Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.33438847_33438945del | CA2652478039 | SNTA1 | c.395_493del (p.Gly132_Leu164del) n.628_726del c.68_166del (p.Gly23_Leu55del) | gnomAD v4 |
20 | g.33438897G>A | CA9817226 | SNTA1 | c.440C>T (p.Thr147Ile) n.673C>T c.113C>T (p.Thr38Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438897G>C | CA408633410 | SNTA1 | c.440C>G (p.Thr147Ser) n.673C>G c.113C>G (p.Thr38Ser) | |
20 | g.33438897G= | CA2360753081 | SNTA1 | c.440C= (p.Thr147=) n.673C= c.113C= (p.Thr38=) | |
20 | g.33438897G>T | CA235722 | SNTA1 | c.440C>A (p.Thr147Asn) n.673C>A c.113C>A (p.Thr38Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438897_33438898delinsGT | CA2360753082 | SNTA1 | c.439_440delinsAC (p.Thr147=) n.672_673delinsAC c.112_113delinsAC (p.Thr38=) | |
20 | g.33438898del | CA743727207 | SNTA1 | c.439del (p.Thr147ProfsTer23) n.672del c.112del (p.Thr38ProfsTer23) | dbSNP |
20 | g.33438898T>A | CA408633413 | SNTA1 | c.439A>T (p.Thr147Ser) n.672A>T c.112A>T (p.Thr38Ser) | |
20 | g.33438898T>C | CA408633412 | SNTA1 | c.439A>G (p.Thr147Ala) n.672A>G c.112A>G (p.Thr38Ala) | |
20 | g.33438898T>G | CA408633411 | SNTA1 | c.439A>C (p.Thr147Pro) n.672A>C c.112A>C (p.Thr38Pro) | |
20 | g.33438899A>C | CA510252198 | SNTA1 | c.438T>G (p.Ala146=) n.671T>G c.111T>G (p.Ala37=) | |
20 | g.33438899A>G | CA510252200 | SNTA1 | c.438T>C (p.Ala146=) n.671T>C c.111T>C (p.Ala37=) | gnomAD v4 |
20 | g.33438899A>T | CA510252199 | SNTA1 | c.438T>A (p.Ala146=) n.671T>A c.111T>A (p.Ala37=) | |
20 | g.33438900G>A | CA408633414 | SNTA1 | c.437C>T (p.Ala146Val) n.670C>T c.110C>T (p.Ala37Val) | gnomAD v4 |
20 | g.33438900G>C | CA408633415 | SNTA1 | c.437C>G (p.Ala146Gly) n.670C>G c.110C>G (p.Ala37Gly) | |
20 | g.33438900G>T | CA408633416 | SNTA1 | c.437C>A (p.Ala146Asp) n.670C>A c.110C>A (p.Ala37Asp) | |
20 | g.33438901C>A | CA408633417 | SNTA1 | c.436G>T (p.Ala146Ser) n.669G>T c.109G>T (p.Ala37Ser) | |
20 | g.33438901C>G | CA408633418 | SNTA1 | c.436G>C (p.Ala146Pro) n.669G>C c.109G>C (p.Ala37Pro) | |
20 | g.33438901C>T | CA408633419 | SNTA1 | c.436G>A (p.Ala146Thr) n.669G>A c.109G>A (p.Ala37Thr) | |
20 | g.33438902A>C | CA510252203 | SNTA1 | c.435T>G (p.Ser145=) n.668T>G c.108T>G (p.Ser36=) | |
20 | g.33438902A>G | CA510252202 | SNTA1 | c.435T>C (p.Ser145=) n.668T>C c.108T>C (p.Ser36=) | |
20 | g.33438902A>T | CA510252201 | SNTA1 | c.435T>A (p.Ser145=) n.668T>A c.108T>A (p.Ser36=) | |
20 | g.33438903G>A | CA408633420 | SNTA1 | c.434C>T (p.Ser145Phe) n.667C>T c.107C>T (p.Ser36Phe) | |
20 | g.33438903G>C | CA408633421 | SNTA1 | c.434C>G (p.Ser145Cys) n.667C>G c.107C>G (p.Ser36Cys) | |
20 | g.33438903G>T | CA408633422 | SNTA1 | c.434C>A (p.Ser145Tyr) n.667C>A c.107C>A (p.Ser36Tyr) | |
20 | g.33438904A>C | CA408633423 | SNTA1 | c.433T>G (p.Ser145Ala) n.666T>G c.106T>G (p.Ser36Ala) | |
20 | g.33438904A>G | CA408633424 | SNTA1 | c.433T>C (p.Ser145Pro) n.666T>C c.106T>C (p.Ser36Pro) | |
20 | g.33438904A>T | CA408633425 | SNTA1 | c.433T>A (p.Ser145Thr) n.666T>A c.106T>A (p.Ser36Thr) | |
20 | g.33438905G>A | CA9817227 | SNTA1 | c.432C>T (p.Ser144=) n.665C>T c.105C>T (p.Ser35=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438905G>C | CA510252205 | SNTA1 | c.432C>G (p.Ser144=) n.665C>G c.105C>G (p.Ser35=) | |
20 | g.33438905G= | CA2360753083 | SNTA1 | c.432C= (p.Ser144=) n.665C= c.105C= (p.Ser35=) | |
20 | g.33438905G>T | CA510252204 | SNTA1 | c.432C>A (p.Ser144=) n.665C>A c.105C>A (p.Ser35=) | |
20 | g.33438906G>A | CA9817228 | SNTA1 | c.431C>T (p.Ser144Phe) n.664C>T c.104C>T (p.Ser35Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438906G>C | CA408633426 | SNTA1 | c.431C>G (p.Ser144Cys) n.664C>G c.104C>G (p.Ser35Cys) | |
20 | g.33438906G= | CA2360753084 | SNTA1 | c.431C= (p.Ser144=) n.664C= c.104C= (p.Ser35=) | |
20 | g.33438906G>T | CA408633427 | SNTA1 | c.431C>A (p.Ser144Tyr) n.664C>A c.104C>A (p.Ser35Tyr) | |
20 | g.33438907A= | CA2360753085 | SNTA1 | c.430T= (p.Ser144=) n.663T= c.103T= (p.Ser35=) | |
20 | g.33438907A>C | CA9817229 | SNTA1 | c.430T>G (p.Ser144Ala) n.663T>G c.103T>G (p.Ser35Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438907A>G | CA408633428 | SNTA1 | c.430T>C (p.Ser144Pro) n.663T>C c.103T>C (p.Ser35Pro) | |
20 | g.33438907A>T | CA408633429 | SNTA1 | c.430T>A (p.Ser144Thr) n.663T>A c.103T>A (p.Ser35Thr) | |
20 | g.33438908C>A | CA408633430 | SNTA1 | c.429G>T (p.Leu143Phe) n.662G>T c.102G>T (p.Leu34Phe) | |
20 | g.33438908C>G | CA408633431 | SNTA1 | c.429G>C (p.Leu143Phe) n.662G>C c.102G>C (p.Leu34Phe) | |
20 | g.33438908C>T | CA510252206 | SNTA1 | c.429G>A (p.Leu143=) n.662G>A c.102G>A (p.Leu34=) | |
20 | g.33438909A>C | CA408633432 | SNTA1 | c.428T>G (p.Leu143Trp) n.661T>G c.101T>G (p.Leu34Trp) | |
20 | g.33438909A>G | CA408633434 | SNTA1 | c.428T>C (p.Leu143Ser) n.661T>C c.101T>C (p.Leu34Ser) | |
20 | g.33438909A>T | CA408633433 | SNTA1 | c.428T>A (p.Leu143Ter) n.661T>A c.101T>A (p.Leu34Ter) | |
20 | g.33438910A>C | CA408633435 | SNTA1 | c.427T>G (p.Leu143Val) n.660T>G c.100T>G (p.Leu34Val) | |
20 | g.33438910A>G | CA510252207 | SNTA1 | c.427T>C (p.Leu143=) n.660T>C c.100T>C (p.Leu34=) | |
20 | g.33438910A>T | CA408633436 | SNTA1 | c.427T>A (p.Leu143Met) n.660T>A c.100T>A (p.Leu34Met) | |
20 | g.33438911G>A | CA510252208 | SNTA1 | c.426C>T (p.Asp142=) n.659C>T c.99C>T (p.Asp33=) |