Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23928677T>A | CA402063940 | LAMA3 | c.3521T>A (p.Leu1174Ter) c.8348T>A (p.Leu2783Ter) c.4943T>A (p.Leu1648Ter) c.8180T>A (p.Leu2727Ter) c.3126T>A c.3353T>A (p.Leu1118Ter) c.53T>A (p.Leu18Ter) n.2926T>A c.8375T>A (p.Leu2792Ter) c.8366T>A (p.Leu2789Ter) c.8357T>A (p.Leu2786Ter) c.8243T>A (p.Leu2748Ter) c.8078T>A (p.Leu2693Ter) c.6227T>A (p.Leu2076Ter) c.3917T>A (p.Leu1306Ter) n.8616T>A | |
18 | g.23928677T>C | CA402063938 | LAMA3 | c.3521T>C (p.Leu1174Ser) c.8348T>C (p.Leu2783Ser) c.4943T>C (p.Leu1648Ser) c.8180T>C (p.Leu2727Ser) c.3126T>C c.3353T>C (p.Leu1118Ser) c.53T>C (p.Leu18Ser) n.2926T>C c.8375T>C (p.Leu2792Ser) c.8366T>C (p.Leu2789Ser) c.8357T>C (p.Leu2786Ser) c.8243T>C (p.Leu2748Ser) c.8078T>C (p.Leu2693Ser) c.6227T>C (p.Leu2076Ser) c.3917T>C (p.Leu1306Ser) n.8616T>C | |
18 | g.23928677T>G | CA402063939 | LAMA3 | c.3521T>G (p.Leu1174Trp) c.8348T>G (p.Leu2783Trp) c.4943T>G (p.Leu1648Trp) c.8180T>G (p.Leu2727Trp) c.3126T>G c.3353T>G (p.Leu1118Trp) c.53T>G (p.Leu18Trp) n.2926T>G c.8375T>G (p.Leu2792Trp) c.8366T>G (p.Leu2789Trp) c.8357T>G (p.Leu2786Trp) c.8243T>G (p.Leu2748Trp) c.8078T>G (p.Leu2693Trp) c.6227T>G (p.Leu2076Trp) c.3917T>G (p.Leu1306Trp) n.8616T>G | |
18 | g.23928678G>A | CA503340782 | LAMA3 | c.3522G>A (p.Leu1174=) c.8349G>A (p.Leu2783=) c.4944G>A (p.Leu1648=) c.8181G>A (p.Leu2727=) c.3127G>A c.3354G>A (p.Leu1118=) c.54G>A (p.Leu18=) n.2927G>A c.8376G>A (p.Leu2792=) c.8367G>A (p.Leu2789=) c.8358G>A (p.Leu2786=) c.8244G>A (p.Leu2748=) c.8079G>A (p.Leu2693=) c.6228G>A (p.Leu2076=) c.3918G>A (p.Leu1306=) n.8617G>A | |
18 | g.23928678G>C | CA402063943 | LAMA3 | c.3522G>C (p.Leu1174Phe) c.8349G>C (p.Leu2783Phe) c.4944G>C (p.Leu1648Phe) c.8181G>C (p.Leu2727Phe) c.3127G>C c.3354G>C (p.Leu1118Phe) c.54G>C (p.Leu18Phe) n.2927G>C c.8376G>C (p.Leu2792Phe) c.8367G>C (p.Leu2789Phe) c.8358G>C (p.Leu2786Phe) c.8244G>C (p.Leu2748Phe) c.8079G>C (p.Leu2693Phe) c.6228G>C (p.Leu2076Phe) c.3918G>C (p.Leu1306Phe) n.8617G>C | |
18 | g.23928678G>T | CA402063944 | LAMA3 | c.3522G>T (p.Leu1174Phe) c.8349G>T (p.Leu2783Phe) c.4944G>T (p.Leu1648Phe) c.8181G>T (p.Leu2727Phe) c.3127G>T c.3354G>T (p.Leu1118Phe) c.54G>T (p.Leu18Phe) n.2927G>T c.8376G>T (p.Leu2792Phe) c.8367G>T (p.Leu2789Phe) c.8358G>T (p.Leu2786Phe) c.8244G>T (p.Leu2748Phe) c.8079G>T (p.Leu2693Phe) c.6228G>T (p.Leu2076Phe) c.3918G>T (p.Leu1306Phe) n.8617G>T | |
18 | g.23928679G>A | CA402063946 | LAMA3 | c.3523G>A (p.Gly1175Ser) c.8350G>A (p.Gly2784Ser) c.4945G>A (p.Gly1649Ser) c.8182G>A (p.Gly2728Ser) c.3128G>A c.3355G>A (p.Gly1119Ser) c.55G>A (p.Gly19Ser) n.2928G>A c.8377G>A (p.Gly2793Ser) c.8368G>A (p.Gly2790Ser) c.8359G>A (p.Gly2787Ser) c.8245G>A (p.Gly2749Ser) c.8080G>A (p.Gly2694Ser) c.6229G>A (p.Gly2077Ser) c.3919G>A (p.Gly1307Ser) n.8618G>A | |
18 | g.23928679G>C | CA402063948 | LAMA3 | c.3523G>C (p.Gly1175Arg) c.8350G>C (p.Gly2784Arg) c.4945G>C (p.Gly1649Arg) c.8182G>C (p.Gly2728Arg) c.3128G>C c.3355G>C (p.Gly1119Arg) c.55G>C (p.Gly19Arg) n.2928G>C c.8377G>C (p.Gly2793Arg) c.8368G>C (p.Gly2790Arg) c.8359G>C (p.Gly2787Arg) c.8245G>C (p.Gly2749Arg) c.8080G>C (p.Gly2694Arg) c.6229G>C (p.Gly2077Arg) c.3919G>C (p.Gly1307Arg) n.8618G>C | |
18 | g.23928679G>T | CA402063950 | LAMA3 | c.3523G>T (p.Gly1175Cys) c.8350G>T (p.Gly2784Cys) c.4945G>T (p.Gly1649Cys) c.8182G>T (p.Gly2728Cys) c.3128G>T c.3355G>T (p.Gly1119Cys) c.55G>T (p.Gly19Cys) n.2928G>T c.8377G>T (p.Gly2793Cys) c.8368G>T (p.Gly2790Cys) c.8359G>T (p.Gly2787Cys) c.8245G>T (p.Gly2749Cys) c.8080G>T (p.Gly2694Cys) c.6229G>T (p.Gly2077Cys) c.3919G>T (p.Gly1307Cys) n.8618G>T | |
18 | g.23928680G>A | CA402063956 | LAMA3 | c.3524G>A (p.Gly1175Asp) c.8351G>A (p.Gly2784Asp) c.4946G>A (p.Gly1649Asp) c.8183G>A (p.Gly2728Asp) c.3129G>A c.3356G>A (p.Gly1119Asp) c.56G>A (p.Gly19Asp) n.2929G>A c.8378G>A (p.Gly2793Asp) c.8369G>A (p.Gly2790Asp) c.8360G>A (p.Gly2787Asp) c.8246G>A (p.Gly2749Asp) c.8081G>A (p.Gly2694Asp) c.6230G>A (p.Gly2077Asp) c.3920G>A (p.Gly1307Asp) n.8619G>A | |
18 | g.23928680G>C | CA402063952 | LAMA3 | c.3524G>C (p.Gly1175Ala) c.8351G>C (p.Gly2784Ala) c.4946G>C (p.Gly1649Ala) c.8183G>C (p.Gly2728Ala) c.3129G>C c.3356G>C (p.Gly1119Ala) c.56G>C (p.Gly19Ala) n.2929G>C c.8378G>C (p.Gly2793Ala) c.8369G>C (p.Gly2790Ala) c.8360G>C (p.Gly2787Ala) c.8246G>C (p.Gly2749Ala) c.8081G>C (p.Gly2694Ala) c.6230G>C (p.Gly2077Ala) c.3920G>C (p.Gly1307Ala) n.8619G>C | |
18 | g.23928680G>T | CA402063954 | LAMA3 | c.3524G>T (p.Gly1175Val) c.8351G>T (p.Gly2784Val) c.4946G>T (p.Gly1649Val) c.8183G>T (p.Gly2728Val) c.3129G>T c.3356G>T (p.Gly1119Val) c.56G>T (p.Gly19Val) n.2929G>T c.8378G>T (p.Gly2793Val) c.8369G>T (p.Gly2790Val) c.8360G>T (p.Gly2787Val) c.8246G>T (p.Gly2749Val) c.8081G>T (p.Gly2694Val) c.6230G>T (p.Gly2077Val) c.3920G>T (p.Gly1307Val) n.8619G>T | |
18 | g.23928681C>A | CA503340783 | LAMA3 | c.3525C>A (p.Gly1175=) c.8352C>A (p.Gly2784=) c.4947C>A (p.Gly1649=) c.8184C>A (p.Gly2728=) c.3130C>A c.3357C>A (p.Gly1119=) c.57C>A (p.Gly19=) n.2930C>A c.8379C>A (p.Gly2793=) c.8370C>A (p.Gly2790=) c.8361C>A (p.Gly2787=) c.8247C>A (p.Gly2749=) c.8082C>A (p.Gly2694=) c.6231C>A (p.Gly2077=) c.3921C>A (p.Gly1307=) n.8620C>A | |
18 | g.23928681C>G | CA503340784 | LAMA3 | c.3525C>G (p.Gly1175=) c.8352C>G (p.Gly2784=) c.4947C>G (p.Gly1649=) c.8184C>G (p.Gly2728=) c.3130C>G c.3357C>G (p.Gly1119=) c.57C>G (p.Gly19=) n.2930C>G c.8379C>G (p.Gly2793=) c.8370C>G (p.Gly2790=) c.8361C>G (p.Gly2787=) c.8247C>G (p.Gly2749=) c.8082C>G (p.Gly2694=) c.6231C>G (p.Gly2077=) c.3921C>G (p.Gly1307=) n.8620C>G | |
18 | g.23928681C>T | CA503340785 | LAMA3 | c.3525C>T (p.Gly1175=) c.8352C>T (p.Gly2784=) c.4947C>T (p.Gly1649=) c.8184C>T (p.Gly2728=) c.3130C>T c.3357C>T (p.Gly1119=) c.57C>T (p.Gly19=) n.2930C>T c.8379C>T (p.Gly2793=) c.8370C>T (p.Gly2790=) c.8361C>T (p.Gly2787=) c.8247C>T (p.Gly2749=) c.8082C>T (p.Gly2694=) c.6231C>T (p.Gly2077=) c.3921C>T (p.Gly1307=) n.8620C>T | ClinVar |
18 | g.23928682T>A | CA402063957 | LAMA3 | c.3526T>A (p.Leu1176Ile) c.8353T>A (p.Leu2785Ile) c.4948T>A (p.Leu1650Ile) c.8185T>A (p.Leu2729Ile) c.3131T>A c.3358T>A (p.Leu1120Ile) c.58T>A (p.Leu20Ile) n.2931T>A c.8380T>A (p.Leu2794Ile) c.8371T>A (p.Leu2791Ile) c.8362T>A (p.Leu2788Ile) c.8248T>A (p.Leu2750Ile) c.8083T>A (p.Leu2695Ile) c.6232T>A (p.Leu2078Ile) c.3922T>A (p.Leu1308Ile) n.8621T>A | |
18 | g.23928682T>C | CA503340786 | LAMA3 | c.3526T>C (p.Leu1176=) c.8353T>C (p.Leu2785=) c.4948T>C (p.Leu1650=) c.8185T>C (p.Leu2729=) c.3131T>C c.3358T>C (p.Leu1120=) c.58T>C (p.Leu20=) n.2931T>C c.8380T>C (p.Leu2794=) c.8371T>C (p.Leu2791=) c.8362T>C (p.Leu2788=) c.8248T>C (p.Leu2750=) c.8083T>C (p.Leu2695=) c.6232T>C (p.Leu2078=) c.3922T>C (p.Leu1308=) n.8621T>C | |
18 | g.23928682T>G | CA402063960 | LAMA3 | c.3526T>G (p.Leu1176Val) c.8353T>G (p.Leu2785Val) c.4948T>G (p.Leu1650Val) c.8185T>G (p.Leu2729Val) c.3131T>G c.3358T>G (p.Leu1120Val) c.58T>G (p.Leu20Val) n.2931T>G c.8380T>G (p.Leu2794Val) c.8371T>G (p.Leu2791Val) c.8362T>G (p.Leu2788Val) c.8248T>G (p.Leu2750Val) c.8083T>G (p.Leu2695Val) c.6232T>G (p.Leu2078Val) c.3922T>G (p.Leu1308Val) n.8621T>G | |
18 | g.23928683T>A | CA402063962 | LAMA3 | c.3527T>A (p.Leu1176Ter) c.8354T>A (p.Leu2785Ter) c.4949T>A (p.Leu1650Ter) c.8186T>A (p.Leu2729Ter) c.3132T>A c.3359T>A (p.Leu1120Ter) c.59T>A (p.Leu20Ter) n.2932T>A c.8381T>A (p.Leu2794Ter) c.8372T>A (p.Leu2791Ter) c.8363T>A (p.Leu2788Ter) c.8249T>A (p.Leu2750Ter) c.8084T>A (p.Leu2695Ter) c.6233T>A (p.Leu2078Ter) c.3923T>A (p.Leu1308Ter) n.8622T>A | |
18 | g.23928683T>C | CA402063964 | LAMA3 | c.3527T>C (p.Leu1176Ser) c.8354T>C (p.Leu2785Ser) c.4949T>C (p.Leu1650Ser) c.8186T>C (p.Leu2729Ser) c.3132T>C c.3359T>C (p.Leu1120Ser) c.59T>C (p.Leu20Ser) n.2932T>C c.8381T>C (p.Leu2794Ser) c.8372T>C (p.Leu2791Ser) c.8363T>C (p.Leu2788Ser) c.8249T>C (p.Leu2750Ser) c.8084T>C (p.Leu2695Ser) c.6233T>C (p.Leu2078Ser) c.3923T>C (p.Leu1308Ser) n.8622T>C | |
18 | g.23928683T>G | CA402063966 | LAMA3 | c.3527T>G (p.Leu1176Ter) c.8354T>G (p.Leu2785Ter) c.4949T>G (p.Leu1650Ter) c.8186T>G (p.Leu2729Ter) c.3132T>G c.3359T>G (p.Leu1120Ter) c.59T>G (p.Leu20Ter) n.2932T>G c.8381T>G (p.Leu2794Ter) c.8372T>G (p.Leu2791Ter) c.8363T>G (p.Leu2788Ter) c.8249T>G (p.Leu2750Ter) c.8084T>G (p.Leu2695Ter) c.6233T>G (p.Leu2078Ter) c.3923T>G (p.Leu1308Ter) n.8622T>G | |
18 | g.23928684A>C | CA402063967 | LAMA3 | c.3528A>C (p.Leu1176Phe) c.8355A>C (p.Leu2785Phe) c.4950A>C (p.Leu1650Phe) c.8187A>C (p.Leu2729Phe) c.3133A>C c.3360A>C (p.Leu1120Phe) c.60A>C (p.Leu20Phe) n.2933A>C c.8382A>C (p.Leu2794Phe) c.8373A>C (p.Leu2791Phe) c.8364A>C (p.Leu2788Phe) c.8250A>C (p.Leu2750Phe) c.8085A>C (p.Leu2695Phe) c.6234A>C (p.Leu2078Phe) c.3924A>C (p.Leu1308Phe) n.8623A>C | |
18 | g.23928684A>G | CA503340787 | LAMA3 | c.3528A>G (p.Leu1176=) c.8355A>G (p.Leu2785=) c.4950A>G (p.Leu1650=) c.8187A>G (p.Leu2729=) c.3133A>G c.3360A>G (p.Leu1120=) c.60A>G (p.Leu20=) n.2933A>G c.8382A>G (p.Leu2794=) c.8373A>G (p.Leu2791=) c.8364A>G (p.Leu2788=) c.8250A>G (p.Leu2750=) c.8085A>G (p.Leu2695=) c.6234A>G (p.Leu2078=) c.3924A>G (p.Leu1308=) n.8623A>G | |
18 | g.23928684A>T | CA402063969 | LAMA3 | c.3528A>T (p.Leu1176Phe) c.8355A>T (p.Leu2785Phe) c.4950A>T (p.Leu1650Phe) c.8187A>T (p.Leu2729Phe) c.3133A>T c.3360A>T (p.Leu1120Phe) c.60A>T (p.Leu20Phe) n.2933A>T c.8382A>T (p.Leu2794Phe) c.8373A>T (p.Leu2791Phe) c.8364A>T (p.Leu2788Phe) c.8250A>T (p.Leu2750Phe) c.8085A>T (p.Leu2695Phe) c.6234A>T (p.Leu2078Phe) c.3924A>T (p.Leu1308Phe) n.8623A>T | |
18 | g.23928685C>A | CA402063972 | LAMA3 | c.3529C>A (p.Pro1177Thr) c.8356C>A (p.Pro2786Thr) c.4951C>A (p.Pro1651Thr) c.8188C>A (p.Pro2730Thr) c.3134C>A c.3361C>A (p.Pro1121Thr) c.61C>A (p.Pro21Thr) n.2934C>A c.8383C>A (p.Pro2795Thr) c.8374C>A (p.Pro2792Thr) c.8365C>A (p.Pro2789Thr) c.8251C>A (p.Pro2751Thr) c.8086C>A (p.Pro2696Thr) c.6235C>A (p.Pro2079Thr) c.3925C>A (p.Pro1309Thr) n.8624C>A | |
18 | g.23928685C>G | CA402063973 | LAMA3 | c.3529C>G (p.Pro1177Ala) c.8356C>G (p.Pro2786Ala) c.4951C>G (p.Pro1651Ala) c.8188C>G (p.Pro2730Ala) c.3134C>G c.3361C>G (p.Pro1121Ala) c.61C>G (p.Pro21Ala) n.2934C>G c.8383C>G (p.Pro2795Ala) c.8374C>G (p.Pro2792Ala) c.8365C>G (p.Pro2789Ala) c.8251C>G (p.Pro2751Ala) c.8086C>G (p.Pro2696Ala) c.6235C>G (p.Pro2079Ala) c.3925C>G (p.Pro1309Ala) n.8624C>G | |
18 | g.23928685C>T | CA402063976 | LAMA3 | c.3529C>T (p.Pro1177Ser) c.8356C>T (p.Pro2786Ser) c.4951C>T (p.Pro1651Ser) c.8188C>T (p.Pro2730Ser) c.3134C>T c.3361C>T (p.Pro1121Ser) c.61C>T (p.Pro21Ser) n.2934C>T c.8383C>T (p.Pro2795Ser) c.8374C>T (p.Pro2792Ser) c.8365C>T (p.Pro2789Ser) c.8251C>T (p.Pro2751Ser) c.8086C>T (p.Pro2696Ser) c.6235C>T (p.Pro2079Ser) c.3925C>T (p.Pro1309Ser) n.8624C>T | |
18 | g.23928686C>A | CA402063978 | LAMA3 | c.3530C>A (p.Pro1177Gln) c.8357C>A (p.Pro2786Gln) c.4952C>A (p.Pro1651Gln) c.8189C>A (p.Pro2730Gln) c.3135C>A c.3362C>A (p.Pro1121Gln) c.62C>A (p.Pro21Gln) n.2935C>A c.8384C>A (p.Pro2795Gln) c.8375C>A (p.Pro2792Gln) c.8366C>A (p.Pro2789Gln) c.8252C>A (p.Pro2751Gln) c.8087C>A (p.Pro2696Gln) c.6236C>A (p.Pro2079Gln) c.3926C>A (p.Pro1309Gln) n.8625C>A | |
18 | g.23928686C>G | CA402063980 | LAMA3 | c.3530C>G (p.Pro1177Arg) c.8357C>G (p.Pro2786Arg) c.4952C>G (p.Pro1651Arg) c.8189C>G (p.Pro2730Arg) c.3135C>G c.3362C>G (p.Pro1121Arg) c.62C>G (p.Pro21Arg) n.2935C>G c.8384C>G (p.Pro2795Arg) c.8375C>G (p.Pro2792Arg) c.8366C>G (p.Pro2789Arg) c.8252C>G (p.Pro2751Arg) c.8087C>G (p.Pro2696Arg) c.6236C>G (p.Pro2079Arg) c.3926C>G (p.Pro1309Arg) n.8625C>G | |
18 | g.23928686C>T | CA402063982 | LAMA3 | c.3530C>T (p.Pro1177Leu) c.8357C>T (p.Pro2786Leu) c.4952C>T (p.Pro1651Leu) c.8189C>T (p.Pro2730Leu) c.3135C>T c.3362C>T (p.Pro1121Leu) c.62C>T (p.Pro21Leu) n.2935C>T c.8384C>T (p.Pro2795Leu) c.8375C>T (p.Pro2792Leu) c.8366C>T (p.Pro2789Leu) c.8252C>T (p.Pro2751Leu) c.8087C>T (p.Pro2696Leu) c.6236C>T (p.Pro2079Leu) c.3926C>T (p.Pro1309Leu) n.8625C>T | |
18 | g.23928687A= | CA2290334836 | LAMA3 | c.3531A= (p.Pro1177=) c.8358A= (p.Pro2786=) c.4953A= (p.Pro1651=) c.8190A= (p.Pro2730=) c.3136A= c.3363A= (p.Pro1121=) c.63A= (p.Pro21=) n.2936A= c.8385A= (p.Pro2795=) c.8376A= (p.Pro2792=) c.8367A= (p.Pro2789=) c.8253A= (p.Pro2751=) c.8088A= (p.Pro2696=) c.6237A= (p.Pro2079=) c.3927A= (p.Pro1309=) n.8626A= | |
18 | g.23928687A>C | CA503340788 | LAMA3 | c.3531A>C (p.Pro1177=) c.8358A>C (p.Pro2786=) c.4953A>C (p.Pro1651=) c.8190A>C (p.Pro2730=) c.3136A>C c.3363A>C (p.Pro1121=) c.63A>C (p.Pro21=) n.2936A>C c.8385A>C (p.Pro2795=) c.8376A>C (p.Pro2792=) c.8367A>C (p.Pro2789=) c.8253A>C (p.Pro2751=) c.8088A>C (p.Pro2696=) c.6237A>C (p.Pro2079=) c.3927A>C (p.Pro1309=) n.8626A>C | dbSNP gnomAD v4 |
18 | g.23928687A>G | CA503340789 | LAMA3 | c.3531A>G (p.Pro1177=) c.8358A>G (p.Pro2786=) c.4953A>G (p.Pro1651=) c.8190A>G (p.Pro2730=) c.3136A>G c.3363A>G (p.Pro1121=) c.63A>G (p.Pro21=) n.2936A>G c.8385A>G (p.Pro2795=) c.8376A>G (p.Pro2792=) c.8367A>G (p.Pro2789=) c.8253A>G (p.Pro2751=) c.8088A>G (p.Pro2696=) c.6237A>G (p.Pro2079=) c.3927A>G (p.Pro1309=) n.8626A>G | |
18 | g.23928687A>T | CA503340790 | LAMA3 | c.3531A>T (p.Pro1177=) c.8358A>T (p.Pro2786=) c.4953A>T (p.Pro1651=) c.8190A>T (p.Pro2730=) c.3136A>T c.3363A>T (p.Pro1121=) c.63A>T (p.Pro21=) n.2936A>T c.8385A>T (p.Pro2795=) c.8376A>T (p.Pro2792=) c.8367A>T (p.Pro2789=) c.8253A>T (p.Pro2751=) c.8088A>T (p.Pro2696=) c.6237A>T (p.Pro2079=) c.3927A>T (p.Pro1309=) n.8626A>T | |
18 | g.23928688C>A | CA402063983 | LAMA3 | c.3532C>A (p.Pro1178Thr) c.8359C>A (p.Pro2787Thr) c.4954C>A (p.Pro1652Thr) c.8191C>A (p.Pro2731Thr) c.3137C>A c.3364C>A (p.Pro1122Thr) c.64C>A (p.Pro22Thr) n.2937C>A c.8386C>A (p.Pro2796Thr) c.8377C>A (p.Pro2793Thr) c.8368C>A (p.Pro2790Thr) c.8254C>A (p.Pro2752Thr) c.8089C>A (p.Pro2697Thr) c.6238C>A (p.Pro2080Thr) c.3928C>A (p.Pro1310Thr) n.8627C>A | |
18 | g.23928688C>G | CA402063987 | LAMA3 | c.3532C>G (p.Pro1178Ala) c.8359C>G (p.Pro2787Ala) c.4954C>G (p.Pro1652Ala) c.8191C>G (p.Pro2731Ala) c.3137C>G c.3364C>G (p.Pro1122Ala) c.64C>G (p.Pro22Ala) n.2937C>G c.8386C>G (p.Pro2796Ala) c.8377C>G (p.Pro2793Ala) c.8368C>G (p.Pro2790Ala) c.8254C>G (p.Pro2752Ala) c.8089C>G (p.Pro2697Ala) c.6238C>G (p.Pro2080Ala) c.3928C>G (p.Pro1310Ala) n.8627C>G | gnomAD v4 |
18 | g.23928688C>T | CA402063985 | LAMA3 | c.3532C>T (p.Pro1178Ser) c.8359C>T (p.Pro2787Ser) c.4954C>T (p.Pro1652Ser) c.8191C>T (p.Pro2731Ser) c.3137C>T c.3364C>T (p.Pro1122Ser) c.64C>T (p.Pro22Ser) n.2937C>T c.8386C>T (p.Pro2796Ser) c.8377C>T (p.Pro2793Ser) c.8368C>T (p.Pro2790Ser) c.8254C>T (p.Pro2752Ser) c.8089C>T (p.Pro2697Ser) c.6238C>T (p.Pro2080Ser) c.3928C>T (p.Pro1310Ser) n.8627C>T | gnomAD v4 |
18 | g.23928689C>A | CA402063989 | LAMA3 | c.3533C>A (p.Pro1178His) c.8360C>A (p.Pro2787His) c.4955C>A (p.Pro1652His) c.8192C>A (p.Pro2731His) c.3138C>A c.3365C>A (p.Pro1122His) c.65C>A (p.Pro22His) n.2938C>A c.8387C>A (p.Pro2796His) c.8378C>A (p.Pro2793His) c.8369C>A (p.Pro2790His) c.8255C>A (p.Pro2752His) c.8090C>A (p.Pro2697His) c.6239C>A (p.Pro2080His) c.3929C>A (p.Pro1310His) n.8628C>A | |
18 | g.23928689C>G | CA402063991 | LAMA3 | c.3533C>G (p.Pro1178Arg) c.8360C>G (p.Pro2787Arg) c.4955C>G (p.Pro1652Arg) c.8192C>G (p.Pro2731Arg) c.3138C>G c.3365C>G (p.Pro1122Arg) c.65C>G (p.Pro22Arg) n.2938C>G c.8387C>G (p.Pro2796Arg) c.8378C>G (p.Pro2793Arg) c.8369C>G (p.Pro2790Arg) c.8255C>G (p.Pro2752Arg) c.8090C>G (p.Pro2697Arg) c.6239C>G (p.Pro2080Arg) c.3929C>G (p.Pro1310Arg) n.8628C>G | |
18 | g.23928689C>T | CA402063993 | LAMA3 | c.3533C>T (p.Pro1178Leu) c.8360C>T (p.Pro2787Leu) c.4955C>T (p.Pro1652Leu) c.8192C>T (p.Pro2731Leu) c.3138C>T c.3365C>T (p.Pro1122Leu) c.65C>T (p.Pro22Leu) n.2938C>T c.8387C>T (p.Pro2796Leu) c.8378C>T (p.Pro2793Leu) c.8369C>T (p.Pro2790Leu) c.8255C>T (p.Pro2752Leu) c.8090C>T (p.Pro2697Leu) c.6239C>T (p.Pro2080Leu) c.3929C>T (p.Pro1310Leu) n.8628C>T | |
18 | g.23928690T>A | CA503340793 | LAMA3 | c.3534T>A (p.Pro1178=) c.8361T>A (p.Pro2787=) c.4956T>A (p.Pro1652=) c.8193T>A (p.Pro2731=) c.3139T>A c.3366T>A (p.Pro1122=) c.66T>A (p.Pro22=) n.2939T>A c.8388T>A (p.Pro2796=) c.8379T>A (p.Pro2793=) c.8370T>A (p.Pro2790=) c.8256T>A (p.Pro2752=) c.8091T>A (p.Pro2697=) c.6240T>A (p.Pro2080=) c.3930T>A (p.Pro1310=) n.8629T>A | |
18 | g.23928690T>C | CA503340792 | LAMA3 | c.3534T>C (p.Pro1178=) c.8361T>C (p.Pro2787=) c.4956T>C (p.Pro1652=) c.8193T>C (p.Pro2731=) c.3139T>C c.3366T>C (p.Pro1122=) c.66T>C (p.Pro22=) n.2939T>C c.8388T>C (p.Pro2796=) c.8379T>C (p.Pro2793=) c.8370T>C (p.Pro2790=) c.8256T>C (p.Pro2752=) c.8091T>C (p.Pro2697=) c.6240T>C (p.Pro2080=) c.3930T>C (p.Pro1310=) n.8629T>C | dbSNP gnomAD v4 |
18 | g.23928690T>G | CA503340791 | LAMA3 | c.3534T>G (p.Pro1178=) c.8361T>G (p.Pro2787=) c.4956T>G (p.Pro1652=) c.8193T>G (p.Pro2731=) c.3139T>G c.3366T>G (p.Pro1122=) c.66T>G (p.Pro22=) n.2939T>G c.8388T>G (p.Pro2796=) c.8379T>G (p.Pro2793=) c.8370T>G (p.Pro2790=) c.8256T>G (p.Pro2752=) c.8091T>G (p.Pro2697=) c.6240T>G (p.Pro2080=) c.3930T>G (p.Pro1310=) n.8629T>G | |
18 | g.23928690T= | CA2290334837 | LAMA3 | c.3534T= (p.Pro1178=) c.8361T= (p.Pro2787=) c.4956T= (p.Pro1652=) c.8193T= (p.Pro2731=) c.3139T= c.3366T= (p.Pro1122=) c.66T= (p.Pro22=) n.2939T= c.8388T= (p.Pro2796=) c.8379T= (p.Pro2793=) c.8370T= (p.Pro2790=) c.8256T= (p.Pro2752=) c.8091T= (p.Pro2697=) c.6240T= (p.Pro2080=) c.3930T= (p.Pro1310=) n.8629T= | |
18 | g.23928691A>C | CA402063995 | LAMA3 | c.3535A>C (p.Thr1179Pro) c.8362A>C (p.Thr2788Pro) c.4957A>C (p.Thr1653Pro) c.8194A>C (p.Thr2732Pro) c.3140A>C c.3367A>C (p.Thr1123Pro) c.67A>C (p.Thr23Pro) n.2940A>C c.8389A>C (p.Thr2797Pro) c.8380A>C (p.Thr2794Pro) c.8371A>C (p.Thr2791Pro) c.8257A>C (p.Thr2753Pro) c.8092A>C (p.Thr2698Pro) c.6241A>C (p.Thr2081Pro) c.3931A>C (p.Thr1311Pro) n.8630A>C | |
18 | g.23928691A>G | CA402063996 | LAMA3 | c.3535A>G (p.Thr1179Ala) c.8362A>G (p.Thr2788Ala) c.4957A>G (p.Thr1653Ala) c.8194A>G (p.Thr2732Ala) c.3140A>G c.3367A>G (p.Thr1123Ala) c.67A>G (p.Thr23Ala) n.2940A>G c.8389A>G (p.Thr2797Ala) c.8380A>G (p.Thr2794Ala) c.8371A>G (p.Thr2791Ala) c.8257A>G (p.Thr2753Ala) c.8092A>G (p.Thr2698Ala) c.6241A>G (p.Thr2081Ala) c.3931A>G (p.Thr1311Ala) n.8630A>G | |
18 | g.23928691A>T | CA402063998 | LAMA3 | c.3535A>T (p.Thr1179Ser) c.8362A>T (p.Thr2788Ser) c.4957A>T (p.Thr1653Ser) c.8194A>T (p.Thr2732Ser) c.3140A>T c.3367A>T (p.Thr1123Ser) c.67A>T (p.Thr23Ser) n.2940A>T c.8389A>T (p.Thr2797Ser) c.8380A>T (p.Thr2794Ser) c.8371A>T (p.Thr2791Ser) c.8257A>T (p.Thr2753Ser) c.8092A>T (p.Thr2698Ser) c.6241A>T (p.Thr2081Ser) c.3931A>T (p.Thr1311Ser) n.8630A>T | |
18 | g.23928692C>A | CA402064001 | LAMA3 | c.3536C>A (p.Thr1179Asn) c.8363C>A (p.Thr2788Asn) c.4958C>A (p.Thr1653Asn) c.8195C>A (p.Thr2732Asn) c.3141C>A c.3368C>A (p.Thr1123Asn) c.68C>A (p.Thr23Asn) n.2941C>A c.8390C>A (p.Thr2797Asn) c.8381C>A (p.Thr2794Asn) c.8372C>A (p.Thr2791Asn) c.8258C>A (p.Thr2753Asn) c.8093C>A (p.Thr2698Asn) c.6242C>A (p.Thr2081Asn) c.3932C>A (p.Thr1311Asn) n.8631C>A | |
18 | g.23928692C>G | CA402064002 | LAMA3 | c.3536C>G (p.Thr1179Ser) c.8363C>G (p.Thr2788Ser) c.4958C>G (p.Thr1653Ser) c.8195C>G (p.Thr2732Ser) c.3141C>G c.3368C>G (p.Thr1123Ser) c.68C>G (p.Thr23Ser) n.2941C>G c.8390C>G (p.Thr2797Ser) c.8381C>G (p.Thr2794Ser) c.8372C>G (p.Thr2791Ser) c.8258C>G (p.Thr2753Ser) c.8093C>G (p.Thr2698Ser) c.6242C>G (p.Thr2081Ser) c.3932C>G (p.Thr1311Ser) n.8631C>G | |
18 | g.23928692C>T | CA402064005 | LAMA3 | c.3536C>T (p.Thr1179Ile) c.8363C>T (p.Thr2788Ile) c.4958C>T (p.Thr1653Ile) c.8195C>T (p.Thr2732Ile) c.3141C>T c.3368C>T (p.Thr1123Ile) c.68C>T (p.Thr23Ile) n.2941C>T c.8390C>T (p.Thr2797Ile) c.8381C>T (p.Thr2794Ile) c.8372C>T (p.Thr2791Ile) c.8258C>T (p.Thr2753Ile) c.8093C>T (p.Thr2698Ile) c.6242C>T (p.Thr2081Ile) c.3932C>T (p.Thr1311Ile) n.8631C>T | gnomAD v4 |