| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23950035_23950062delinsCTGTATTGTTGGGGCCAGAATTTAAGCT | CA2290344024 | LAMA3 | c.4691_4718delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser1564=) c.9518_9545delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3173=) c.6113_6140delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser2038=) c.9350_9377delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3117=) c.4523_4550delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser1508=) c.39_66delinsCTGTATTGTTGGGGCCAGAATTTAAGCT n.4096_4123delinsCTGTATTGTTGGGGCCAGAATTTAAGCT c.9545_9572delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3182=) c.9536_9563delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3179=) c.9527_9554delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3176=) c.9413_9440delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3138=) c.9248_9275delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3083=) c.7397_7424delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser2466=) c.5087_5114delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser1696=) n.9786_9813delinsCTGTATTGTTGGGGCCAGAATTTAAGCT | |
| 18 | g.23950039_23950065del | CA628979193 | LAMA3 | c.4695_4721del (p.Leu1566_Val1574del) c.9522_9548del (p.Leu3175_Val3183del) c.6117_6143del (p.Leu2040_Val2048del) c.9354_9380del (p.Leu3119_Val3127del) c.4527_4553del (p.Leu1510_Val1518del) c.43_69del n.4100_4126del c.9549_9575del (p.Leu3184_Val3192del) c.9540_9566del (p.Leu3181_Val3189del) c.9531_9557del (p.Leu3178_Val3186del) c.9417_9443del (p.Leu3140_Val3148del) c.9252_9278del (p.Leu3085_Val3093del) c.7401_7427del (p.Leu2468_Val2476del) c.5091_5117del (p.Leu1698_Val1706del) n.9790_9816del | dbSNP gnomAD v2 |
| 18 | g.23950059A= | CA2290344071 | LAMA3 | c.4715A= (p.Lys1572=) c.9542A= (p.Lys3181=) c.6137A= (p.Lys2046=) c.9374A= (p.Lys3125=) c.4547A= (p.Lys1516=) c.63A= n.4120A= c.9569A= (p.Lys3190=) c.9560A= (p.Lys3187=) c.9551A= (p.Lys3184=) c.9437A= (p.Lys3146=) c.9272A= (p.Lys3091=) c.7421A= (p.Lys2474=) c.5111A= (p.Lys1704=) n.9810A= | |
| 18 | g.23950059A>C | CA402051934 | LAMA3 | c.4715A>C (p.Lys1572Thr) c.9542A>C (p.Lys3181Thr) c.6137A>C (p.Lys2046Thr) c.9374A>C (p.Lys3125Thr) c.4547A>C (p.Lys1516Thr) c.63A>C n.4120A>C c.9569A>C (p.Lys3190Thr) c.9560A>C (p.Lys3187Thr) c.9551A>C (p.Lys3184Thr) c.9437A>C (p.Lys3146Thr) c.9272A>C (p.Lys3091Thr) c.7421A>C (p.Lys2474Thr) c.5111A>C (p.Lys1704Thr) n.9810A>C | |
| 18 | g.23950059A>G | CA297100353 | LAMA3 | c.4715A>G (p.Lys1572Arg) c.9542A>G (p.Lys3181Arg) c.6137A>G (p.Lys2046Arg) c.9374A>G (p.Lys3125Arg) c.4547A>G (p.Lys1516Arg) c.63A>G n.4120A>G c.9569A>G (p.Lys3190Arg) c.9560A>G (p.Lys3187Arg) c.9551A>G (p.Lys3184Arg) c.9437A>G (p.Lys3146Arg) c.9272A>G (p.Lys3091Arg) c.7421A>G (p.Lys2474Arg) c.5111A>G (p.Lys1704Arg) n.9810A>G | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23950059A>T | CA402051935 | LAMA3 | c.4715A>T (p.Lys1572Met) c.9542A>T (p.Lys3181Met) c.6137A>T (p.Lys2046Met) c.9374A>T (p.Lys3125Met) c.4547A>T (p.Lys1516Met) c.63A>T n.4120A>T c.9569A>T (p.Lys3190Met) c.9560A>T (p.Lys3187Met) c.9551A>T (p.Lys3184Met) c.9437A>T (p.Lys3146Met) c.9272A>T (p.Lys3091Met) c.7421A>T (p.Lys2474Met) c.5111A>T (p.Lys1704Met) n.9810A>T | |
| 18 | g.23950060G>A | CA8917226 | LAMA3 | c.4716G>A (p.Lys1572=) c.9543G>A (p.Lys3181=) c.6138G>A (p.Lys2046=) c.9375G>A (p.Lys3125=) c.4548G>A (p.Lys1516=) c.64G>A n.4121G>A c.9570G>A (p.Lys3190=) c.9561G>A (p.Lys3187=) c.9552G>A (p.Lys3184=) c.9438G>A (p.Lys3146=) c.9273G>A (p.Lys3091=) c.7422G>A (p.Lys2474=) c.5112G>A (p.Lys1704=) n.9811G>A | dbSNP ExAC gnomAD v2 |
| 18 | g.23950060G>C | CA402051936 | LAMA3 | c.4716G>C (p.Lys1572Asn) c.9543G>C (p.Lys3181Asn) c.6138G>C (p.Lys2046Asn) c.9375G>C (p.Lys3125Asn) c.4548G>C (p.Lys1516Asn) c.64G>C n.4121G>C c.9570G>C (p.Lys3190Asn) c.9561G>C (p.Lys3187Asn) c.9552G>C (p.Lys3184Asn) c.9438G>C (p.Lys3146Asn) c.9273G>C (p.Lys3091Asn) c.7422G>C (p.Lys2474Asn) c.5112G>C (p.Lys1704Asn) n.9811G>C | |
| 18 | g.23950060G= | CA2290344074 | LAMA3 | c.4716G= (p.Lys1572=) c.9543G= (p.Lys3181=) c.6138G= (p.Lys2046=) c.9375G= (p.Lys3125=) c.4548G= (p.Lys1516=) c.64G= n.4121G= c.9570G= (p.Lys3190=) c.9561G= (p.Lys3187=) c.9552G= (p.Lys3184=) c.9438G= (p.Lys3146=) c.9273G= (p.Lys3091=) c.7422G= (p.Lys2474=) c.5112G= (p.Lys1704=) n.9811G= | |
| 18 | g.23950060G>T | CA402051937 | LAMA3 | c.4716G>T (p.Lys1572Asn) c.9543G>T (p.Lys3181Asn) c.6138G>T (p.Lys2046Asn) c.9375G>T (p.Lys3125Asn) c.4548G>T (p.Lys1516Asn) c.64G>T n.4121G>T c.9570G>T (p.Lys3190Asn) c.9561G>T (p.Lys3187Asn) c.9552G>T (p.Lys3184Asn) c.9438G>T (p.Lys3146Asn) c.9273G>T (p.Lys3091Asn) c.7422G>T (p.Lys2474Asn) c.5112G>T (p.Lys1704Asn) n.9811G>T | |
| 18 | g.23950061C>A | CA402051938 | LAMA3 | c.4717C>A (p.Leu1573Ile) c.9544C>A (p.Leu3182Ile) c.6139C>A (p.Leu2047Ile) c.9376C>A (p.Leu3126Ile) c.4549C>A (p.Leu1517Ile) c.65C>A n.4122C>A c.9571C>A (p.Leu3191Ile) c.9562C>A (p.Leu3188Ile) c.9553C>A (p.Leu3185Ile) c.9439C>A (p.Leu3147Ile) c.9274C>A (p.Leu3092Ile) c.7423C>A (p.Leu2475Ile) c.5113C>A (p.Leu1705Ile) n.9812C>A | |
| 18 | g.23950061C>G | CA402051939 | LAMA3 | c.4717C>G (p.Leu1573Val) c.9544C>G (p.Leu3182Val) c.6139C>G (p.Leu2047Val) c.9376C>G (p.Leu3126Val) c.4549C>G (p.Leu1517Val) c.65C>G n.4122C>G c.9571C>G (p.Leu3191Val) c.9562C>G (p.Leu3188Val) c.9553C>G (p.Leu3185Val) c.9439C>G (p.Leu3147Val) c.9274C>G (p.Leu3092Val) c.7423C>G (p.Leu2475Val) c.5113C>G (p.Leu1705Val) n.9812C>G | |
| 18 | g.23950061C>T | CA402051940 | LAMA3 | c.4717C>T (p.Leu1573Phe) c.9544C>T (p.Leu3182Phe) c.6139C>T (p.Leu2047Phe) c.9376C>T (p.Leu3126Phe) c.4549C>T (p.Leu1517Phe) c.65C>T n.4122C>T c.9571C>T (p.Leu3191Phe) c.9562C>T (p.Leu3188Phe) c.9553C>T (p.Leu3185Phe) c.9439C>T (p.Leu3147Phe) c.9274C>T (p.Leu3092Phe) c.7423C>T (p.Leu2475Phe) c.5113C>T (p.Leu1705Phe) n.9812C>T | gnomAD v4 |
| 18 | g.23950062T>A | CA402051942 | LAMA3 | c.4718T>A (p.Leu1573His) c.9545T>A (p.Leu3182His) c.6140T>A (p.Leu2047His) c.9377T>A (p.Leu3126His) c.4550T>A (p.Leu1517His) c.66T>A n.4123T>A c.9572T>A (p.Leu3191His) c.9563T>A (p.Leu3188His) c.9554T>A (p.Leu3185His) c.9440T>A (p.Leu3147His) c.9275T>A (p.Leu3092His) c.7424T>A (p.Leu2475His) c.5114T>A (p.Leu1705His) n.9813T>A | |
| 18 | g.23950062T>C | CA402051943 | LAMA3 | c.4718T>C (p.Leu1573Pro) c.9545T>C (p.Leu3182Pro) c.6140T>C (p.Leu2047Pro) c.9377T>C (p.Leu3126Pro) c.4550T>C (p.Leu1517Pro) c.66T>C n.4123T>C c.9572T>C (p.Leu3191Pro) c.9563T>C (p.Leu3188Pro) c.9554T>C (p.Leu3185Pro) c.9440T>C (p.Leu3147Pro) c.9275T>C (p.Leu3092Pro) c.7424T>C (p.Leu2475Pro) c.5114T>C (p.Leu1705Pro) n.9813T>C | |
| 18 | g.23950062T>G | CA402051941 | LAMA3 | c.4718T>G (p.Leu1573Arg) c.9545T>G (p.Leu3182Arg) c.6140T>G (p.Leu2047Arg) c.9377T>G (p.Leu3126Arg) c.4550T>G (p.Leu1517Arg) c.66T>G n.4123T>G c.9572T>G (p.Leu3191Arg) c.9563T>G (p.Leu3188Arg) c.9554T>G (p.Leu3185Arg) c.9440T>G (p.Leu3147Arg) c.9275T>G (p.Leu3092Arg) c.7424T>G (p.Leu2475Arg) c.5114T>G (p.Leu1705Arg) n.9813T>G | |
| 18 | g.23950063T>A | CA503522803 | LAMA3 | c.4719T>A (p.Leu1573=) c.9546T>A (p.Leu3182=) c.6141T>A (p.Leu2047=) c.9378T>A (p.Leu3126=) c.4551T>A (p.Leu1517=) c.67T>A n.4124T>A c.9573T>A (p.Leu3191=) c.9564T>A (p.Leu3188=) c.9555T>A (p.Leu3185=) c.9441T>A (p.Leu3147=) c.9276T>A (p.Leu3092=) c.7425T>A (p.Leu2475=) c.5115T>A (p.Leu1705=) n.9814T>A | |
| 18 | g.23950063T>C | CA503522805 | LAMA3 | c.4719T>C (p.Leu1573=) c.9546T>C (p.Leu3182=) c.6141T>C (p.Leu2047=) c.9378T>C (p.Leu3126=) c.4551T>C (p.Leu1517=) c.67T>C n.4124T>C c.9573T>C (p.Leu3191=) c.9564T>C (p.Leu3188=) c.9555T>C (p.Leu3185=) c.9441T>C (p.Leu3147=) c.9276T>C (p.Leu3092=) c.7425T>C (p.Leu2475=) c.5115T>C (p.Leu1705=) n.9814T>C | ClinVar dbSNP |
| 18 | g.23950063T>G | CA503522804 | LAMA3 | c.4719T>G (p.Leu1573=) c.9546T>G (p.Leu3182=) c.6141T>G (p.Leu2047=) c.9378T>G (p.Leu3126=) c.4551T>G (p.Leu1517=) c.67T>G n.4124T>G c.9573T>G (p.Leu3191=) c.9564T>G (p.Leu3188=) c.9555T>G (p.Leu3185=) c.9441T>G (p.Leu3147=) c.9276T>G (p.Leu3092=) c.7425T>G (p.Leu2475=) c.5115T>G (p.Leu1705=) n.9814T>G | |
| 18 | g.23950064G>A | CA402051945 | LAMA3 | c.4720G>A (p.Val1574Ile) c.9547G>A (p.Val3183Ile) c.6142G>A (p.Val2048Ile) c.9379G>A (p.Val3127Ile) c.4552G>A (p.Val1518Ile) c.68G>A n.4125G>A c.9574G>A (p.Val3192Ile) c.9565G>A (p.Val3189Ile) c.9556G>A (p.Val3186Ile) c.9442G>A (p.Val3148Ile) c.9277G>A (p.Val3093Ile) c.7426G>A (p.Val2476Ile) c.5116G>A (p.Val1706Ile) n.9815G>A | |
| 18 | g.23950064G>C | CA402051944 | LAMA3 | c.4720G>C (p.Val1574Leu) c.9547G>C (p.Val3183Leu) c.6142G>C (p.Val2048Leu) c.9379G>C (p.Val3127Leu) c.4552G>C (p.Val1518Leu) c.68G>C n.4125G>C c.9574G>C (p.Val3192Leu) c.9565G>C (p.Val3189Leu) c.9556G>C (p.Val3186Leu) c.9442G>C (p.Val3148Leu) c.9277G>C (p.Val3093Leu) c.7426G>C (p.Val2476Leu) c.5116G>C (p.Val1706Leu) n.9815G>C | |
| 18 | g.23950064G>T | CA402051946 | LAMA3 | c.4720G>T (p.Val1574Phe) c.9547G>T (p.Val3183Phe) c.6142G>T (p.Val2048Phe) c.9379G>T (p.Val3127Phe) c.4552G>T (p.Val1518Phe) c.68G>T n.4125G>T c.9574G>T (p.Val3192Phe) c.9565G>T (p.Val3189Phe) c.9556G>T (p.Val3186Phe) c.9442G>T (p.Val3148Phe) c.9277G>T (p.Val3093Phe) c.7426G>T (p.Val2476Phe) c.5116G>T (p.Val1706Phe) n.9815G>T | |
| 18 | g.23950065T>A | CA402051947 | LAMA3 | c.4721T>A (p.Val1574Asp) c.9548T>A (p.Val3183Asp) c.6143T>A (p.Val2048Asp) c.9380T>A (p.Val3127Asp) c.4553T>A (p.Val1518Asp) c.69T>A n.4126T>A c.9575T>A (p.Val3192Asp) c.9566T>A (p.Val3189Asp) c.9557T>A (p.Val3186Asp) c.9443T>A (p.Val3148Asp) c.9278T>A (p.Val3093Asp) c.7427T>A (p.Val2476Asp) c.5117T>A (p.Val1706Asp) n.9816T>A | |
| 18 | g.23950065T>C | CA402051948 | LAMA3 | c.4721T>C (p.Val1574Ala) c.9548T>C (p.Val3183Ala) c.6143T>C (p.Val2048Ala) c.9380T>C (p.Val3127Ala) c.4553T>C (p.Val1518Ala) c.69T>C n.4126T>C c.9575T>C (p.Val3192Ala) c.9566T>C (p.Val3189Ala) c.9557T>C (p.Val3186Ala) c.9443T>C (p.Val3148Ala) c.9278T>C (p.Val3093Ala) c.7427T>C (p.Val2476Ala) c.5117T>C (p.Val1706Ala) n.9816T>C | |
| 18 | g.23950065T>G | CA402051949 | LAMA3 | c.4721T>G (p.Val1574Gly) c.9548T>G (p.Val3183Gly) c.6143T>G (p.Val2048Gly) c.9380T>G (p.Val3127Gly) c.4553T>G (p.Val1518Gly) c.69T>G n.4126T>G c.9575T>G (p.Val3192Gly) c.9566T>G (p.Val3189Gly) c.9557T>G (p.Val3186Gly) c.9443T>G (p.Val3148Gly) c.9278T>G (p.Val3093Gly) c.7427T>G (p.Val2476Gly) c.5117T>G (p.Val1706Gly) n.9816T>G | |
| 18 | g.23950066T>A | CA503522806 | LAMA3 | c.4722T>A (p.Val1574=) c.9549T>A (p.Val3183=) c.6144T>A (p.Val2048=) c.9381T>A (p.Val3127=) c.4554T>A (p.Val1518=) c.70T>A n.4127T>A c.9576T>A (p.Val3192=) c.9567T>A (p.Val3189=) c.9558T>A (p.Val3186=) c.9444T>A (p.Val3148=) c.9279T>A (p.Val3093=) c.7428T>A (p.Val2476=) c.5118T>A (p.Val1706=) n.9817T>A | |
| 18 | g.23950066T>C | CA503522807 | LAMA3 | c.4722T>C (p.Val1574=) c.9549T>C (p.Val3183=) c.6144T>C (p.Val2048=) c.9381T>C (p.Val3127=) c.4554T>C (p.Val1518=) c.70T>C n.4127T>C c.9576T>C (p.Val3192=) c.9567T>C (p.Val3189=) c.9558T>C (p.Val3186=) c.9444T>C (p.Val3148=) c.9279T>C (p.Val3093=) c.7428T>C (p.Val2476=) c.5118T>C (p.Val1706=) n.9817T>C | |
| 18 | g.23950066T>G | CA503522808 | LAMA3 | c.4722T>G (p.Val1574=) c.9549T>G (p.Val3183=) c.6144T>G (p.Val2048=) c.9381T>G (p.Val3127=) c.4554T>G (p.Val1518=) c.70T>G n.4127T>G c.9576T>G (p.Val3192=) c.9567T>G (p.Val3189=) c.9558T>G (p.Val3186=) c.9444T>G (p.Val3148=) c.9279T>G (p.Val3093=) c.7428T>G (p.Val2476=) c.5118T>G (p.Val1706=) n.9817T>G | |
| 18 | g.23950067T>A | CA402051950 | LAMA3 | c.4723T>A (p.Phe1575Ile) c.9550T>A (p.Phe3184Ile) c.6145T>A (p.Phe2049Ile) c.9382T>A (p.Phe3128Ile) c.4555T>A (p.Phe1519Ile) c.71T>A n.4128T>A c.9577T>A (p.Phe3193Ile) c.9568T>A (p.Phe3190Ile) c.9559T>A (p.Phe3187Ile) c.9445T>A (p.Phe3149Ile) c.9280T>A (p.Phe3094Ile) c.7429T>A (p.Phe2477Ile) c.5119T>A (p.Phe1707Ile) n.9818T>A | |
| 18 | g.23950067T>C | CA402051951 | LAMA3 | c.4723T>C (p.Phe1575Leu) c.9550T>C (p.Phe3184Leu) c.6145T>C (p.Phe2049Leu) c.9382T>C (p.Phe3128Leu) c.4555T>C (p.Phe1519Leu) c.71T>C n.4128T>C c.9577T>C (p.Phe3193Leu) c.9568T>C (p.Phe3190Leu) c.9559T>C (p.Phe3187Leu) c.9445T>C (p.Phe3149Leu) c.9280T>C (p.Phe3094Leu) c.7429T>C (p.Phe2477Leu) c.5119T>C (p.Phe1707Leu) n.9818T>C | |
| 18 | g.23950067T>G | CA402051952 | LAMA3 | c.4723T>G (p.Phe1575Val) c.9550T>G (p.Phe3184Val) c.6145T>G (p.Phe2049Val) c.9382T>G (p.Phe3128Val) c.4555T>G (p.Phe1519Val) c.71T>G n.4128T>G c.9577T>G (p.Phe3193Val) c.9568T>G (p.Phe3190Val) c.9559T>G (p.Phe3187Val) c.9445T>G (p.Phe3149Val) c.9280T>G (p.Phe3094Val) c.7429T>G (p.Phe2477Val) c.5119T>G (p.Phe1707Val) n.9818T>G | |
| 18 | g.23950068T>A | CA402051953 | LAMA3 | c.4724T>A (p.Phe1575Tyr) c.9551T>A (p.Phe3184Tyr) c.6146T>A (p.Phe2049Tyr) c.9383T>A (p.Phe3128Tyr) c.4556T>A (p.Phe1519Tyr) c.72T>A n.4129T>A c.9578T>A (p.Phe3193Tyr) c.9569T>A (p.Phe3190Tyr) c.9560T>A (p.Phe3187Tyr) c.9446T>A (p.Phe3149Tyr) c.9281T>A (p.Phe3094Tyr) c.7430T>A (p.Phe2477Tyr) c.5120T>A (p.Phe1707Tyr) n.9819T>A | |
| 18 | g.23950068T>C | CA402051954 | LAMA3 | c.4724T>C (p.Phe1575Ser) c.9551T>C (p.Phe3184Ser) c.6146T>C (p.Phe2049Ser) c.9383T>C (p.Phe3128Ser) c.4556T>C (p.Phe1519Ser) c.72T>C n.4129T>C c.9578T>C (p.Phe3193Ser) c.9569T>C (p.Phe3190Ser) c.9560T>C (p.Phe3187Ser) c.9446T>C (p.Phe3149Ser) c.9281T>C (p.Phe3094Ser) c.7430T>C (p.Phe2477Ser) c.5120T>C (p.Phe1707Ser) n.9819T>C | |
| 18 | g.23950068T>G | CA402051955 | LAMA3 | c.4724T>G (p.Phe1575Cys) c.9551T>G (p.Phe3184Cys) c.6146T>G (p.Phe2049Cys) c.9383T>G (p.Phe3128Cys) c.4556T>G (p.Phe1519Cys) c.72T>G n.4129T>G c.9578T>G (p.Phe3193Cys) c.9569T>G (p.Phe3190Cys) c.9560T>G (p.Phe3187Cys) c.9446T>G (p.Phe3149Cys) c.9281T>G (p.Phe3094Cys) c.7430T>G (p.Phe2477Cys) c.5120T>G (p.Phe1707Cys) n.9819T>G | |
| 18 | g.23950069C>A | CA402051956 | LAMA3 | c.4725C>A (p.Phe1575Leu) c.9552C>A (p.Phe3184Leu) c.6147C>A (p.Phe2049Leu) c.9384C>A (p.Phe3128Leu) c.4557C>A (p.Phe1519Leu) c.73C>A n.4130C>A c.9579C>A (p.Phe3193Leu) c.9570C>A (p.Phe3190Leu) c.9561C>A (p.Phe3187Leu) c.9447C>A (p.Phe3149Leu) c.9282C>A (p.Phe3094Leu) c.7431C>A (p.Phe2477Leu) c.5121C>A (p.Phe1707Leu) n.9820C>A | |
| 18 | g.23950069C>G | CA402051957 | LAMA3 | c.4725C>G (p.Phe1575Leu) c.9552C>G (p.Phe3184Leu) c.6147C>G (p.Phe2049Leu) c.9384C>G (p.Phe3128Leu) c.4557C>G (p.Phe1519Leu) c.73C>G n.4130C>G c.9579C>G (p.Phe3193Leu) c.9570C>G (p.Phe3190Leu) c.9561C>G (p.Phe3187Leu) c.9447C>G (p.Phe3149Leu) c.9282C>G (p.Phe3094Leu) c.7431C>G (p.Phe2477Leu) c.5121C>G (p.Phe1707Leu) n.9820C>G | |
| 18 | g.23950069C>T | CA503522812 | LAMA3 | c.4725C>T (p.Phe1575=) c.9552C>T (p.Phe3184=) c.6147C>T (p.Phe2049=) c.9384C>T (p.Phe3128=) c.4557C>T (p.Phe1519=) c.73C>T n.4130C>T c.9579C>T (p.Phe3193=) c.9570C>T (p.Phe3190=) c.9561C>T (p.Phe3187=) c.9447C>T (p.Phe3149=) c.9282C>T (p.Phe3094=) c.7431C>T (p.Phe2477=) c.5121C>T (p.Phe1707=) n.9820C>T | ClinVar dbSNP |
| 18 | g.23950070A= | CA2290344077 | LAMA3 | c.4726A= (p.Ser1576=) c.9553A= (p.Ser3185=) c.6148A= (p.Ser2050=) c.9385A= (p.Ser3129=) c.4558A= (p.Ser1520=) c.74A= n.4131A= c.9580A= (p.Ser3194=) c.9571A= (p.Ser3191=) c.9562A= (p.Ser3188=) c.9448A= (p.Ser3150=) c.9283A= (p.Ser3095=) c.7432A= (p.Ser2478=) c.5122A= (p.Ser1708=) n.9821A= | |
| 18 | g.23950070A>C | CA402051960 | LAMA3 | c.4726A>C (p.Ser1576Arg) c.9553A>C (p.Ser3185Arg) c.6148A>C (p.Ser2050Arg) c.9385A>C (p.Ser3129Arg) c.4558A>C (p.Ser1520Arg) c.74A>C n.4131A>C c.9580A>C (p.Ser3194Arg) c.9571A>C (p.Ser3191Arg) c.9562A>C (p.Ser3188Arg) c.9448A>C (p.Ser3150Arg) c.9283A>C (p.Ser3095Arg) c.7432A>C (p.Ser2478Arg) c.5122A>C (p.Ser1708Arg) n.9821A>C | |
| 18 | g.23950070A>G | CA402051959 | LAMA3 | c.4726A>G (p.Ser1576Gly) c.9553A>G (p.Ser3185Gly) c.6148A>G (p.Ser2050Gly) c.9385A>G (p.Ser3129Gly) c.4558A>G (p.Ser1520Gly) c.74A>G n.4131A>G c.9580A>G (p.Ser3194Gly) c.9571A>G (p.Ser3191Gly) c.9562A>G (p.Ser3188Gly) c.9448A>G (p.Ser3150Gly) c.9283A>G (p.Ser3095Gly) c.7432A>G (p.Ser2478Gly) c.5122A>G (p.Ser1708Gly) n.9821A>G | gnomAD v4 |
| 18 | g.23950070A>T | CA402051958 | LAMA3 | c.4726A>T (p.Ser1576Cys) c.9553A>T (p.Ser3185Cys) c.6148A>T (p.Ser2050Cys) c.9385A>T (p.Ser3129Cys) c.4558A>T (p.Ser1520Cys) c.74A>T n.4131A>T c.9580A>T (p.Ser3194Cys) c.9571A>T (p.Ser3191Cys) c.9562A>T (p.Ser3188Cys) c.9448A>T (p.Ser3150Cys) c.9283A>T (p.Ser3095Cys) c.7432A>T (p.Ser2478Cys) c.5122A>T (p.Ser1708Cys) n.9821A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23950071G>A | CA402051961 | LAMA3 | c.4727G>A (p.Ser1576Asn) c.9554G>A (p.Ser3185Asn) c.6149G>A (p.Ser2050Asn) c.9386G>A (p.Ser3129Asn) c.4559G>A (p.Ser1520Asn) c.75G>A n.4132G>A c.9581G>A (p.Ser3194Asn) c.9572G>A (p.Ser3191Asn) c.9563G>A (p.Ser3188Asn) c.9449G>A (p.Ser3150Asn) c.9284G>A (p.Ser3095Asn) c.7433G>A (p.Ser2478Asn) c.5123G>A (p.Ser1708Asn) n.9822G>A | |
| 18 | g.23950071G>C | CA402051962 | LAMA3 | c.4727G>C (p.Ser1576Thr) c.9554G>C (p.Ser3185Thr) c.6149G>C (p.Ser2050Thr) c.9386G>C (p.Ser3129Thr) c.4559G>C (p.Ser1520Thr) c.75G>C n.4132G>C c.9581G>C (p.Ser3194Thr) c.9572G>C (p.Ser3191Thr) c.9563G>C (p.Ser3188Thr) c.9449G>C (p.Ser3150Thr) c.9284G>C (p.Ser3095Thr) c.7433G>C (p.Ser2478Thr) c.5123G>C (p.Ser1708Thr) n.9822G>C | |
| 18 | g.23950071G= | CA2290344080 | LAMA3 | c.4727G= (p.Ser1576=) c.9554G= (p.Ser3185=) c.6149G= (p.Ser2050=) c.9386G= (p.Ser3129=) c.4559G= (p.Ser1520=) c.75G= n.4132G= c.9581G= (p.Ser3194=) c.9572G= (p.Ser3191=) c.9563G= (p.Ser3188=) c.9449G= (p.Ser3150=) c.9284G= (p.Ser3095=) c.7433G= (p.Ser2478=) c.5123G= (p.Ser1708=) n.9822G= | |
| 18 | g.23950071G>T | CA402051963 | LAMA3 | c.4727G>T (p.Ser1576Ile) c.9554G>T (p.Ser3185Ile) c.6149G>T (p.Ser2050Ile) c.9386G>T (p.Ser3129Ile) c.4559G>T (p.Ser1520Ile) c.75G>T n.4132G>T c.9581G>T (p.Ser3194Ile) c.9572G>T (p.Ser3191Ile) c.9563G>T (p.Ser3188Ile) c.9449G>T (p.Ser3150Ile) c.9284G>T (p.Ser3095Ile) c.7433G>T (p.Ser2478Ile) c.5123G>T (p.Ser1708Ile) n.9822G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23950072C>A | CA402051964 | LAMA3 | c.4728C>A (p.Ser1576Arg) c.9555C>A (p.Ser3185Arg) c.6150C>A (p.Ser2050Arg) c.9387C>A (p.Ser3129Arg) c.4560C>A (p.Ser1520Arg) c.76C>A n.4133C>A c.9582C>A (p.Ser3194Arg) c.9573C>A (p.Ser3191Arg) c.9564C>A (p.Ser3188Arg) c.9450C>A (p.Ser3150Arg) c.9285C>A (p.Ser3095Arg) c.7434C>A (p.Ser2478Arg) c.5124C>A (p.Ser1708Arg) n.9823C>A | |
| 18 | g.23950072C= | CA2290344083 | LAMA3 | c.4728C= (p.Ser1576=) c.9555C= (p.Ser3185=) c.6150C= (p.Ser2050=) c.9387C= (p.Ser3129=) c.4560C= (p.Ser1520=) c.76C= n.4133C= c.9582C= (p.Ser3194=) c.9573C= (p.Ser3191=) c.9564C= (p.Ser3188=) c.9450C= (p.Ser3150=) c.9285C= (p.Ser3095=) c.7434C= (p.Ser2478=) c.5124C= (p.Ser1708=) n.9823C= | |
| 18 | g.23950072C>G | CA402051965 | LAMA3 | c.4728C>G (p.Ser1576Arg) c.9555C>G (p.Ser3185Arg) c.6150C>G (p.Ser2050Arg) c.9387C>G (p.Ser3129Arg) c.4560C>G (p.Ser1520Arg) c.76C>G n.4133C>G c.9582C>G (p.Ser3194Arg) c.9573C>G (p.Ser3191Arg) c.9564C>G (p.Ser3188Arg) c.9450C>G (p.Ser3150Arg) c.9285C>G (p.Ser3095Arg) c.7434C>G (p.Ser2478Arg) c.5124C>G (p.Ser1708Arg) n.9823C>G | |
| 18 | g.23950072C>T | CA503522813 | LAMA3 | c.4728C>T (p.Ser1576=) c.9555C>T (p.Ser3185=) c.6150C>T (p.Ser2050=) c.9387C>T (p.Ser3129=) c.4560C>T (p.Ser1520=) c.76C>T n.4133C>T c.9582C>T (p.Ser3194=) c.9573C>T (p.Ser3191=) c.9564C>T (p.Ser3188=) c.9450C>T (p.Ser3150=) c.9285C>T (p.Ser3095=) c.7434C>T (p.Ser2478=) c.5124C>T (p.Ser1708=) n.9823C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23950073A>C | CA402051966 | LAMA3 | c.4729A>C (p.Ile1577Leu) c.9556A>C (p.Ile3186Leu) c.6151A>C (p.Ile2051Leu) c.9388A>C (p.Ile3130Leu) c.4561A>C (p.Ile1521Leu) c.77A>C n.4134A>C c.9583A>C (p.Ile3195Leu) c.9574A>C (p.Ile3192Leu) c.9565A>C (p.Ile3189Leu) c.9451A>C (p.Ile3151Leu) c.9286A>C (p.Ile3096Leu) c.7435A>C (p.Ile2479Leu) c.5125A>C (p.Ile1709Leu) n.9824A>C |