Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.51026311_51028334del | CA1139657030 | NRXN1 | c.-59_772+1193del c.-59_871+62del | ClinVar |
2 | g.51028013G>A | CA1655535 | NRXN1 | c.261C>T (p.Gly87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028013G>C | CA426129375 | NRXN1 | c.261C>G (p.Gly87=) | |
2 | g.51028013G= | CA1249878789 | NRXN1 | c.261C= (p.Gly87=) | |
2 | g.51028013G>T | CA292602 | NRXN1 | c.261C>A (p.Gly87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028014C>A | CA346824359 | NRXN1 | c.260G>T (p.Gly87Val) | gnomAD v4 |
2 | g.51028014C>G | CA346824360 | NRXN1 | c.260G>C (p.Gly87Ala) | dbSNP gnomAD v4 |
2 | g.51028014C>T | CA346824361 | NRXN1 | c.260G>A (p.Gly87Asp) | gnomAD v4 |
2 | g.51028015C>A | CA346824362 | NRXN1 | c.259G>T (p.Gly87Cys) | gnomAD v4 |
2 | g.51028015C= | CA1249878790 | NRXN1 | c.259G= (p.Gly87=) | |
2 | g.51028015C>G | CA346824363 | NRXN1 | c.259G>C (p.Gly87Arg) | ClinVar dbSNP |
2 | g.51028015C>T | CA346824364 | NRXN1 | c.259G>A (p.Gly87Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51028016G>A | CA426129381 | NRXN1 | c.258C>T (p.Gly86=) | ClinVar dbSNP gnomAD v4 |
2 | g.51028016G>C | CA426129379 | NRXN1 | c.258C>G (p.Gly86=) | gnomAD v4 |
2 | g.51028016G>T | CA426129380 | NRXN1 | c.258C>A (p.Gly86=) | |
2 | g.51028017C>A | CA346824365 | NRXN1 | c.257G>T (p.Gly86Val) | |
2 | g.51028017C= | CA1249878791 | NRXN1 | c.257G= (p.Gly86=) | |
2 | g.51028017C>G | CA346824366 | NRXN1 | c.257G>C (p.Gly86Ala) | |
2 | g.51028017C>T | CA48054926 | NRXN1 | c.257G>A (p.Gly86Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028018C>A | CA346824367 | NRXN1 | c.256G>T (p.Gly86Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51028018C= | CA1249878792 | NRXN1 | c.256G= (p.Gly86=) | |
2 | g.51028018C>G | CA346824369 | NRXN1 | c.256G>C (p.Gly86Arg) | gnomAD v4 |
2 | g.51028018C>T | CA346824368 | NRXN1 | c.256G>A (p.Gly86Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028019G>A | CA426129384 | NRXN1 | c.255C>T (p.Arg85=) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028019G>C | CA426129385 | NRXN1 | c.255C>G (p.Arg85=) | dbSNP |
2 | g.51028019G= | CA1249878793 | NRXN1 | c.255C= (p.Arg85=) | |
2 | g.51028019G>T | CA426129386 | NRXN1 | c.255C>A (p.Arg85=) | gnomAD v4 |
2 | g.51028020C>A | CA346824370 | NRXN1 | c.254G>T (p.Arg85Leu) | gnomAD v4 |
2 | g.51028020C= | CA1249878794 | NRXN1 | c.254G= (p.Arg85=) | |
2 | g.51028020C>G | CA346824371 | NRXN1 | c.254G>C (p.Arg85Pro) | |
2 | g.51028020C>T | CA48054927 | NRXN1 | c.254G>A (p.Arg85His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028021G>A | CA346824372 | NRXN1 | c.253C>T (p.Arg85Cys) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028021G>C | CA346824373 | NRXN1 | c.253C>G (p.Arg85Gly) | gnomAD v4 |
2 | g.51028021G>T | CA346824374 | NRXN1 | c.253C>A (p.Arg85Ser) | gnomAD v4 |
2 | g.51028022C>A | CA426129391 | NRXN1 | c.252G>T (p.Thr84=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028022C= | CA1249878795 | NRXN1 | c.252G= (p.Thr84=) | |
2 | g.51028022C>G | CA426129390 | NRXN1 | c.252G>C (p.Thr84=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51028022C>T | CA10604279 | NRXN1 | c.252G>A (p.Thr84=) | ClinVar dbSNP gnomAD v4 |
2 | g.51028023G>A | CA346824375 | NRXN1 | c.251C>T (p.Thr84Met) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028023G>C | CA346824376 | NRXN1 | c.251C>G (p.Thr84Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.51028023G= | CA1249878796 | NRXN1 | c.251C= (p.Thr84=) | |
2 | g.51028023G>T | CA346824377 | NRXN1 | c.251C>A (p.Thr84Lys) | gnomAD v4 |
2 | g.51028024T>A | CA48054928 | NRXN1 | c.250A>T (p.Thr84Ser) | ClinVar dbSNP |
2 | g.51028024T>C | CA346824379 | NRXN1 | c.250A>G (p.Thr84Ala) | |
2 | g.51028024T>G | CA346824378 | NRXN1 | c.250A>C (p.Thr84Pro) | |
2 | g.51028024T= | CA1249878797 | NRXN1 | c.250A= (p.Thr84=) | |
2 | g.51028025C>A | CA1655536 | NRXN1 | c.249G>T (p.Leu83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028025C= | CA1249878798 | NRXN1 | c.249G= (p.Leu83=) | |
2 | g.51028025C>G | CA426129394 | NRXN1 | c.249G>C (p.Leu83=) | |
2 | g.51028025C>T | CA426129395 | NRXN1 | c.249G>A (p.Leu83=) | dbSNP gnomAD v4 |