Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.133133511C>A | CA372253133 | TG | c.8039C>A (p.Thr2680Lys) c.3405C>A c.2438C>A (p.Thr813Lys) c.251C>A (p.Thr84Lys) n.125C>A c.4694C>A c.7847C>A (p.Thr2616Lys) c.7976C>A (p.Thr2659Lys) c.7973C>A (p.Thr2658Lys) c.7904C>A (p.Thr2635Lys) c.7868C>A (p.Thr2623Lys) c.7820C>A (p.Thr2607Lys) c.7778C>A (p.Thr2593Lys) | |
8 | g.133133511C= | CA1821104901 | TG | c.8039C= (p.Thr2680=) c.3405C= c.2438C= (p.Thr813=) c.251C= (p.Thr84=) n.125C= c.4694C= c.7847C= (p.Thr2616=) c.7976C= (p.Thr2659=) c.7973C= (p.Thr2658=) c.7904C= (p.Thr2635=) c.7868C= (p.Thr2623=) c.7820C= (p.Thr2607=) c.7778C= (p.Thr2593=) | |
8 | g.133133511C>G | CA372253131 | TG | c.8039C>G (p.Thr2680Arg) c.3405C>G c.2438C>G (p.Thr813Arg) c.251C>G (p.Thr84Arg) n.125C>G c.4694C>G c.7847C>G (p.Thr2616Arg) c.7976C>G (p.Thr2659Arg) c.7973C>G (p.Thr2658Arg) c.7904C>G (p.Thr2635Arg) c.7868C>G (p.Thr2623Arg) c.7820C>G (p.Thr2607Arg) c.7778C>G (p.Thr2593Arg) | |
8 | g.133133511C>T | CA372253129 | TG | c.8039C>T (p.Thr2680Ile) c.3405C>T c.2438C>T (p.Thr813Ile) c.251C>T (p.Thr84Ile) n.125C>T c.4694C>T c.7847C>T (p.Thr2616Ile) c.7976C>T (p.Thr2659Ile) c.7973C>T (p.Thr2658Ile) c.7904C>T (p.Thr2635Ile) c.7868C>T (p.Thr2623Ile) c.7820C>T (p.Thr2607Ile) c.7778C>T (p.Thr2593Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133512A>C | CA463017045 | TG | c.8040A>C (p.Thr2680=) c.3406A>C c.2439A>C (p.Thr813=) c.252A>C (p.Thr84=) n.126A>C c.4695A>C c.7848A>C (p.Thr2616=) c.7977A>C (p.Thr2659=) c.7974A>C (p.Thr2658=) c.7905A>C (p.Thr2635=) c.7869A>C (p.Thr2623=) c.7821A>C (p.Thr2607=) c.7779A>C (p.Thr2593=) | |
8 | g.133133512A>G | CA463017048 | TG | c.8040A>G (p.Thr2680=) c.3406A>G c.2439A>G (p.Thr813=) c.252A>G (p.Thr84=) n.126A>G c.4695A>G c.7848A>G (p.Thr2616=) c.7977A>G (p.Thr2659=) c.7974A>G (p.Thr2658=) c.7905A>G (p.Thr2635=) c.7869A>G (p.Thr2623=) c.7821A>G (p.Thr2607=) c.7779A>G (p.Thr2593=) | |
8 | g.133133512A>T | CA463017051 | TG | c.8040A>T (p.Thr2680=) c.3406A>T c.2439A>T (p.Thr813=) c.252A>T (p.Thr84=) n.126A>T c.4695A>T c.7848A>T (p.Thr2616=) c.7977A>T (p.Thr2659=) c.7974A>T (p.Thr2658=) c.7905A>T (p.Thr2635=) c.7869A>T (p.Thr2623=) c.7821A>T (p.Thr2607=) c.7779A>T (p.Thr2593=) | |
8 | g.133133513T>A | CA372253135 | TG | c.8041T>A (p.Phe2681Ile) c.3407T>A c.2440T>A (p.Phe814Ile) c.253T>A (p.Phe85Ile) n.127T>A c.4696T>A c.7849T>A (p.Phe2617Ile) c.7978T>A (p.Phe2660Ile) c.7975T>A (p.Phe2659Ile) c.7906T>A (p.Phe2636Ile) c.7870T>A (p.Phe2624Ile) c.7822T>A (p.Phe2608Ile) c.7780T>A (p.Phe2594Ile) | dbSNP |
8 | g.133133513T>C | CA372253137 | TG | c.8041T>C (p.Phe2681Leu) c.3407T>C c.2440T>C (p.Phe814Leu) c.253T>C (p.Phe85Leu) n.127T>C c.4696T>C c.7849T>C (p.Phe2617Leu) c.7978T>C (p.Phe2660Leu) c.7975T>C (p.Phe2659Leu) c.7906T>C (p.Phe2636Leu) c.7870T>C (p.Phe2624Leu) c.7822T>C (p.Phe2608Leu) c.7780T>C (p.Phe2594Leu) | |
8 | g.133133513T>G | CA372253139 | TG | c.8041T>G (p.Phe2681Val) c.3407T>G c.2440T>G (p.Phe814Val) c.253T>G (p.Phe85Val) n.127T>G c.4696T>G c.7849T>G (p.Phe2617Val) c.7978T>G (p.Phe2660Val) c.7975T>G (p.Phe2659Val) c.7906T>G (p.Phe2636Val) c.7870T>G (p.Phe2624Val) c.7822T>G (p.Phe2608Val) c.7780T>G (p.Phe2594Val) | |
8 | g.133133513T= | CA1821104902 | TG | c.8041T= (p.Phe2681=) c.3407T= c.2440T= (p.Phe814=) c.253T= (p.Phe85=) n.127T= c.4696T= c.7849T= (p.Phe2617=) c.7978T= (p.Phe2660=) c.7975T= (p.Phe2659=) c.7906T= (p.Phe2636=) c.7870T= (p.Phe2624=) c.7822T= (p.Phe2608=) c.7780T= (p.Phe2594=) | |
8 | g.133133514T>A | CA372253141 | TG | c.8042T>A (p.Phe2681Tyr) c.3408T>A c.2441T>A (p.Phe814Tyr) c.254T>A (p.Phe85Tyr) n.128T>A c.4697T>A c.7850T>A (p.Phe2617Tyr) c.7979T>A (p.Phe2660Tyr) c.7976T>A (p.Phe2659Tyr) c.7907T>A (p.Phe2636Tyr) c.7871T>A (p.Phe2624Tyr) c.7823T>A (p.Phe2608Tyr) c.7781T>A (p.Phe2594Tyr) | |
8 | g.133133514T>C | CA372253143 | TG | c.8042T>C (p.Phe2681Ser) c.3408T>C c.2441T>C (p.Phe814Ser) c.254T>C (p.Phe85Ser) n.128T>C c.4697T>C c.7850T>C (p.Phe2617Ser) c.7979T>C (p.Phe2660Ser) c.7976T>C (p.Phe2659Ser) c.7907T>C (p.Phe2636Ser) c.7871T>C (p.Phe2624Ser) c.7823T>C (p.Phe2608Ser) c.7781T>C (p.Phe2594Ser) | |
8 | g.133133514T>G | CA372253146 | TG | c.8042T>G (p.Phe2681Cys) c.3408T>G c.2441T>G (p.Phe814Cys) c.254T>G (p.Phe85Cys) n.128T>G c.4697T>G c.7850T>G (p.Phe2617Cys) c.7979T>G (p.Phe2660Cys) c.7976T>G (p.Phe2659Cys) c.7907T>G (p.Phe2636Cys) c.7871T>G (p.Phe2624Cys) c.7823T>G (p.Phe2608Cys) c.7781T>G (p.Phe2594Cys) | |
8 | g.133133515T>A | CA372253149 | TG | c.8043T>A (p.Phe2681Leu) c.3409T>A c.2442T>A (p.Phe814Leu) c.255T>A (p.Phe85Leu) n.129T>A c.4698T>A c.7851T>A (p.Phe2617Leu) c.7980T>A (p.Phe2660Leu) c.7977T>A (p.Phe2659Leu) c.7908T>A (p.Phe2636Leu) c.7872T>A (p.Phe2624Leu) c.7824T>A (p.Phe2608Leu) c.7782T>A (p.Phe2594Leu) | |
8 | g.133133515T>C | CA463017053 | TG | c.8043T>C (p.Phe2681=) c.3409T>C c.2442T>C (p.Phe814=) c.255T>C (p.Phe85=) n.129T>C c.4698T>C c.7851T>C (p.Phe2617=) c.7980T>C (p.Phe2660=) c.7977T>C (p.Phe2659=) c.7908T>C (p.Phe2636=) c.7872T>C (p.Phe2624=) c.7824T>C (p.Phe2608=) c.7782T>C (p.Phe2594=) | ClinVar dbSNP |
8 | g.133133515T>G | CA372253150 | TG | c.8043T>G (p.Phe2681Leu) c.3409T>G c.2442T>G (p.Phe814Leu) c.255T>G (p.Phe85Leu) n.129T>G c.4698T>G c.7851T>G (p.Phe2617Leu) c.7980T>G (p.Phe2660Leu) c.7977T>G (p.Phe2659Leu) c.7908T>G (p.Phe2636Leu) c.7872T>G (p.Phe2624Leu) c.7824T>G (p.Phe2608Leu) c.7782T>G (p.Phe2594Leu) | |
8 | g.133133515T= | CA1821104903 | TG | c.8043T= (p.Phe2681=) c.3409T= c.2442T= (p.Phe814=) c.255T= (p.Phe85=) n.129T= c.4698T= c.7851T= (p.Phe2617=) c.7980T= (p.Phe2660=) c.7977T= (p.Phe2659=) c.7908T= (p.Phe2636=) c.7872T= (p.Phe2624=) c.7824T= (p.Phe2608=) c.7782T= (p.Phe2594=) | |
8 | g.133133516G>A | CA372253151 | TG | c.8044G>A (p.Ala2682Thr) c.3410G>A c.2443G>A (p.Ala815Thr) c.256G>A (p.Ala86Thr) n.130G>A c.4699G>A c.7852G>A (p.Ala2618Thr) c.7981G>A (p.Ala2661Thr) c.7978G>A (p.Ala2660Thr) c.7909G>A (p.Ala2637Thr) c.7873G>A (p.Ala2625Thr) c.7825G>A (p.Ala2609Thr) c.7783G>A (p.Ala2595Thr) | dbSNP |
8 | g.133133516G>C | CA372253153 | TG | c.8044G>C (p.Ala2682Pro) c.3410G>C c.2443G>C (p.Ala815Pro) c.256G>C (p.Ala86Pro) n.130G>C c.4699G>C c.7852G>C (p.Ala2618Pro) c.7981G>C (p.Ala2661Pro) c.7978G>C (p.Ala2660Pro) c.7909G>C (p.Ala2637Pro) c.7873G>C (p.Ala2625Pro) c.7825G>C (p.Ala2609Pro) c.7783G>C (p.Ala2595Pro) | |
8 | g.133133516G= | CA1821104904 | TG | c.8044G= (p.Ala2682=) c.3410G= c.2443G= (p.Ala815=) c.256G= (p.Ala86=) n.130G= c.4699G= c.7852G= (p.Ala2618=) c.7981G= (p.Ala2661=) c.7978G= (p.Ala2660=) c.7909G= (p.Ala2637=) c.7873G= (p.Ala2625=) c.7825G= (p.Ala2609=) c.7783G= (p.Ala2595=) | |
8 | g.133133516G>T | CA372253155 | TG | c.8044G>T (p.Ala2682Ser) c.3410G>T c.2443G>T (p.Ala815Ser) c.256G>T (p.Ala86Ser) n.130G>T c.4699G>T c.7852G>T (p.Ala2618Ser) c.7981G>T (p.Ala2661Ser) c.7978G>T (p.Ala2660Ser) c.7909G>T (p.Ala2637Ser) c.7873G>T (p.Ala2625Ser) c.7825G>T (p.Ala2609Ser) c.7783G>T (p.Ala2595Ser) | |
8 | g.133133517C>A | CA372253159 | TG | c.8045C>A (p.Ala2682Glu) c.3411C>A c.2444C>A (p.Ala815Glu) c.257C>A (p.Ala86Glu) n.131C>A c.4700C>A c.7853C>A (p.Ala2618Glu) c.7982C>A (p.Ala2661Glu) c.7979C>A (p.Ala2660Glu) c.7910C>A (p.Ala2637Glu) c.7874C>A (p.Ala2625Glu) c.7826C>A (p.Ala2609Glu) c.7784C>A (p.Ala2595Glu) | |
8 | g.133133517C= | CA1821104905 | TG | c.8045C= (p.Ala2682=) c.3411C= c.2444C= (p.Ala815=) c.257C= (p.Ala86=) n.131C= c.4700C= c.7853C= (p.Ala2618=) c.7982C= (p.Ala2661=) c.7979C= (p.Ala2660=) c.7910C= (p.Ala2637=) c.7874C= (p.Ala2625=) c.7826C= (p.Ala2609=) c.7784C= (p.Ala2595=) | |
8 | g.133133517C>G | CA372253161 | TG | c.8045C>G (p.Ala2682Gly) c.3411C>G c.2444C>G (p.Ala815Gly) c.257C>G (p.Ala86Gly) n.131C>G c.4700C>G c.7853C>G (p.Ala2618Gly) c.7982C>G (p.Ala2661Gly) c.7979C>G (p.Ala2660Gly) c.7910C>G (p.Ala2637Gly) c.7874C>G (p.Ala2625Gly) c.7826C>G (p.Ala2609Gly) c.7784C>G (p.Ala2595Gly) | |
8 | g.133133517C>T | CA372253157 | TG | c.8045C>T (p.Ala2682Val) c.3411C>T c.2444C>T (p.Ala815Val) c.257C>T (p.Ala86Val) n.131C>T c.4700C>T c.7853C>T (p.Ala2618Val) c.7982C>T (p.Ala2661Val) c.7979C>T (p.Ala2660Val) c.7910C>T (p.Ala2637Val) c.7874C>T (p.Ala2625Val) c.7826C>T (p.Ala2609Val) c.7784C>T (p.Ala2595Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133518A= | CA1821104906 | TG | c.8046A= (p.Ala2682=) c.3412A= c.2445A= (p.Ala815=) c.258A= (p.Ala86=) n.132A= c.4701A= c.7854A= (p.Ala2618=) c.7983A= (p.Ala2661=) c.7980A= (p.Ala2660=) c.7911A= (p.Ala2637=) c.7875A= (p.Ala2625=) c.7827A= (p.Ala2609=) c.7785A= (p.Ala2595=) | |
8 | g.133133518A>C | CA463017058 | TG | c.8046A>C (p.Ala2682=) c.3412A>C c.2445A>C (p.Ala815=) c.258A>C (p.Ala86=) n.132A>C c.4701A>C c.7854A>C (p.Ala2618=) c.7983A>C (p.Ala2661=) c.7980A>C (p.Ala2660=) c.7911A>C (p.Ala2637=) c.7875A>C (p.Ala2625=) c.7827A>C (p.Ala2609=) c.7785A>C (p.Ala2595=) | ClinVar dbSNP |
8 | g.133133518A>G | CA463017057 | TG | c.8046A>G (p.Ala2682=) c.3412A>G c.2445A>G (p.Ala815=) c.258A>G (p.Ala86=) n.132A>G c.4701A>G c.7854A>G (p.Ala2618=) c.7983A>G (p.Ala2661=) c.7980A>G (p.Ala2660=) c.7911A>G (p.Ala2637=) c.7875A>G (p.Ala2625=) c.7827A>G (p.Ala2609=) c.7785A>G (p.Ala2595=) | |
8 | g.133133518A>T | CA463017056 | TG | c.8046A>T (p.Ala2682=) c.3412A>T c.2445A>T (p.Ala815=) c.258A>T (p.Ala86=) n.132A>T c.4701A>T c.7854A>T (p.Ala2618=) c.7983A>T (p.Ala2661=) c.7980A>T (p.Ala2660=) c.7911A>T (p.Ala2637=) c.7875A>T (p.Ala2625=) c.7827A>T (p.Ala2609=) c.7785A>T (p.Ala2595=) | |
8 | g.133133518_133133519insCTCGGT | CA1821104907 | TG | c.8046_8047insCTCGGT (p.Ala2682_Thr2683insLeuGly) c.3412_3413insCTCGGT c.2445_2446insCTCGGT (p.Ala815_Thr816insLeuGly) c.258_259insCTCGGT (p.Ala86_Thr87insLeuGly) n.132_133insCTCGGT c.4701_4702insCTCGGT c.7854_7855insCTCGGT (p.Ala2618_Thr2619insLeuGly) c.7983_7984insCTCGGT (p.Ala2661_Thr2662insLeuGly) c.7980_7981insCTCGGT (p.Ala2660_Thr2661insLeuGly) c.7911_7912insCTCGGT (p.Ala2637_Thr2638insLeuGly) c.7875_7876insCTCGGT (p.Ala2625_Thr2626insLeuGly) c.7827_7828insCTCGGT (p.Ala2609_Thr2610insLeuGly) c.7785_7786insCTCGGT (p.Ala2595_Thr2596insLeuGly) | dbSNP |
8 | g.133133519A>C | CA372253162 | TG | c.8047A>C (p.Thr2683Pro) c.3413A>C c.2446A>C (p.Thr816Pro) c.259A>C (p.Thr87Pro) n.133A>C c.4702A>C c.7855A>C (p.Thr2619Pro) c.7984A>C (p.Thr2662Pro) c.7981A>C (p.Thr2661Pro) c.7912A>C (p.Thr2638Pro) c.7876A>C (p.Thr2626Pro) c.7828A>C (p.Thr2610Pro) c.7786A>C (p.Thr2596Pro) | |
8 | g.133133519A>G | CA372253164 | TG | c.8047A>G (p.Thr2683Ala) c.3413A>G c.2446A>G (p.Thr816Ala) c.259A>G (p.Thr87Ala) n.133A>G c.4702A>G c.7855A>G (p.Thr2619Ala) c.7984A>G (p.Thr2662Ala) c.7981A>G (p.Thr2661Ala) c.7912A>G (p.Thr2638Ala) c.7876A>G (p.Thr2626Ala) c.7828A>G (p.Thr2610Ala) c.7786A>G (p.Thr2596Ala) | |
8 | g.133133519A>T | CA372253165 | TG | c.8047A>T (p.Thr2683Ser) c.3413A>T c.2446A>T (p.Thr816Ser) c.259A>T (p.Thr87Ser) n.133A>T c.4702A>T c.7855A>T (p.Thr2619Ser) c.7984A>T (p.Thr2662Ser) c.7981A>T (p.Thr2661Ser) c.7912A>T (p.Thr2638Ser) c.7876A>T (p.Thr2626Ser) c.7828A>T (p.Thr2610Ser) c.7786A>T (p.Thr2596Ser) | |
8 | g.133133520C>A | CA372253166 | TG | c.8048C>A (p.Thr2683Asn) c.3414C>A c.2447C>A (p.Thr816Asn) c.260C>A (p.Thr87Asn) n.134C>A c.4703C>A c.7856C>A (p.Thr2619Asn) c.7985C>A (p.Thr2662Asn) c.7982C>A (p.Thr2661Asn) c.7913C>A (p.Thr2638Asn) c.7877C>A (p.Thr2626Asn) c.7829C>A (p.Thr2610Asn) c.7787C>A (p.Thr2596Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133520C= | CA1821104908 | TG | c.8048C= (p.Thr2683=) c.3414C= c.2447C= (p.Thr816=) c.260C= (p.Thr87=) n.134C= c.4703C= c.7856C= (p.Thr2619=) c.7985C= (p.Thr2662=) c.7982C= (p.Thr2661=) c.7913C= (p.Thr2638=) c.7877C= (p.Thr2626=) c.7829C= (p.Thr2610=) c.7787C= (p.Thr2596=) | |
8 | g.133133520C>G | CA372253167 | TG | c.8048C>G (p.Thr2683Ser) c.3414C>G c.2447C>G (p.Thr816Ser) c.260C>G (p.Thr87Ser) n.134C>G c.4703C>G c.7856C>G (p.Thr2619Ser) c.7985C>G (p.Thr2662Ser) c.7982C>G (p.Thr2661Ser) c.7913C>G (p.Thr2638Ser) c.7877C>G (p.Thr2626Ser) c.7829C>G (p.Thr2610Ser) c.7787C>G (p.Thr2596Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133520C>T | CA372253168 | TG | c.8048C>T (p.Thr2683Ile) c.3414C>T c.2447C>T (p.Thr816Ile) c.260C>T (p.Thr87Ile) n.134C>T c.4703C>T c.7856C>T (p.Thr2619Ile) c.7985C>T (p.Thr2662Ile) c.7982C>T (p.Thr2661Ile) c.7913C>T (p.Thr2638Ile) c.7877C>T (p.Thr2626Ile) c.7829C>T (p.Thr2610Ile) c.7787C>T (p.Thr2596Ile) | gnomAD v4 |
8 | g.133133524del | CA463017066 | TG | c.8052del (p.Trp2685GlyfsTer26) c.3418del c.2451del (p.Trp818GlyfsTer26) c.264del (p.Trp89GlyfsTer26) n.138del c.4707del c.7860del (p.Trp2621GlyfsTer26) c.7989del (p.Trp2664GlyfsTer26) c.7986del (p.Trp2663GlyfsTer26) c.7917del (p.Trp2640GlyfsTer26) c.7881del (p.Trp2628GlyfsTer26) c.7833del (p.Trp2612GlyfsTer26) c.7791del (p.Trp2598GlyfsTer26) | COSMIC |
8 | g.133133521C>A | CA463017067 | TG | c.8049C>A (p.Thr2683=) c.3415C>A c.2448C>A (p.Thr816=) c.261C>A (p.Thr87=) n.135C>A c.4704C>A c.7857C>A (p.Thr2619=) c.7986C>A (p.Thr2662=) c.7983C>A (p.Thr2661=) c.7914C>A (p.Thr2638=) c.7878C>A (p.Thr2626=) c.7830C>A (p.Thr2610=) c.7788C>A (p.Thr2596=) | gnomAD v4 |
8 | g.133133521C>G | CA463017068 | TG | c.8049C>G (p.Thr2683=) c.3415C>G c.2448C>G (p.Thr816=) c.261C>G (p.Thr87=) n.135C>G c.4704C>G c.7857C>G (p.Thr2619=) c.7986C>G (p.Thr2662=) c.7983C>G (p.Thr2661=) c.7914C>G (p.Thr2638=) c.7878C>G (p.Thr2626=) c.7830C>G (p.Thr2610=) c.7788C>G (p.Thr2596=) | |
8 | g.133133521C>T | CA463017070 | TG | c.8049C>T (p.Thr2683=) c.3415C>T c.2448C>T (p.Thr816=) c.261C>T (p.Thr87=) n.135C>T c.4704C>T c.7857C>T (p.Thr2619=) c.7986C>T (p.Thr2662=) c.7983C>T (p.Thr2661=) c.7914C>T (p.Thr2638=) c.7878C>T (p.Thr2626=) c.7830C>T (p.Thr2610=) c.7788C>T (p.Thr2596=) | ClinVar gnomAD v4 |
8 | g.133133522C>A | CA372253169 | TG | c.8050C>A (p.Pro2684Thr) c.3416C>A c.2449C>A (p.Pro817Thr) c.262C>A (p.Pro88Thr) n.136C>A c.4705C>A c.7858C>A (p.Pro2620Thr) c.7987C>A (p.Pro2663Thr) c.7984C>A (p.Pro2662Thr) c.7915C>A (p.Pro2639Thr) c.7879C>A (p.Pro2627Thr) c.7831C>A (p.Pro2611Thr) c.7789C>A (p.Pro2597Thr) | |
8 | g.133133522C>G | CA372253170 | TG | c.8050C>G (p.Pro2684Ala) c.3416C>G c.2449C>G (p.Pro817Ala) c.262C>G (p.Pro88Ala) n.136C>G c.4705C>G c.7858C>G (p.Pro2620Ala) c.7987C>G (p.Pro2663Ala) c.7984C>G (p.Pro2662Ala) c.7915C>G (p.Pro2639Ala) c.7879C>G (p.Pro2627Ala) c.7831C>G (p.Pro2611Ala) c.7789C>G (p.Pro2597Ala) | |
8 | g.133133522C>T | CA372253171 | TG | c.8050C>T (p.Pro2684Ser) c.3416C>T c.2449C>T (p.Pro817Ser) c.262C>T (p.Pro88Ser) n.136C>T c.4705C>T c.7858C>T (p.Pro2620Ser) c.7987C>T (p.Pro2663Ser) c.7984C>T (p.Pro2662Ser) c.7915C>T (p.Pro2639Ser) c.7879C>T (p.Pro2627Ser) c.7831C>T (p.Pro2611Ser) c.7789C>T (p.Pro2597Ser) | |
8 | g.133133523C>A | CA372253173 | TG | c.8051C>A (p.Pro2684His) c.3417C>A c.2450C>A (p.Pro817His) c.263C>A (p.Pro88His) n.137C>A c.4706C>A c.7859C>A (p.Pro2620His) c.7988C>A (p.Pro2663His) c.7985C>A (p.Pro2662His) c.7916C>A (p.Pro2639His) c.7880C>A (p.Pro2627His) c.7832C>A (p.Pro2611His) c.7790C>A (p.Pro2597His) | |
8 | g.133133523C>G | CA372253175 | TG | c.8051C>G (p.Pro2684Arg) c.3417C>G c.2450C>G (p.Pro817Arg) c.263C>G (p.Pro88Arg) n.137C>G c.4706C>G c.7859C>G (p.Pro2620Arg) c.7988C>G (p.Pro2663Arg) c.7985C>G (p.Pro2662Arg) c.7916C>G (p.Pro2639Arg) c.7880C>G (p.Pro2627Arg) c.7832C>G (p.Pro2611Arg) c.7790C>G (p.Pro2597Arg) | gnomAD v4 |
8 | g.133133523C>T | CA372253177 | TG | c.8051C>T (p.Pro2684Leu) c.3417C>T c.2450C>T (p.Pro817Leu) c.263C>T (p.Pro88Leu) n.137C>T c.4706C>T c.7859C>T (p.Pro2620Leu) c.7988C>T (p.Pro2663Leu) c.7985C>T (p.Pro2662Leu) c.7916C>T (p.Pro2639Leu) c.7880C>T (p.Pro2627Leu) c.7832C>T (p.Pro2611Leu) c.7790C>T (p.Pro2597Leu) | |
8 | g.133133524C>A | CA463017071 | TG | c.8052C>A (p.Pro2684=) c.3418C>A c.2451C>A (p.Pro817=) c.264C>A (p.Pro88=) n.138C>A c.4707C>A c.7860C>A (p.Pro2620=) c.7989C>A (p.Pro2663=) c.7986C>A (p.Pro2662=) c.7917C>A (p.Pro2639=) c.7881C>A (p.Pro2627=) c.7833C>A (p.Pro2611=) c.7791C>A (p.Pro2597=) | |
8 | g.133133524C>G | CA463017072 | TG | c.8052C>G (p.Pro2684=) c.3418C>G c.2451C>G (p.Pro817=) c.264C>G (p.Pro88=) n.138C>G c.4707C>G c.7860C>G (p.Pro2620=) c.7989C>G (p.Pro2663=) c.7986C>G (p.Pro2662=) c.7917C>G (p.Pro2639=) c.7881C>G (p.Pro2627=) c.7833C>G (p.Pro2611=) c.7791C>G (p.Pro2597=) | gnomAD v4 |
8 | g.133133524C>T | CA463017073 | TG | c.8052C>T (p.Pro2684=) c.3418C>T c.2451C>T (p.Pro817=) c.264C>T (p.Pro88=) n.138C>T c.4707C>T c.7860C>T (p.Pro2620=) c.7989C>T (p.Pro2663=) c.7986C>T (p.Pro2662=) c.7917C>T (p.Pro2639=) c.7881C>T (p.Pro2627=) c.7833C>T (p.Pro2611=) c.7791C>T (p.Pro2597=) | |
8 | g.133133525T>A | CA372253183 | TG | c.8053T>A (p.Trp2685Arg) c.3419T>A c.2452T>A (p.Trp818Arg) c.265T>A (p.Trp89Arg) n.139T>A c.4708T>A c.7861T>A (p.Trp2621Arg) c.7990T>A (p.Trp2664Arg) c.7987T>A (p.Trp2663Arg) c.7918T>A (p.Trp2640Arg) c.7882T>A (p.Trp2628Arg) c.7834T>A (p.Trp2612Arg) c.7792T>A (p.Trp2598Arg) | |
8 | g.133133525T>C | CA372253179 | TG | c.8053T>C (p.Trp2685Arg) c.3419T>C c.2452T>C (p.Trp818Arg) c.265T>C (p.Trp89Arg) n.139T>C c.4708T>C c.7861T>C (p.Trp2621Arg) c.7990T>C (p.Trp2664Arg) c.7987T>C (p.Trp2663Arg) c.7918T>C (p.Trp2640Arg) c.7882T>C (p.Trp2628Arg) c.7834T>C (p.Trp2612Arg) c.7792T>C (p.Trp2598Arg) | |
8 | g.133133525T>G | CA372253181 | TG | c.8053T>G (p.Trp2685Gly) c.3419T>G c.2452T>G (p.Trp818Gly) c.265T>G (p.Trp89Gly) n.139T>G c.4708T>G c.7861T>G (p.Trp2621Gly) c.7990T>G (p.Trp2664Gly) c.7987T>G (p.Trp2663Gly) c.7918T>G (p.Trp2640Gly) c.7882T>G (p.Trp2628Gly) c.7834T>G (p.Trp2612Gly) c.7792T>G (p.Trp2598Gly) | |
8 | g.133133526G>A | CA372253185 | TG | c.8054G>A (p.Trp2685Ter) c.3420G>A c.2453G>A (p.Trp818Ter) c.266G>A (p.Trp89Ter) n.140G>A c.4709G>A c.7862G>A (p.Trp2621Ter) c.7991G>A (p.Trp2664Ter) c.7988G>A (p.Trp2663Ter) c.7919G>A (p.Trp2640Ter) c.7883G>A (p.Trp2628Ter) c.7835G>A (p.Trp2612Ter) c.7793G>A (p.Trp2598Ter) | |
8 | g.133133526G>C | CA372253187 | TG | c.8054G>C (p.Trp2685Ser) c.3420G>C c.2453G>C (p.Trp818Ser) c.266G>C (p.Trp89Ser) n.140G>C c.4709G>C c.7862G>C (p.Trp2621Ser) c.7991G>C (p.Trp2664Ser) c.7988G>C (p.Trp2663Ser) c.7919G>C (p.Trp2640Ser) c.7883G>C (p.Trp2628Ser) c.7835G>C (p.Trp2612Ser) c.7793G>C (p.Trp2598Ser) | |
8 | g.133133526G>T | CA372253189 | TG | c.8054G>T (p.Trp2685Leu) c.3420G>T c.2453G>T (p.Trp818Leu) c.266G>T (p.Trp89Leu) n.140G>T c.4709G>T c.7862G>T (p.Trp2621Leu) c.7991G>T (p.Trp2664Leu) c.7988G>T (p.Trp2663Leu) c.7919G>T (p.Trp2640Leu) c.7883G>T (p.Trp2628Leu) c.7835G>T (p.Trp2612Leu) c.7793G>T (p.Trp2598Leu) | |
8 | g.133133527G>A | CA372253191 | TG | c.8055G>A (p.Trp2685Ter) c.3421G>A c.2454G>A (p.Trp818Ter) c.267G>A (p.Trp89Ter) n.141G>A c.4710G>A c.7863G>A (p.Trp2621Ter) c.7992G>A (p.Trp2664Ter) c.7989G>A (p.Trp2663Ter) c.7920G>A (p.Trp2640Ter) c.7884G>A (p.Trp2628Ter) c.7836G>A (p.Trp2612Ter) c.7794G>A (p.Trp2598Ter) | ClinVar dbSNP |
8 | g.133133527G>C | CA372253192 | TG | c.8055G>C (p.Trp2685Cys) c.3421G>C c.2454G>C (p.Trp818Cys) c.267G>C (p.Trp89Cys) n.141G>C c.4710G>C c.7863G>C (p.Trp2621Cys) c.7992G>C (p.Trp2664Cys) c.7989G>C (p.Trp2663Cys) c.7920G>C (p.Trp2640Cys) c.7884G>C (p.Trp2628Cys) c.7836G>C (p.Trp2612Cys) c.7794G>C (p.Trp2598Cys) | |
8 | g.133133527G= | CA1821104910 | TG | c.8055G= (p.Trp2685=) c.3421G= c.2454G= (p.Trp818=) c.267G= (p.Trp89=) n.141G= c.4710G= c.7863G= (p.Trp2621=) c.7992G= (p.Trp2664=) c.7989G= (p.Trp2663=) c.7920G= (p.Trp2640=) c.7884G= (p.Trp2628=) c.7836G= (p.Trp2612=) c.7794G= (p.Trp2598=) | |
8 | g.133133527G>T | CA372253193 | TG | c.8055G>T (p.Trp2685Cys) c.3421G>T c.2454G>T (p.Trp818Cys) c.267G>T (p.Trp89Cys) n.141G>T c.4710G>T c.7863G>T (p.Trp2621Cys) c.7992G>T (p.Trp2664Cys) c.7989G>T (p.Trp2663Cys) c.7920G>T (p.Trp2640Cys) c.7884G>T (p.Trp2628Cys) c.7836G>T (p.Trp2612Cys) c.7794G>T (p.Trp2598Cys) | gnomAD v4 |
8 | g.133133527_133133528delinsGC | CA1821104909 | TG | c.8055_8056delinsGC (p.Trp2685=) c.3421_3422delinsGC c.2454_2455delinsGC (p.Trp818=) c.267_268delinsGC (p.Trp89=) n.141_142delinsGC c.4710_4711delinsGC c.7863_7864delinsGC (p.Trp2621=) c.7992_7993delinsGC (p.Trp2664=) c.7989_7990delinsGC (p.Trp2663=) c.7920_7921delinsGC (p.Trp2640=) c.7884_7885delinsGC (p.Trp2628=) c.7836_7837delinsGC (p.Trp2612=) c.7794_7795delinsGC (p.Trp2598=) | |
8 | g.133133528C>A | CA372253195 | TG | c.8056C>A (p.Pro2686Thr) c.3422C>A c.2455C>A (p.Pro819Thr) c.268C>A (p.Pro90Thr) n.142C>A c.4711C>A c.7864C>A (p.Pro2622Thr) c.7993C>A (p.Pro2665Thr) c.7990C>A (p.Pro2664Thr) c.7921C>A (p.Pro2641Thr) c.7885C>A (p.Pro2629Thr) c.7837C>A (p.Pro2613Thr) c.7795C>A (p.Pro2599Thr) | ClinVar |
8 | g.133133528C= | CA1821104911 | TG | c.8056C= (p.Pro2686=) c.3422C= c.2455C= (p.Pro819=) c.268C= (p.Pro90=) n.142C= c.4711C= c.7864C= (p.Pro2622=) c.7993C= (p.Pro2665=) c.7990C= (p.Pro2664=) c.7921C= (p.Pro2641=) c.7885C= (p.Pro2629=) c.7837C= (p.Pro2613=) c.7795C= (p.Pro2599=) | |
8 | g.133133528C>G | CA372253196 | TG | c.8056C>G (p.Pro2686Ala) c.3422C>G c.2455C>G (p.Pro819Ala) c.268C>G (p.Pro90Ala) n.142C>G c.4711C>G c.7864C>G (p.Pro2622Ala) c.7993C>G (p.Pro2665Ala) c.7990C>G (p.Pro2664Ala) c.7921C>G (p.Pro2641Ala) c.7885C>G (p.Pro2629Ala) c.7837C>G (p.Pro2613Ala) c.7795C>G (p.Pro2599Ala) | dbSNP |
8 | g.133133528C>T | CA372253198 | TG | c.8056C>T (p.Pro2686Ser) c.3422C>T c.2455C>T (p.Pro819Ser) c.268C>T (p.Pro90Ser) n.142C>T c.4711C>T c.7864C>T (p.Pro2622Ser) c.7993C>T (p.Pro2665Ser) c.7990C>T (p.Pro2664Ser) c.7921C>T (p.Pro2641Ser) c.7885C>T (p.Pro2629Ser) c.7837C>T (p.Pro2613Ser) c.7795C>T (p.Pro2599Ser) | COSMIC |
8 | g.133133529del | CA585277894 | TG | c.8057del (p.Pro2686LeufsTer25) c.3423del c.2456del (p.Pro819LeufsTer25) c.269del (p.Pro90LeufsTer25) n.143del c.4712del c.7865del (p.Pro2622LeufsTer25) c.7994del (p.Pro2665LeufsTer25) c.7991del (p.Pro2664LeufsTer25) c.7922del (p.Pro2641LeufsTer25) c.7886del (p.Pro2629LeufsTer25) c.7838del (p.Pro2613LeufsTer25) c.7796del (p.Pro2599LeufsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133529C>A | CA372253200 | TG | c.8057C>A (p.Pro2686His) c.3423C>A c.2456C>A (p.Pro819His) c.269C>A (p.Pro90His) n.143C>A c.4712C>A c.7865C>A (p.Pro2622His) c.7994C>A (p.Pro2665His) c.7991C>A (p.Pro2664His) c.7922C>A (p.Pro2641His) c.7886C>A (p.Pro2629His) c.7838C>A (p.Pro2613His) c.7796C>A (p.Pro2599His) | |
8 | g.133133529C>G | CA372253201 | TG | c.8057C>G (p.Pro2686Arg) c.3423C>G c.2456C>G (p.Pro819Arg) c.269C>G (p.Pro90Arg) n.143C>G c.4712C>G c.7865C>G (p.Pro2622Arg) c.7994C>G (p.Pro2665Arg) c.7991C>G (p.Pro2664Arg) c.7922C>G (p.Pro2641Arg) c.7886C>G (p.Pro2629Arg) c.7838C>G (p.Pro2613Arg) c.7796C>G (p.Pro2599Arg) | |
8 | g.133133529C>T | CA372253202 | TG | c.8057C>T (p.Pro2686Leu) c.3423C>T c.2456C>T (p.Pro819Leu) c.269C>T (p.Pro90Leu) n.143C>T c.4712C>T c.7865C>T (p.Pro2622Leu) c.7994C>T (p.Pro2665Leu) c.7991C>T (p.Pro2664Leu) c.7922C>T (p.Pro2641Leu) c.7886C>T (p.Pro2629Leu) c.7838C>T (p.Pro2613Leu) c.7796C>T (p.Pro2599Leu) | |
8 | g.133133530T>A | CA463017083 | TG | c.8058T>A (p.Pro2686=) c.3424T>A c.2457T>A (p.Pro819=) c.270T>A (p.Pro90=) n.144T>A c.4713T>A c.7866T>A (p.Pro2622=) c.7995T>A (p.Pro2665=) c.7992T>A (p.Pro2664=) c.7923T>A (p.Pro2641=) c.7887T>A (p.Pro2629=) c.7839T>A (p.Pro2613=) c.7797T>A (p.Pro2599=) | |
8 | g.133133530T>C | CA4885881 | TG | c.8058T>C (p.Pro2686=) c.3424T>C c.2457T>C (p.Pro819=) c.270T>C (p.Pro90=) n.144T>C c.4713T>C c.7866T>C (p.Pro2622=) c.7995T>C (p.Pro2665=) c.7992T>C (p.Pro2664=) c.7923T>C (p.Pro2641=) c.7887T>C (p.Pro2629=) c.7839T>C (p.Pro2613=) c.7797T>C (p.Pro2599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133530T>G | CA463017085 | TG | c.8058T>G (p.Pro2686=) c.3424T>G c.2457T>G (p.Pro819=) c.270T>G (p.Pro90=) n.144T>G c.4713T>G c.7866T>G (p.Pro2622=) c.7995T>G (p.Pro2665=) c.7992T>G (p.Pro2664=) c.7923T>G (p.Pro2641=) c.7887T>G (p.Pro2629=) c.7839T>G (p.Pro2613=) c.7797T>G (p.Pro2599=) | |
8 | g.133133530T= | CA1821104912 | TG | c.8058T= (p.Pro2686=) c.3424T= c.2457T= (p.Pro819=) c.270T= (p.Pro90=) n.144T= c.4713T= c.7866T= (p.Pro2622=) c.7995T= (p.Pro2665=) c.7992T= (p.Pro2664=) c.7923T= (p.Pro2641=) c.7887T= (p.Pro2629=) c.7839T= (p.Pro2613=) c.7797T= (p.Pro2599=) | |
8 | g.133133531G>A | CA372253207 | TG | c.8059G>A (p.Asp2687Asn) c.3425G>A c.2458G>A (p.Asp820Asn) c.271G>A (p.Asp91Asn) n.145G>A c.4714G>A c.7867G>A (p.Asp2623Asn) c.7996G>A (p.Asp2666Asn) c.7993G>A (p.Asp2665Asn) c.7924G>A (p.Asp2642Asn) c.7888G>A (p.Asp2630Asn) c.7840G>A (p.Asp2614Asn) c.7798G>A (p.Asp2600Asn) | |
8 | g.133133531G>C | CA372253209 | TG | c.8059G>C (p.Asp2687His) c.3425G>C c.2458G>C (p.Asp820His) c.271G>C (p.Asp91His) n.145G>C c.4714G>C c.7867G>C (p.Asp2623His) c.7996G>C (p.Asp2666His) c.7993G>C (p.Asp2665His) c.7924G>C (p.Asp2642His) c.7888G>C (p.Asp2630His) c.7840G>C (p.Asp2614His) c.7798G>C (p.Asp2600His) | COSMIC |
8 | g.133133531G>T | CA372253206 | TG | c.8059G>T (p.Asp2687Tyr) c.3425G>T c.2458G>T (p.Asp820Tyr) c.271G>T (p.Asp91Tyr) n.145G>T c.4714G>T c.7867G>T (p.Asp2623Tyr) c.7996G>T (p.Asp2666Tyr) c.7993G>T (p.Asp2665Tyr) c.7924G>T (p.Asp2642Tyr) c.7888G>T (p.Asp2630Tyr) c.7840G>T (p.Asp2614Tyr) c.7798G>T (p.Asp2600Tyr) | |
8 | g.133133532A= | CA1821104913 | TG | c.8060A= (p.Asp2687=) c.3426A= c.2459A= (p.Asp820=) c.272A= (p.Asp91=) n.146A= c.4715A= c.7868A= (p.Asp2623=) c.7997A= (p.Asp2666=) c.7994A= (p.Asp2665=) c.7925A= (p.Asp2642=) c.7889A= (p.Asp2630=) c.7841A= (p.Asp2614=) c.7799A= (p.Asp2600=) | |
8 | g.133133532A>C | CA372253214 | TG | c.8060A>C (p.Asp2687Ala) c.3426A>C c.2459A>C (p.Asp820Ala) c.272A>C (p.Asp91Ala) n.146A>C c.4715A>C c.7868A>C (p.Asp2623Ala) c.7997A>C (p.Asp2666Ala) c.7994A>C (p.Asp2665Ala) c.7925A>C (p.Asp2642Ala) c.7889A>C (p.Asp2630Ala) c.7841A>C (p.Asp2614Ala) c.7799A>C (p.Asp2600Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133532A>G | CA4885882 | TG | c.8060A>G (p.Asp2687Gly) c.3426A>G c.2459A>G (p.Asp820Gly) c.272A>G (p.Asp91Gly) n.146A>G c.4715A>G c.7868A>G (p.Asp2623Gly) c.7997A>G (p.Asp2666Gly) c.7994A>G (p.Asp2665Gly) c.7925A>G (p.Asp2642Gly) c.7889A>G (p.Asp2630Gly) c.7841A>G (p.Asp2614Gly) c.7799A>G (p.Asp2600Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133532A>T | CA372253212 | TG | c.8060A>T (p.Asp2687Val) c.3426A>T c.2459A>T (p.Asp820Val) c.272A>T (p.Asp91Val) n.146A>T c.4715A>T c.7868A>T (p.Asp2623Val) c.7997A>T (p.Asp2666Val) c.7994A>T (p.Asp2665Val) c.7925A>T (p.Asp2642Val) c.7889A>T (p.Asp2630Val) c.7841A>T (p.Asp2614Val) c.7799A>T (p.Asp2600Val) | COSMIC |
8 | g.133133533C>A | CA186356683 | TG | c.8061C>A (p.Asp2687Glu) c.3427C>A c.2460C>A (p.Asp820Glu) c.273C>A (p.Asp91Glu) n.147C>A c.4716C>A c.7869C>A (p.Asp2623Glu) c.7998C>A (p.Asp2666Glu) c.7995C>A (p.Asp2665Glu) c.7926C>A (p.Asp2642Glu) c.7890C>A (p.Asp2630Glu) c.7842C>A (p.Asp2614Glu) c.7800C>A (p.Asp2600Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.133133533C= | CA1821104914 | TG | c.8061C= (p.Asp2687=) c.3427C= c.2460C= (p.Asp820=) c.273C= (p.Asp91=) n.147C= c.4716C= c.7869C= (p.Asp2623=) c.7998C= (p.Asp2666=) c.7995C= (p.Asp2665=) c.7926C= (p.Asp2642=) c.7890C= (p.Asp2630=) c.7842C= (p.Asp2614=) c.7800C= (p.Asp2600=) | |
8 | g.133133533C>G | CA372253217 | TG | c.8061C>G (p.Asp2687Glu) c.3427C>G c.2460C>G (p.Asp820Glu) c.273C>G (p.Asp91Glu) n.147C>G c.4716C>G c.7869C>G (p.Asp2623Glu) c.7998C>G (p.Asp2666Glu) c.7995C>G (p.Asp2665Glu) c.7926C>G (p.Asp2642Glu) c.7890C>G (p.Asp2630Glu) c.7842C>G (p.Asp2614Glu) c.7800C>G (p.Asp2600Glu) | |
8 | g.133133533C>T | CA186356684 | TG | c.8061C>T (p.Asp2687=) c.3427C>T c.2460C>T (p.Asp820=) c.273C>T (p.Asp91=) n.147C>T c.4716C>T c.7869C>T (p.Asp2623=) c.7998C>T (p.Asp2666=) c.7995C>T (p.Asp2665=) c.7926C>T (p.Asp2642=) c.7890C>T (p.Asp2630=) c.7842C>T (p.Asp2614=) c.7800C>T (p.Asp2600=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133534T>A | CA372253221 | TG | c.8062T>A (p.Phe2688Ile) c.3428T>A c.2461T>A (p.Phe821Ile) c.274T>A (p.Phe92Ile) n.148T>A c.4717T>A c.7870T>A (p.Phe2624Ile) c.7999T>A (p.Phe2667Ile) c.7996T>A (p.Phe2666Ile) c.7927T>A (p.Phe2643Ile) c.7891T>A (p.Phe2631Ile) c.7843T>A (p.Phe2615Ile) c.7801T>A (p.Phe2601Ile) | |
8 | g.133133534T>C | CA372253222 | TG | c.8062T>C (p.Phe2688Leu) c.3428T>C c.2461T>C (p.Phe821Leu) c.274T>C (p.Phe92Leu) n.148T>C c.4717T>C c.7870T>C (p.Phe2624Leu) c.7999T>C (p.Phe2667Leu) c.7996T>C (p.Phe2666Leu) c.7927T>C (p.Phe2643Leu) c.7891T>C (p.Phe2631Leu) c.7843T>C (p.Phe2615Leu) c.7801T>C (p.Phe2601Leu) | |
8 | g.133133534T>G | CA372253224 | TG | c.8062T>G (p.Phe2688Val) c.3428T>G c.2461T>G (p.Phe821Val) c.274T>G (p.Phe92Val) n.148T>G c.4717T>G c.7870T>G (p.Phe2624Val) c.7999T>G (p.Phe2667Val) c.7996T>G (p.Phe2666Val) c.7927T>G (p.Phe2643Val) c.7891T>G (p.Phe2631Val) c.7843T>G (p.Phe2615Val) c.7801T>G (p.Phe2601Val) | |
8 | g.133133535T>A | CA372253227 | TG | c.8063T>A (p.Phe2688Tyr) c.3429T>A c.2462T>A (p.Phe821Tyr) c.275T>A (p.Phe92Tyr) n.149T>A c.4718T>A c.7871T>A (p.Phe2624Tyr) c.8000T>A (p.Phe2667Tyr) c.7997T>A (p.Phe2666Tyr) c.7928T>A (p.Phe2643Tyr) c.7892T>A (p.Phe2631Tyr) c.7844T>A (p.Phe2615Tyr) c.7802T>A (p.Phe2601Tyr) | |
8 | g.133133535T>C | CA372253228 | TG | c.8063T>C (p.Phe2688Ser) c.3429T>C c.2462T>C (p.Phe821Ser) c.275T>C (p.Phe92Ser) n.149T>C c.4718T>C c.7871T>C (p.Phe2624Ser) c.8000T>C (p.Phe2667Ser) c.7997T>C (p.Phe2666Ser) c.7928T>C (p.Phe2643Ser) c.7892T>C (p.Phe2631Ser) c.7844T>C (p.Phe2615Ser) c.7802T>C (p.Phe2601Ser) | |
8 | g.133133535T>G | CA372253230 | TG | c.8063T>G (p.Phe2688Cys) c.3429T>G c.2462T>G (p.Phe821Cys) c.275T>G (p.Phe92Cys) n.149T>G c.4718T>G c.7871T>G (p.Phe2624Cys) c.8000T>G (p.Phe2667Cys) c.7997T>G (p.Phe2666Cys) c.7928T>G (p.Phe2643Cys) c.7892T>G (p.Phe2631Cys) c.7844T>G (p.Phe2615Cys) c.7802T>G (p.Phe2601Cys) | |
8 | g.133133536T>A | CA372253232 | TG | c.8064T>A (p.Phe2688Leu) c.3430T>A c.2463T>A (p.Phe821Leu) c.276T>A (p.Phe92Leu) n.150T>A c.4719T>A c.7872T>A (p.Phe2624Leu) c.8001T>A (p.Phe2667Leu) c.7998T>A (p.Phe2666Leu) c.7929T>A (p.Phe2643Leu) c.7893T>A (p.Phe2631Leu) c.7845T>A (p.Phe2615Leu) c.7803T>A (p.Phe2601Leu) | |
8 | g.133133536T>C | CA463017097 | TG | c.8064T>C (p.Phe2688=) c.3430T>C c.2463T>C (p.Phe821=) c.276T>C (p.Phe92=) n.150T>C c.4719T>C c.7872T>C (p.Phe2624=) c.8001T>C (p.Phe2667=) c.7998T>C (p.Phe2666=) c.7929T>C (p.Phe2643=) c.7893T>C (p.Phe2631=) c.7845T>C (p.Phe2615=) c.7803T>C (p.Phe2601=) | dbSNP |
8 | g.133133536T>G | CA372253234 | TG | c.8064T>G (p.Phe2688Leu) c.3430T>G c.2463T>G (p.Phe821Leu) c.276T>G (p.Phe92Leu) n.150T>G c.4719T>G c.7872T>G (p.Phe2624Leu) c.8001T>G (p.Phe2667Leu) c.7998T>G (p.Phe2666Leu) c.7929T>G (p.Phe2643Leu) c.7893T>G (p.Phe2631Leu) c.7845T>G (p.Phe2615Leu) c.7803T>G (p.Phe2601Leu) | |
8 | g.133133536T= | CA1821104915 | TG | c.8064T= (p.Phe2688=) c.3430T= c.2463T= (p.Phe821=) c.276T= (p.Phe92=) n.150T= c.4719T= c.7872T= (p.Phe2624=) c.8001T= (p.Phe2667=) c.7998T= (p.Phe2666=) c.7929T= (p.Phe2643=) c.7893T= (p.Phe2631=) c.7845T= (p.Phe2615=) c.7803T= (p.Phe2601=) | |
8 | g.133133537G>A | CA372253236 | TG | c.8065G>A (p.Val2689Ile) c.3431G>A c.2464G>A (p.Val822Ile) c.277G>A (p.Val93Ile) n.151G>A c.4720G>A c.7873G>A (p.Val2625Ile) c.8002G>A (p.Val2668Ile) c.7999G>A (p.Val2667Ile) c.7930G>A (p.Val2644Ile) c.7894G>A (p.Val2632Ile) c.7846G>A (p.Val2616Ile) c.7804G>A (p.Val2602Ile) | gnomAD v4 |
8 | g.133133537G>C | CA4885883 | TG | c.8065G>C (p.Val2689Leu) c.3431G>C c.2464G>C (p.Val822Leu) c.277G>C (p.Val93Leu) n.151G>C c.4720G>C c.7873G>C (p.Val2625Leu) c.8002G>C (p.Val2668Leu) c.7999G>C (p.Val2667Leu) c.7930G>C (p.Val2644Leu) c.7894G>C (p.Val2632Leu) c.7846G>C (p.Val2616Leu) c.7804G>C (p.Val2602Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133537G= | CA1821104916 | TG | c.8065G= (p.Val2689=) c.3431G= c.2464G= (p.Val822=) c.277G= (p.Val93=) n.151G= c.4720G= c.7873G= (p.Val2625=) c.8002G= (p.Val2668=) c.7999G= (p.Val2667=) c.7930G= (p.Val2644=) c.7894G= (p.Val2632=) c.7846G= (p.Val2616=) c.7804G= (p.Val2602=) | |
8 | g.133133537G>T | CA372253237 | TG | c.8065G>T (p.Val2689Leu) c.3431G>T c.2464G>T (p.Val822Leu) c.277G>T (p.Val93Leu) n.151G>T c.4720G>T c.7873G>T (p.Val2625Leu) c.8002G>T (p.Val2668Leu) c.7999G>T (p.Val2667Leu) c.7930G>T (p.Val2644Leu) c.7894G>T (p.Val2632Leu) c.7846G>T (p.Val2616Leu) c.7804G>T (p.Val2602Leu) | dbSNP gnomAD v4 |
8 | g.133133538T>A | CA372253241 | TG | c.8066T>A (p.Val2689Glu) c.3432T>A c.2465T>A (p.Val822Glu) c.278T>A (p.Val93Glu) n.152T>A c.4721T>A c.7874T>A (p.Val2625Glu) c.8003T>A (p.Val2668Glu) c.8000T>A (p.Val2667Glu) c.7931T>A (p.Val2644Glu) c.7895T>A (p.Val2632Glu) c.7847T>A (p.Val2616Glu) c.7805T>A (p.Val2602Glu) | |
8 | g.133133538T>C | CA372253242 | TG | c.8066T>C (p.Val2689Ala) c.3432T>C c.2465T>C (p.Val822Ala) c.278T>C (p.Val93Ala) n.152T>C c.4721T>C c.7874T>C (p.Val2625Ala) c.8003T>C (p.Val2668Ala) c.8000T>C (p.Val2667Ala) c.7931T>C (p.Val2644Ala) c.7895T>C (p.Val2632Ala) c.7847T>C (p.Val2616Ala) c.7805T>C (p.Val2602Ala) | |
8 | g.133133538T>G | CA372253244 | TG | c.8066T>G (p.Val2689Gly) c.3432T>G c.2465T>G (p.Val822Gly) c.278T>G (p.Val93Gly) n.152T>G c.4721T>G c.7874T>G (p.Val2625Gly) c.8003T>G (p.Val2668Gly) c.8000T>G (p.Val2667Gly) c.7931T>G (p.Val2644Gly) c.7895T>G (p.Val2632Gly) c.7847T>G (p.Val2616Gly) c.7805T>G (p.Val2602Gly) | |
8 | g.133133539A= | CA1821104918 | TG | c.8067A= (p.Val2689=) c.3433A= c.2466A= (p.Val822=) c.279A= (p.Val93=) n.153A= c.4722A= c.7875A= (p.Val2625=) c.8004A= (p.Val2668=) c.8001A= (p.Val2667=) c.7932A= (p.Val2644=) c.7896A= (p.Val2632=) c.7848A= (p.Val2616=) c.7806A= (p.Val2602=) | |
8 | g.133133539A>C | CA463017106 | TG | c.8067A>C (p.Val2689=) c.3433A>C c.2466A>C (p.Val822=) c.279A>C (p.Val93=) n.153A>C c.4722A>C c.7875A>C (p.Val2625=) c.8004A>C (p.Val2668=) c.8001A>C (p.Val2667=) c.7932A>C (p.Val2644=) c.7896A>C (p.Val2632=) c.7848A>C (p.Val2616=) c.7806A>C (p.Val2602=) | |
8 | g.133133539A>G | CA463017105 | TG | c.8067A>G (p.Val2689=) c.3433A>G c.2466A>G (p.Val822=) c.279A>G (p.Val93=) n.153A>G c.4722A>G c.7875A>G (p.Val2625=) c.8004A>G (p.Val2668=) c.8001A>G (p.Val2667=) c.7932A>G (p.Val2644=) c.7896A>G (p.Val2632=) c.7848A>G (p.Val2616=) c.7806A>G (p.Val2602=) | dbSNP gnomAD v4 |
8 | g.133133539A>T | CA463017104 | TG | c.8067A>T (p.Val2689=) c.3433A>T c.2466A>T (p.Val822=) c.279A>T (p.Val93=) n.153A>T c.4722A>T c.7875A>T (p.Val2625=) c.8004A>T (p.Val2668=) c.8001A>T (p.Val2667=) c.7932A>T (p.Val2644=) c.7896A>T (p.Val2632=) c.7848A>T (p.Val2616=) c.7806A>T (p.Val2602=) | |
8 | g.133133539_133133540delinsAC | CA1821104917 | TG | c.8067_8068delinsAC (p.Val2689=) c.3433_3434delinsAC c.2466_2467delinsAC (p.Val822=) c.279_280delinsAC (p.Val93=) n.153_154delinsAC c.4722_4723delinsAC c.7875_7876delinsAC (p.Val2625=) c.8004_8005delinsAC (p.Val2668=) c.8001_8002delinsAC (p.Val2667=) c.7932_7933delinsAC (p.Val2644=) c.7896_7897delinsAC (p.Val2632=) c.7848_7849delinsAC (p.Val2616=) c.7806_7807delinsAC (p.Val2602=) | |
8 | g.133133540C>A | CA372253246 | TG | c.8068C>A (p.Pro2690Thr) c.3434C>A c.2467C>A (p.Pro823Thr) c.280C>A (p.Pro94Thr) n.154C>A c.4723C>A c.7876C>A (p.Pro2626Thr) c.8005C>A (p.Pro2669Thr) c.8002C>A (p.Pro2668Thr) c.7933C>A (p.Pro2645Thr) c.7897C>A (p.Pro2633Thr) c.7849C>A (p.Pro2617Thr) c.7807C>A (p.Pro2603Thr) | gnomAD v4 |
8 | g.133133540C>G | CA372253248 | TG | c.8068C>G (p.Pro2690Ala) c.3434C>G c.2467C>G (p.Pro823Ala) c.280C>G (p.Pro94Ala) n.154C>G c.4723C>G c.7876C>G (p.Pro2626Ala) c.8005C>G (p.Pro2669Ala) c.8002C>G (p.Pro2668Ala) c.7933C>G (p.Pro2645Ala) c.7897C>G (p.Pro2633Ala) c.7849C>G (p.Pro2617Ala) c.7807C>G (p.Pro2603Ala) | |
8 | g.133133540C>T | CA372253250 | TG | c.8068C>T (p.Pro2690Ser) c.3434C>T c.2467C>T (p.Pro823Ser) c.280C>T (p.Pro94Ser) n.154C>T c.4723C>T c.7876C>T (p.Pro2626Ser) c.8005C>T (p.Pro2669Ser) c.8002C>T (p.Pro2668Ser) c.7933C>T (p.Pro2645Ser) c.7897C>T (p.Pro2633Ser) c.7849C>T (p.Pro2617Ser) c.7807C>T (p.Pro2603Ser) | |
8 | g.133133543del | CA4885884 | TG | c.8071del (p.Arg2691ValfsTer20) c.3437del c.2470del (p.Arg824ValfsTer20) c.283del (p.Arg95ValfsTer20) n.157del c.4726del c.7879del (p.Arg2627ValfsTer20) c.8008del (p.Arg2670ValfsTer20) c.8005del (p.Arg2669ValfsTer20) c.7936del (p.Arg2646ValfsTer20) c.7900del (p.Arg2634ValfsTer20) c.7852del (p.Arg2618ValfsTer20) c.7810del (p.Arg2604ValfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133541C>A | CA372253252 | TG | c.8069C>A (p.Pro2690His) c.3435C>A c.2468C>A (p.Pro823His) c.281C>A (p.Pro94His) n.155C>A c.4724C>A c.7877C>A (p.Pro2626His) c.8006C>A (p.Pro2669His) c.8003C>A (p.Pro2668His) c.7934C>A (p.Pro2645His) c.7898C>A (p.Pro2633His) c.7850C>A (p.Pro2617His) c.7808C>A (p.Pro2603His) | gnomAD v4 |
8 | g.133133541C= | CA1821104919 | TG | c.8069C= (p.Pro2690=) c.3435C= c.2468C= (p.Pro823=) c.281C= (p.Pro94=) n.155C= c.4724C= c.7877C= (p.Pro2626=) c.8006C= (p.Pro2669=) c.8003C= (p.Pro2668=) c.7934C= (p.Pro2645=) c.7898C= (p.Pro2633=) c.7850C= (p.Pro2617=) c.7808C= (p.Pro2603=) | |
8 | g.133133541C>G | CA186356686 | TG | c.8069C>G (p.Pro2690Arg) c.3435C>G c.2468C>G (p.Pro823Arg) c.281C>G (p.Pro94Arg) n.155C>G c.4724C>G c.7877C>G (p.Pro2626Arg) c.8006C>G (p.Pro2669Arg) c.8003C>G (p.Pro2668Arg) c.7934C>G (p.Pro2645Arg) c.7898C>G (p.Pro2633Arg) c.7850C>G (p.Pro2617Arg) c.7808C>G (p.Pro2603Arg) | dbSNP gnomAD v4 |
8 | g.133133541C>T | CA372253254 | TG | c.8069C>T (p.Pro2690Leu) c.3435C>T c.2468C>T (p.Pro823Leu) c.281C>T (p.Pro94Leu) n.155C>T c.4724C>T c.7877C>T (p.Pro2626Leu) c.8006C>T (p.Pro2669Leu) c.8003C>T (p.Pro2668Leu) c.7934C>T (p.Pro2645Leu) c.7898C>T (p.Pro2633Leu) c.7850C>T (p.Pro2617Leu) c.7808C>T (p.Pro2603Leu) | |
8 | g.133133541_133133542delinsTT | CA645557842 | TG | c.8069_8070delinsTT (p.Pro2690Leu) c.3435_3436delinsTT c.2468_2469delinsTT (p.Pro823Leu) c.281_282delinsTT (p.Pro94Leu) n.155_156delinsTT c.4724_4725delinsTT c.7877_7878delinsTT (p.Pro2626Leu) c.8006_8007delinsTT (p.Pro2669Leu) c.8003_8004delinsTT (p.Pro2668Leu) c.7934_7935delinsTT (p.Pro2645Leu) c.7898_7899delinsTT (p.Pro2633Leu) c.7850_7851delinsTT (p.Pro2617Leu) c.7808_7809delinsTT (p.Pro2603Leu) | COSMIC |
8 | g.133133542C>A | CA463017113 | TG | c.8070C>A (p.Pro2690=) c.3436C>A c.2469C>A (p.Pro823=) c.282C>A (p.Pro94=) n.156C>A c.4725C>A c.7878C>A (p.Pro2626=) c.8007C>A (p.Pro2669=) c.8004C>A (p.Pro2668=) c.7935C>A (p.Pro2645=) c.7899C>A (p.Pro2633=) c.7851C>A (p.Pro2617=) c.7809C>A (p.Pro2603=) | |
8 | g.133133542C= | CA1821104920 | TG | c.8070C= (p.Pro2690=) c.3436C= c.2469C= (p.Pro823=) c.282C= (p.Pro94=) n.156C= c.4725C= c.7878C= (p.Pro2626=) c.8007C= (p.Pro2669=) c.8004C= (p.Pro2668=) c.7935C= (p.Pro2645=) c.7899C= (p.Pro2633=) c.7851C= (p.Pro2617=) c.7809C= (p.Pro2603=) | |
8 | g.133133542C>G | CA4885885 | TG | c.8070C>G (p.Pro2690=) c.3436C>G c.2469C>G (p.Pro823=) c.282C>G (p.Pro94=) n.156C>G c.4725C>G c.7878C>G (p.Pro2626=) c.8007C>G (p.Pro2669=) c.8004C>G (p.Pro2668=) c.7935C>G (p.Pro2645=) c.7899C>G (p.Pro2633=) c.7851C>G (p.Pro2617=) c.7809C>G (p.Pro2603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133542C>T | CA463017114 | TG | c.8070C>T (p.Pro2690=) c.3436C>T c.2469C>T (p.Pro823=) c.282C>T (p.Pro94=) n.156C>T c.4725C>T c.7878C>T (p.Pro2626=) c.8007C>T (p.Pro2669=) c.8004C>T (p.Pro2668=) c.7935C>T (p.Pro2645=) c.7899C>T (p.Pro2633=) c.7851C>T (p.Pro2617=) c.7809C>T (p.Pro2603=) | COSMIC |
8 | g.133133543C>A | CA372253257 | TG | c.8071C>A (p.Arg2691Ser) c.3437C>A c.2470C>A (p.Arg824Ser) c.283C>A (p.Arg95Ser) n.157C>A c.4726C>A c.7879C>A (p.Arg2627Ser) c.8008C>A (p.Arg2670Ser) c.8005C>A (p.Arg2669Ser) c.7936C>A (p.Arg2646Ser) c.7900C>A (p.Arg2634Ser) c.7852C>A (p.Arg2618Ser) c.7810C>A (p.Arg2604Ser) | |
8 | g.133133543C= | CA1821104921 | TG | c.8071C= (p.Arg2691=) c.3437C= c.2470C= (p.Arg824=) c.283C= (p.Arg95=) n.157C= c.4726C= c.7879C= (p.Arg2627=) c.8008C= (p.Arg2670=) c.8005C= (p.Arg2669=) c.7936C= (p.Arg2646=) c.7900C= (p.Arg2634=) c.7852C= (p.Arg2618=) c.7810C= (p.Arg2604=) | |
8 | g.133133543C>G | CA372253258 | TG | c.8071C>G (p.Arg2691Gly) c.3437C>G c.2470C>G (p.Arg824Gly) c.283C>G (p.Arg95Gly) n.157C>G c.4726C>G c.7879C>G (p.Arg2627Gly) c.8008C>G (p.Arg2670Gly) c.8005C>G (p.Arg2669Gly) c.7936C>G (p.Arg2646Gly) c.7900C>G (p.Arg2634Gly) c.7852C>G (p.Arg2618Gly) c.7810C>G (p.Arg2604Gly) | gnomAD v4 |
8 | g.133133543C>T | CA4885886 | TG | c.8071C>T (p.Arg2691Cys) c.3437C>T c.2470C>T (p.Arg824Cys) c.283C>T (p.Arg95Cys) n.157C>T c.4726C>T c.7879C>T (p.Arg2627Cys) c.8008C>T (p.Arg2670Cys) c.8005C>T (p.Arg2669Cys) c.7936C>T (p.Arg2646Cys) c.7900C>T (p.Arg2634Cys) c.7852C>T (p.Arg2618Cys) c.7810C>T (p.Arg2604Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133544G>A | CA4885887 | TG | c.8072G>A (p.Arg2691His) c.3438G>A c.2471G>A (p.Arg824His) c.284G>A (p.Arg95His) n.158G>A c.4727G>A c.7880G>A (p.Arg2627His) c.8009G>A (p.Arg2670His) c.8006G>A (p.Arg2669His) c.7937G>A (p.Arg2646His) c.7901G>A (p.Arg2634His) c.7853G>A (p.Arg2618His) c.7811G>A (p.Arg2604His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133544G>C | CA372253261 | TG | c.8072G>C (p.Arg2691Pro) c.3438G>C c.2471G>C (p.Arg824Pro) c.284G>C (p.Arg95Pro) n.158G>C c.4727G>C c.7880G>C (p.Arg2627Pro) c.8009G>C (p.Arg2670Pro) c.8006G>C (p.Arg2669Pro) c.7937G>C (p.Arg2646Pro) c.7901G>C (p.Arg2634Pro) c.7853G>C (p.Arg2618Pro) c.7811G>C (p.Arg2604Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133544G= | CA1821104922 | TG | c.8072G= (p.Arg2691=) c.3438G= c.2471G= (p.Arg824=) c.284G= (p.Arg95=) n.158G= c.4727G= c.7880G= (p.Arg2627=) c.8009G= (p.Arg2670=) c.8006G= (p.Arg2669=) c.7937G= (p.Arg2646=) c.7901G= (p.Arg2634=) c.7853G= (p.Arg2618=) c.7811G= (p.Arg2604=) | |
8 | g.133133544G>T | CA372253263 | TG | c.8072G>T (p.Arg2691Leu) c.3438G>T c.2471G>T (p.Arg824Leu) c.284G>T (p.Arg95Leu) n.158G>T c.4727G>T c.7880G>T (p.Arg2627Leu) c.8009G>T (p.Arg2670Leu) c.8006G>T (p.Arg2669Leu) c.7937G>T (p.Arg2646Leu) c.7901G>T (p.Arg2634Leu) c.7853G>T (p.Arg2618Leu) c.7811G>T (p.Arg2604Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133545T>A | CA463017120 | TG | c.8073T>A (p.Arg2691=) c.3439T>A c.2472T>A (p.Arg824=) c.285T>A (p.Arg95=) n.159T>A c.4728T>A c.7881T>A (p.Arg2627=) c.8010T>A (p.Arg2670=) c.8007T>A (p.Arg2669=) c.7938T>A (p.Arg2646=) c.7902T>A (p.Arg2634=) c.7854T>A (p.Arg2618=) c.7812T>A (p.Arg2604=) | |
8 | g.133133545T>C | CA463017121 | TG | c.8073T>C (p.Arg2691=) c.3439T>C c.2472T>C (p.Arg824=) c.285T>C (p.Arg95=) n.159T>C c.4728T>C c.7881T>C (p.Arg2627=) c.8010T>C (p.Arg2670=) c.8007T>C (p.Arg2669=) c.7938T>C (p.Arg2646=) c.7902T>C (p.Arg2634=) c.7854T>C (p.Arg2618=) c.7812T>C (p.Arg2604=) | ClinVar gnomAD v4 |
8 | g.133133545T>G | CA463017122 | TG | c.8073T>G (p.Arg2691=) c.3439T>G c.2472T>G (p.Arg824=) c.285T>G (p.Arg95=) n.159T>G c.4728T>G c.7881T>G (p.Arg2627=) c.8010T>G (p.Arg2670=) c.8007T>G (p.Arg2669=) c.7938T>G (p.Arg2646=) c.7902T>G (p.Arg2634=) c.7854T>G (p.Arg2618=) c.7812T>G (p.Arg2604=) | |
8 | g.133133546G>A | CA372253265 | TG | c.8074G>A (p.Ala2692Thr) c.3440G>A c.2473G>A (p.Ala825Thr) c.286G>A (p.Ala96Thr) n.160G>A c.4729G>A c.7882G>A (p.Ala2628Thr) c.8011G>A (p.Ala2671Thr) c.8008G>A (p.Ala2670Thr) c.7939G>A (p.Ala2647Thr) c.7903G>A (p.Ala2635Thr) c.7855G>A (p.Ala2619Thr) c.7813G>A (p.Ala2605Thr) | |
8 | g.133133546G>C | CA372253266 | TG | c.8074G>C (p.Ala2692Pro) c.3440G>C c.2473G>C (p.Ala825Pro) c.286G>C (p.Ala96Pro) n.160G>C c.4729G>C c.7882G>C (p.Ala2628Pro) c.8011G>C (p.Ala2671Pro) c.8008G>C (p.Ala2670Pro) c.7939G>C (p.Ala2647Pro) c.7903G>C (p.Ala2635Pro) c.7855G>C (p.Ala2619Pro) c.7813G>C (p.Ala2605Pro) | |
8 | g.133133546G>T | CA372253268 | TG | c.8074G>T (p.Ala2692Ser) c.3440G>T c.2473G>T (p.Ala825Ser) c.286G>T (p.Ala96Ser) n.160G>T c.4729G>T c.7882G>T (p.Ala2628Ser) c.8011G>T (p.Ala2671Ser) c.8008G>T (p.Ala2670Ser) c.7939G>T (p.Ala2647Ser) c.7903G>T (p.Ala2635Ser) c.7855G>T (p.Ala2619Ser) c.7813G>T (p.Ala2605Ser) | |
8 | g.133133547C>A | CA372253270 | TG | c.8075C>A (p.Ala2692Asp) c.3441C>A c.2474C>A (p.Ala825Asp) c.287C>A (p.Ala96Asp) n.161C>A c.4730C>A c.7883C>A (p.Ala2628Asp) c.8012C>A (p.Ala2671Asp) c.8009C>A (p.Ala2670Asp) c.7940C>A (p.Ala2647Asp) c.7904C>A (p.Ala2635Asp) c.7856C>A (p.Ala2619Asp) c.7814C>A (p.Ala2605Asp) | COSMIC |
8 | g.133133547C= | CA1821104923 | TG | c.8075C= (p.Ala2692=) c.3441C= c.2474C= (p.Ala825=) c.287C= (p.Ala96=) n.161C= c.4730C= c.7883C= (p.Ala2628=) c.8012C= (p.Ala2671=) c.8009C= (p.Ala2670=) c.7940C= (p.Ala2647=) c.7904C= (p.Ala2635=) c.7856C= (p.Ala2619=) c.7814C= (p.Ala2605=) | |
8 | g.133133547C>G | CA372253271 | TG | c.8075C>G (p.Ala2692Gly) c.3441C>G c.2474C>G (p.Ala825Gly) c.287C>G (p.Ala96Gly) n.161C>G c.4730C>G c.7883C>G (p.Ala2628Gly) c.8012C>G (p.Ala2671Gly) c.8009C>G (p.Ala2670Gly) c.7940C>G (p.Ala2647Gly) c.7904C>G (p.Ala2635Gly) c.7856C>G (p.Ala2619Gly) c.7814C>G (p.Ala2605Gly) | |
8 | g.133133547C>T | CA4885888 | TG | c.8075C>T (p.Ala2692Val) c.3441C>T c.2474C>T (p.Ala825Val) c.287C>T (p.Ala96Val) n.161C>T c.4730C>T c.7883C>T (p.Ala2628Val) c.8012C>T (p.Ala2671Val) c.8009C>T (p.Ala2670Val) c.7940C>T (p.Ala2647Val) c.7904C>T (p.Ala2635Val) c.7856C>T (p.Ala2619Val) c.7814C>T (p.Ala2605Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133548T>A | CA463017125 | TG | c.8076T>A (p.Ala2692=) c.3442T>A c.2475T>A (p.Ala825=) c.288T>A (p.Ala96=) n.162T>A c.4731T>A c.7884T>A (p.Ala2628=) c.8013T>A (p.Ala2671=) c.8010T>A (p.Ala2670=) c.7941T>A (p.Ala2647=) c.7905T>A (p.Ala2635=) c.7857T>A (p.Ala2619=) c.7815T>A (p.Ala2605=) | |
8 | g.133133548T>C | CA463017127 | TG | c.8076T>C (p.Ala2692=) c.3442T>C c.2475T>C (p.Ala825=) c.288T>C (p.Ala96=) n.162T>C c.4731T>C c.7884T>C (p.Ala2628=) c.8013T>C (p.Ala2671=) c.8010T>C (p.Ala2670=) c.7941T>C (p.Ala2647=) c.7905T>C (p.Ala2635=) c.7857T>C (p.Ala2619=) c.7815T>C (p.Ala2605=) | dbSNP |
8 | g.133133548T>G | CA463017128 | TG | c.8076T>G (p.Ala2692=) c.3442T>G c.2475T>G (p.Ala825=) c.288T>G (p.Ala96=) n.162T>G c.4731T>G c.7884T>G (p.Ala2628=) c.8013T>G (p.Ala2671=) c.8010T>G (p.Ala2670=) c.7941T>G (p.Ala2647=) c.7905T>G (p.Ala2635=) c.7857T>G (p.Ala2619=) c.7815T>G (p.Ala2605=) | |
8 | g.133133548T= | CA1821104924 | TG | c.8076T= (p.Ala2692=) c.3442T= c.2475T= (p.Ala825=) c.288T= (p.Ala96=) n.162T= c.4731T= c.7884T= (p.Ala2628=) c.8013T= (p.Ala2671=) c.8010T= (p.Ala2670=) c.7941T= (p.Ala2647=) c.7905T= (p.Ala2635=) c.7857T= (p.Ala2619=) c.7815T= (p.Ala2605=) | |
8 | g.133133549G>A | CA372253274 | TG | c.8077G>A (p.Gly2693Ser) c.3443G>A c.2476G>A (p.Gly826Ser) c.289G>A (p.Gly97Ser) n.163G>A c.4732G>A c.7885G>A (p.Gly2629Ser) c.8014G>A (p.Gly2672Ser) c.8011G>A (p.Gly2671Ser) c.7942G>A (p.Gly2648Ser) c.7906G>A (p.Gly2636Ser) c.7858G>A (p.Gly2620Ser) c.7816G>A (p.Gly2606Ser) | |
8 | g.133133549G>C | CA186356709 | TG | c.8077G>C (p.Gly2693Arg) c.3443G>C c.2476G>C (p.Gly826Arg) c.289G>C (p.Gly97Arg) n.163G>C c.4732G>C c.7885G>C (p.Gly2629Arg) c.8014G>C (p.Gly2672Arg) c.8011G>C (p.Gly2671Arg) c.7942G>C (p.Gly2648Arg) c.7906G>C (p.Gly2636Arg) c.7858G>C (p.Gly2620Arg) c.7816G>C (p.Gly2606Arg) | dbSNP |
8 | g.133133549G= | CA1821104925 | TG | c.8077G= (p.Gly2693=) c.3443G= c.2476G= (p.Gly826=) c.289G= (p.Gly97=) n.163G= c.4732G= c.7885G= (p.Gly2629=) c.8014G= (p.Gly2672=) c.8011G= (p.Gly2671=) c.7942G= (p.Gly2648=) c.7906G= (p.Gly2636=) c.7858G= (p.Gly2620=) c.7816G= (p.Gly2606=) | |
8 | g.133133549G>T | CA372253277 | TG | c.8077G>T (p.Gly2693Cys) c.3443G>T c.2476G>T (p.Gly826Cys) c.289G>T (p.Gly97Cys) n.163G>T c.4732G>T c.7885G>T (p.Gly2629Cys) c.8014G>T (p.Gly2672Cys) c.8011G>T (p.Gly2671Cys) c.7942G>T (p.Gly2648Cys) c.7906G>T (p.Gly2636Cys) c.7858G>T (p.Gly2620Cys) c.7816G>T (p.Gly2606Cys) | |
8 | g.133133550G>A | CA372253281 | TG | c.8078G>A (p.Gly2693Asp) c.3444G>A c.2477G>A (p.Gly826Asp) c.290G>A (p.Gly97Asp) n.164G>A c.4733G>A c.7886G>A (p.Gly2629Asp) c.8015G>A (p.Gly2672Asp) c.8012G>A (p.Gly2671Asp) c.7943G>A (p.Gly2648Asp) c.7907G>A (p.Gly2636Asp) c.7859G>A (p.Gly2620Asp) c.7817G>A (p.Gly2606Asp) | gnomAD v4 |
8 | g.133133550G>C | CA372253282 | TG | c.8078G>C (p.Gly2693Ala) c.3444G>C c.2477G>C (p.Gly826Ala) c.290G>C (p.Gly97Ala) n.164G>C c.4733G>C c.7886G>C (p.Gly2629Ala) c.8015G>C (p.Gly2672Ala) c.8012G>C (p.Gly2671Ala) c.7943G>C (p.Gly2648Ala) c.7907G>C (p.Gly2636Ala) c.7859G>C (p.Gly2620Ala) c.7817G>C (p.Gly2606Ala) | |
8 | g.133133550G>T | CA372253279 | TG | c.8078G>T (p.Gly2693Val) c.3444G>T c.2477G>T (p.Gly826Val) c.290G>T (p.Gly97Val) n.164G>T c.4733G>T c.7886G>T (p.Gly2629Val) c.8015G>T (p.Gly2672Val) c.8012G>T (p.Gly2671Val) c.7943G>T (p.Gly2648Val) c.7907G>T (p.Gly2636Val) c.7859G>T (p.Gly2620Val) c.7817G>T (p.Gly2606Val) | |
8 | g.133133551T>A | CA463017132 | TG | c.8079T>A (p.Gly2693=) c.3445T>A c.2478T>A (p.Gly826=) c.291T>A (p.Gly97=) n.165T>A c.4734T>A c.7887T>A (p.Gly2629=) c.8016T>A (p.Gly2672=) c.8013T>A (p.Gly2671=) c.7944T>A (p.Gly2648=) c.7908T>A (p.Gly2636=) c.7860T>A (p.Gly2620=) c.7818T>A (p.Gly2606=) | |
8 | g.133133551T>C | CA463017135 | TG | c.8079T>C (p.Gly2693=) c.3445T>C c.2478T>C (p.Gly826=) c.291T>C (p.Gly97=) n.165T>C c.4734T>C c.7887T>C (p.Gly2629=) c.8016T>C (p.Gly2672=) c.8013T>C (p.Gly2671=) c.7944T>C (p.Gly2648=) c.7908T>C (p.Gly2636=) c.7860T>C (p.Gly2620=) c.7818T>C (p.Gly2606=) | |
8 | g.133133551T>G | CA463017134 | TG | c.8079T>G (p.Gly2693=) c.3445T>G c.2478T>G (p.Gly826=) c.291T>G (p.Gly97=) n.165T>G c.4734T>G c.7887T>G (p.Gly2629=) c.8016T>G (p.Gly2672=) c.8013T>G (p.Gly2671=) c.7944T>G (p.Gly2648=) c.7908T>G (p.Gly2636=) c.7860T>G (p.Gly2620=) c.7818T>G (p.Gly2606=) | |
8 | g.133133552G>A | CA4885889 | TG | c.8080G>A (p.Gly2694Arg) c.3446G>A c.2479G>A (p.Gly827Arg) c.292G>A (p.Gly98Arg) n.166G>A c.4735G>A c.7888G>A (p.Gly2630Arg) c.8017G>A (p.Gly2673Arg) c.8014G>A (p.Gly2672Arg) c.7945G>A (p.Gly2649Arg) c.7909G>A (p.Gly2637Arg) c.7861G>A (p.Gly2621Arg) c.7819G>A (p.Gly2607Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133552G>C | CA372253285 | TG | c.8080G>C (p.Gly2694Arg) c.3446G>C c.2479G>C (p.Gly827Arg) c.292G>C (p.Gly98Arg) n.166G>C c.4735G>C c.7888G>C (p.Gly2630Arg) c.8017G>C (p.Gly2673Arg) c.8014G>C (p.Gly2672Arg) c.7945G>C (p.Gly2649Arg) c.7909G>C (p.Gly2637Arg) c.7861G>C (p.Gly2621Arg) c.7819G>C (p.Gly2607Arg) | gnomAD v4 |
8 | g.133133552G= | CA1821104926 | TG | c.8080G= (p.Gly2694=) c.3446G= c.2479G= (p.Gly827=) c.292G= (p.Gly98=) n.166G= c.4735G= c.7888G= (p.Gly2630=) c.8017G= (p.Gly2673=) c.8014G= (p.Gly2672=) c.7945G= (p.Gly2649=) c.7909G= (p.Gly2637=) c.7861G= (p.Gly2621=) c.7819G= (p.Gly2607=) | |
8 | g.133133552G>T | CA372253287 | TG | c.8080G>T (p.Gly2694Ter) c.3446G>T c.2479G>T (p.Gly827Ter) c.292G>T (p.Gly98Ter) n.166G>T c.4735G>T c.7888G>T (p.Gly2630Ter) c.8017G>T (p.Gly2673Ter) c.8014G>T (p.Gly2672Ter) c.7945G>T (p.Gly2649Ter) c.7909G>T (p.Gly2637Ter) c.7861G>T (p.Gly2621Ter) c.7819G>T (p.Gly2607Ter) | |
8 | g.133133553G>A | CA372253289 | TG | c.8081G>A (p.Gly2694Glu) c.3447G>A c.2480G>A (p.Gly827Glu) c.293G>A (p.Gly98Glu) n.167G>A c.4736G>A c.7889G>A (p.Gly2630Glu) c.8018G>A (p.Gly2673Glu) c.8015G>A (p.Gly2672Glu) c.7946G>A (p.Gly2649Glu) c.7910G>A (p.Gly2637Glu) c.7862G>A (p.Gly2621Glu) c.7820G>A (p.Gly2607Glu) | |
8 | g.133133553G>C | CA372253291 | TG | c.8081G>C (p.Gly2694Ala) c.3447G>C c.2480G>C (p.Gly827Ala) c.293G>C (p.Gly98Ala) n.167G>C c.4736G>C c.7889G>C (p.Gly2630Ala) c.8018G>C (p.Gly2673Ala) c.8015G>C (p.Gly2672Ala) c.7946G>C (p.Gly2649Ala) c.7910G>C (p.Gly2637Ala) c.7862G>C (p.Gly2621Ala) c.7820G>C (p.Gly2607Ala) | |
8 | g.133133553G>T | CA372253293 | TG | c.8081G>T (p.Gly2694Val) c.3447G>T c.2480G>T (p.Gly827Val) c.293G>T (p.Gly98Val) n.167G>T c.4736G>T c.7889G>T (p.Gly2630Val) c.8018G>T (p.Gly2673Val) c.8015G>T (p.Gly2672Val) c.7946G>T (p.Gly2649Val) c.7910G>T (p.Gly2637Val) c.7862G>T (p.Gly2621Val) c.7820G>T (p.Gly2607Val) | |
8 | g.133133554A>C | CA463017140 | TG | c.8082A>C (p.Gly2694=) c.3448A>C c.2481A>C (p.Gly827=) c.294A>C (p.Gly98=) n.168A>C c.4737A>C c.7890A>C (p.Gly2630=) c.8019A>C (p.Gly2673=) c.8016A>C (p.Gly2672=) c.7947A>C (p.Gly2649=) c.7911A>C (p.Gly2637=) c.7863A>C (p.Gly2621=) c.7821A>C (p.Gly2607=) | |
8 | g.133133554A>G | CA463017138 | TG | c.8082A>G (p.Gly2694=) c.3448A>G c.2481A>G (p.Gly827=) c.294A>G (p.Gly98=) n.168A>G c.4737A>G c.7890A>G (p.Gly2630=) c.8019A>G (p.Gly2673=) c.8016A>G (p.Gly2672=) c.7947A>G (p.Gly2649=) c.7911A>G (p.Gly2637=) c.7863A>G (p.Gly2621=) c.7821A>G (p.Gly2607=) | |
8 | g.133133554A>T | CA463017136 | TG | c.8082A>T (p.Gly2694=) c.3448A>T c.2481A>T (p.Gly827=) c.294A>T (p.Gly98=) n.168A>T c.4737A>T c.7890A>T (p.Gly2630=) c.8019A>T (p.Gly2673=) c.8016A>T (p.Gly2672=) c.7947A>T (p.Gly2649=) c.7911A>T (p.Gly2637=) c.7863A>T (p.Gly2621=) c.7821A>T (p.Gly2607=) | |
8 | g.133133555G>A | CA186356725 | TG | c.8083G>A (p.Glu2695Lys) c.3449G>A c.2482G>A (p.Glu828Lys) c.295G>A (p.Glu99Lys) n.169G>A c.4738G>A c.7891G>A (p.Glu2631Lys) c.8020G>A (p.Glu2674Lys) c.8017G>A (p.Glu2673Lys) c.7948G>A (p.Glu2650Lys) c.7912G>A (p.Glu2638Lys) c.7864G>A (p.Glu2622Lys) c.7822G>A (p.Glu2608Lys) | dbSNP gnomAD v4 |
8 | g.133133555G>C | CA372253295 | TG | c.8083G>C (p.Glu2695Gln) c.3449G>C c.2482G>C (p.Glu828Gln) c.295G>C (p.Glu99Gln) n.169G>C c.4738G>C c.7891G>C (p.Glu2631Gln) c.8020G>C (p.Glu2674Gln) c.8017G>C (p.Glu2673Gln) c.7948G>C (p.Glu2650Gln) c.7912G>C (p.Glu2638Gln) c.7864G>C (p.Glu2622Gln) c.7822G>C (p.Glu2608Gln) | |
8 | g.133133555G= | CA1821104927 | TG | c.8083G= (p.Glu2695=) c.3449G= c.2482G= (p.Glu828=) c.295G= (p.Glu99=) n.169G= c.4738G= c.7891G= (p.Glu2631=) c.8020G= (p.Glu2674=) c.8017G= (p.Glu2673=) c.7948G= (p.Glu2650=) c.7912G= (p.Glu2638=) c.7864G= (p.Glu2622=) c.7822G= (p.Glu2608=) | |
8 | g.133133555G>T | CA372253296 | TG | c.8083G>T (p.Glu2695Ter) c.3449G>T c.2482G>T (p.Glu828Ter) c.295G>T (p.Glu99Ter) n.169G>T c.4738G>T c.7891G>T (p.Glu2631Ter) c.8020G>T (p.Glu2674Ter) c.8017G>T (p.Glu2673Ter) c.7948G>T (p.Glu2650Ter) c.7912G>T (p.Glu2638Ter) c.7864G>T (p.Glu2622Ter) c.7822G>T (p.Glu2608Ter) | |
8 | g.133133556A= | CA1821104928 | TG | c.8084A= (p.Glu2695=) c.3450A= c.2483A= (p.Glu828=) c.296A= (p.Glu99=) n.170A= c.4739A= c.7892A= (p.Glu2631=) c.8021A= (p.Glu2674=) c.8018A= (p.Glu2673=) c.7949A= (p.Glu2650=) c.7913A= (p.Glu2638=) c.7865A= (p.Glu2622=) c.7823A= (p.Glu2608=) | |
8 | g.133133556A>C | CA372253300 | TG | c.8084A>C (p.Glu2695Ala) c.3450A>C c.2483A>C (p.Glu828Ala) c.296A>C (p.Glu99Ala) n.170A>C c.4739A>C c.7892A>C (p.Glu2631Ala) c.8021A>C (p.Glu2674Ala) c.8018A>C (p.Glu2673Ala) c.7949A>C (p.Glu2650Ala) c.7913A>C (p.Glu2638Ala) c.7865A>C (p.Glu2622Ala) c.7823A>C (p.Glu2608Ala) | |
8 | g.133133556A>G | CA372253301 | TG | c.8084A>G (p.Glu2695Gly) c.3450A>G c.2483A>G (p.Glu828Gly) c.296A>G (p.Glu99Gly) n.170A>G c.4739A>G c.7892A>G (p.Glu2631Gly) c.8021A>G (p.Glu2674Gly) c.8018A>G (p.Glu2673Gly) c.7949A>G (p.Glu2650Gly) c.7913A>G (p.Glu2638Gly) c.7865A>G (p.Glu2622Gly) c.7823A>G (p.Glu2608Gly) | |
8 | g.133133556A>T | CA4885890 | TG | c.8084A>T (p.Glu2695Val) c.3450A>T c.2483A>T (p.Glu828Val) c.296A>T (p.Glu99Val) n.170A>T c.4739A>T c.7892A>T (p.Glu2631Val) c.8021A>T (p.Glu2674Val) c.8018A>T (p.Glu2673Val) c.7949A>T (p.Glu2650Val) c.7913A>T (p.Glu2638Val) c.7865A>T (p.Glu2622Val) c.7823A>T (p.Glu2608Val) | dbSNP ExAC gnomAD v2 |
8 | g.133133557G>A | CA463017142 | TG | c.8085G>A (p.Glu2695=) c.3451G>A c.2484G>A (p.Glu828=) c.297G>A (p.Glu99=) n.171G>A c.4740G>A c.7893G>A (p.Glu2631=) c.8022G>A (p.Glu2674=) c.8019G>A (p.Glu2673=) c.7950G>A (p.Glu2650=) c.7914G>A (p.Glu2638=) c.7866G>A (p.Glu2622=) c.7824G>A (p.Glu2608=) | |
8 | g.133133557G>C | CA4885891 | TG | c.8085G>C (p.Glu2695Asp) c.3451G>C c.2484G>C (p.Glu828Asp) c.297G>C (p.Glu99Asp) n.171G>C c.4740G>C c.7893G>C (p.Glu2631Asp) c.8022G>C (p.Glu2674Asp) c.8019G>C (p.Glu2673Asp) c.7950G>C (p.Glu2650Asp) c.7914G>C (p.Glu2638Asp) c.7866G>C (p.Glu2622Asp) c.7824G>C (p.Glu2608Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.133133557G= | CA1821104929 | TG | c.8085G= (p.Glu2695=) c.3451G= c.2484G= (p.Glu828=) c.297G= (p.Glu99=) n.171G= c.4740G= c.7893G= (p.Glu2631=) c.8022G= (p.Glu2674=) c.8019G= (p.Glu2673=) c.7950G= (p.Glu2650=) c.7914G= (p.Glu2638=) c.7866G= (p.Glu2622=) c.7824G= (p.Glu2608=) | |
8 | g.133133557G>T | CA372253305 | TG | c.8085G>T (p.Glu2695Asp) c.3451G>T c.2484G>T (p.Glu828Asp) c.297G>T (p.Glu99Asp) n.171G>T c.4740G>T c.7893G>T (p.Glu2631Asp) c.8022G>T (p.Glu2674Asp) c.8019G>T (p.Glu2673Asp) c.7950G>T (p.Glu2650Asp) c.7914G>T (p.Glu2638Asp) c.7866G>T (p.Glu2622Asp) c.7824G>T (p.Glu2608Asp) | |
8 | g.133133558A= | CA1821104930 | TG | c.8086A= (p.Asn2696=) c.3452A= c.2485A= (p.Asn829=) c.298A= (p.Asn100=) n.172A= c.4741A= c.7894A= (p.Asn2632=) c.8023A= (p.Asn2675=) c.8020A= (p.Asn2674=) c.7951A= (p.Asn2651=) c.7915A= (p.Asn2639=) c.7867A= (p.Asn2623=) c.7825A= (p.Asn2609=) | |
8 | g.133133558A>C | CA372253308 | TG | c.8086A>C (p.Asn2696His) c.3452A>C c.2485A>C (p.Asn829His) c.298A>C (p.Asn100His) n.172A>C c.4741A>C c.7894A>C (p.Asn2632His) c.8023A>C (p.Asn2675His) c.8020A>C (p.Asn2674His) c.7951A>C (p.Asn2651His) c.7915A>C (p.Asn2639His) c.7867A>C (p.Asn2623His) c.7825A>C (p.Asn2609His) | |
8 | g.133133558A>G | CA372253307 | TG | c.8086A>G (p.Asn2696Asp) c.3452A>G c.2485A>G (p.Asn829Asp) c.298A>G (p.Asn100Asp) n.172A>G c.4741A>G c.7894A>G (p.Asn2632Asp) c.8023A>G (p.Asn2675Asp) c.8020A>G (p.Asn2674Asp) c.7951A>G (p.Asn2651Asp) c.7915A>G (p.Asn2639Asp) c.7867A>G (p.Asn2623Asp) c.7825A>G (p.Asn2609Asp) | dbSNP gnomAD v4 |
8 | g.133133558A>T | CA372253306 | TG | c.8086A>T (p.Asn2696Tyr) c.3452A>T c.2485A>T (p.Asn829Tyr) c.298A>T (p.Asn100Tyr) n.172A>T c.4741A>T c.7894A>T (p.Asn2632Tyr) c.8023A>T (p.Asn2675Tyr) c.8020A>T (p.Asn2674Tyr) c.7951A>T (p.Asn2651Tyr) c.7915A>T (p.Asn2639Tyr) c.7867A>T (p.Asn2623Tyr) c.7825A>T (p.Asn2609Tyr) | |
8 | g.133133559A= | CA1821104931 | TG | c.8087A= (p.Asn2696=) c.3453A= c.2486A= (p.Asn829=) c.299A= (p.Asn100=) n.173A= c.4742A= c.7895A= (p.Asn2632=) c.8024A= (p.Asn2675=) c.8021A= (p.Asn2674=) c.7952A= (p.Asn2651=) c.7916A= (p.Asn2639=) c.7868A= (p.Asn2623=) c.7826A= (p.Asn2609=) | |
8 | g.133133559A>C | CA372253311 | TG | c.8087A>C (p.Asn2696Thr) c.3453A>C c.2486A>C (p.Asn829Thr) c.299A>C (p.Asn100Thr) n.173A>C c.4742A>C c.7895A>C (p.Asn2632Thr) c.8024A>C (p.Asn2675Thr) c.8021A>C (p.Asn2674Thr) c.7952A>C (p.Asn2651Thr) c.7916A>C (p.Asn2639Thr) c.7868A>C (p.Asn2623Thr) c.7826A>C (p.Asn2609Thr) | gnomAD v4 |
8 | g.133133559A>G | CA372253313 | TG | c.8087A>G (p.Asn2696Ser) c.3453A>G c.2486A>G (p.Asn829Ser) c.299A>G (p.Asn100Ser) n.173A>G c.4742A>G c.7895A>G (p.Asn2632Ser) c.8024A>G (p.Asn2675Ser) c.8021A>G (p.Asn2674Ser) c.7952A>G (p.Asn2651Ser) c.7916A>G (p.Asn2639Ser) c.7868A>G (p.Asn2623Ser) c.7826A>G (p.Asn2609Ser) | dbSNP |
8 | g.133133559A>T | CA4885892 | TG | c.8087A>T (p.Asn2696Ile) c.3453A>T c.2486A>T (p.Asn829Ile) c.299A>T (p.Asn100Ile) n.173A>T c.4742A>T c.7895A>T (p.Asn2632Ile) c.8024A>T (p.Asn2675Ile) c.8021A>T (p.Asn2674Ile) c.7952A>T (p.Asn2651Ile) c.7916A>T (p.Asn2639Ile) c.7868A>T (p.Asn2623Ile) c.7826A>T (p.Asn2609Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133560C>A | CA372253316 | TG | c.8088C>A (p.Asn2696Lys) c.3454C>A c.2487C>A (p.Asn829Lys) c.300C>A (p.Asn100Lys) n.174C>A c.4743C>A c.7896C>A (p.Asn2632Lys) c.8025C>A (p.Asn2675Lys) c.8022C>A (p.Asn2674Lys) c.7953C>A (p.Asn2651Lys) c.7917C>A (p.Asn2639Lys) c.7869C>A (p.Asn2623Lys) c.7827C>A (p.Asn2609Lys) | |
8 | g.133133560C>G | CA372253318 | TG | c.8088C>G (p.Asn2696Lys) c.3454C>G c.2487C>G (p.Asn829Lys) c.300C>G (p.Asn100Lys) n.174C>G c.4743C>G c.7896C>G (p.Asn2632Lys) c.8025C>G (p.Asn2675Lys) c.8022C>G (p.Asn2674Lys) c.7953C>G (p.Asn2651Lys) c.7917C>G (p.Asn2639Lys) c.7869C>G (p.Asn2623Lys) c.7827C>G (p.Asn2609Lys) | |
8 | g.133133560C>T | CA463017146 | TG | c.8088C>T (p.Asn2696=) c.3454C>T c.2487C>T (p.Asn829=) c.300C>T (p.Asn100=) n.174C>T c.4743C>T c.7896C>T (p.Asn2632=) c.8025C>T (p.Asn2675=) c.8022C>T (p.Asn2674=) c.7953C>T (p.Asn2651=) c.7917C>T (p.Asn2639=) c.7869C>T (p.Asn2623=) c.7827C>T (p.Asn2609=) | ClinVar gnomAD v4 |
8 | g.133133561T>A | CA372253321 | TG | c.8089T>A (p.Tyr2697Asn) c.3455T>A c.2488T>A (p.Tyr830Asn) c.301T>A (p.Tyr101Asn) n.175T>A c.4744T>A c.7897T>A (p.Tyr2633Asn) c.8026T>A (p.Tyr2676Asn) c.8023T>A (p.Tyr2675Asn) c.7954T>A (p.Tyr2652Asn) c.7918T>A (p.Tyr2640Asn) c.7870T>A (p.Tyr2624Asn) c.7828T>A (p.Tyr2610Asn) | dbSNP |
8 | g.133133561T>C | CA372253322 | TG | c.8089T>C (p.Tyr2697His) c.3455T>C c.2488T>C (p.Tyr830His) c.301T>C (p.Tyr101His) n.175T>C c.4744T>C c.7897T>C (p.Tyr2633His) c.8026T>C (p.Tyr2676His) c.8023T>C (p.Tyr2675His) c.7954T>C (p.Tyr2652His) c.7918T>C (p.Tyr2640His) c.7870T>C (p.Tyr2624His) c.7828T>C (p.Tyr2610His) | gnomAD v4 |
8 | g.133133561T>G | CA372253324 | TG | c.8089T>G (p.Tyr2697Asp) c.3455T>G c.2488T>G (p.Tyr830Asp) c.301T>G (p.Tyr101Asp) n.175T>G c.4744T>G c.7897T>G (p.Tyr2633Asp) c.8026T>G (p.Tyr2676Asp) c.8023T>G (p.Tyr2675Asp) c.7954T>G (p.Tyr2652Asp) c.7918T>G (p.Tyr2640Asp) c.7870T>G (p.Tyr2624Asp) c.7828T>G (p.Tyr2610Asp) | |
8 | g.133133561T= | CA1821104932 | TG | c.8089T= (p.Tyr2697=) c.3455T= c.2488T= (p.Tyr830=) c.301T= (p.Tyr101=) n.175T= c.4744T= c.7897T= (p.Tyr2633=) c.8026T= (p.Tyr2676=) c.8023T= (p.Tyr2675=) c.7954T= (p.Tyr2652=) c.7918T= (p.Tyr2640=) c.7870T= (p.Tyr2624=) c.7828T= (p.Tyr2610=) | |
8 | g.133133562A= | CA1821104933 | TG | c.8090A= (p.Tyr2697=) c.3456A= c.2489A= (p.Tyr830=) c.302A= (p.Tyr101=) n.176A= c.4745A= c.7898A= (p.Tyr2633=) c.8027A= (p.Tyr2676=) c.8024A= (p.Tyr2675=) c.7955A= (p.Tyr2652=) c.7919A= (p.Tyr2640=) c.7871A= (p.Tyr2624=) c.7829A= (p.Tyr2610=) | |
8 | g.133133562A>C | CA372253326 | TG | c.8090A>C (p.Tyr2697Ser) c.3456A>C c.2489A>C (p.Tyr830Ser) c.302A>C (p.Tyr101Ser) n.176A>C c.4745A>C c.7898A>C (p.Tyr2633Ser) c.8027A>C (p.Tyr2676Ser) c.8024A>C (p.Tyr2675Ser) c.7955A>C (p.Tyr2652Ser) c.7919A>C (p.Tyr2640Ser) c.7871A>C (p.Tyr2624Ser) c.7829A>C (p.Tyr2610Ser) | |
8 | g.133133562A>G | CA372253328 | TG | c.8090A>G (p.Tyr2697Cys) c.3456A>G c.2489A>G (p.Tyr830Cys) c.302A>G (p.Tyr101Cys) n.176A>G c.4745A>G c.7898A>G (p.Tyr2633Cys) c.8027A>G (p.Tyr2676Cys) c.8024A>G (p.Tyr2675Cys) c.7955A>G (p.Tyr2652Cys) c.7919A>G (p.Tyr2640Cys) c.7871A>G (p.Tyr2624Cys) c.7829A>G (p.Tyr2610Cys) | dbSNP |
8 | g.133133562A>T | CA372253329 | TG | c.8090A>T (p.Tyr2697Phe) c.3456A>T c.2489A>T (p.Tyr830Phe) c.302A>T (p.Tyr101Phe) n.176A>T c.4745A>T c.7898A>T (p.Tyr2633Phe) c.8027A>T (p.Tyr2676Phe) c.8024A>T (p.Tyr2675Phe) c.7955A>T (p.Tyr2652Phe) c.7919A>T (p.Tyr2640Phe) c.7871A>T (p.Tyr2624Phe) c.7829A>T (p.Tyr2610Phe) | |
8 | g.133133563C>A | CA372253331 | TG | c.8091C>A (p.Tyr2697Ter) c.3457C>A c.2490C>A (p.Tyr830Ter) c.303C>A (p.Tyr101Ter) n.177C>A c.4746C>A c.7899C>A (p.Tyr2633Ter) c.8028C>A (p.Tyr2676Ter) c.8025C>A (p.Tyr2675Ter) c.7956C>A (p.Tyr2652Ter) c.7920C>A (p.Tyr2640Ter) c.7872C>A (p.Tyr2624Ter) c.7830C>A (p.Tyr2610Ter) | |
8 | g.133133563C= | CA1821104934 | TG | c.8091C= (p.Tyr2697=) c.3457C= c.2490C= (p.Tyr830=) c.303C= (p.Tyr101=) n.177C= c.4746C= c.7899C= (p.Tyr2633=) c.8028C= (p.Tyr2676=) c.8025C= (p.Tyr2675=) c.7956C= (p.Tyr2652=) c.7920C= (p.Tyr2640=) c.7872C= (p.Tyr2624=) c.7830C= (p.Tyr2610=) | |
8 | g.133133563C>G | CA186356742 | TG | c.8091C>G (p.Tyr2697Ter) c.3457C>G c.2490C>G (p.Tyr830Ter) c.303C>G (p.Tyr101Ter) n.177C>G c.4746C>G c.7899C>G (p.Tyr2633Ter) c.8028C>G (p.Tyr2676Ter) c.8025C>G (p.Tyr2675Ter) c.7956C>G (p.Tyr2652Ter) c.7920C>G (p.Tyr2640Ter) c.7872C>G (p.Tyr2624Ter) c.7830C>G (p.Tyr2610Ter) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133563C>T | CA463017152 | TG | c.8091C>T (p.Tyr2697=) c.3457C>T c.2490C>T (p.Tyr830=) c.303C>T (p.Tyr101=) n.177C>T c.4746C>T c.7899C>T (p.Tyr2633=) c.8028C>T (p.Tyr2676=) c.8025C>T (p.Tyr2675=) c.7956C>T (p.Tyr2652=) c.7920C>T (p.Tyr2640=) c.7872C>T (p.Tyr2624=) c.7830C>T (p.Tyr2610=) | |
8 | g.133133564A>C | CA372253334 | TG | c.8092A>C (p.Lys2698Gln) c.3458A>C c.2491A>C (p.Lys831Gln) c.304A>C (p.Lys102Gln) n.178A>C c.4747A>C c.7900A>C (p.Lys2634Gln) c.8029A>C (p.Lys2677Gln) c.8026A>C (p.Lys2676Gln) c.7957A>C (p.Lys2653Gln) c.7921A>C (p.Lys2641Gln) c.7873A>C (p.Lys2625Gln) c.7831A>C (p.Lys2611Gln) | |
8 | g.133133564A>G | CA372253343 | TG | c.8092A>G (p.Lys2698Glu) c.3458A>G c.2491A>G (p.Lys831Glu) c.304A>G (p.Lys102Glu) n.178A>G c.4747A>G c.7900A>G (p.Lys2634Glu) c.8029A>G (p.Lys2677Glu) c.8026A>G (p.Lys2676Glu) c.7957A>G (p.Lys2653Glu) c.7921A>G (p.Lys2641Glu) c.7873A>G (p.Lys2625Glu) c.7831A>G (p.Lys2611Glu) | |
8 | g.133133564A>T | CA372253345 | TG | c.8092A>T (p.Lys2698Ter) c.3458A>T c.2491A>T (p.Lys831Ter) c.304A>T (p.Lys102Ter) n.178A>T c.4747A>T c.7900A>T (p.Lys2634Ter) c.8029A>T (p.Lys2677Ter) c.8026A>T (p.Lys2676Ter) c.7957A>T (p.Lys2653Ter) c.7921A>T (p.Lys2641Ter) c.7873A>T (p.Lys2625Ter) c.7831A>T (p.Lys2611Ter) | |
8 | g.133133565A= | CA1821104935 | TG | c.8093A= (p.Lys2698=) c.3459A= c.2492A= (p.Lys831=) c.305A= (p.Lys102=) n.179A= c.4748A= c.7901A= (p.Lys2634=) c.8030A= (p.Lys2677=) c.8027A= (p.Lys2676=) c.7958A= (p.Lys2653=) c.7922A= (p.Lys2641=) c.7874A= (p.Lys2625=) c.7832A= (p.Lys2611=) | |
8 | g.133133565A>C | CA372253350 | TG | c.8093A>C (p.Lys2698Thr) c.3459A>C c.2492A>C (p.Lys831Thr) c.305A>C (p.Lys102Thr) n.179A>C c.4748A>C c.7901A>C (p.Lys2634Thr) c.8030A>C (p.Lys2677Thr) c.8027A>C (p.Lys2676Thr) c.7958A>C (p.Lys2653Thr) c.7922A>C (p.Lys2641Thr) c.7874A>C (p.Lys2625Thr) c.7832A>C (p.Lys2611Thr) | |
8 | g.133133565A>G | CA4885893 | TG | c.8093A>G (p.Lys2698Arg) c.3459A>G c.2492A>G (p.Lys831Arg) c.305A>G (p.Lys102Arg) n.179A>G c.4748A>G c.7901A>G (p.Lys2634Arg) c.8030A>G (p.Lys2677Arg) c.8027A>G (p.Lys2676Arg) c.7958A>G (p.Lys2653Arg) c.7922A>G (p.Lys2641Arg) c.7874A>G (p.Lys2625Arg) c.7832A>G (p.Lys2611Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133565A>T | CA372253348 | TG | c.8093A>T (p.Lys2698Met) c.3459A>T c.2492A>T (p.Lys831Met) c.305A>T (p.Lys102Met) n.179A>T c.4748A>T c.7901A>T (p.Lys2634Met) c.8030A>T (p.Lys2677Met) c.8027A>T (p.Lys2676Met) c.7958A>T (p.Lys2653Met) c.7922A>T (p.Lys2641Met) c.7874A>T (p.Lys2625Met) c.7832A>T (p.Lys2611Met) | |
8 | g.133133566G>A | CA463017156 | TG | c.8094G>A (p.Lys2698=) c.3460G>A c.2493G>A (p.Lys831=) c.306G>A (p.Lys102=) n.180G>A c.4749G>A c.7902G>A (p.Lys2634=) c.8031G>A (p.Lys2677=) c.8028G>A (p.Lys2676=) c.7959G>A (p.Lys2653=) c.7923G>A (p.Lys2641=) c.7875G>A (p.Lys2625=) c.7833G>A (p.Lys2611=) | gnomAD v4 |
8 | g.133133566G>C | CA372253353 | TG | c.8094G>C (p.Lys2698Asn) c.3460G>C c.2493G>C (p.Lys831Asn) c.306G>C (p.Lys102Asn) n.180G>C c.4749G>C c.7902G>C (p.Lys2634Asn) c.8031G>C (p.Lys2677Asn) c.8028G>C (p.Lys2676Asn) c.7959G>C (p.Lys2653Asn) c.7923G>C (p.Lys2641Asn) c.7875G>C (p.Lys2625Asn) c.7833G>C (p.Lys2611Asn) | COSMIC |
8 | g.133133566G= | CA1821104936 | TG | c.8094G= (p.Lys2698=) c.3460G= c.2493G= (p.Lys831=) c.306G= (p.Lys102=) n.180G= c.4749G= c.7902G= (p.Lys2634=) c.8031G= (p.Lys2677=) c.8028G= (p.Lys2676=) c.7959G= (p.Lys2653=) c.7923G= (p.Lys2641=) c.7875G= (p.Lys2625=) c.7833G= (p.Lys2611=) | |
8 | g.133133566G>T | CA372253354 | TG | c.8094G>T (p.Lys2698Asn) c.3460G>T c.2493G>T (p.Lys831Asn) c.306G>T (p.Lys102Asn) n.180G>T c.4749G>T c.7902G>T (p.Lys2634Asn) c.8031G>T (p.Lys2677Asn) c.8028G>T (p.Lys2676Asn) c.7959G>T (p.Lys2653Asn) c.7923G>T (p.Lys2641Asn) c.7875G>T (p.Lys2625Asn) c.7833G>T (p.Lys2611Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133567G>A | CA372253356 | TG | c.8095G>A (p.Glu2699Lys) c.3461G>A c.2494G>A (p.Glu832Lys) c.307G>A (p.Glu103Lys) n.181G>A c.4750G>A c.7903G>A (p.Glu2635Lys) c.8032G>A (p.Glu2678Lys) c.8029G>A (p.Glu2677Lys) c.7960G>A (p.Glu2654Lys) c.7924G>A (p.Glu2642Lys) c.7876G>A (p.Glu2626Lys) c.7834G>A (p.Glu2612Lys) | ClinVar COSMIC |
8 | g.133133567G>C | CA372253358 | TG | c.8095G>C (p.Glu2699Gln) c.3461G>C c.2494G>C (p.Glu832Gln) c.307G>C (p.Glu103Gln) n.181G>C c.4750G>C c.7903G>C (p.Glu2635Gln) c.8032G>C (p.Glu2678Gln) c.8029G>C (p.Glu2677Gln) c.7960G>C (p.Glu2654Gln) c.7924G>C (p.Glu2642Gln) c.7876G>C (p.Glu2626Gln) c.7834G>C (p.Glu2612Gln) | |
8 | g.133133567G>T | CA372253359 | TG | c.8095G>T (p.Glu2699Ter) c.3461G>T c.2494G>T (p.Glu832Ter) c.307G>T (p.Glu103Ter) n.181G>T c.4750G>T c.7903G>T (p.Glu2635Ter) c.8032G>T (p.Glu2678Ter) c.8029G>T (p.Glu2677Ter) c.7960G>T (p.Glu2654Ter) c.7924G>T (p.Glu2642Ter) c.7876G>T (p.Glu2626Ter) c.7834G>T (p.Glu2612Ter) | ClinVar |
8 | g.133133568A= | CA1821104937 | TG | c.8096A= (p.Glu2699=) c.3462A= c.2495A= (p.Glu832=) c.308A= (p.Glu103=) n.182A= c.4751A= c.7904A= (p.Glu2635=) c.8033A= (p.Glu2678=) c.8030A= (p.Glu2677=) c.7961A= (p.Glu2654=) c.7925A= (p.Glu2642=) c.7877A= (p.Glu2626=) c.7835A= (p.Glu2612=) | |
8 | g.133133568A>C | CA372253362 | TG | c.8096A>C (p.Glu2699Ala) c.3462A>C c.2495A>C (p.Glu832Ala) c.308A>C (p.Glu103Ala) n.182A>C c.4751A>C c.7904A>C (p.Glu2635Ala) c.8033A>C (p.Glu2678Ala) c.8030A>C (p.Glu2677Ala) c.7961A>C (p.Glu2654Ala) c.7925A>C (p.Glu2642Ala) c.7877A>C (p.Glu2626Ala) c.7835A>C (p.Glu2612Ala) | |
8 | g.133133568A>G | CA372253364 | TG | c.8096A>G (p.Glu2699Gly) c.3462A>G c.2495A>G (p.Glu832Gly) c.308A>G (p.Glu103Gly) n.182A>G c.4751A>G c.7904A>G (p.Glu2635Gly) c.8033A>G (p.Glu2678Gly) c.8030A>G (p.Glu2677Gly) c.7961A>G (p.Glu2654Gly) c.7925A>G (p.Glu2642Gly) c.7877A>G (p.Glu2626Gly) c.7835A>G (p.Glu2612Gly) | dbSNP |
8 | g.133133568A>T | CA372253365 | TG | c.8096A>T (p.Glu2699Val) c.3462A>T c.2495A>T (p.Glu832Val) c.308A>T (p.Glu103Val) n.182A>T c.4751A>T c.7904A>T (p.Glu2635Val) c.8033A>T (p.Glu2678Val) c.8030A>T (p.Glu2677Val) c.7961A>T (p.Glu2654Val) c.7925A>T (p.Glu2642Val) c.7877A>T (p.Glu2626Val) c.7835A>T (p.Glu2612Val) | |
8 | g.133133569G>A | CA463017161 | TG | c.8097G>A (p.Glu2699=) c.3463G>A c.2496G>A (p.Glu832=) c.309G>A (p.Glu103=) n.183G>A c.4752G>A c.7905G>A (p.Glu2635=) c.8034G>A (p.Glu2678=) c.8031G>A (p.Glu2677=) c.7962G>A (p.Glu2654=) c.7926G>A (p.Glu2642=) c.7878G>A (p.Glu2626=) c.7836G>A (p.Glu2612=) | gnomAD v4 |
8 | g.133133569G>C | CA372253367 | TG | c.8097G>C (p.Glu2699Asp) c.3463G>C c.2496G>C (p.Glu832Asp) c.309G>C (p.Glu103Asp) n.183G>C c.4752G>C c.7905G>C (p.Glu2635Asp) c.8034G>C (p.Glu2678Asp) c.8031G>C (p.Glu2677Asp) c.7962G>C (p.Glu2654Asp) c.7926G>C (p.Glu2642Asp) c.7878G>C (p.Glu2626Asp) c.7836G>C (p.Glu2612Asp) | |
8 | g.133133569G>T | CA372253369 | TG | c.8097G>T (p.Glu2699Asp) c.3463G>T c.2496G>T (p.Glu832Asp) c.309G>T (p.Glu103Asp) n.183G>T c.4752G>T c.7905G>T (p.Glu2635Asp) c.8034G>T (p.Glu2678Asp) c.8031G>T (p.Glu2677Asp) c.7962G>T (p.Glu2654Asp) c.7926G>T (p.Glu2642Asp) c.7878G>T (p.Glu2626Asp) c.7836G>T (p.Glu2612Asp) | |
8 | g.133133570T>A | CA372253370 | TG | c.8098T>A (p.Phe2700Ile) c.3464T>A c.2497T>A (p.Phe833Ile) c.310T>A (p.Phe104Ile) n.184T>A c.4753T>A c.7906T>A (p.Phe2636Ile) c.8035T>A (p.Phe2679Ile) c.8032T>A (p.Phe2678Ile) c.7963T>A (p.Phe2655Ile) c.7927T>A (p.Phe2643Ile) c.7879T>A (p.Phe2627Ile) c.7837T>A (p.Phe2613Ile) | |
8 | g.133133570T>C | CA372253371 | TG | c.8098T>C (p.Phe2700Leu) c.3464T>C c.2497T>C (p.Phe833Leu) c.310T>C (p.Phe104Leu) n.184T>C c.4753T>C c.7906T>C (p.Phe2636Leu) c.8035T>C (p.Phe2679Leu) c.8032T>C (p.Phe2678Leu) c.7963T>C (p.Phe2655Leu) c.7927T>C (p.Phe2643Leu) c.7879T>C (p.Phe2627Leu) c.7837T>C (p.Phe2613Leu) | |
8 | g.133133570T>G | CA372253373 | TG | c.8098T>G (p.Phe2700Val) c.3464T>G c.2497T>G (p.Phe833Val) c.310T>G (p.Phe104Val) n.184T>G c.4753T>G c.7906T>G (p.Phe2636Val) c.8035T>G (p.Phe2679Val) c.8032T>G (p.Phe2678Val) c.7963T>G (p.Phe2655Val) c.7927T>G (p.Phe2643Val) c.7879T>G (p.Phe2627Val) c.7837T>G (p.Phe2613Val) | |
8 | g.133133571T>A | CA372253377 | TG | c.8099T>A (p.Phe2700Tyr) c.3465T>A c.2498T>A (p.Phe833Tyr) c.311T>A (p.Phe104Tyr) n.185T>A c.4754T>A c.7907T>A (p.Phe2636Tyr) c.8036T>A (p.Phe2679Tyr) c.8033T>A (p.Phe2678Tyr) c.7964T>A (p.Phe2655Tyr) c.7928T>A (p.Phe2643Tyr) c.7880T>A (p.Phe2627Tyr) c.7838T>A (p.Phe2613Tyr) | |
8 | g.133133571T>C | CA372253379 | TG | c.8099T>C (p.Phe2700Ser) c.3465T>C c.2498T>C (p.Phe833Ser) c.311T>C (p.Phe104Ser) n.185T>C c.4754T>C c.7907T>C (p.Phe2636Ser) c.8036T>C (p.Phe2679Ser) c.8033T>C (p.Phe2678Ser) c.7964T>C (p.Phe2655Ser) c.7928T>C (p.Phe2643Ser) c.7880T>C (p.Phe2627Ser) c.7838T>C (p.Phe2613Ser) | |
8 | g.133133571T>G | CA372253375 | TG | c.8099T>G (p.Phe2700Cys) c.3465T>G c.2498T>G (p.Phe833Cys) c.311T>G (p.Phe104Cys) n.185T>G c.4754T>G c.7907T>G (p.Phe2636Cys) c.8036T>G (p.Phe2679Cys) c.8033T>G (p.Phe2678Cys) c.7964T>G (p.Phe2655Cys) c.7928T>G (p.Phe2643Cys) c.7880T>G (p.Phe2627Cys) c.7838T>G (p.Phe2613Cys) | |
8 | g.133133572C>A | CA372253381 | TG | c.8100C>A (p.Phe2700Leu) c.3466C>A c.2499C>A (p.Phe833Leu) c.312C>A (p.Phe104Leu) n.186C>A c.4755C>A c.7908C>A (p.Phe2636Leu) c.8037C>A (p.Phe2679Leu) c.8034C>A (p.Phe2678Leu) c.7965C>A (p.Phe2655Leu) c.7929C>A (p.Phe2643Leu) c.7881C>A (p.Phe2627Leu) c.7839C>A (p.Phe2613Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133572C= | CA1821104938 | TG | c.8100C= (p.Phe2700=) c.3466C= c.2499C= (p.Phe833=) c.312C= (p.Phe104=) n.186C= c.4755C= c.7908C= (p.Phe2636=) c.8037C= (p.Phe2679=) c.8034C= (p.Phe2678=) c.7965C= (p.Phe2655=) c.7929C= (p.Phe2643=) c.7881C= (p.Phe2627=) c.7839C= (p.Phe2613=) | |
8 | g.133133572C>G | CA372253383 | TG | c.8100C>G (p.Phe2700Leu) c.3466C>G c.2499C>G (p.Phe833Leu) c.312C>G (p.Phe104Leu) n.186C>G c.4755C>G c.7908C>G (p.Phe2636Leu) c.8037C>G (p.Phe2679Leu) c.8034C>G (p.Phe2678Leu) c.7965C>G (p.Phe2655Leu) c.7929C>G (p.Phe2643Leu) c.7881C>G (p.Phe2627Leu) c.7839C>G (p.Phe2613Leu) | |
8 | g.133133572C>T | CA463017166 | TG | c.8100C>T (p.Phe2700=) c.3466C>T c.2499C>T (p.Phe833=) c.312C>T (p.Phe104=) n.186C>T c.4755C>T c.7908C>T (p.Phe2636=) c.8037C>T (p.Phe2679=) c.8034C>T (p.Phe2678=) c.7965C>T (p.Phe2655=) c.7929C>T (p.Phe2643=) c.7881C>T (p.Phe2627=) c.7839C>T (p.Phe2613=) | |
8 | g.133133573A= | CA1821104939 | TG | c.8101A= (p.Ser2701=) c.3467A= c.2500A= (p.Ser834=) c.313A= (p.Ser105=) n.187A= c.4756A= c.7909A= (p.Ser2637=) c.8038A= (p.Ser2680=) c.8035A= (p.Ser2679=) c.7966A= (p.Ser2656=) c.7930A= (p.Ser2644=) c.7882A= (p.Ser2628=) c.7840A= (p.Ser2614=) | |
8 | g.133133573A>C | CA372253386 | TG | c.8101A>C (p.Ser2701Arg) c.3467A>C c.2500A>C (p.Ser834Arg) c.313A>C (p.Ser105Arg) n.187A>C c.4756A>C c.7909A>C (p.Ser2637Arg) c.8038A>C (p.Ser2680Arg) c.8035A>C (p.Ser2679Arg) c.7966A>C (p.Ser2656Arg) c.7930A>C (p.Ser2644Arg) c.7882A>C (p.Ser2628Arg) c.7840A>C (p.Ser2614Arg) | |
8 | g.133133573A>G | CA186356750 | TG | c.8101A>G (p.Ser2701Gly) c.3467A>G c.2500A>G (p.Ser834Gly) c.313A>G (p.Ser105Gly) n.187A>G c.4756A>G c.7909A>G (p.Ser2637Gly) c.8038A>G (p.Ser2680Gly) c.8035A>G (p.Ser2679Gly) c.7966A>G (p.Ser2656Gly) c.7930A>G (p.Ser2644Gly) c.7882A>G (p.Ser2628Gly) c.7840A>G (p.Ser2614Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133573A>T | CA372253387 | TG | c.8101A>T (p.Ser2701Cys) c.3467A>T c.2500A>T (p.Ser834Cys) c.313A>T (p.Ser105Cys) n.187A>T c.4756A>T c.7909A>T (p.Ser2637Cys) c.8038A>T (p.Ser2680Cys) c.8035A>T (p.Ser2679Cys) c.7966A>T (p.Ser2656Cys) c.7930A>T (p.Ser2644Cys) c.7882A>T (p.Ser2628Cys) c.7840A>T (p.Ser2614Cys) | |
8 | g.133133574G>A | CA4885894 | TG | c.8102G>A (p.Ser2701Asn) c.3468G>A c.2501G>A (p.Ser834Asn) c.314G>A (p.Ser105Asn) n.188G>A c.4757G>A c.7910G>A (p.Ser2637Asn) c.8039G>A (p.Ser2680Asn) c.8036G>A (p.Ser2679Asn) c.7967G>A (p.Ser2656Asn) c.7931G>A (p.Ser2644Asn) c.7883G>A (p.Ser2628Asn) c.7841G>A (p.Ser2614Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133574G>C | CA372253389 | TG | c.8102G>C (p.Ser2701Thr) c.3468G>C c.2501G>C (p.Ser834Thr) c.314G>C (p.Ser105Thr) n.188G>C c.4757G>C c.7910G>C (p.Ser2637Thr) c.8039G>C (p.Ser2680Thr) c.8036G>C (p.Ser2679Thr) c.7967G>C (p.Ser2656Thr) c.7931G>C (p.Ser2644Thr) c.7883G>C (p.Ser2628Thr) c.7841G>C (p.Ser2614Thr) | |
8 | g.133133574G= | CA1821104940 | TG | c.8102G= (p.Ser2701=) c.3468G= c.2501G= (p.Ser834=) c.314G= (p.Ser105=) n.188G= c.4757G= c.7910G= (p.Ser2637=) c.8039G= (p.Ser2680=) c.8036G= (p.Ser2679=) c.7967G= (p.Ser2656=) c.7931G= (p.Ser2644=) c.7883G= (p.Ser2628=) c.7841G= (p.Ser2614=) | |
8 | g.133133574G>T | CA372253391 | TG | c.8102G>T (p.Ser2701Ile) c.3468G>T c.2501G>T (p.Ser834Ile) c.314G>T (p.Ser105Ile) n.188G>T c.4757G>T c.7910G>T (p.Ser2637Ile) c.8039G>T (p.Ser2680Ile) c.8036G>T (p.Ser2679Ile) c.7967G>T (p.Ser2656Ile) c.7931G>T (p.Ser2644Ile) c.7883G>T (p.Ser2628Ile) c.7841G>T (p.Ser2614Ile) | |
8 | g.133133575T>A | CA372253392 | TG | c.8103T>A (p.Ser2701Arg) c.3469T>A c.2502T>A (p.Ser834Arg) c.315T>A (p.Ser105Arg) n.189T>A c.4758T>A c.7911T>A (p.Ser2637Arg) c.8040T>A (p.Ser2680Arg) c.8037T>A (p.Ser2679Arg) c.7968T>A (p.Ser2656Arg) c.7932T>A (p.Ser2644Arg) c.7884T>A (p.Ser2628Arg) c.7842T>A (p.Ser2614Arg) | |
8 | g.133133575T>C | CA463017171 | TG | c.8103T>C (p.Ser2701=) c.3469T>C c.2502T>C (p.Ser834=) c.315T>C (p.Ser105=) n.189T>C c.4758T>C c.7911T>C (p.Ser2637=) c.8040T>C (p.Ser2680=) c.8037T>C (p.Ser2679=) c.7968T>C (p.Ser2656=) c.7932T>C (p.Ser2644=) c.7884T>C (p.Ser2628=) c.7842T>C (p.Ser2614=) | |
8 | g.133133575T>G | CA372253393 | TG | c.8103T>G (p.Ser2701Arg) c.3469T>G c.2502T>G (p.Ser834Arg) c.315T>G (p.Ser105Arg) n.189T>G c.4758T>G c.7911T>G (p.Ser2637Arg) c.8040T>G (p.Ser2680Arg) c.8037T>G (p.Ser2679Arg) c.7968T>G (p.Ser2656Arg) c.7932T>G (p.Ser2644Arg) c.7884T>G (p.Ser2628Arg) c.7842T>G (p.Ser2614Arg) | gnomAD v4 |
8 | g.133133576G>A | CA186356788 | TG | c.8104G>A (p.Glu2702Lys) c.3470G>A c.2503G>A (p.Glu835Lys) c.316G>A (p.Glu106Lys) n.190G>A c.4759G>A c.7912G>A (p.Glu2638Lys) c.8041G>A (p.Glu2681Lys) c.8038G>A (p.Glu2680Lys) c.7969G>A (p.Glu2657Lys) c.7933G>A (p.Glu2645Lys) c.7885G>A (p.Glu2629Lys) c.7843G>A (p.Glu2615Lys) | dbSNP |
8 | g.133133576G>C | CA372253396 | TG | c.8104G>C (p.Glu2702Gln) c.3470G>C c.2503G>C (p.Glu835Gln) c.316G>C (p.Glu106Gln) n.190G>C c.4759G>C c.7912G>C (p.Glu2638Gln) c.8041G>C (p.Glu2681Gln) c.8038G>C (p.Glu2680Gln) c.7969G>C (p.Glu2657Gln) c.7933G>C (p.Glu2645Gln) c.7885G>C (p.Glu2629Gln) c.7843G>C (p.Glu2615Gln) | |
8 | g.133133576G= | CA1821104941 | TG | c.8104G= (p.Glu2702=) c.3470G= c.2503G= (p.Glu835=) c.316G= (p.Glu106=) n.190G= c.4759G= c.7912G= (p.Glu2638=) c.8041G= (p.Glu2681=) c.8038G= (p.Glu2680=) c.7969G= (p.Glu2657=) c.7933G= (p.Glu2645=) c.7885G= (p.Glu2629=) c.7843G= (p.Glu2615=) | |
8 | g.133133576G>T | CA372253398 | TG | c.8104G>T (p.Glu2702Ter) c.3470G>T c.2503G>T (p.Glu835Ter) c.316G>T (p.Glu106Ter) n.190G>T c.4759G>T c.7912G>T (p.Glu2638Ter) c.8041G>T (p.Glu2681Ter) c.8038G>T (p.Glu2680Ter) c.7969G>T (p.Glu2657Ter) c.7933G>T (p.Glu2645Ter) c.7885G>T (p.Glu2629Ter) c.7843G>T (p.Glu2615Ter) | |
8 | g.133133577A>C | CA372253400 | TG | c.8105A>C (p.Glu2702Ala) c.3471A>C c.2504A>C (p.Glu835Ala) c.317A>C (p.Glu106Ala) n.191A>C c.4760A>C c.7913A>C (p.Glu2638Ala) c.8042A>C (p.Glu2681Ala) c.8039A>C (p.Glu2680Ala) c.7970A>C (p.Glu2657Ala) c.7934A>C (p.Glu2645Ala) c.7886A>C (p.Glu2629Ala) c.7844A>C (p.Glu2615Ala) | dbSNP |
8 | g.133133577A>G | CA372253402 | TG | c.8105A>G (p.Glu2702Gly) c.3471A>G c.2504A>G (p.Glu835Gly) c.317A>G (p.Glu106Gly) n.191A>G c.4760A>G c.7913A>G (p.Glu2638Gly) c.8042A>G (p.Glu2681Gly) c.8039A>G (p.Glu2680Gly) c.7970A>G (p.Glu2657Gly) c.7934A>G (p.Glu2645Gly) c.7886A>G (p.Glu2629Gly) c.7844A>G (p.Glu2615Gly) | |
8 | g.133133577A>T | CA372253401 | TG | c.8105A>T (p.Glu2702Val) c.3471A>T c.2504A>T (p.Glu835Val) c.317A>T (p.Glu106Val) n.191A>T c.4760A>T c.7913A>T (p.Glu2638Val) c.8042A>T (p.Glu2681Val) c.8039A>T (p.Glu2680Val) c.7970A>T (p.Glu2657Val) c.7934A>T (p.Glu2645Val) c.7886A>T (p.Glu2629Val) c.7844A>T (p.Glu2615Val) | |
8 | g.133133578G>A | CA463017175 | TG | c.8106G>A (p.Glu2702=) c.3472G>A c.2505G>A (p.Glu835=) c.318G>A (p.Glu106=) n.192G>A c.4761G>A c.7914G>A (p.Glu2638=) c.8043G>A (p.Glu2681=) c.8040G>A (p.Glu2680=) c.7971G>A (p.Glu2657=) c.7935G>A (p.Glu2645=) c.7887G>A (p.Glu2629=) c.7845G>A (p.Glu2615=) | |
8 | g.133133578G>C | CA372253404 | TG | c.8106G>C (p.Glu2702Asp) c.3472G>C c.2505G>C (p.Glu835Asp) c.318G>C (p.Glu106Asp) n.192G>C c.4761G>C c.7914G>C (p.Glu2638Asp) c.8043G>C (p.Glu2681Asp) c.8040G>C (p.Glu2680Asp) c.7971G>C (p.Glu2657Asp) c.7935G>C (p.Glu2645Asp) c.7887G>C (p.Glu2629Asp) c.7845G>C (p.Glu2615Asp) | |
8 | g.133133578G>T | CA372253405 | TG | c.8106G>T (p.Glu2702Asp) c.3472G>T c.2505G>T (p.Glu835Asp) c.318G>T (p.Glu106Asp) n.192G>T c.4761G>T c.7914G>T (p.Glu2638Asp) c.8043G>T (p.Glu2681Asp) c.8040G>T (p.Glu2680Asp) c.7971G>T (p.Glu2657Asp) c.7935G>T (p.Glu2645Asp) c.7887G>T (p.Glu2629Asp) c.7845G>T (p.Glu2615Asp) | |
8 | g.133133581_133133583dup | CA2579255375 | TG | c.8109_8111dup (p.Leu2704_Pro2705insLeu) c.3475_3477dup c.2508_2510dup (p.Leu837_Pro838insLeu) c.321_323dup (p.Leu108_Pro109insLeu) n.195_197dup c.4764_4766dup c.7917_7919dup (p.Leu2640_Pro2641insLeu) c.8046_8048dup (p.Leu2683_Pro2684insLeu) c.8043_8045dup (p.Leu2682_Pro2683insLeu) c.7974_7976dup (p.Leu2659_Pro2660insLeu) c.7938_7940dup (p.Leu2647_Pro2648insLeu) c.7890_7892dup (p.Leu2631_Pro2632insLeu) c.7848_7850dup (p.Leu2617_Pro2618insLeu) | gnomAD v4 |
8 | g.133133579C>A | CA372253407 | TG | c.8107C>A (p.Leu2703Met) c.3473C>A c.2506C>A (p.Leu836Met) c.319C>A (p.Leu107Met) n.193C>A c.4762C>A c.7915C>A (p.Leu2639Met) c.8044C>A (p.Leu2682Met) c.8041C>A (p.Leu2681Met) c.7972C>A (p.Leu2658Met) c.7936C>A (p.Leu2646Met) c.7888C>A (p.Leu2630Met) c.7846C>A (p.Leu2616Met) | gnomAD v4 |
8 | g.133133579C>G | CA372253409 | TG | c.8107C>G (p.Leu2703Val) c.3473C>G c.2506C>G (p.Leu836Val) c.319C>G (p.Leu107Val) n.193C>G c.4762C>G c.7915C>G (p.Leu2639Val) c.8044C>G (p.Leu2682Val) c.8041C>G (p.Leu2681Val) c.7972C>G (p.Leu2658Val) c.7936C>G (p.Leu2646Val) c.7888C>G (p.Leu2630Val) c.7846C>G (p.Leu2616Val) | |
8 | g.133133579C>T | CA463017176 | TG | c.8107C>T (p.Leu2703=) c.3473C>T c.2506C>T (p.Leu836=) c.319C>T (p.Leu107=) n.193C>T c.4762C>T c.7915C>T (p.Leu2639=) c.8044C>T (p.Leu2682=) c.8041C>T (p.Leu2681=) c.7972C>T (p.Leu2658=) c.7936C>T (p.Leu2646=) c.7888C>T (p.Leu2630=) c.7846C>T (p.Leu2616=) | ClinVar |
8 | g.133133580T>A | CA372253410 | TG | c.8108T>A (p.Leu2703Gln) c.3474T>A c.2507T>A (p.Leu836Gln) c.320T>A (p.Leu107Gln) n.194T>A c.4763T>A c.7916T>A (p.Leu2639Gln) c.8045T>A (p.Leu2682Gln) c.8042T>A (p.Leu2681Gln) c.7973T>A (p.Leu2658Gln) c.7937T>A (p.Leu2646Gln) c.7889T>A (p.Leu2630Gln) c.7847T>A (p.Leu2616Gln) | |
8 | g.133133580T>C | CA372253412 | TG | c.8108T>C (p.Leu2703Pro) c.3474T>C c.2507T>C (p.Leu836Pro) c.320T>C (p.Leu107Pro) n.194T>C c.4763T>C c.7916T>C (p.Leu2639Pro) c.8045T>C (p.Leu2682Pro) c.8042T>C (p.Leu2681Pro) c.7973T>C (p.Leu2658Pro) c.7937T>C (p.Leu2646Pro) c.7889T>C (p.Leu2630Pro) c.7847T>C (p.Leu2616Pro) | |
8 | g.133133580T>G | CA372253414 | TG | c.8108T>G (p.Leu2703Arg) c.3474T>G c.2507T>G (p.Leu836Arg) c.320T>G (p.Leu107Arg) n.194T>G c.4763T>G c.7916T>G (p.Leu2639Arg) c.8045T>G (p.Leu2682Arg) c.8042T>G (p.Leu2681Arg) c.7973T>G (p.Leu2658Arg) c.7937T>G (p.Leu2646Arg) c.7889T>G (p.Leu2630Arg) c.7847T>G (p.Leu2616Arg) | gnomAD v4 |
8 | g.133133581G>A | CA463017180 | TG | c.8109G>A (p.Leu2703=) c.3475G>A c.2508G>A (p.Leu836=) c.321G>A (p.Leu107=) n.195G>A c.4764G>A c.7917G>A (p.Leu2639=) c.8046G>A (p.Leu2682=) c.8043G>A (p.Leu2681=) c.7974G>A (p.Leu2658=) c.7938G>A (p.Leu2646=) c.7890G>A (p.Leu2630=) c.7848G>A (p.Leu2616=) | |
8 | g.133133581G>C | CA463017182 | TG | c.8109G>C (p.Leu2703=) c.3475G>C c.2508G>C (p.Leu836=) c.321G>C (p.Leu107=) n.195G>C c.4764G>C c.7917G>C (p.Leu2639=) c.8046G>C (p.Leu2682=) c.8043G>C (p.Leu2681=) c.7974G>C (p.Leu2658=) c.7938G>C (p.Leu2646=) c.7890G>C (p.Leu2630=) c.7848G>C (p.Leu2616=) | |
8 | g.133133581G= | CA1821104942 | TG | c.8109G= (p.Leu2703=) c.3475G= c.2508G= (p.Leu836=) c.321G= (p.Leu107=) n.195G= c.4764G= c.7917G= (p.Leu2639=) c.8046G= (p.Leu2682=) c.8043G= (p.Leu2681=) c.7974G= (p.Leu2658=) c.7938G= (p.Leu2646=) c.7890G= (p.Leu2630=) c.7848G= (p.Leu2616=) | |
8 | g.133133581G>T | CA463017183 | TG | c.8109G>T (p.Leu2703=) c.3475G>T c.2508G>T (p.Leu836=) c.321G>T (p.Leu107=) n.195G>T c.4764G>T c.7917G>T (p.Leu2639=) c.8046G>T (p.Leu2682=) c.8043G>T (p.Leu2681=) c.7974G>T (p.Leu2658=) c.7938G>T (p.Leu2646=) c.7890G>T (p.Leu2630=) c.7848G>T (p.Leu2616=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133582C>A | CA372253417 | TG | c.8110C>A (p.Leu2704Ile) c.3476C>A c.2509C>A (p.Leu837Ile) c.322C>A (p.Leu108Ile) n.196C>A c.4765C>A c.7918C>A (p.Leu2640Ile) c.8047C>A (p.Leu2683Ile) c.8044C>A (p.Leu2682Ile) c.7975C>A (p.Leu2659Ile) c.7939C>A (p.Leu2647Ile) c.7891C>A (p.Leu2631Ile) c.7849C>A (p.Leu2617Ile) | COSMIC |
8 | g.133133582C>G | CA372253418 | TG | c.8110C>G (p.Leu2704Val) c.3476C>G c.2509C>G (p.Leu837Val) c.322C>G (p.Leu108Val) n.196C>G c.4765C>G c.7918C>G (p.Leu2640Val) c.8047C>G (p.Leu2683Val) c.8044C>G (p.Leu2682Val) c.7975C>G (p.Leu2659Val) c.7939C>G (p.Leu2647Val) c.7891C>G (p.Leu2631Val) c.7849C>G (p.Leu2617Val) | |
8 | g.133133582C>T | CA372253420 | TG | c.8110C>T (p.Leu2704Phe) c.3476C>T c.2509C>T (p.Leu837Phe) c.322C>T (p.Leu108Phe) n.196C>T c.4765C>T c.7918C>T (p.Leu2640Phe) c.8047C>T (p.Leu2683Phe) c.8044C>T (p.Leu2682Phe) c.7975C>T (p.Leu2659Phe) c.7939C>T (p.Leu2647Phe) c.7891C>T (p.Leu2631Phe) c.7849C>T (p.Leu2617Phe) | |
8 | g.133133583T>A | CA4885895 | TG | c.8111T>A (p.Leu2704His) c.3477T>A c.2510T>A (p.Leu837His) c.323T>A (p.Leu108His) n.197T>A c.4766T>A c.7919T>A (p.Leu2640His) c.8048T>A (p.Leu2683His) c.8045T>A (p.Leu2682His) c.7976T>A (p.Leu2659His) c.7940T>A (p.Leu2647His) c.7892T>A (p.Leu2631His) c.7850T>A (p.Leu2617His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133583T>C | CA372253423 | TG | c.8111T>C (p.Leu2704Pro) c.3477T>C c.2510T>C (p.Leu837Pro) c.323T>C (p.Leu108Pro) n.197T>C c.4766T>C c.7919T>C (p.Leu2640Pro) c.8048T>C (p.Leu2683Pro) c.8045T>C (p.Leu2682Pro) c.7976T>C (p.Leu2659Pro) c.7940T>C (p.Leu2647Pro) c.7892T>C (p.Leu2631Pro) c.7850T>C (p.Leu2617Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133583T>G | CA372253422 | TG | c.8111T>G (p.Leu2704Arg) c.3477T>G c.2510T>G (p.Leu837Arg) c.323T>G (p.Leu108Arg) n.197T>G c.4766T>G c.7919T>G (p.Leu2640Arg) c.8048T>G (p.Leu2683Arg) c.8045T>G (p.Leu2682Arg) c.7976T>G (p.Leu2659Arg) c.7940T>G (p.Leu2647Arg) c.7892T>G (p.Leu2631Arg) c.7850T>G (p.Leu2617Arg) | |
8 | g.133133583T= | CA1821104943 | TG | c.8111T= (p.Leu2704=) c.3477T= c.2510T= (p.Leu837=) c.323T= (p.Leu108=) n.197T= c.4766T= c.7919T= (p.Leu2640=) c.8048T= (p.Leu2683=) c.8045T= (p.Leu2682=) c.7976T= (p.Leu2659=) c.7940T= (p.Leu2647=) c.7892T= (p.Leu2631=) c.7850T= (p.Leu2617=) | |
8 | g.133133584C>A | CA463017188 | TG | c.8112C>A (p.Leu2704=) c.3478C>A c.2511C>A (p.Leu837=) c.324C>A (p.Leu108=) n.198C>A c.4767C>A c.7920C>A (p.Leu2640=) c.8049C>A (p.Leu2683=) c.8046C>A (p.Leu2682=) c.7977C>A (p.Leu2659=) c.7941C>A (p.Leu2647=) c.7893C>A (p.Leu2631=) c.7851C>A (p.Leu2617=) | |
8 | g.133133584C>G | CA463017189 | TG | c.8112C>G (p.Leu2704=) c.3478C>G c.2511C>G (p.Leu837=) c.324C>G (p.Leu108=) n.198C>G c.4767C>G c.7920C>G (p.Leu2640=) c.8049C>G (p.Leu2683=) c.8046C>G (p.Leu2682=) c.7977C>G (p.Leu2659=) c.7941C>G (p.Leu2647=) c.7893C>G (p.Leu2631=) c.7851C>G (p.Leu2617=) | |
8 | g.133133584C>T | CA463017190 | TG | c.8112C>T (p.Leu2704=) c.3478C>T c.2511C>T (p.Leu837=) c.324C>T (p.Leu108=) n.198C>T c.4767C>T c.7920C>T (p.Leu2640=) c.8049C>T (p.Leu2683=) c.8046C>T (p.Leu2682=) c.7977C>T (p.Leu2659=) c.7941C>T (p.Leu2647=) c.7893C>T (p.Leu2631=) c.7851C>T (p.Leu2617=) | ClinVar gnomAD v4 COSMIC |
8 | g.133133585C>A | CA372253426 | TG | c.8113C>A (p.Pro2705Thr) c.3479C>A c.2512C>A (p.Pro838Thr) c.325C>A (p.Pro109Thr) n.199C>A c.4768C>A c.7921C>A (p.Pro2641Thr) c.8050C>A (p.Pro2684Thr) c.8047C>A (p.Pro2683Thr) c.7978C>A (p.Pro2660Thr) c.7942C>A (p.Pro2648Thr) c.7894C>A (p.Pro2632Thr) c.7852C>A (p.Pro2618Thr) | dbSNP |
8 | g.133133585C>G | CA372253429 | TG | c.8113C>G (p.Pro2705Ala) c.3479C>G c.2512C>G (p.Pro838Ala) c.325C>G (p.Pro109Ala) n.199C>G c.4768C>G c.7921C>G (p.Pro2641Ala) c.8050C>G (p.Pro2684Ala) c.8047C>G (p.Pro2683Ala) c.7978C>G (p.Pro2660Ala) c.7942C>G (p.Pro2648Ala) c.7894C>G (p.Pro2632Ala) c.7852C>G (p.Pro2618Ala) | |
8 | g.133133585C>T | CA372253427 | TG | c.8113C>T (p.Pro2705Ser) c.3479C>T c.2512C>T (p.Pro838Ser) c.325C>T (p.Pro109Ser) n.199C>T c.4768C>T c.7921C>T (p.Pro2641Ser) c.8050C>T (p.Pro2684Ser) c.8047C>T (p.Pro2683Ser) c.7978C>T (p.Pro2660Ser) c.7942C>T (p.Pro2648Ser) c.7894C>T (p.Pro2632Ser) c.7852C>T (p.Pro2618Ser) | |
8 | g.133133586C>A | CA372253431 | TG | c.8114C>A (p.Pro2705His) c.3480C>A c.2513C>A (p.Pro838His) c.326C>A (p.Pro109His) n.200C>A c.4769C>A c.7922C>A (p.Pro2641His) c.8051C>A (p.Pro2684His) c.8048C>A (p.Pro2683His) c.7979C>A (p.Pro2660His) c.7943C>A (p.Pro2648His) c.7895C>A (p.Pro2632His) c.7853C>A (p.Pro2618His) | dbSNP |
8 | g.133133586C= | CA1821104944 | TG | c.8114C= (p.Pro2705=) c.3480C= c.2513C= (p.Pro838=) c.326C= (p.Pro109=) n.200C= c.4769C= c.7922C= (p.Pro2641=) c.8051C= (p.Pro2684=) c.8048C= (p.Pro2683=) c.7979C= (p.Pro2660=) c.7943C= (p.Pro2648=) c.7895C= (p.Pro2632=) c.7853C= (p.Pro2618=) | |
8 | g.133133586C>G | CA372253433 | TG | c.8114C>G (p.Pro2705Arg) c.3480C>G c.2513C>G (p.Pro838Arg) c.326C>G (p.Pro109Arg) n.200C>G c.4769C>G c.7922C>G (p.Pro2641Arg) c.8051C>G (p.Pro2684Arg) c.8048C>G (p.Pro2683Arg) c.7979C>G (p.Pro2660Arg) c.7943C>G (p.Pro2648Arg) c.7895C>G (p.Pro2632Arg) c.7853C>G (p.Pro2618Arg) | |
8 | g.133133586C>T | CA372253434 | TG | c.8114C>T (p.Pro2705Leu) c.3480C>T c.2513C>T (p.Pro838Leu) c.326C>T (p.Pro109Leu) n.200C>T c.4769C>T c.7922C>T (p.Pro2641Leu) c.8051C>T (p.Pro2684Leu) c.8048C>T (p.Pro2683Leu) c.7979C>T (p.Pro2660Leu) c.7943C>T (p.Pro2648Leu) c.7895C>T (p.Pro2632Leu) c.7853C>T (p.Pro2618Leu) | |
8 | g.133133587C>A | CA463017197 | TG | c.8115C>A (p.Pro2705=) c.3481C>A c.2514C>A (p.Pro838=) c.327C>A (p.Pro109=) n.201C>A c.4770C>A c.7923C>A (p.Pro2641=) c.8052C>A (p.Pro2684=) c.8049C>A (p.Pro2683=) c.7980C>A (p.Pro2660=) c.7944C>A (p.Pro2648=) c.7896C>A (p.Pro2632=) c.7854C>A (p.Pro2618=) | |
8 | g.133133587C>G | CA463017195 | TG | c.8115C>G (p.Pro2705=) c.3481C>G c.2514C>G (p.Pro838=) c.327C>G (p.Pro109=) n.201C>G c.4770C>G c.7923C>G (p.Pro2641=) c.8052C>G (p.Pro2684=) c.8049C>G (p.Pro2683=) c.7980C>G (p.Pro2660=) c.7944C>G (p.Pro2648=) c.7896C>G (p.Pro2632=) c.7854C>G (p.Pro2618=) | |
8 | g.133133587C>T | CA463017196 | TG | c.8115C>T (p.Pro2705=) c.3481C>T c.2514C>T (p.Pro838=) c.327C>T (p.Pro109=) n.201C>T c.4770C>T c.7923C>T (p.Pro2641=) c.8052C>T (p.Pro2684=) c.8049C>T (p.Pro2683=) c.7980C>T (p.Pro2660=) c.7944C>T (p.Pro2648=) c.7896C>T (p.Pro2632=) c.7854C>T (p.Pro2618=) | gnomAD v4 |
8 | g.133133588A>C | CA372253436 | TG | c.8116A>C (p.Asn2706His) c.3482A>C c.2515A>C (p.Asn839His) c.328A>C (p.Asn110His) n.202A>C c.4771A>C c.7924A>C (p.Asn2642His) c.8053A>C (p.Asn2685His) c.8050A>C (p.Asn2684His) c.7981A>C (p.Asn2661His) c.7945A>C (p.Asn2649His) c.7897A>C (p.Asn2633His) c.7855A>C (p.Asn2619His) | |
8 | g.133133588A>G | CA372253438 | TG | c.8116A>G (p.Asn2706Asp) c.3482A>G c.2515A>G (p.Asn839Asp) c.328A>G (p.Asn110Asp) n.202A>G c.4771A>G c.7924A>G (p.Asn2642Asp) c.8053A>G (p.Asn2685Asp) c.8050A>G (p.Asn2684Asp) c.7981A>G (p.Asn2661Asp) c.7945A>G (p.Asn2649Asp) c.7897A>G (p.Asn2633Asp) c.7855A>G (p.Asn2619Asp) | |
8 | g.133133588A>T | CA372253440 | TG | c.8116A>T (p.Asn2706Tyr) c.3482A>T c.2515A>T (p.Asn839Tyr) c.328A>T (p.Asn110Tyr) n.202A>T c.4771A>T c.7924A>T (p.Asn2642Tyr) c.8053A>T (p.Asn2685Tyr) c.8050A>T (p.Asn2684Tyr) c.7981A>T (p.Asn2661Tyr) c.7945A>T (p.Asn2649Tyr) c.7897A>T (p.Asn2633Tyr) c.7855A>T (p.Asn2619Tyr) | |
8 | g.133133589A= | CA1821104945 | TG | c.8117A= (p.Asn2706=) c.3483A= c.2516A= (p.Asn839=) c.329A= (p.Asn110=) n.203A= c.4772A= c.7925A= (p.Asn2642=) c.8054A= (p.Asn2685=) c.8051A= (p.Asn2684=) c.7982A= (p.Asn2661=) c.7946A= (p.Asn2649=) c.7898A= (p.Asn2633=) c.7856A= (p.Asn2619=) | |
8 | g.133133589A>C | CA372253442 | TG | c.8117A>C (p.Asn2706Thr) c.3483A>C c.2516A>C (p.Asn839Thr) c.329A>C (p.Asn110Thr) n.203A>C c.4772A>C c.7925A>C (p.Asn2642Thr) c.8054A>C (p.Asn2685Thr) c.8051A>C (p.Asn2684Thr) c.7982A>C (p.Asn2661Thr) c.7946A>C (p.Asn2649Thr) c.7898A>C (p.Asn2633Thr) c.7856A>C (p.Asn2619Thr) | |
8 | g.133133589A>G | CA4885896 | TG | c.8117A>G (p.Asn2706Ser) c.3483A>G c.2516A>G (p.Asn839Ser) c.329A>G (p.Asn110Ser) n.203A>G c.4772A>G c.7925A>G (p.Asn2642Ser) c.8054A>G (p.Asn2685Ser) c.8051A>G (p.Asn2684Ser) c.7982A>G (p.Asn2661Ser) c.7946A>G (p.Asn2649Ser) c.7898A>G (p.Asn2633Ser) c.7856A>G (p.Asn2619Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133589A>T | CA372253444 | TG | c.8117A>T (p.Asn2706Ile) c.3483A>T c.2516A>T (p.Asn839Ile) c.329A>T (p.Asn110Ile) n.203A>T c.4772A>T c.7925A>T (p.Asn2642Ile) c.8054A>T (p.Asn2685Ile) c.8051A>T (p.Asn2684Ile) c.7982A>T (p.Asn2661Ile) c.7946A>T (p.Asn2649Ile) c.7898A>T (p.Asn2633Ile) c.7856A>T (p.Asn2619Ile) | |
8 | g.133133589_133133590insACACAC | CA2782278446 | TG | c.8117_8118insACACAC (p.Asn2706delinsLysHisThr) c.3483_3484insACACAC c.2516_2517insACACAC (p.Asn839delinsLysHisThr) c.329_330insACACAC (p.Asn110delinsLysHisThr) n.203_204insACACAC c.4772_4773insACACAC c.7925_7926insACACAC (p.Asn2642delinsLysHisThr) c.8054_8055insACACAC (p.Asn2685delinsLysHisThr) c.8051_8052insACACAC (p.Asn2684delinsLysHisThr) c.7982_7983insACACAC (p.Asn2661delinsLysHisThr) c.7946_7947insACACAC (p.Asn2649delinsLysHisThr) c.7898_7899insACACAC (p.Asn2633delinsLysHisThr) c.7856_7857insACACAC (p.Asn2619delinsLysHisThr) | |
8 | g.133133590T>A | CA372253445 | TG | c.8118T>A (p.Asn2706Lys) c.3484T>A c.2517T>A (p.Asn839Lys) c.330T>A (p.Asn110Lys) n.204T>A c.4773T>A c.7926T>A (p.Asn2642Lys) c.8055T>A (p.Asn2685Lys) c.8052T>A (p.Asn2684Lys) c.7983T>A (p.Asn2661Lys) c.7947T>A (p.Asn2649Lys) c.7899T>A (p.Asn2633Lys) c.7857T>A (p.Asn2619Lys) | gnomAD v4 |
8 | g.133133590T>C | CA4885897 | TG | c.8118T>C (p.Asn2706=) c.3484T>C c.2517T>C (p.Asn839=) c.330T>C (p.Asn110=) n.204T>C c.4773T>C c.7926T>C (p.Asn2642=) c.8055T>C (p.Asn2685=) c.8052T>C (p.Asn2684=) c.7983T>C (p.Asn2661=) c.7947T>C (p.Asn2649=) c.7899T>C (p.Asn2633=) c.7857T>C (p.Asn2619=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133590T>G | CA372253448 | TG | c.8118T>G (p.Asn2706Lys) c.3484T>G c.2517T>G (p.Asn839Lys) c.330T>G (p.Asn110Lys) n.204T>G c.4773T>G c.7926T>G (p.Asn2642Lys) c.8055T>G (p.Asn2685Lys) c.8052T>G (p.Asn2684Lys) c.7983T>G (p.Asn2661Lys) c.7947T>G (p.Asn2649Lys) c.7899T>G (p.Asn2633Lys) c.7857T>G (p.Asn2619Lys) | |
8 | g.133133590T= | CA1821104946 | TG | c.8118T= (p.Asn2706=) c.3484T= c.2517T= (p.Asn839=) c.330T= (p.Asn110=) n.204T= c.4773T= c.7926T= (p.Asn2642=) c.8055T= (p.Asn2685=) c.8052T= (p.Asn2684=) c.7983T= (p.Asn2661=) c.7947T= (p.Asn2649=) c.7899T= (p.Asn2633=) c.7857T= (p.Asn2619=) | |
8 | g.133133591C>A | CA463017202 | TG | c.8119C>A (p.Arg2707=) c.3485C>A c.2518C>A (p.Arg840=) c.331C>A (p.Arg111=) n.205C>A c.4774C>A c.7927C>A (p.Arg2643=) c.8056C>A (p.Arg2686=) c.8053C>A (p.Arg2685=) c.7984C>A (p.Arg2662=) c.7948C>A (p.Arg2650=) c.7900C>A (p.Arg2634=) c.7858C>A (p.Arg2620=) | |
8 | g.133133591C= | CA1821104947 | TG | c.8119C= (p.Arg2707=) c.3485C= c.2518C= (p.Arg840=) c.331C= (p.Arg111=) n.205C= c.4774C= c.7927C= (p.Arg2643=) c.8056C= (p.Arg2686=) c.8053C= (p.Arg2685=) c.7984C= (p.Arg2662=) c.7948C= (p.Arg2650=) c.7900C= (p.Arg2634=) c.7858C= (p.Arg2620=) | |
8 | g.133133591C>G | CA372253451 | TG | c.8119C>G (p.Arg2707Gly) c.3485C>G c.2518C>G (p.Arg840Gly) c.331C>G (p.Arg111Gly) n.205C>G c.4774C>G c.7927C>G (p.Arg2643Gly) c.8056C>G (p.Arg2686Gly) c.8053C>G (p.Arg2685Gly) c.7984C>G (p.Arg2662Gly) c.7948C>G (p.Arg2650Gly) c.7900C>G (p.Arg2634Gly) c.7858C>G (p.Arg2620Gly) | |
8 | g.133133591C>T | CA186356815 | TG | c.8119C>T (p.Arg2707Ter) c.3485C>T c.2518C>T (p.Arg840Ter) c.331C>T (p.Arg111Ter) n.205C>T c.4774C>T c.7927C>T (p.Arg2643Ter) c.8056C>T (p.Arg2686Ter) c.8053C>T (p.Arg2685Ter) c.7984C>T (p.Arg2662Ter) c.7948C>T (p.Arg2650Ter) c.7900C>T (p.Arg2634Ter) c.7858C>T (p.Arg2620Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.133133592G>A | CA4885898 | TG | c.8120G>A (p.Arg2707Gln) c.3486G>A c.2519G>A (p.Arg840Gln) c.332G>A (p.Arg111Gln) n.206G>A c.4775G>A c.7928G>A (p.Arg2643Gln) c.8057G>A (p.Arg2686Gln) c.8054G>A (p.Arg2685Gln) c.7985G>A (p.Arg2662Gln) c.7949G>A (p.Arg2650Gln) c.7901G>A (p.Arg2634Gln) c.7859G>A (p.Arg2620Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133592G>C | CA372253453 | TG | c.8120G>C (p.Arg2707Pro) c.3486G>C c.2519G>C (p.Arg840Pro) c.332G>C (p.Arg111Pro) n.206G>C c.4775G>C c.7928G>C (p.Arg2643Pro) c.8057G>C (p.Arg2686Pro) c.8054G>C (p.Arg2685Pro) c.7985G>C (p.Arg2662Pro) c.7949G>C (p.Arg2650Pro) c.7901G>C (p.Arg2634Pro) c.7859G>C (p.Arg2620Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133592G= | CA1821104948 | TG | c.8120G= (p.Arg2707=) c.3486G= c.2519G= (p.Arg840=) c.332G= (p.Arg111=) n.206G= c.4775G= c.7928G= (p.Arg2643=) c.8057G= (p.Arg2686=) c.8054G= (p.Arg2685=) c.7985G= (p.Arg2662=) c.7949G= (p.Arg2650=) c.7901G= (p.Arg2634=) c.7859G= (p.Arg2620=) | |
8 | g.133133592G>T | CA372253455 | TG | c.8120G>T (p.Arg2707Leu) c.3486G>T c.2519G>T (p.Arg840Leu) c.332G>T (p.Arg111Leu) n.206G>T c.4775G>T c.7928G>T (p.Arg2643Leu) c.8057G>T (p.Arg2686Leu) c.8054G>T (p.Arg2685Leu) c.7985G>T (p.Arg2662Leu) c.7949G>T (p.Arg2650Leu) c.7901G>T (p.Arg2634Leu) c.7859G>T (p.Arg2620Leu) | gnomAD v4 |
8 | g.133133593A>C | CA463017206 | TG | c.8121A>C (p.Arg2707=) c.3487A>C c.2520A>C (p.Arg840=) c.333A>C (p.Arg111=) n.207A>C c.4776A>C c.7929A>C (p.Arg2643=) c.8058A>C (p.Arg2686=) c.8055A>C (p.Arg2685=) c.7986A>C (p.Arg2662=) c.7950A>C (p.Arg2650=) c.7902A>C (p.Arg2634=) c.7860A>C (p.Arg2620=) | |
8 | g.133133593A>G | CA463017205 | TG | c.8121A>G (p.Arg2707=) c.3487A>G c.2520A>G (p.Arg840=) c.333A>G (p.Arg111=) n.207A>G c.4776A>G c.7929A>G (p.Arg2643=) c.8058A>G (p.Arg2686=) c.8055A>G (p.Arg2685=) c.7986A>G (p.Arg2662=) c.7950A>G (p.Arg2650=) c.7902A>G (p.Arg2634=) c.7860A>G (p.Arg2620=) | |
8 | g.133133593A>T | CA463017207 | TG | c.8121A>T (p.Arg2707=) c.3487A>T c.2520A>T (p.Arg840=) c.333A>T (p.Arg111=) n.207A>T c.4776A>T c.7929A>T (p.Arg2643=) c.8058A>T (p.Arg2686=) c.8055A>T (p.Arg2685=) c.7986A>T (p.Arg2662=) c.7950A>T (p.Arg2650=) c.7902A>T (p.Arg2634=) c.7860A>T (p.Arg2620=) | |
8 | g.133133594C>A | CA372253456 | TG | c.8122C>A (p.Gln2708Lys) c.3488C>A c.2521C>A (p.Gln841Lys) c.334C>A (p.Gln112Lys) n.208C>A c.4777C>A c.7930C>A (p.Gln2644Lys) c.8059C>A (p.Gln2687Lys) c.8056C>A (p.Gln2686Lys) c.7987C>A (p.Gln2663Lys) c.7951C>A (p.Gln2651Lys) c.7903C>A (p.Gln2635Lys) c.7861C>A (p.Gln2621Lys) | |
8 | g.133133594C= | CA1821104949 | TG | c.8122C= (p.Gln2708=) c.3488C= c.2521C= (p.Gln841=) c.334C= (p.Gln112=) n.208C= c.4777C= c.7930C= (p.Gln2644=) c.8059C= (p.Gln2687=) c.8056C= (p.Gln2686=) c.7987C= (p.Gln2663=) c.7951C= (p.Gln2651=) c.7903C= (p.Gln2635=) c.7861C= (p.Gln2621=) | |
8 | g.133133594C>G | CA372253458 | TG | c.8122C>G (p.Gln2708Glu) c.3488C>G c.2521C>G (p.Gln841Glu) c.334C>G (p.Gln112Glu) n.208C>G c.4777C>G c.7930C>G (p.Gln2644Glu) c.8059C>G (p.Gln2687Glu) c.8056C>G (p.Gln2686Glu) c.7987C>G (p.Gln2663Glu) c.7951C>G (p.Gln2651Glu) c.7903C>G (p.Gln2635Glu) c.7861C>G (p.Gln2621Glu) | |
8 | g.133133594C>T | CA4885899 | TG | c.8122C>T (p.Gln2708Ter) c.3488C>T c.2521C>T (p.Gln841Ter) c.334C>T (p.Gln112Ter) n.208C>T c.4777C>T c.7930C>T (p.Gln2644Ter) c.8059C>T (p.Gln2687Ter) c.8056C>T (p.Gln2686Ter) c.7987C>T (p.Gln2663Ter) c.7951C>T (p.Gln2651Ter) c.7903C>T (p.Gln2635Ter) c.7861C>T (p.Gln2621Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133595A>C | CA372253460 | TG | c.8123A>C (p.Gln2708Pro) c.3489A>C c.2522A>C (p.Gln841Pro) c.335A>C (p.Gln112Pro) n.209A>C c.4778A>C c.7931A>C (p.Gln2644Pro) c.8060A>C (p.Gln2687Pro) c.8057A>C (p.Gln2686Pro) c.7988A>C (p.Gln2663Pro) c.7952A>C (p.Gln2651Pro) c.7904A>C (p.Gln2635Pro) c.7862A>C (p.Gln2621Pro) | |
8 | g.133133595A>G | CA372253461 | TG | c.8123A>G (p.Gln2708Arg) c.3489A>G c.2522A>G (p.Gln841Arg) c.335A>G (p.Gln112Arg) n.209A>G c.4778A>G c.7931A>G (p.Gln2644Arg) c.8060A>G (p.Gln2687Arg) c.8057A>G (p.Gln2686Arg) c.7988A>G (p.Gln2663Arg) c.7952A>G (p.Gln2651Arg) c.7904A>G (p.Gln2635Arg) c.7862A>G (p.Gln2621Arg) | |
8 | g.133133595A>T | CA372253463 | TG | c.8123A>T (p.Gln2708Leu) c.3489A>T c.2522A>T (p.Gln841Leu) c.335A>T (p.Gln112Leu) n.209A>T c.4778A>T c.7931A>T (p.Gln2644Leu) c.8060A>T (p.Gln2687Leu) c.8057A>T (p.Gln2686Leu) c.7988A>T (p.Gln2663Leu) c.7952A>T (p.Gln2651Leu) c.7904A>T (p.Gln2635Leu) c.7862A>T (p.Gln2621Leu) | |
8 | g.133133596G>A | CA4885900 | TG | c.8124G>A (p.Gln2708=) c.3490G>A c.2523G>A (p.Gln841=) c.336G>A (p.Gln112=) n.210G>A c.4779G>A c.7932G>A (p.Gln2644=) c.8061G>A (p.Gln2687=) c.8058G>A (p.Gln2686=) c.7989G>A (p.Gln2663=) c.7953G>A (p.Gln2651=) c.7905G>A (p.Gln2635=) c.7863G>A (p.Gln2621=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133596G>C | CA372253466 | TG | c.8124G>C (p.Gln2708His) c.3490G>C c.2523G>C (p.Gln841His) c.336G>C (p.Gln112His) n.210G>C c.4779G>C c.7932G>C (p.Gln2644His) c.8061G>C (p.Gln2687His) c.8058G>C (p.Gln2686His) c.7989G>C (p.Gln2663His) c.7953G>C (p.Gln2651His) c.7905G>C (p.Gln2635His) c.7863G>C (p.Gln2621His) | |
8 | g.133133596G= | CA1821104950 | TG | c.8124G= (p.Gln2708=) c.3490G= c.2523G= (p.Gln841=) c.336G= (p.Gln112=) n.210G= c.4779G= c.7932G= (p.Gln2644=) c.8061G= (p.Gln2687=) c.8058G= (p.Gln2686=) c.7989G= (p.Gln2663=) c.7953G= (p.Gln2651=) c.7905G= (p.Gln2635=) c.7863G= (p.Gln2621=) | |
8 | g.133133596G>T | CA372253467 | TG | c.8124G>T (p.Gln2708His) c.3490G>T c.2523G>T (p.Gln841His) c.336G>T (p.Gln112His) n.210G>T c.4779G>T c.7932G>T (p.Gln2644His) c.8061G>T (p.Gln2687His) c.8058G>T (p.Gln2686His) c.7989G>T (p.Gln2663His) c.7953G>T (p.Gln2651His) c.7905G>T (p.Gln2635His) c.7863G>T (p.Gln2621His) | |
8 | g.133133597G>A | CA372253473 | TG | c.8125G>A (p.Gly2709Ser) c.3491G>A c.2524G>A (p.Gly842Ser) c.337G>A (p.Gly113Ser) n.211G>A c.4780G>A c.7933G>A (p.Gly2645Ser) c.8062G>A (p.Gly2688Ser) c.8059G>A (p.Gly2687Ser) c.7990G>A (p.Gly2664Ser) c.7954G>A (p.Gly2652Ser) c.7906G>A (p.Gly2636Ser) c.7864G>A (p.Gly2622Ser) | |
8 | g.133133597G>C | CA372253471 | TG | c.8125G>C (p.Gly2709Arg) c.3491G>C c.2524G>C (p.Gly842Arg) c.337G>C (p.Gly113Arg) n.211G>C c.4780G>C c.7933G>C (p.Gly2645Arg) c.8062G>C (p.Gly2688Arg) c.8059G>C (p.Gly2687Arg) c.7990G>C (p.Gly2664Arg) c.7954G>C (p.Gly2652Arg) c.7906G>C (p.Gly2636Arg) c.7864G>C (p.Gly2622Arg) | |
8 | g.133133597G>T | CA372253469 | TG | c.8125G>T (p.Gly2709Cys) c.3491G>T c.2524G>T (p.Gly842Cys) c.337G>T (p.Gly113Cys) n.211G>T c.4780G>T c.7933G>T (p.Gly2645Cys) c.8062G>T (p.Gly2688Cys) c.8059G>T (p.Gly2687Cys) c.7990G>T (p.Gly2664Cys) c.7954G>T (p.Gly2652Cys) c.7906G>T (p.Gly2636Cys) c.7864G>T (p.Gly2622Cys) | |
8 | g.133133598G>A | CA372253475 | TG | c.8126G>A (p.Gly2709Asp) c.3492G>A c.2525G>A (p.Gly842Asp) c.338G>A (p.Gly113Asp) n.212G>A c.4781G>A c.7934G>A (p.Gly2645Asp) c.8063G>A (p.Gly2688Asp) c.8060G>A (p.Gly2687Asp) c.7991G>A (p.Gly2664Asp) c.7955G>A (p.Gly2652Asp) c.7907G>A (p.Gly2636Asp) c.7865G>A (p.Gly2622Asp) | |
8 | g.133133598G>C | CA372253478 | TG | c.8126G>C (p.Gly2709Ala) c.3492G>C c.2525G>C (p.Gly842Ala) c.338G>C (p.Gly113Ala) n.212G>C c.4781G>C c.7934G>C (p.Gly2645Ala) c.8063G>C (p.Gly2688Ala) c.8060G>C (p.Gly2687Ala) c.7991G>C (p.Gly2664Ala) c.7955G>C (p.Gly2652Ala) c.7907G>C (p.Gly2636Ala) c.7865G>C (p.Gly2622Ala) | |
8 | g.133133598G= | CA1821104951 | TG | c.8126G= (p.Gly2709=) c.3492G= c.2525G= (p.Gly842=) c.338G= (p.Gly113=) n.212G= c.4781G= c.7934G= (p.Gly2645=) c.8063G= (p.Gly2688=) c.8060G= (p.Gly2687=) c.7991G= (p.Gly2664=) c.7955G= (p.Gly2652=) c.7907G= (p.Gly2636=) c.7865G= (p.Gly2622=) | |
8 | g.133133598G>T | CA372253479 | TG | c.8126G>T (p.Gly2709Val) c.3492G>T c.2525G>T (p.Gly842Val) c.338G>T (p.Gly113Val) n.212G>T c.4781G>T c.7934G>T (p.Gly2645Val) c.8063G>T (p.Gly2688Val) c.8060G>T (p.Gly2687Val) c.7991G>T (p.Gly2664Val) c.7955G>T (p.Gly2652Val) c.7907G>T (p.Gly2636Val) c.7865G>T (p.Gly2622Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.133133599C>A | CA463017213 | TG | c.8127C>A (p.Gly2709=) c.3493C>A c.2526C>A (p.Gly842=) c.339C>A (p.Gly113=) n.213C>A c.4782C>A c.7935C>A (p.Gly2645=) c.8064C>A (p.Gly2688=) c.8061C>A (p.Gly2687=) c.7992C>A (p.Gly2664=) c.7956C>A (p.Gly2652=) c.7908C>A (p.Gly2636=) c.7866C>A (p.Gly2622=) | |
8 | g.133133599C>G | CA463017214 | TG | c.8127C>G (p.Gly2709=) c.3493C>G c.2526C>G (p.Gly842=) c.339C>G (p.Gly113=) n.213C>G c.4782C>G c.7935C>G (p.Gly2645=) c.8064C>G (p.Gly2688=) c.8061C>G (p.Gly2687=) c.7992C>G (p.Gly2664=) c.7956C>G (p.Gly2652=) c.7908C>G (p.Gly2636=) c.7866C>G (p.Gly2622=) | |
8 | g.133133599C>T | CA463017216 | TG | c.8127C>T (p.Gly2709=) c.3493C>T c.2526C>T (p.Gly842=) c.339C>T (p.Gly113=) n.213C>T c.4782C>T c.7935C>T (p.Gly2645=) c.8064C>T (p.Gly2688=) c.8061C>T (p.Gly2687=) c.7992C>T (p.Gly2664=) c.7956C>T (p.Gly2652=) c.7908C>T (p.Gly2636=) c.7866C>T (p.Gly2622=) | |
8 | g.133133600C>A | CA372253481 | TG | c.8128C>A (p.Leu2710Met) c.3494C>A c.2527C>A (p.Leu843Met) c.340C>A (p.Leu114Met) n.214C>A c.4783C>A c.7936C>A (p.Leu2646Met) c.8065C>A (p.Leu2689Met) c.8062C>A (p.Leu2688Met) c.7993C>A (p.Leu2665Met) c.7957C>A (p.Leu2653Met) c.7909C>A (p.Leu2637Met) c.7867C>A (p.Leu2623Met) | |
8 | g.133133600C>G | CA372253483 | TG | c.8128C>G (p.Leu2710Val) c.3494C>G c.2527C>G (p.Leu843Val) c.340C>G (p.Leu114Val) n.214C>G c.4783C>G c.7936C>G (p.Leu2646Val) c.8065C>G (p.Leu2689Val) c.8062C>G (p.Leu2688Val) c.7993C>G (p.Leu2665Val) c.7957C>G (p.Leu2653Val) c.7909C>G (p.Leu2637Val) c.7867C>G (p.Leu2623Val) | |
8 | g.133133600C>T | CA463017217 | TG | c.8128C>T (p.Leu2710=) c.3494C>T c.2527C>T (p.Leu843=) c.340C>T (p.Leu114=) n.214C>T c.4783C>T c.7936C>T (p.Leu2646=) c.8065C>T (p.Leu2689=) c.8062C>T (p.Leu2688=) c.7993C>T (p.Leu2665=) c.7957C>T (p.Leu2653=) c.7909C>T (p.Leu2637=) c.7867C>T (p.Leu2623=) | |
8 | g.133133601T>A | CA372253485 | TG | c.8129T>A (p.Leu2710Gln) c.3495T>A c.2528T>A (p.Leu843Gln) c.341T>A (p.Leu114Gln) n.215T>A c.4784T>A c.7937T>A (p.Leu2646Gln) c.8066T>A (p.Leu2689Gln) c.8063T>A (p.Leu2688Gln) c.7994T>A (p.Leu2665Gln) c.7958T>A (p.Leu2653Gln) c.7910T>A (p.Leu2637Gln) c.7868T>A (p.Leu2623Gln) | |
8 | g.133133601T>C | CA372253486 | TG | c.8129T>C (p.Leu2710Pro) c.3495T>C c.2528T>C (p.Leu843Pro) c.341T>C (p.Leu114Pro) n.215T>C c.4784T>C c.7937T>C (p.Leu2646Pro) c.8066T>C (p.Leu2689Pro) c.8063T>C (p.Leu2688Pro) c.7994T>C (p.Leu2665Pro) c.7958T>C (p.Leu2653Pro) c.7910T>C (p.Leu2637Pro) c.7868T>C (p.Leu2623Pro) | |
8 | g.133133601T>G | CA4885901 | TG | c.8129T>G (p.Leu2710Arg) c.3495T>G c.2528T>G (p.Leu843Arg) c.341T>G (p.Leu114Arg) n.215T>G c.4784T>G c.7937T>G (p.Leu2646Arg) c.8066T>G (p.Leu2689Arg) c.8063T>G (p.Leu2688Arg) c.7994T>G (p.Leu2665Arg) c.7958T>G (p.Leu2653Arg) c.7910T>G (p.Leu2637Arg) c.7868T>G (p.Leu2623Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.133133601T= | CA1821104952 | TG | c.8129T= (p.Leu2710=) c.3495T= c.2528T= (p.Leu843=) c.341T= (p.Leu114=) n.215T= c.4784T= c.7937T= (p.Leu2646=) c.8066T= (p.Leu2689=) c.8063T= (p.Leu2688=) c.7994T= (p.Leu2665=) c.7958T= (p.Leu2653=) c.7910T= (p.Leu2637=) c.7868T= (p.Leu2623=) | |
8 | g.133133602G>A | CA463017220 | TG | c.8130G>A (p.Leu2710=) c.3496G>A c.2529G>A (p.Leu843=) c.342G>A (p.Leu114=) n.216G>A c.4785G>A c.7938G>A (p.Leu2646=) c.8067G>A (p.Leu2689=) c.8064G>A (p.Leu2688=) c.7995G>A (p.Leu2665=) c.7959G>A (p.Leu2653=) c.7911G>A (p.Leu2637=) c.7869G>A (p.Leu2623=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.133133602G>C | CA463017221 | TG | c.8130G>C (p.Leu2710=) c.3496G>C c.2529G>C (p.Leu843=) c.342G>C (p.Leu114=) n.216G>C c.4785G>C c.7938G>C (p.Leu2646=) c.8067G>C (p.Leu2689=) c.8064G>C (p.Leu2688=) c.7995G>C (p.Leu2665=) c.7959G>C (p.Leu2653=) c.7911G>C (p.Leu2637=) c.7869G>C (p.Leu2623=) | |
8 | g.133133602G= | CA1821104953 | TG | c.8130G= (p.Leu2710=) c.3496G= c.2529G= (p.Leu843=) c.342G= (p.Leu114=) n.216G= c.4785G= c.7938G= (p.Leu2646=) c.8067G= (p.Leu2689=) c.8064G= (p.Leu2688=) c.7995G= (p.Leu2665=) c.7959G= (p.Leu2653=) c.7911G= (p.Leu2637=) c.7869G= (p.Leu2623=) | |
8 | g.133133602G>T | CA463017222 | TG | c.8130G>T (p.Leu2710=) c.3496G>T c.2529G>T (p.Leu843=) c.342G>T (p.Leu114=) n.216G>T c.4785G>T c.7938G>T (p.Leu2646=) c.8067G>T (p.Leu2689=) c.8064G>T (p.Leu2688=) c.7995G>T (p.Leu2665=) c.7959G>T (p.Leu2653=) c.7911G>T (p.Leu2637=) c.7869G>T (p.Leu2623=) | |
8 | g.133133603A>C | CA372253488 | TG | c.8131A>C (p.Lys2711Gln) c.3497A>C c.2530A>C (p.Lys844Gln) c.343A>C (p.Lys115Gln) n.217A>C c.4786A>C c.7939A>C (p.Lys2647Gln) c.8068A>C (p.Lys2690Gln) c.8065A>C (p.Lys2689Gln) c.7996A>C (p.Lys2666Gln) c.7960A>C (p.Lys2654Gln) c.7912A>C (p.Lys2638Gln) c.7870A>C (p.Lys2624Gln) | |
8 | g.133133603A>G | CA372253490 | TG | c.8131A>G (p.Lys2711Glu) c.3497A>G c.2530A>G (p.Lys844Glu) c.343A>G (p.Lys115Glu) n.217A>G c.4786A>G c.7939A>G (p.Lys2647Glu) c.8068A>G (p.Lys2690Glu) c.8065A>G (p.Lys2689Glu) c.7996A>G (p.Lys2666Glu) c.7960A>G (p.Lys2654Glu) c.7912A>G (p.Lys2638Glu) c.7870A>G (p.Lys2624Glu) | |
8 | g.133133603A>T | CA372253492 | TG | c.8131A>T (p.Lys2711Ter) c.3497A>T c.2530A>T (p.Lys844Ter) c.343A>T (p.Lys115Ter) n.217A>T c.4786A>T c.7939A>T (p.Lys2647Ter) c.8068A>T (p.Lys2690Ter) c.8065A>T (p.Lys2689Ter) c.7996A>T (p.Lys2666Ter) c.7960A>T (p.Lys2654Ter) c.7912A>T (p.Lys2638Ter) c.7870A>T (p.Lys2624Ter) | COSMIC |
8 | g.133133604A>C | CA372253494 | TG | c.8132A>C (p.Lys2711Thr) c.3498A>C c.2531A>C (p.Lys844Thr) c.344A>C (p.Lys115Thr) n.218A>C c.4787A>C c.7940A>C (p.Lys2647Thr) c.8069A>C (p.Lys2690Thr) c.8066A>C (p.Lys2689Thr) c.7997A>C (p.Lys2666Thr) c.7961A>C (p.Lys2654Thr) c.7913A>C (p.Lys2638Thr) c.7871A>C (p.Lys2624Thr) | |
8 | g.133133604A>G | CA372253496 | TG | c.8132A>G (p.Lys2711Arg) c.3498A>G c.2531A>G (p.Lys844Arg) c.344A>G (p.Lys115Arg) n.218A>G c.4787A>G c.7940A>G (p.Lys2647Arg) c.8069A>G (p.Lys2690Arg) c.8066A>G (p.Lys2689Arg) c.7997A>G (p.Lys2666Arg) c.7961A>G (p.Lys2654Arg) c.7913A>G (p.Lys2638Arg) c.7871A>G (p.Lys2624Arg) | |
8 | g.133133604A>T | CA372253497 | TG | c.8132A>T (p.Lys2711Met) c.3498A>T c.2531A>T (p.Lys844Met) c.344A>T (p.Lys115Met) n.218A>T c.4787A>T c.7940A>T (p.Lys2647Met) c.8069A>T (p.Lys2690Met) c.8066A>T (p.Lys2689Met) c.7997A>T (p.Lys2666Met) c.7961A>T (p.Lys2654Met) c.7913A>T (p.Lys2638Met) c.7871A>T (p.Lys2624Met) | |
8 | g.133133605G>A | CA463017224 | TG | c.8133G>A (p.Lys2711=) c.3499G>A c.2532G>A (p.Lys844=) c.345G>A (p.Lys115=) n.219G>A c.4788G>A c.7941G>A (p.Lys2647=) c.8070G>A (p.Lys2690=) c.8067G>A (p.Lys2689=) c.7998G>A (p.Lys2666=) c.7962G>A (p.Lys2654=) c.7914G>A (p.Lys2638=) c.7872G>A (p.Lys2624=) | |
8 | g.133133605G>C | CA372253498 | TG | c.8133G>C (p.Lys2711Asn) c.3499G>C c.2532G>C (p.Lys844Asn) c.345G>C (p.Lys115Asn) n.219G>C c.4788G>C c.7941G>C (p.Lys2647Asn) c.8070G>C (p.Lys2690Asn) c.8067G>C (p.Lys2689Asn) c.7998G>C (p.Lys2666Asn) c.7962G>C (p.Lys2654Asn) c.7914G>C (p.Lys2638Asn) c.7872G>C (p.Lys2624Asn) | |
8 | g.133133605G>T | CA372253502 | TG | c.8133G>T (p.Lys2711Asn) c.3499G>T c.2532G>T (p.Lys844Asn) c.345G>T (p.Lys115Asn) n.219G>T c.4788G>T c.7941G>T (p.Lys2647Asn) c.8070G>T (p.Lys2690Asn) c.8067G>T (p.Lys2689Asn) c.7998G>T (p.Lys2666Asn) c.7962G>T (p.Lys2654Asn) c.7914G>T (p.Lys2638Asn) c.7872G>T (p.Lys2624Asn) | |
8 | g.133133606A>C | CA372253505 | TG | c.8134A>C (p.Lys2712Gln) c.3500A>C c.2533A>C (p.Lys845Gln) c.346A>C (p.Lys116Gln) n.220A>C c.4789A>C c.7942A>C (p.Lys2648Gln) c.8071A>C (p.Lys2691Gln) c.8068A>C (p.Lys2690Gln) c.7999A>C (p.Lys2667Gln) c.7963A>C (p.Lys2655Gln) c.7915A>C (p.Lys2639Gln) c.7873A>C (p.Lys2625Gln) | |
8 | g.133133606A>G | CA372253509 | TG | c.8134A>G (p.Lys2712Glu) c.3500A>G c.2533A>G (p.Lys845Glu) c.346A>G (p.Lys116Glu) n.220A>G c.4789A>G c.7942A>G (p.Lys2648Glu) c.8071A>G (p.Lys2691Glu) c.8068A>G (p.Lys2690Glu) c.7999A>G (p.Lys2667Glu) c.7963A>G (p.Lys2655Glu) c.7915A>G (p.Lys2639Glu) c.7873A>G (p.Lys2625Glu) | |
8 | g.133133606A>T | CA372253511 | TG | c.8134A>T (p.Lys2712Ter) c.3500A>T c.2533A>T (p.Lys845Ter) c.346A>T (p.Lys116Ter) n.220A>T c.4789A>T c.7942A>T (p.Lys2648Ter) c.8071A>T (p.Lys2691Ter) c.8068A>T (p.Lys2690Ter) c.7999A>T (p.Lys2667Ter) c.7963A>T (p.Lys2655Ter) c.7915A>T (p.Lys2639Ter) c.7873A>T (p.Lys2625Ter) | |
8 | g.133133607A>C | CA372253513 | TG | c.8135A>C (p.Lys2712Thr) c.3501A>C c.2534A>C (p.Lys845Thr) c.347A>C (p.Lys116Thr) n.221A>C c.4790A>C c.7943A>C (p.Lys2648Thr) c.8072A>C (p.Lys2691Thr) c.8069A>C (p.Lys2690Thr) c.8000A>C (p.Lys2667Thr) c.7964A>C (p.Lys2655Thr) c.7916A>C (p.Lys2639Thr) c.7874A>C (p.Lys2625Thr) | gnomAD v4 |
8 | g.133133607A>G | CA372253514 | TG | c.8135A>G (p.Lys2712Arg) c.3501A>G c.2534A>G (p.Lys845Arg) c.347A>G (p.Lys116Arg) n.221A>G c.4790A>G c.7943A>G (p.Lys2648Arg) c.8072A>G (p.Lys2691Arg) c.8069A>G (p.Lys2690Arg) c.8000A>G (p.Lys2667Arg) c.7964A>G (p.Lys2655Arg) c.7916A>G (p.Lys2639Arg) c.7874A>G (p.Lys2625Arg) | |
8 | g.133133607A>T | CA372253516 | TG | c.8135A>T (p.Lys2712Ile) c.3501A>T c.2534A>T (p.Lys845Ile) c.347A>T (p.Lys116Ile) n.221A>T c.4790A>T c.7943A>T (p.Lys2648Ile) c.8072A>T (p.Lys2691Ile) c.8069A>T (p.Lys2690Ile) c.8000A>T (p.Lys2667Ile) c.7964A>T (p.Lys2655Ile) c.7916A>T (p.Lys2639Ile) c.7874A>T (p.Lys2625Ile) | |
8 | g.133133608A>C | CA372253519 | TG | c.8136A>C (p.Lys2712Asn) c.3502A>C c.2535A>C (p.Lys845Asn) c.348A>C (p.Lys116Asn) n.222A>C c.4791A>C c.7944A>C (p.Lys2648Asn) c.8073A>C (p.Lys2691Asn) c.8070A>C (p.Lys2690Asn) c.8001A>C (p.Lys2667Asn) c.7965A>C (p.Lys2655Asn) c.7917A>C (p.Lys2639Asn) c.7875A>C (p.Lys2625Asn) | |
8 | g.133133608A>G | CA463017232 | TG | c.8136A>G (p.Lys2712=) c.3502A>G c.2535A>G (p.Lys845=) c.348A>G (p.Lys116=) n.222A>G c.4791A>G c.7944A>G (p.Lys2648=) c.8073A>G (p.Lys2691=) c.8070A>G (p.Lys2690=) c.8001A>G (p.Lys2667=) c.7965A>G (p.Lys2655=) c.7917A>G (p.Lys2639=) c.7875A>G (p.Lys2625=) | |
8 | g.133133608A>T | CA372253522 | TG | c.8136A>T (p.Lys2712Asn) c.3502A>T c.2535A>T (p.Lys845Asn) c.348A>T (p.Lys116Asn) n.222A>T c.4791A>T c.7944A>T (p.Lys2648Asn) c.8073A>T (p.Lys2691Asn) c.8070A>T (p.Lys2690Asn) c.8001A>T (p.Lys2667Asn) c.7965A>T (p.Lys2655Asn) c.7917A>T (p.Lys2639Asn) c.7875A>T (p.Lys2625Asn) | gnomAD v4 |
8 | g.133133609G>A | CA4885902 | TG | c.8137G>A (p.Ala2713Thr) c.3503G>A c.2536G>A (p.Ala846Thr) c.349G>A (p.Ala117Thr) n.223G>A c.4792G>A c.7945G>A (p.Ala2649Thr) c.8074G>A (p.Ala2692Thr) c.8071G>A (p.Ala2691Thr) c.8002G>A (p.Ala2668Thr) c.7966G>A (p.Ala2656Thr) c.7918G>A (p.Ala2640Thr) c.7876G>A (p.Ala2626Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.133133609G>C | CA372253523 | TG | c.8137G>C (p.Ala2713Pro) c.3503G>C c.2536G>C (p.Ala846Pro) c.349G>C (p.Ala117Pro) n.223G>C c.4792G>C c.7945G>C (p.Ala2649Pro) c.8074G>C (p.Ala2692Pro) c.8071G>C (p.Ala2691Pro) c.8002G>C (p.Ala2668Pro) c.7966G>C (p.Ala2656Pro) c.7918G>C (p.Ala2640Pro) c.7876G>C (p.Ala2626Pro) | dbSNP |
8 | g.133133609G= | CA1821104954 | TG | c.8137G= (p.Ala2713=) c.3503G= c.2536G= (p.Ala846=) c.349G= (p.Ala117=) n.223G= c.4792G= c.7945G= (p.Ala2649=) c.8074G= (p.Ala2692=) c.8071G= (p.Ala2691=) c.8002G= (p.Ala2668=) c.7966G= (p.Ala2656=) c.7918G= (p.Ala2640=) c.7876G= (p.Ala2626=) | |
8 | g.133133609G>T | CA372253524 | TG | c.8137G>T (p.Ala2713Ser) c.3503G>T c.2536G>T (p.Ala846Ser) c.349G>T (p.Ala117Ser) n.223G>T c.4792G>T c.7945G>T (p.Ala2649Ser) c.8074G>T (p.Ala2692Ser) c.8071G>T (p.Ala2691Ser) c.8002G>T (p.Ala2668Ser) c.7966G>T (p.Ala2656Ser) c.7918G>T (p.Ala2640Ser) c.7876G>T (p.Ala2626Ser) | gnomAD v4 |
8 | g.133133610C>A | CA372253527 | TG | c.8138C>A (p.Ala2713Asp) c.3504C>A c.2537C>A (p.Ala846Asp) c.350C>A (p.Ala117Asp) n.224C>A c.4793C>A c.7946C>A (p.Ala2649Asp) c.8075C>A (p.Ala2692Asp) c.8072C>A (p.Ala2691Asp) c.8003C>A (p.Ala2668Asp) c.7967C>A (p.Ala2656Asp) c.7919C>A (p.Ala2640Asp) c.7877C>A (p.Ala2626Asp) | |
8 | g.133133610C>G | CA372253526 | TG | c.8138C>G (p.Ala2713Gly) c.3504C>G c.2537C>G (p.Ala846Gly) c.350C>G (p.Ala117Gly) n.224C>G c.4793C>G c.7946C>G (p.Ala2649Gly) c.8075C>G (p.Ala2692Gly) c.8072C>G (p.Ala2691Gly) c.8003C>G (p.Ala2668Gly) c.7967C>G (p.Ala2656Gly) c.7919C>G (p.Ala2640Gly) c.7877C>G (p.Ala2626Gly) | |
8 | g.133133610C>T | CA372253525 | TG | c.8138C>T (p.Ala2713Val) c.3504C>T c.2537C>T (p.Ala846Val) c.350C>T (p.Ala117Val) n.224C>T c.4793C>T c.7946C>T (p.Ala2649Val) c.8075C>T (p.Ala2692Val) c.8072C>T (p.Ala2691Val) c.8003C>T (p.Ala2668Val) c.7967C>T (p.Ala2656Val) c.7919C>T (p.Ala2640Val) c.7877C>T (p.Ala2626Val) | |
8 | g.133133611C>A | CA463017235 | TG | c.8139C>A (p.Ala2713=) c.3505C>A c.2538C>A (p.Ala846=) c.351C>A (p.Ala117=) n.225C>A c.4794C>A c.7947C>A (p.Ala2649=) c.8076C>A (p.Ala2692=) c.8073C>A (p.Ala2691=) c.8004C>A (p.Ala2668=) c.7968C>A (p.Ala2656=) c.7920C>A (p.Ala2640=) c.7878C>A (p.Ala2626=) | |
8 | g.133133611C= | CA1821104955 | TG | c.8139C= (p.Ala2713=) c.3505C= c.2538C= (p.Ala846=) c.351C= (p.Ala117=) n.225C= c.4794C= c.7947C= (p.Ala2649=) c.8076C= (p.Ala2692=) c.8073C= (p.Ala2691=) c.8004C= (p.Ala2668=) c.7968C= (p.Ala2656=) c.7920C= (p.Ala2640=) c.7878C= (p.Ala2626=) | |
8 | g.133133611C>G | CA463017237 | TG | c.8139C>G (p.Ala2713=) c.3505C>G c.2538C>G (p.Ala846=) c.351C>G (p.Ala117=) n.225C>G c.4794C>G c.7947C>G (p.Ala2649=) c.8076C>G (p.Ala2692=) c.8073C>G (p.Ala2691=) c.8004C>G (p.Ala2668=) c.7968C>G (p.Ala2656=) c.7920C>G (p.Ala2640=) c.7878C>G (p.Ala2626=) | |
8 | g.133133611C>T | CA4885903 | TG | c.8139C>T (p.Ala2713=) c.3505C>T c.2538C>T (p.Ala846=) c.351C>T (p.Ala117=) n.225C>T c.4794C>T c.7947C>T (p.Ala2649=) c.8076C>T (p.Ala2692=) c.8073C>T (p.Ala2691=) c.8004C>T (p.Ala2668=) c.7968C>T (p.Ala2656=) c.7920C>T (p.Ala2640=) c.7878C>T (p.Ala2626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |