| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23939322C>A | CA402048505 | LAMA3 | c.4135C>A (p.Gln1379Lys) c.8962C>A (p.Gln2988Lys) c.5557C>A (p.Gln1853Lys) c.8794C>A (p.Gln2932Lys) c.3967C>A (p.Gln1323Lys) n.3540C>A c.8989C>A (p.Gln2997Lys) c.8980C>A (p.Gln2994Lys) c.8971C>A (p.Gln2991Lys) c.8857C>A (p.Gln2953Lys) c.8692C>A (p.Gln2898Lys) c.6841C>A (p.Gln2281Lys) c.4531C>A (p.Gln1511Lys) n.9230C>A | |
| 18 | g.23939322C= | CA2290339028 | LAMA3 | c.4135C= (p.Gln1379=) c.8962C= (p.Gln2988=) c.5557C= (p.Gln1853=) c.8794C= (p.Gln2932=) c.3967C= (p.Gln1323=) n.3540C= c.8989C= (p.Gln2997=) c.8980C= (p.Gln2994=) c.8971C= (p.Gln2991=) c.8857C= (p.Gln2953=) c.8692C= (p.Gln2898=) c.6841C= (p.Gln2281=) c.4531C= (p.Gln1511=) n.9230C= | |
| 18 | g.23939322C>G | CA402048506 | LAMA3 | c.4135C>G (p.Gln1379Glu) c.8962C>G (p.Gln2988Glu) c.5557C>G (p.Gln1853Glu) c.8794C>G (p.Gln2932Glu) c.3967C>G (p.Gln1323Glu) n.3540C>G c.8989C>G (p.Gln2997Glu) c.8980C>G (p.Gln2994Glu) c.8971C>G (p.Gln2991Glu) c.8857C>G (p.Gln2953Glu) c.8692C>G (p.Gln2898Glu) c.6841C>G (p.Gln2281Glu) c.4531C>G (p.Gln1511Glu) n.9230C>G | |
| 18 | g.23939322C>T | CA254569 | LAMA3 | c.4135C>T (p.Gln1379Ter) c.8962C>T (p.Gln2988Ter) c.5557C>T (p.Gln1853Ter) c.8794C>T (p.Gln2932Ter) c.3967C>T (p.Gln1323Ter) n.3540C>T c.8989C>T (p.Gln2997Ter) c.8980C>T (p.Gln2994Ter) c.8971C>T (p.Gln2991Ter) c.8857C>T (p.Gln2953Ter) c.8692C>T (p.Gln2898Ter) c.6841C>T (p.Gln2281Ter) c.4531C>T (p.Gln1511Ter) n.9230C>T | ClinVar dbSNP |
| 18 | g.23939323A>C | CA402048507 | LAMA3 | c.4136A>C (p.Gln1379Pro) c.8963A>C (p.Gln2988Pro) c.5558A>C (p.Gln1853Pro) c.8795A>C (p.Gln2932Pro) c.3968A>C (p.Gln1323Pro) n.3541A>C c.8990A>C (p.Gln2997Pro) c.8981A>C (p.Gln2994Pro) c.8972A>C (p.Gln2991Pro) c.8858A>C (p.Gln2953Pro) c.8693A>C (p.Gln2898Pro) c.6842A>C (p.Gln2281Pro) c.4532A>C (p.Gln1511Pro) n.9231A>C | |
| 18 | g.23939323A>G | CA402048508 | LAMA3 | c.4136A>G (p.Gln1379Arg) c.8963A>G (p.Gln2988Arg) c.5558A>G (p.Gln1853Arg) c.8795A>G (p.Gln2932Arg) c.3968A>G (p.Gln1323Arg) n.3541A>G c.8990A>G (p.Gln2997Arg) c.8981A>G (p.Gln2994Arg) c.8972A>G (p.Gln2991Arg) c.8858A>G (p.Gln2953Arg) c.8693A>G (p.Gln2898Arg) c.6842A>G (p.Gln2281Arg) c.4532A>G (p.Gln1511Arg) n.9231A>G | |
| 18 | g.23939323A>T | CA402048509 | LAMA3 | c.4136A>T (p.Gln1379Leu) c.8963A>T (p.Gln2988Leu) c.5558A>T (p.Gln1853Leu) c.8795A>T (p.Gln2932Leu) c.3968A>T (p.Gln1323Leu) n.3541A>T c.8990A>T (p.Gln2997Leu) c.8981A>T (p.Gln2994Leu) c.8972A>T (p.Gln2991Leu) c.8858A>T (p.Gln2953Leu) c.8693A>T (p.Gln2898Leu) c.6842A>T (p.Gln2281Leu) c.4532A>T (p.Gln1511Leu) n.9231A>T | |
| 18 | g.23939324G>A | CA503326558 | LAMA3 | c.4137G>A (p.Gln1379=) c.8964G>A (p.Gln2988=) c.5559G>A (p.Gln1853=) c.8796G>A (p.Gln2932=) c.3969G>A (p.Gln1323=) n.3542G>A c.8991G>A (p.Gln2997=) c.8982G>A (p.Gln2994=) c.8973G>A (p.Gln2991=) c.8859G>A (p.Gln2953=) c.8694G>A (p.Gln2898=) c.6843G>A (p.Gln2281=) c.4533G>A (p.Gln1511=) n.9232G>A | gnomAD v4 |
| 18 | g.23939324G>C | CA402048510 | LAMA3 | c.4137G>C (p.Gln1379His) c.8964G>C (p.Gln2988His) c.5559G>C (p.Gln1853His) c.8796G>C (p.Gln2932His) c.3969G>C (p.Gln1323His) n.3542G>C c.8991G>C (p.Gln2997His) c.8982G>C (p.Gln2994His) c.8973G>C (p.Gln2991His) c.8859G>C (p.Gln2953His) c.8694G>C (p.Gln2898His) c.6843G>C (p.Gln2281His) c.4533G>C (p.Gln1511His) n.9232G>C | |
| 18 | g.23939324G>T | CA402048511 | LAMA3 | c.4137G>T (p.Gln1379His) c.8964G>T (p.Gln2988His) c.5559G>T (p.Gln1853His) c.8796G>T (p.Gln2932His) c.3969G>T (p.Gln1323His) n.3542G>T c.8991G>T (p.Gln2997His) c.8982G>T (p.Gln2994His) c.8973G>T (p.Gln2991His) c.8859G>T (p.Gln2953His) c.8694G>T (p.Gln2898His) c.6843G>T (p.Gln2281His) c.4533G>T (p.Gln1511His) n.9232G>T | |
| 18 | g.23939325T>A | CA402048512 | LAMA3 | c.4138T>A (p.Phe1380Ile) c.8965T>A (p.Phe2989Ile) c.5560T>A (p.Phe1854Ile) c.8797T>A (p.Phe2933Ile) c.3970T>A (p.Phe1324Ile) n.3543T>A c.8992T>A (p.Phe2998Ile) c.8983T>A (p.Phe2995Ile) c.8974T>A (p.Phe2992Ile) c.8860T>A (p.Phe2954Ile) c.8695T>A (p.Phe2899Ile) c.6844T>A (p.Phe2282Ile) c.4534T>A (p.Phe1512Ile) n.9233T>A | |
| 18 | g.23939325T>C | CA402048513 | LAMA3 | c.4138T>C (p.Phe1380Leu) c.8965T>C (p.Phe2989Leu) c.5560T>C (p.Phe1854Leu) c.8797T>C (p.Phe2933Leu) c.3970T>C (p.Phe1324Leu) n.3543T>C c.8992T>C (p.Phe2998Leu) c.8983T>C (p.Phe2995Leu) c.8974T>C (p.Phe2992Leu) c.8860T>C (p.Phe2954Leu) c.8695T>C (p.Phe2899Leu) c.6844T>C (p.Phe2282Leu) c.4534T>C (p.Phe1512Leu) n.9233T>C | |
| 18 | g.23939325T>G | CA402048514 | LAMA3 | c.4138T>G (p.Phe1380Val) c.8965T>G (p.Phe2989Val) c.5560T>G (p.Phe1854Val) c.8797T>G (p.Phe2933Val) c.3970T>G (p.Phe1324Val) n.3543T>G c.8992T>G (p.Phe2998Val) c.8983T>G (p.Phe2995Val) c.8974T>G (p.Phe2992Val) c.8860T>G (p.Phe2954Val) c.8695T>G (p.Phe2899Val) c.6844T>G (p.Phe2282Val) c.4534T>G (p.Phe1512Val) n.9233T>G | gnomAD v4 |
| 18 | g.23939326T>A | CA402048515 | LAMA3 | c.4139T>A (p.Phe1380Tyr) c.8966T>A (p.Phe2989Tyr) c.5561T>A (p.Phe1854Tyr) c.8798T>A (p.Phe2933Tyr) c.3971T>A (p.Phe1324Tyr) n.3544T>A c.8993T>A (p.Phe2998Tyr) c.8984T>A (p.Phe2995Tyr) c.8975T>A (p.Phe2992Tyr) c.8861T>A (p.Phe2954Tyr) c.8696T>A (p.Phe2899Tyr) c.6845T>A (p.Phe2282Tyr) c.4535T>A (p.Phe1512Tyr) n.9234T>A | |
| 18 | g.23939326T>C | CA8917045 | LAMA3 | c.4139T>C (p.Phe1380Ser) c.8966T>C (p.Phe2989Ser) c.5561T>C (p.Phe1854Ser) c.8798T>C (p.Phe2933Ser) c.3971T>C (p.Phe1324Ser) n.3544T>C c.8993T>C (p.Phe2998Ser) c.8984T>C (p.Phe2995Ser) c.8975T>C (p.Phe2992Ser) c.8861T>C (p.Phe2954Ser) c.8696T>C (p.Phe2899Ser) c.6845T>C (p.Phe2282Ser) c.4535T>C (p.Phe1512Ser) n.9234T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23939326T>G | CA402048516 | LAMA3 | c.4139T>G (p.Phe1380Cys) c.8966T>G (p.Phe2989Cys) c.5561T>G (p.Phe1854Cys) c.8798T>G (p.Phe2933Cys) c.3971T>G (p.Phe1324Cys) n.3544T>G c.8993T>G (p.Phe2998Cys) c.8984T>G (p.Phe2995Cys) c.8975T>G (p.Phe2992Cys) c.8861T>G (p.Phe2954Cys) c.8696T>G (p.Phe2899Cys) c.6845T>G (p.Phe2282Cys) c.4535T>G (p.Phe1512Cys) n.9234T>G | dbSNP |
| 18 | g.23939326T= | CA2290339029 | LAMA3 | c.4139T= (p.Phe1380=) c.8966T= (p.Phe2989=) c.5561T= (p.Phe1854=) c.8798T= (p.Phe2933=) c.3971T= (p.Phe1324=) n.3544T= c.8993T= (p.Phe2998=) c.8984T= (p.Phe2995=) c.8975T= (p.Phe2992=) c.8861T= (p.Phe2954=) c.8696T= (p.Phe2899=) c.6845T= (p.Phe2282=) c.4535T= (p.Phe1512=) n.9234T= | |
| 18 | g.23939327T>A | CA402048517 | LAMA3 | c.4140T>A (p.Phe1380Leu) c.8967T>A (p.Phe2989Leu) c.5562T>A (p.Phe1854Leu) c.8799T>A (p.Phe2933Leu) c.3972T>A (p.Phe1324Leu) n.3545T>A c.8994T>A (p.Phe2998Leu) c.8985T>A (p.Phe2995Leu) c.8976T>A (p.Phe2992Leu) c.8862T>A (p.Phe2954Leu) c.8697T>A (p.Phe2899Leu) c.6846T>A (p.Phe2282Leu) c.4536T>A (p.Phe1512Leu) n.9235T>A | |
| 18 | g.23939327T>C | CA503326570 | LAMA3 | c.4140T>C (p.Phe1380=) c.8967T>C (p.Phe2989=) c.5562T>C (p.Phe1854=) c.8799T>C (p.Phe2933=) c.3972T>C (p.Phe1324=) n.3545T>C c.8994T>C (p.Phe2998=) c.8985T>C (p.Phe2995=) c.8976T>C (p.Phe2992=) c.8862T>C (p.Phe2954=) c.8697T>C (p.Phe2899=) c.6846T>C (p.Phe2282=) c.4536T>C (p.Phe1512=) n.9235T>C | |
| 18 | g.23939327T>G | CA8917046 | LAMA3 | c.4140T>G (p.Phe1380Leu) c.8967T>G (p.Phe2989Leu) c.5562T>G (p.Phe1854Leu) c.8799T>G (p.Phe2933Leu) c.3972T>G (p.Phe1324Leu) n.3545T>G c.8994T>G (p.Phe2998Leu) c.8985T>G (p.Phe2995Leu) c.8976T>G (p.Phe2992Leu) c.8862T>G (p.Phe2954Leu) c.8697T>G (p.Phe2899Leu) c.6846T>G (p.Phe2282Leu) c.4536T>G (p.Phe1512Leu) n.9235T>G | dbSNP ExAC |
| 18 | g.23939327T= | CA2290339030 | LAMA3 | c.4140T= (p.Phe1380=) c.8967T= (p.Phe2989=) c.5562T= (p.Phe1854=) c.8799T= (p.Phe2933=) c.3972T= (p.Phe1324=) n.3545T= c.8994T= (p.Phe2998=) c.8985T= (p.Phe2995=) c.8976T= (p.Phe2992=) c.8862T= (p.Phe2954=) c.8697T= (p.Phe2899=) c.6846T= (p.Phe2282=) c.4536T= (p.Phe1512=) n.9235T= | |
| 18 | g.23939328G>A | CA402048520 | LAMA3 | c.4141G>A (p.Gly1381Arg) c.8968G>A (p.Gly2990Arg) c.5563G>A (p.Gly1855Arg) c.8800G>A (p.Gly2934Arg) c.3973G>A (p.Gly1325Arg) n.3546G>A c.8995G>A (p.Gly2999Arg) c.8986G>A (p.Gly2996Arg) c.8977G>A (p.Gly2993Arg) c.8863G>A (p.Gly2955Arg) c.8698G>A (p.Gly2900Arg) c.6847G>A (p.Gly2283Arg) c.4537G>A (p.Gly1513Arg) n.9236G>A | |
| 18 | g.23939328G>C | CA402048519 | LAMA3 | c.4141G>C (p.Gly1381Arg) c.8968G>C (p.Gly2990Arg) c.5563G>C (p.Gly1855Arg) c.8800G>C (p.Gly2934Arg) c.3973G>C (p.Gly1325Arg) n.3546G>C c.8995G>C (p.Gly2999Arg) c.8986G>C (p.Gly2996Arg) c.8977G>C (p.Gly2993Arg) c.8863G>C (p.Gly2955Arg) c.8698G>C (p.Gly2900Arg) c.6847G>C (p.Gly2283Arg) c.4537G>C (p.Gly1513Arg) n.9236G>C | |
| 18 | g.23939328G>T | CA402048518 | LAMA3 | c.4141G>T (p.Gly1381Trp) c.8968G>T (p.Gly2990Trp) c.5563G>T (p.Gly1855Trp) c.8800G>T (p.Gly2934Trp) c.3973G>T (p.Gly1325Trp) n.3546G>T c.8995G>T (p.Gly2999Trp) c.8986G>T (p.Gly2996Trp) c.8977G>T (p.Gly2993Trp) c.8863G>T (p.Gly2955Trp) c.8698G>T (p.Gly2900Trp) c.6847G>T (p.Gly2283Trp) c.4537G>T (p.Gly1513Trp) n.9236G>T | |
| 18 | g.23939331dup | CA16041941 | LAMA3 | c.4144dup (p.Asp1382GlyfsTer?) c.8971dup (p.Asp2991GlyfsTer?) c.5566dup (p.Asp1856GlyfsTer?) c.8803dup (p.Asp2935GlyfsTer?) c.3976dup (p.Asp1326GlyfsTer?) n.3549dup c.8998dup (p.Asp3000GlyfsTer?) c.8989dup (p.Asp2997GlyfsTer?) c.8980dup (p.Asp2994GlyfsTer?) c.8866dup (p.Asp2956GlyfsTer?) c.8701dup (p.Asp2901GlyfsTer?) c.6850dup (p.Asp2284GlyfsTer?) c.4540dup (p.Asp1514GlyfsTer?) n.9239dup | ClinVar dbSNP |
| 18 | g.23939329G>A | CA402048521 | LAMA3 | c.4142G>A (p.Gly1381Glu) c.8969G>A (p.Gly2990Glu) c.5564G>A (p.Gly1855Glu) c.8801G>A (p.Gly2934Glu) c.3974G>A (p.Gly1325Glu) n.3547G>A c.8996G>A (p.Gly2999Glu) c.8987G>A (p.Gly2996Glu) c.8978G>A (p.Gly2993Glu) c.8864G>A (p.Gly2955Glu) c.8699G>A (p.Gly2900Glu) c.6848G>A (p.Gly2283Glu) c.4538G>A (p.Gly1513Glu) n.9237G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23939329G>C | CA402048522 | LAMA3 | c.4142G>C (p.Gly1381Ala) c.8969G>C (p.Gly2990Ala) c.5564G>C (p.Gly1855Ala) c.8801G>C (p.Gly2934Ala) c.3974G>C (p.Gly1325Ala) n.3547G>C c.8996G>C (p.Gly2999Ala) c.8987G>C (p.Gly2996Ala) c.8978G>C (p.Gly2993Ala) c.8864G>C (p.Gly2955Ala) c.8699G>C (p.Gly2900Ala) c.6848G>C (p.Gly2283Ala) c.4538G>C (p.Gly1513Ala) n.9237G>C | |
| 18 | g.23939329G= | CA2290339031 | LAMA3 | c.4142G= (p.Gly1381=) c.8969G= (p.Gly2990=) c.5564G= (p.Gly1855=) c.8801G= (p.Gly2934=) c.3974G= (p.Gly1325=) n.3547G= c.8996G= (p.Gly2999=) c.8987G= (p.Gly2996=) c.8978G= (p.Gly2993=) c.8864G= (p.Gly2955=) c.8699G= (p.Gly2900=) c.6848G= (p.Gly2283=) c.4538G= (p.Gly1513=) n.9237G= | |
| 18 | g.23939329G>T | CA402048523 | LAMA3 | c.4142G>T (p.Gly1381Val) c.8969G>T (p.Gly2990Val) c.5564G>T (p.Gly1855Val) c.8801G>T (p.Gly2934Val) c.3974G>T (p.Gly1325Val) n.3547G>T c.8996G>T (p.Gly2999Val) c.8987G>T (p.Gly2996Val) c.8978G>T (p.Gly2993Val) c.8864G>T (p.Gly2955Val) c.8699G>T (p.Gly2900Val) c.6848G>T (p.Gly2283Val) c.4538G>T (p.Gly1513Val) n.9237G>T | |
| 18 | g.23939330G>A | CA503326578 | LAMA3 | c.4143G>A (p.Gly1381=) c.8970G>A (p.Gly2990=) c.5565G>A (p.Gly1855=) c.8802G>A (p.Gly2934=) c.3975G>A (p.Gly1325=) n.3548G>A c.8997G>A (p.Gly2999=) c.8988G>A (p.Gly2996=) c.8979G>A (p.Gly2993=) c.8865G>A (p.Gly2955=) c.8700G>A (p.Gly2900=) c.6849G>A (p.Gly2283=) c.4539G>A (p.Gly1513=) n.9238G>A | gnomAD v4 COSMIC COSMIC |
| 18 | g.23939330G>C | CA503326580 | LAMA3 | c.4143G>C (p.Gly1381=) c.8970G>C (p.Gly2990=) c.5565G>C (p.Gly1855=) c.8802G>C (p.Gly2934=) c.3975G>C (p.Gly1325=) n.3548G>C c.8997G>C (p.Gly2999=) c.8988G>C (p.Gly2996=) c.8979G>C (p.Gly2993=) c.8865G>C (p.Gly2955=) c.8700G>C (p.Gly2900=) c.6849G>C (p.Gly2283=) c.4539G>C (p.Gly1513=) n.9238G>C | dbSNP gnomAD v2 |
| 18 | g.23939330G= | CA2290339032 | LAMA3 | c.4143G= (p.Gly1381=) c.8970G= (p.Gly2990=) c.5565G= (p.Gly1855=) c.8802G= (p.Gly2934=) c.3975G= (p.Gly1325=) n.3548G= c.8997G= (p.Gly2999=) c.8988G= (p.Gly2996=) c.8979G= (p.Gly2993=) c.8865G= (p.Gly2955=) c.8700G= (p.Gly2900=) c.6849G= (p.Gly2283=) c.4539G= (p.Gly1513=) n.9238G= | |
| 18 | g.23939330G>T | CA503326582 | LAMA3 | c.4143G>T (p.Gly1381=) c.8970G>T (p.Gly2990=) c.5565G>T (p.Gly1855=) c.8802G>T (p.Gly2934=) c.3975G>T (p.Gly1325=) n.3548G>T c.8997G>T (p.Gly2999=) c.8988G>T (p.Gly2996=) c.8979G>T (p.Gly2993=) c.8865G>T (p.Gly2955=) c.8700G>T (p.Gly2900=) c.6849G>T (p.Gly2283=) c.4539G>T (p.Gly1513=) n.9238G>T | |
| 18 | g.23939331G>A | CA297095210 | LAMA3 | c.4144G>A (p.Asp1382Asn) c.8971G>A (p.Asp2991Asn) c.5566G>A (p.Asp1856Asn) c.8803G>A (p.Asp2935Asn) c.3976G>A (p.Asp1326Asn) n.3549G>A c.8998G>A (p.Asp3000Asn) c.8989G>A (p.Asp2997Asn) c.8980G>A (p.Asp2994Asn) c.8866G>A (p.Asp2956Asn) c.8701G>A (p.Asp2901Asn) c.6850G>A (p.Asp2284Asn) c.4540G>A (p.Asp1514Asn) n.9239G>A | dbSNP gnomAD v4 |
| 18 | g.23939331G>C | CA8917047 | LAMA3 | c.4144G>C (p.Asp1382His) c.8971G>C (p.Asp2991His) c.5566G>C (p.Asp1856His) c.8803G>C (p.Asp2935His) c.3976G>C (p.Asp1326His) n.3549G>C c.8998G>C (p.Asp3000His) c.8989G>C (p.Asp2997His) c.8980G>C (p.Asp2994His) c.8866G>C (p.Asp2956His) c.8701G>C (p.Asp2901His) c.6850G>C (p.Asp2284His) c.4540G>C (p.Asp1514His) n.9239G>C | dbSNP ExAC |
| 18 | g.23939331G= | CA2290339033 | LAMA3 | c.4144G= (p.Asp1382=) c.8971G= (p.Asp2991=) c.5566G= (p.Asp1856=) c.8803G= (p.Asp2935=) c.3976G= (p.Asp1326=) n.3549G= c.8998G= (p.Asp3000=) c.8989G= (p.Asp2997=) c.8980G= (p.Asp2994=) c.8866G= (p.Asp2956=) c.8701G= (p.Asp2901=) c.6850G= (p.Asp2284=) c.4540G= (p.Asp1514=) n.9239G= | |
| 18 | g.23939331G>T | CA402048524 | LAMA3 | c.4144G>T (p.Asp1382Tyr) c.8971G>T (p.Asp2991Tyr) c.5566G>T (p.Asp1856Tyr) c.8803G>T (p.Asp2935Tyr) c.3976G>T (p.Asp1326Tyr) n.3549G>T c.8998G>T (p.Asp3000Tyr) c.8989G>T (p.Asp2997Tyr) c.8980G>T (p.Asp2994Tyr) c.8866G>T (p.Asp2956Tyr) c.8701G>T (p.Asp2901Tyr) c.6850G>T (p.Asp2284Tyr) c.4540G>T (p.Asp1514Tyr) n.9239G>T | |
| 18 | g.23939332A>C | CA402048525 | LAMA3 | c.4145A>C (p.Asp1382Ala) c.8972A>C (p.Asp2991Ala) c.5567A>C (p.Asp1856Ala) c.8804A>C (p.Asp2935Ala) c.3977A>C (p.Asp1326Ala) n.3550A>C c.8999A>C (p.Asp3000Ala) c.8990A>C (p.Asp2997Ala) c.8981A>C (p.Asp2994Ala) c.8867A>C (p.Asp2956Ala) c.8702A>C (p.Asp2901Ala) c.6851A>C (p.Asp2284Ala) c.4541A>C (p.Asp1514Ala) n.9240A>C | |
| 18 | g.23939332A>G | CA402048526 | LAMA3 | c.4145A>G (p.Asp1382Gly) c.8972A>G (p.Asp2991Gly) c.5567A>G (p.Asp1856Gly) c.8804A>G (p.Asp2935Gly) c.3977A>G (p.Asp1326Gly) n.3550A>G c.8999A>G (p.Asp3000Gly) c.8990A>G (p.Asp2997Gly) c.8981A>G (p.Asp2994Gly) c.8867A>G (p.Asp2956Gly) c.8702A>G (p.Asp2901Gly) c.6851A>G (p.Asp2284Gly) c.4541A>G (p.Asp1514Gly) n.9240A>G | |
| 18 | g.23939332A>T | CA402048527 | LAMA3 | c.4145A>T (p.Asp1382Val) c.8972A>T (p.Asp2991Val) c.5567A>T (p.Asp1856Val) c.8804A>T (p.Asp2935Val) c.3977A>T (p.Asp1326Val) n.3550A>T c.8999A>T (p.Asp3000Val) c.8990A>T (p.Asp2997Val) c.8981A>T (p.Asp2994Val) c.8867A>T (p.Asp2956Val) c.8702A>T (p.Asp2901Val) c.6851A>T (p.Asp2284Val) c.4541A>T (p.Asp1514Val) n.9240A>T | |
| 18 | g.23939333C>A | CA8917048 | LAMA3 | c.4146C>A (p.Asp1382Glu) c.8973C>A (p.Asp2991Glu) c.5568C>A (p.Asp1856Glu) c.8805C>A (p.Asp2935Glu) c.3978C>A (p.Asp1326Glu) n.3551C>A c.9000C>A (p.Asp3000Glu) c.8991C>A (p.Asp2997Glu) c.8982C>A (p.Asp2994Glu) c.8868C>A (p.Asp2956Glu) c.8703C>A (p.Asp2901Glu) c.6852C>A (p.Asp2284Glu) c.4542C>A (p.Asp1514Glu) n.9241C>A | dbSNP ExAC |
| 18 | g.23939333C= | CA2290339034 | LAMA3 | c.4146C= (p.Asp1382=) c.8973C= (p.Asp2991=) c.5568C= (p.Asp1856=) c.8805C= (p.Asp2935=) c.3978C= (p.Asp1326=) n.3551C= c.9000C= (p.Asp3000=) c.8991C= (p.Asp2997=) c.8982C= (p.Asp2994=) c.8868C= (p.Asp2956=) c.8703C= (p.Asp2901=) c.6852C= (p.Asp2284=) c.4542C= (p.Asp1514=) n.9241C= | |
| 18 | g.23939333C>G | CA402048528 | LAMA3 | c.4146C>G (p.Asp1382Glu) c.8973C>G (p.Asp2991Glu) c.5568C>G (p.Asp1856Glu) c.8805C>G (p.Asp2935Glu) c.3978C>G (p.Asp1326Glu) n.3551C>G c.9000C>G (p.Asp3000Glu) c.8991C>G (p.Asp2997Glu) c.8982C>G (p.Asp2994Glu) c.8868C>G (p.Asp2956Glu) c.8703C>G (p.Asp2901Glu) c.6852C>G (p.Asp2284Glu) c.4542C>G (p.Asp1514Glu) n.9241C>G | |
| 18 | g.23939333C>T | CA503326592 | LAMA3 | c.4146C>T (p.Asp1382=) c.8973C>T (p.Asp2991=) c.5568C>T (p.Asp1856=) c.8805C>T (p.Asp2935=) c.3978C>T (p.Asp1326=) n.3551C>T c.9000C>T (p.Asp3000=) c.8991C>T (p.Asp2997=) c.8982C>T (p.Asp2994=) c.8868C>T (p.Asp2956=) c.8703C>T (p.Asp2901=) c.6852C>T (p.Asp2284=) c.4542C>T (p.Asp1514=) n.9241C>T | ClinVar |
| 18 | g.23939334A= | CA2290339035 | LAMA3 | c.4147A= (p.Ile1383=) c.8974A= (p.Ile2992=) c.5569A= (p.Ile1857=) c.8806A= (p.Ile2936=) c.3979A= (p.Ile1327=) n.3552A= c.9001A= (p.Ile3001=) c.8992A= (p.Ile2998=) c.8983A= (p.Ile2995=) c.8869A= (p.Ile2957=) c.8704A= (p.Ile2902=) c.6853A= (p.Ile2285=) c.4543A= (p.Ile1515=) n.9242A= | |
| 18 | g.23939334A>C | CA402048529 | LAMA3 | c.4147A>C (p.Ile1383Leu) c.8974A>C (p.Ile2992Leu) c.5569A>C (p.Ile1857Leu) c.8806A>C (p.Ile2936Leu) c.3979A>C (p.Ile1327Leu) n.3552A>C c.9001A>C (p.Ile3001Leu) c.8992A>C (p.Ile2998Leu) c.8983A>C (p.Ile2995Leu) c.8869A>C (p.Ile2957Leu) c.8704A>C (p.Ile2902Leu) c.6853A>C (p.Ile2285Leu) c.4543A>C (p.Ile1515Leu) n.9242A>C | |
| 18 | g.23939334A>G | CA402048530 | LAMA3 | c.4147A>G (p.Ile1383Val) c.8974A>G (p.Ile2992Val) c.5569A>G (p.Ile1857Val) c.8806A>G (p.Ile2936Val) c.3979A>G (p.Ile1327Val) n.3552A>G c.9001A>G (p.Ile3001Val) c.8992A>G (p.Ile2998Val) c.8983A>G (p.Ile2995Val) c.8869A>G (p.Ile2957Val) c.8704A>G (p.Ile2902Val) c.6853A>G (p.Ile2285Val) c.4543A>G (p.Ile1515Val) n.9242A>G | |
| 18 | g.23939334A>T | CA8917049 | LAMA3 | c.4147A>T (p.Ile1383Phe) c.8974A>T (p.Ile2992Phe) c.5569A>T (p.Ile1857Phe) c.8806A>T (p.Ile2936Phe) c.3979A>T (p.Ile1327Phe) n.3552A>T c.9001A>T (p.Ile3001Phe) c.8992A>T (p.Ile2998Phe) c.8983A>T (p.Ile2995Phe) c.8869A>T (p.Ile2957Phe) c.8704A>T (p.Ile2902Phe) c.6853A>T (p.Ile2285Phe) c.4543A>T (p.Ile1515Phe) n.9242A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23939335T>A | CA402048532 | LAMA3 | c.4148T>A (p.Ile1383Asn) c.8975T>A (p.Ile2992Asn) c.5570T>A (p.Ile1857Asn) c.8807T>A (p.Ile2936Asn) c.3980T>A (p.Ile1327Asn) n.3553T>A c.9002T>A (p.Ile3001Asn) c.8993T>A (p.Ile2998Asn) c.8984T>A (p.Ile2995Asn) c.8870T>A (p.Ile2957Asn) c.8705T>A (p.Ile2902Asn) c.6854T>A (p.Ile2285Asn) c.4544T>A (p.Ile1515Asn) n.9243T>A | |
| 18 | g.23939335T>C | CA402048533 | LAMA3 | c.4148T>C (p.Ile1383Thr) c.8975T>C (p.Ile2992Thr) c.5570T>C (p.Ile1857Thr) c.8807T>C (p.Ile2936Thr) c.3980T>C (p.Ile1327Thr) n.3553T>C c.9002T>C (p.Ile3001Thr) c.8993T>C (p.Ile2998Thr) c.8984T>C (p.Ile2995Thr) c.8870T>C (p.Ile2957Thr) c.8705T>C (p.Ile2902Thr) c.6854T>C (p.Ile2285Thr) c.4544T>C (p.Ile1515Thr) n.9243T>C |