1 | g.209615247G>A | CA646385708 | LAMB3 | c.*24C>T (n.*24C>T) | gnomAD v4 COSMIC |
1 | g.209615248G>T | CA2747561636 | LAMB3 | c.*23C>A (n.*23C>A) | |
1 | g.209615249C= | CA2484294967 | LAMB3 | c.*22G= (n.*22G=) | |
1 | g.209615249C>T | CA1374827 | LAMB3 | c.*22G>A (n.*22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615251_209615273del | CA2573997047 | LAMB3 | c.3519_*22del (n.[c.3519_*22del;Ter1173CysextTer?]) c.3327_*22del (n.[c.3327_*22del;Ter1109CysextTer?]) | gnomAD v4 |
1 | g.209615251A>T | CA2573655831 | LAMB3 | c.*20T>A (n.*20T>A) | |
1 | g.209615252C= | CA1143649263 | LAMB3 | c.*19G= (n.*19G=) | |
1 | g.209615252C>T | CA1374828 | LAMB3 | c.*19G>A (n.*19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615253G>A | CA1374829 | LAMB3 | c.*18C>T (n.*18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615253G= | CA1143755650 | LAMB3 | c.*18C= (n.*18C=) | |
1 | g.209615255dup | CA528652367 | LAMB3 | c.*18dup (n.*18dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615254G>A | CA2484294969 | LAMB3 | c.*17C>T (n.*17C>T) | dbSNP |
1 | g.209615254G= | CA2484294968 | LAMB3 | c.*17C= (n.*17C=) | |
1 | g.209615255G>C | CA2566736757 | LAMB3 | c.*16C>G (n.*16C>G) | |
1 | g.209615255G= | CA2484294970 | LAMB3 | c.*16C= (n.*16C=) | |
1 | g.209615255G>T | CA730844330 | LAMB3 | c.*16C>A (n.*16C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209615256C>A | CA2484294972 | LAMB3 | c.*15G>T (n.*15G>T) | dbSNP gnomAD v4 |
1 | g.209615256C= | CA2484294971 | LAMB3 | c.*15G= (n.*15G=) | |
1 | g.209615256C>T | CA1011766065 | LAMB3 | c.*15G>A (n.*15G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209615257T>C | CA2650319311 | LAMB3 | c.*14A>G (n.*14A>G) | gnomAD v4 |
1 | g.209615258G>A | CA528652368 | LAMB3 | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615258G= | CA2484294973 | LAMB3 | c.*13C= (n.*13C=) | |
1 | g.209615259G>A | CA2747561637 | LAMB3 | c.*12C>T (n.*12C>T) | |
1 | g.209615260A= | CA2484294974 | LAMB3 | c.*11T= (n.*11T=) | |
1 | g.209615260A>C | CA2650319312 | LAMB3 | c.*11T>G (n.*11T>G) | gnomAD v4 |
1 | g.209615260A>G | CA2484294975 | LAMB3 | c.*11T>C (n.*11T>C) | dbSNP gnomAD v4 |
1 | g.209615262G>A | CA1374830 | LAMB3 | c.*9C>T (n.*9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615262G= | CA2484294976 | LAMB3 | c.*9C= (n.*9C=) | |
1 | g.209615263C>A | CA528652369 | LAMB3 | c.*8G>T (n.*8G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209615263C= | CA2484294977 | LAMB3 | c.*8G= (n.*8G=) | |
1 | g.209615265G>A | CA528652370 | LAMB3 | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209615265G>C | CA1374831 | LAMB3 | c.*6C>G (n.*6C>G) | dbSNP ExAC gnomAD v2 |
1 | g.209615265G= | CA2484294978 | LAMB3 | c.*6C= (n.*6C=) | |
1 | g.209615266T>C | CA2484294980 | LAMB3 | c.*5A>G (n.*5A>G) | dbSNP gnomAD v4 |
1 | g.209615266T= | CA2484294979 | LAMB3 | c.*5A= (n.*5A=) | |
1 | g.209615267A>G | CA2650319322 | LAMB3 | c.*4T>C (n.*4T>C) | gnomAD v4 |
1 | g.209615268G>C | CA2484294982 | LAMB3 | c.*3C>G (n.*3C>G) | dbSNP |
1 | g.209615268G= | CA2484294981 | LAMB3 | c.*3C= (n.*3C=) | |
1 | g.209615269C= | CA2484294983 | LAMB3 | c.*2G= (n.*2G=) | |
1 | g.209615269C>T | CA1374832 | LAMB3 | c.*2G>A (n.*2G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209615270A= | CA2484294985 | LAMB3 | c.*1T= (n.*1T=) | |
1 | g.209615270A>G | CA2484294984 | LAMB3 | c.*1T>C (n.*1T>C) | dbSNP gnomAD v4 |
1 | g.209615271T>A | CA344580447 | LAMB3 | c.3519A>T (p.Ter1173Cys) c.3327A>T (p.Ter1109Cys) | |
1 | g.209615271T>C | CA344580441 | LAMB3 | c.3519A>G (p.Ter1173Trp) c.3327A>G (p.Ter1109Trp) | |
1 | g.209615271T>G | CA344580445 | LAMB3 | c.3519A>C (p.Ter1173Cys) c.3327A>C (p.Ter1109Cys) | |
1 | g.209615271_209615273delinsTCA | CA2484294986 | LAMB3 | c.3517_3519delinsTGA (p.Ter1173=) c.3325_3327delinsTGA (p.Ter1109=) | |
1 | g.209615272C>A | CA344580452 | LAMB3 | c.3518G>T (p.Ter1173Leu) c.3326G>T (p.Ter1109Leu) | |
1 | g.209615272C>G | CA344580456 | LAMB3 | c.3518G>C (p.Ter1173Ser) c.3326G>C (p.Ter1109Ser) | |
1 | g.209615272C>T | CA423027914 | LAMB3 | c.3518G>A (p.Ter1173=) c.3326G>A (p.Ter1109=) | |
1 | g.209615273_209615274del | CA16040687 | LAMB3 | c.3517_3518del (p.Ter1173MetextTer?) c.3325_3326del (p.Ter1109MetextTer?) | ClinVar dbSNP |
1 | g.209615273A>C | CA344580465 | LAMB3 | c.3517T>G (p.Ter1173Gly) c.3325T>G (p.Ter1109Gly) | |
1 | g.209615273A>G | CA344580466 | LAMB3 | c.3517T>C (p.Ter1173Arg) c.3325T>C (p.Ter1109Arg) | |
1 | g.209615273A>T | CA344580468 | LAMB3 | c.3517T>A (p.Ter1173Arg) c.3325T>A (p.Ter1109Arg) | |
1 | g.209615274C>A | CA344580472 | LAMB3 | c.3516G>T (p.Lys1172Asn) c.3324G>T (p.Lys1108Asn) | |
1 | g.209615274C>G | CA344580475 | LAMB3 | c.3516G>C (p.Lys1172Asn) c.3324G>C (p.Lys1108Asn) | |
1 | g.209615274C>T | CA423027944 | LAMB3 | c.3516G>A (p.Lys1172=) c.3324G>A (p.Lys1108=) | |
1 | g.209615275T>A | CA344580478 | LAMB3 | c.3515A>T (p.Lys1172Met) c.3323A>T (p.Lys1108Met) | |
1 | g.209615275T>C | CA344580484 | LAMB3 | c.3515A>G (p.Lys1172Arg) c.3323A>G (p.Lys1108Arg) | |
1 | g.209615275T>G | CA344580485 | LAMB3 | c.3515A>C (p.Lys1172Thr) c.3323A>C (p.Lys1108Thr) | |
1 | g.209615276T>A | CA344580486 | LAMB3 | c.3514A>T (p.Lys1172Ter) c.3322A>T (p.Lys1108Ter) | |
1 | g.209615276T>C | CA344580488 | LAMB3 | c.3514A>G (p.Lys1172Glu) c.3322A>G (p.Lys1108Glu) | |
1 | g.209615276T>G | CA1374833 | LAMB3 | c.3514A>C (p.Lys1172Gln) c.3322A>C (p.Lys1108Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209615276T= | CA2484294987 | LAMB3 | c.3514A= (p.Lys1172=) c.3322A= (p.Lys1108=) | |
1 | g.209615277G>A | CA423027963 | LAMB3 | c.3513C>T (p.Cys1171=) c.3321C>T (p.Cys1107=) | dbSNP |
1 | g.209615277G>C | CA344580494 | LAMB3 | c.3513C>G (p.Cys1171Trp) c.3321C>G (p.Cys1107Trp) | |
1 | g.209615277G= | CA2484294988 | LAMB3 | c.3513C= (p.Cys1171=) c.3321C= (p.Cys1107=) | |
1 | g.209615277G>T | CA344580498 | LAMB3 | c.3513C>A (p.Cys1171Ter) c.3321C>A (p.Cys1107Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209615278C>A | CA344580501 | LAMB3 | c.3512G>T (p.Cys1171Phe) c.3320G>T (p.Cys1107Phe) | gnomAD v4 |
1 | g.209615278C>G | CA344580503 | LAMB3 | c.3512G>C (p.Cys1171Ser) c.3320G>C (p.Cys1107Ser) | |
1 | g.209615278C>T | CA344580506 | LAMB3 | c.3512G>A (p.Cys1171Tyr) c.3320G>A (p.Cys1107Tyr) | |
1 | g.209615279A>C | CA344580508 | LAMB3 | c.3511T>G (p.Cys1171Gly) c.3319T>G (p.Cys1107Gly) | |
1 | g.209615279A>G | CA344580510 | LAMB3 | c.3511T>C (p.Cys1171Arg) c.3319T>C (p.Cys1107Arg) | |
1 | g.209615279A>T | CA344580512 | LAMB3 | c.3511T>A (p.Cys1171Ser) c.3319T>A (p.Cys1107Ser) | |
1 | g.209615280G>A | CA423027975 | LAMB3 | c.3510C>T (p.Thr1170=) c.3318C>T (p.Thr1106=) | |
1 | g.209615280G>C | CA423027976 | LAMB3 | c.3510C>G (p.Thr1170=) c.3318C>G (p.Thr1106=) | |
1 | g.209615280G>T | CA423027978 | LAMB3 | c.3510C>A (p.Thr1170=) c.3318C>A (p.Thr1106=) | |
1 | g.209615281G>A | CA344580515 | LAMB3 | c.3509C>T (p.Thr1170Ile) c.3317C>T (p.Thr1106Ile) | |
1 | g.209615281G>C | CA344580521 | LAMB3 | c.3509C>G (p.Thr1170Ser) c.3317C>G (p.Thr1106Ser) | |
1 | g.209615281G>T | CA344580523 | LAMB3 | c.3509C>A (p.Thr1170Asn) c.3317C>A (p.Thr1106Asn) | |
1 | g.209615282T>A | CA344580529 | LAMB3 | c.3508A>T (p.Thr1170Ser) c.3316A>T (p.Thr1106Ser) | |
1 | g.209615282T>C | CA344580531 | LAMB3 | c.3508A>G (p.Thr1170Ala) c.3316A>G (p.Thr1106Ala) | |
1 | g.209615282T>G | CA344580527 | LAMB3 | c.3508A>C (p.Thr1170Pro) c.3316A>C (p.Thr1106Pro) | |
1 | g.209615283G>A | CA423027994 | LAMB3 | c.3507C>T (p.Ala1169=) c.3315C>T (p.Ala1105=) | ClinVar |
1 | g.209615283G>C | CA423027997 | LAMB3 | c.3507C>G (p.Ala1169=) c.3315C>G (p.Ala1105=) | |
1 | g.209615283G>T | CA423027999 | LAMB3 | c.3507C>A (p.Ala1169=) c.3315C>A (p.Ala1105=) | |
1 | g.209615284G>A | CA36742922 | LAMB3 | c.3506C>T (p.Ala1169Val) c.3314C>T (p.Ala1105Val) | dbSNP gnomAD v4 |
1 | g.209615284G>C | CA344580533 | LAMB3 | c.3506C>G (p.Ala1169Gly) c.3314C>G (p.Ala1105Gly) | |
1 | g.209615284G= | CA2484294989 | LAMB3 | c.3506C= (p.Ala1169=) c.3314C= (p.Ala1105=) | |
1 | g.209615284G>T | CA344580534 | LAMB3 | c.3506C>A (p.Ala1169Asp) c.3314C>A (p.Ala1105Asp) | |
1 | g.209615285C>A | CA344580536 | LAMB3 | c.3505G>T (p.Ala1169Ser) c.3313G>T (p.Ala1105Ser) | |
1 | g.209615285C>G | CA344580547 | LAMB3 | c.3505G>C (p.Ala1169Pro) c.3313G>C (p.Ala1105Pro) | |
1 | g.209615285C>T | CA344580548 | LAMB3 | c.3505G>A (p.Ala1169Thr) c.3313G>A (p.Ala1105Thr) | |
1 | g.209615286A>C | CA344580550 | LAMB3 | c.3504T>G (p.Tyr1168Ter) c.3312T>G (p.Tyr1104Ter) | gnomAD v4 |
1 | g.209615286A>G | CA423028018 | LAMB3 | c.3504T>C (p.Tyr1168=) c.3312T>C (p.Tyr1104=) | |
1 | g.209615286A>T | CA344580549 | LAMB3 | c.3504T>A (p.Tyr1168Ter) c.3312T>A (p.Tyr1104Ter) | |
1 | g.209615287T>A | CA344580551 | LAMB3 | c.3503A>T (p.Tyr1168Phe) c.3311A>T (p.Tyr1104Phe) | |
1 | g.209615287T>C | CA344580552 | LAMB3 | c.3503A>G (p.Tyr1168Cys) c.3311A>G (p.Tyr1104Cys) | gnomAD v4 |
1 | g.209615287T>G | CA344580553 | LAMB3 | c.3503A>C (p.Tyr1168Ser) c.3311A>C (p.Tyr1104Ser) | dbSNP |
1 | g.209615287T= | CA2484294990 | LAMB3 | c.3503A= (p.Tyr1168=) c.3311A= (p.Tyr1104=) | |
1 | g.209615288A>C | CA344580554 | LAMB3 | c.3502T>G (p.Tyr1168Asp) c.3310T>G (p.Tyr1104Asp) | |
1 | g.209615288A>G | CA344580555 | LAMB3 | c.3502T>C (p.Tyr1168His) c.3310T>C (p.Tyr1104His) | |
1 | g.209615288A>T | CA344580556 | LAMB3 | c.3502T>A (p.Tyr1168Asn) c.3310T>A (p.Tyr1104Asn) | |
1 | g.209615289G>A | CA1374834 | LAMB3 | c.3501C>T (p.Tyr1167=) c.3309C>T (p.Tyr1103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615289G>C | CA344580557 | LAMB3 | c.3501C>G (p.Tyr1167Ter) c.3309C>G (p.Tyr1103Ter) | |
1 | g.209615289G= | CA2484294991 | LAMB3 | c.3501C= (p.Tyr1167=) c.3309C= (p.Tyr1103=) | |
1 | g.209615289G>T | CA344580558 | LAMB3 | c.3501C>A (p.Tyr1167Ter) c.3309C>A (p.Tyr1103Ter) | |
1 | g.209615290T>A | CA344580559 | LAMB3 | c.3500A>T (p.Tyr1167Phe) c.3308A>T (p.Tyr1103Phe) | |
1 | g.209615290T>C | CA344580560 | LAMB3 | c.3500A>G (p.Tyr1167Cys) c.3308A>G (p.Tyr1103Cys) | |
1 | g.209615290T>G | CA344580561 | LAMB3 | c.3500A>C (p.Tyr1167Ser) c.3308A>C (p.Tyr1103Ser) | |
1 | g.209615291A>C | CA344580562 | LAMB3 | c.3499T>G (p.Tyr1167Asp) c.3307T>G (p.Tyr1103Asp) | |
1 | g.209615291A>G | CA344580563 | LAMB3 | c.3499T>C (p.Tyr1167His) c.3307T>C (p.Tyr1103His) | |
1 | g.209615291A>T | CA344580564 | LAMB3 | c.3499T>A (p.Tyr1167Asn) c.3307T>A (p.Tyr1103Asn) | |
1 | g.209615292G>A | CA36742931 | LAMB3 | c.3498C>T (p.Leu1166=) c.3306C>T (p.Leu1102=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615292G>C | CA1374835 | LAMB3 | c.3498C>G (p.Leu1166=) c.3306C>G (p.Leu1102=) | dbSNP ExAC gnomAD v2 |
1 | g.209615292G= | CA2484294992 | LAMB3 | c.3498C= (p.Leu1166=) c.3306C= (p.Leu1102=) | |
1 | g.209615292G>T | CA423028049 | LAMB3 | c.3498C>A (p.Leu1166=) c.3306C>A (p.Leu1102=) | |
1 | g.209615293A>C | CA344580565 | LAMB3 | c.3497T>G (p.Leu1166Arg) c.3305T>G (p.Leu1102Arg) | |
1 | g.209615293A>G | CA344580566 | LAMB3 | c.3497T>C (p.Leu1166Pro) c.3305T>C (p.Leu1102Pro) | |
1 | g.209615293A>T | CA344580567 | LAMB3 | c.3497T>A (p.Leu1166His) c.3305T>A (p.Leu1102His) | |
1 | g.209615294G>A | CA344580568 | LAMB3 | c.3496C>T (p.Leu1166Phe) c.3304C>T (p.Leu1102Phe) | |
1 | g.209615294G>C | CA344580571 | LAMB3 | c.3496C>G (p.Leu1166Val) c.3304C>G (p.Leu1102Val) | |
1 | g.209615294G>T | CA344580573 | LAMB3 | c.3496C>A (p.Leu1166Ile) c.3304C>A (p.Leu1102Ile) | |
1 | g.209615295C>A | CA423028069 | LAMB3 | c.3495G>T (p.Val1165=) c.3303G>T (p.Val1101=) | |
1 | g.209615295C>G | CA423028071 | LAMB3 | c.3495G>C (p.Val1165=) c.3303G>C (p.Val1101=) | |
1 | g.209615295C>T | CA423028074 | LAMB3 | c.3495G>A (p.Val1165=) c.3303G>A (p.Val1101=) | |
1 | g.209615296A= | CA1147765241 | LAMB3 | c.3494T= (p.Val1165=) c.3302T= (p.Val1101=) | |
1 | g.209615296A>C | CA344580580 | LAMB3 | c.3494T>G (p.Val1165Gly) c.3302T>G (p.Val1101Gly) | |
1 | g.209615296A>G | CA344580590 | LAMB3 | c.3494T>C (p.Val1165Ala) c.3302T>C (p.Val1101Ala) | |
1 | g.209615296A>T | CA1374836 | LAMB3 | c.3494T>A (p.Val1165Glu) c.3302T>A (p.Val1101Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615297C>A | CA344580596 | LAMB3 | c.3493G>T (p.Val1165Leu) c.3301G>T (p.Val1101Leu) | |
1 | g.209615297C= | CA1143919650 | LAMB3 | c.3493G= (p.Val1165=) c.3301G= (p.Val1101=) | |
1 | g.209615297C>G | CA344580599 | LAMB3 | c.3493G>C (p.Val1165Leu) c.3301G>C (p.Val1101Leu) | |
1 | g.209615297C>T | CA1374837 | LAMB3 | c.3493G>A (p.Val1165Met) c.3301G>A (p.Val1101Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209615300_209615301del | CA2586967978 | LAMB3 | c.3492_3493del (p.Val1165AlafsTer?) c.3300_3301del (p.Val1101AlafsTer?) | |
1 | g.209615298G>A | CA1374838 | LAMB3 | c.3492C>T (p.Arg1164=) c.3300C>T (p.Arg1100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.209615298G>C | CA423028091 | LAMB3 | c.3492C>G (p.Arg1164=) c.3300C>G (p.Arg1100=) | |
1 | g.209615298G= | CA2484294993 | LAMB3 | c.3492C= (p.Arg1164=) c.3300C= (p.Arg1100=) | |
1 | g.209615298G>T | CA423028093 | LAMB3 | c.3492C>A (p.Arg1164=) c.3300C>A (p.Arg1100=) |