Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209615179C>A | CA2650319249 | LAMB3 | c.*92G>T (n.*92G>T) | gnomAD v4 |
1 | g.209615179C>G | CA2650319247 | LAMB3 | c.*92G>C (n.*92G>C) | gnomAD v4 |
1 | g.209615179C>T | CA2650319248 | LAMB3 | c.*92G>A (n.*92G>A) | gnomAD v4 |
1 | g.209615180T>A | CA2484294939 | LAMB3 | c.*91A>T (n.*91A>T) | dbSNP |
1 | g.209615180T>C | CA2650319250 | LAMB3 | c.*91A>G (n.*91A>G) | gnomAD v4 |
1 | g.209615180T= | CA2484294938 | LAMB3 | c.*91A= (n.*91A=) | |
1 | g.209615181C>T | CA2573996886 | LAMB3 | c.*90G>A (n.*90G>A) | gnomAD v4 |
1 | g.209615182C= | CA2484294940 | LAMB3 | c.*89G= (n.*89G=) | |
1 | g.209615182C>T | CA2484294941 | LAMB3 | c.*89G>A (n.*89G>A) | dbSNP gnomAD v4 |
1 | g.209615183T>C | CA2573996925 | LAMB3 | c.*88A>G (n.*88A>G) | |
1 | g.209615184G>T | CA2650319252 | LAMB3 | c.*87C>A (n.*87C>A) | gnomAD v4 |
1 | g.209615185del | CA2650319251 | LAMB3 | c.*87del (n.*87del) | gnomAD v4 |
1 | g.209615185G>A | CA2650319253 | LAMB3 | c.*86C>T (n.*86C>T) | gnomAD v4 |
1 | g.209615185G>T | CA2650319254 | LAMB3 | c.*86C>A (n.*86C>A) | gnomAD v4 |
1 | g.209615187G>T | CA2650319255 | LAMB3 | c.*84C>A (n.*84C>A) | gnomAD v4 |
1 | g.209615190G>T | CA2650319256 | LAMB3 | c.*81C>A (n.*81C>A) | gnomAD v4 |
1 | g.209615191G>T | CA2650319257 | LAMB3 | c.*80C>A (n.*80C>A) | gnomAD v4 |
1 | g.209615195G>A | CA36742875 | LAMB3 | c.*76C>T (n.*76C>T) | dbSNP gnomAD v4 |
1 | g.209615195G= | CA2484294942 | LAMB3 | c.*76C= (n.*76C=) | |
1 | g.209615195G>T | CA2650319258 | LAMB3 | c.*76C>A (n.*76C>A) | gnomAD v4 |
1 | g.209615196C>A | CA2650319259 | LAMB3 | c.*75G>T (n.*75G>T) | gnomAD v4 |
1 | g.209615196C>T | CA2650319260 | LAMB3 | c.*75G>A (n.*75G>A) | gnomAD v4 |
1 | g.209615197A= | CA2484294943 | LAMB3 | c.*74T= (n.*74T=) | |
1 | g.209615197A>C | CA2650319261 | LAMB3 | c.*74T>G (n.*74T>G) | gnomAD v4 |
1 | g.209615197A>G | CA2650319262 | LAMB3 | c.*74T>C (n.*74T>C) | gnomAD v4 |
1 | g.209615197A>T | CA2484294944 | LAMB3 | c.*74T>A (n.*74T>A) | dbSNP |
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) |