Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23928679G>ACA402063946LAMA3c.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
18g.23928679G>CCA402063948LAMA3c.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
18g.23928679G>TCA402063950LAMA3c.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
18g.23928680G>ACA402063956LAMA3c.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
18g.23928680G>CCA402063952LAMA3c.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
18g.23928680G>TCA402063954LAMA3c.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
18g.23928681C>ACA503340783LAMA3c.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
18g.23928681C>GCA503340784LAMA3c.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
18g.23928681C>TCA503340785LAMA3c.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
18g.23928682T>ACA402063957LAMA3c.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
18g.23928682T>CCA503340786LAMA3c.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
18g.23928682T>GCA402063960LAMA3c.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
18g.23928683T>ACA402063962LAMA3c.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
18g.23928683T>CCA402063964LAMA3c.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
18g.23928683T>GCA402063966LAMA3c.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
18g.23928684A>CCA402063967LAMA3c.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
18g.23928684A>GCA503340787LAMA3c.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
18g.23928684A>TCA402063969LAMA3c.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
18g.23928685C>ACA402063972LAMA3c.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
18g.23928685C>GCA402063973LAMA3c.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
18g.23928685C>TCA402063976LAMA3c.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
18g.23928686C>ACA402063978LAMA3c.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
18g.23928686C>GCA402063980LAMA3c.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
18g.23928686C>TCA402063982LAMA3c.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
18g.23928687A=CA2290334836LAMA3c.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=
18g.23928687A>CCA503340788LAMA3c.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
18g.23928687A>GCA503340789LAMA3c.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
18g.23928687A>TCA503340790LAMA3c.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
18g.23928688C>ACA402063983LAMA3c.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
18g.23928688C>GCA402063987LAMA3c.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
18g.23928688C>TCA402063985LAMA3c.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
18g.23928689C>ACA402063989LAMA3c.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
18g.23928689C>GCA402063991LAMA3c.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
18g.23928689C>TCA402063993LAMA3c.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
18g.23928690T>ACA503340793LAMA3c.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
18g.23928690T>CCA503340792LAMA3c.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
18g.23928690T>GCA503340791LAMA3c.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
18g.23928690T=CA2290334837LAMA3c.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=
18g.23928691A>CCA402063995LAMA3c.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
18g.23928691A>GCA402063996LAMA3c.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
18g.23928691A>TCA402063998LAMA3c.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
18g.23928692C>ACA402064001LAMA3c.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
18g.23928692C>GCA402064002LAMA3c.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
18g.23928692C>TCA402064005LAMA3c.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
18g.23928693T>ACA503340794LAMA3c.3537T>A (p.Thr1179=)
c.8364T>A (p.Thr2788=)
c.4959T>A (p.Thr1653=)
c.8196T>A (p.Thr2732=)
c.3142T>A
c.3369T>A (p.Thr1123=)
c.69T>A (p.Thr23=)
n.2942T>A
c.8391T>A (p.Thr2797=)
c.8382T>A (p.Thr2794=)
c.8373T>A (p.Thr2791=)
c.8259T>A (p.Thr2753=)
c.8094T>A (p.Thr2698=)
c.6243T>A (p.Thr2081=)
c.3933T>A (p.Thr1311=)
n.8632T>A
18g.23928693T>CCA503340795LAMA3c.3537T>C (p.Thr1179=)
c.8364T>C (p.Thr2788=)
c.4959T>C (p.Thr1653=)
c.8196T>C (p.Thr2732=)
c.3142T>C
c.3369T>C (p.Thr1123=)
c.69T>C (p.Thr23=)
n.2942T>C
c.8391T>C (p.Thr2797=)
c.8382T>C (p.Thr2794=)
c.8373T>C (p.Thr2791=)
c.8259T>C (p.Thr2753=)
c.8094T>C (p.Thr2698=)
c.6243T>C (p.Thr2081=)
c.3933T>C (p.Thr1311=)
n.8632T>C
 dbSNP
18g.23928693T>GCA503340796LAMA3c.3537T>G (p.Thr1179=)
c.8364T>G (p.Thr2788=)
c.4959T>G (p.Thr1653=)
c.8196T>G (p.Thr2732=)
c.3142T>G
c.3369T>G (p.Thr1123=)
c.69T>G (p.Thr23=)
n.2942T>G
c.8391T>G (p.Thr2797=)
c.8382T>G (p.Thr2794=)
c.8373T>G (p.Thr2791=)
c.8259T>G (p.Thr2753=)
c.8094T>G (p.Thr2698=)
c.6243T>G (p.Thr2081=)
c.3933T>G (p.Thr1311=)
n.8632T>G
 ClinVar
18g.23928693T=CA2290334838LAMA3c.3537T= (p.Thr1179=)
c.8364T= (p.Thr2788=)
c.4959T= (p.Thr1653=)
c.8196T= (p.Thr2732=)
c.3142T=
c.3369T= (p.Thr1123=)
c.69T= (p.Thr23=)
n.2942T=
c.8391T= (p.Thr2797=)
c.8382T= (p.Thr2794=)
c.8373T= (p.Thr2791=)
c.8259T= (p.Thr2753=)
c.8094T= (p.Thr2698=)
c.6243T= (p.Thr2081=)
c.3933T= (p.Thr1311=)
n.8632T=
18g.23928694G>ACA402064006LAMA3c.3538G>A (p.Asp1180Asn)
c.8365G>A (p.Asp2789Asn)
c.4960G>A (p.Asp1654Asn)
c.8197G>A (p.Asp2733Asn)
c.3143G>A
c.3370G>A (p.Asp1124Asn)
c.70G>A (p.Asp24Asn)
n.2943G>A
c.8392G>A (p.Asp2798Asn)
c.8383G>A (p.Asp2795Asn)
c.8374G>A (p.Asp2792Asn)
c.8260G>A (p.Asp2754Asn)
c.8095G>A (p.Asp2699Asn)
c.6244G>A (p.Asp2082Asn)
c.3934G>A (p.Asp1312Asn)
n.8633G>A
18g.23928694G>CCA402064007LAMA3c.3538G>C (p.Asp1180His)
c.8365G>C (p.Asp2789His)
c.4960G>C (p.Asp1654His)
c.8197G>C (p.Asp2733His)
c.3143G>C
c.3370G>C (p.Asp1124His)
c.70G>C (p.Asp24His)
n.2943G>C
c.8392G>C (p.Asp2798His)
c.8383G>C (p.Asp2795His)
c.8374G>C (p.Asp2792His)
c.8260G>C (p.Asp2754His)
c.8095G>C (p.Asp2699His)
c.6244G>C (p.Asp2082His)
c.3934G>C (p.Asp1312His)
n.8633G>C

Number of alleles fetched