Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.51026311_51028334del | CA1139657030 | NRXN1 | c.-59_772+1193del c.-59_871+62del | ClinVar |
2 | g.51028055C>A | CA346824443 | NRXN1 | c.219G>T (p.Glu73Asp) | ClinVar |
2 | g.51028055C= | CA1249878814 | NRXN1 | c.219G= (p.Glu73=) | |
2 | g.51028055C>G | CA316111 | NRXN1 | c.219G>C (p.Glu73Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028055C>T | CA1655545 | NRXN1 | c.219G>A (p.Glu73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028056T>A | CA346824444 | NRXN1 | c.218A>T (p.Glu73Val) | |
2 | g.51028056T>C | CA346824446 | NRXN1 | c.218A>G (p.Glu73Gly) | |
2 | g.51028056T>G | CA346824445 | NRXN1 | c.218A>C (p.Glu73Ala) | |
2 | g.51028062_51028064dup | CA2576965111 | NRXN1 | c.216_218dup (p.Asp72_Glu73insAsp) | |
2 | g.51028057C>A | CA346824447 | NRXN1 | c.217G>T (p.Glu73Ter) | gnomAD v4 |
2 | g.51028057C= | CA1249878815 | NRXN1 | c.217G= (p.Glu73=) | |
2 | g.51028057C>G | CA346824448 | NRXN1 | c.217G>C (p.Glu73Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51028057C>T | CA346824449 | NRXN1 | c.217G>A (p.Glu73Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51028058G>A | CA426129432 | NRXN1 | c.216C>T (p.Asp72=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028058G>C | CA346824450 | NRXN1 | c.216C>G (p.Asp72Glu) | |
2 | g.51028058G= | CA1249878816 | NRXN1 | c.216C= (p.Asp72=) | |
2 | g.51028058G>T | CA346824451 | NRXN1 | c.216C>A (p.Asp72Glu) | gnomAD v4 |
2 | g.51028059T>A | CA346824452 | NRXN1 | c.215A>T (p.Asp72Val) | |
2 | g.51028059T>C | CA346824453 | NRXN1 | c.215A>G (p.Asp72Gly) | |
2 | g.51028059T>G | CA346824454 | NRXN1 | c.215A>C (p.Asp72Ala) | gnomAD v4 |
2 | g.51028060C>A | CA346824455 | NRXN1 | c.214G>T (p.Asp72Tyr) | gnomAD v4 |
2 | g.51028060C= | CA1249878817 | NRXN1 | c.214G= (p.Asp72=) | |
2 | g.51028060C>G | CA346824456 | NRXN1 | c.214G>C (p.Asp72His) | |
2 | g.51028060C>T | CA346824457 | NRXN1 | c.214G>A (p.Asp72Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51028061G>A | CA48054931 | NRXN1 | c.213C>T (p.Asp71=) | dbSNP gnomAD v4 |
2 | g.51028061G>C | CA346824458 | NRXN1 | c.213C>G (p.Asp71Glu) | |
2 | g.51028061G= | CA1249878818 | NRXN1 | c.213C= (p.Asp71=) | |
2 | g.51028061G>T | CA346824459 | NRXN1 | c.213C>A (p.Asp71Glu) | gnomAD v4 |
2 | g.51028062T>A | CA346824460 | NRXN1 | c.212A>T (p.Asp71Val) | |
2 | g.51028062T>C | CA346824462 | NRXN1 | c.212A>G (p.Asp71Gly) | gnomAD v4 |
2 | g.51028062T>G | CA346824461 | NRXN1 | c.212A>C (p.Asp71Ala) | |
2 | g.51028063C>A | CA346824463 | NRXN1 | c.211G>T (p.Asp71Tyr) | |
2 | g.51028063C= | CA1249878819 | NRXN1 | c.211G= (p.Asp71=) | |
2 | g.51028063C>G | CA346824464 | NRXN1 | c.211G>C (p.Asp71His) | |
2 | g.51028063C>T | CA1655546 | NRXN1 | c.211G>A (p.Asp71Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028064G>A | CA426129440 | NRXN1 | c.210C>T (p.Phe70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51028064G>C | CA346824465 | NRXN1 | c.210C>G (p.Phe70Leu) | gnomAD v4 |
2 | g.51028064G= | CA1249878820 | NRXN1 | c.210C= (p.Phe70=) | |
2 | g.51028064G>T | CA1655547 | NRXN1 | c.210C>A (p.Phe70Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51028065A>C | CA346824466 | NRXN1 | c.209T>G (p.Phe70Cys) | |
2 | g.51028065A>G | CA346824467 | NRXN1 | c.209T>C (p.Phe70Ser) | |
2 | g.51028065A>T | CA346824468 | NRXN1 | c.209T>A (p.Phe70Tyr) | |
2 | g.51028066A= | CA1249878821 | NRXN1 | c.208T= (p.Phe70=) | |
2 | g.51028066A>C | CA346824469 | NRXN1 | c.208T>G (p.Phe70Val) | |
2 | g.51028066A>G | CA316109 | NRXN1 | c.208T>C (p.Phe70Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.51028066A>T | CA346824470 | NRXN1 | c.208T>A (p.Phe70Ile) | |
2 | g.51028067G>A | CA426129442 | NRXN1 | c.207C>T (p.Tyr69=) | gnomAD v4 |
2 | g.51028067G>C | CA346824471 | NRXN1 | c.207C>G (p.Tyr69Ter) | |
2 | g.51028067G>T | CA346824472 | NRXN1 | c.207C>A (p.Tyr69Ter) | gnomAD v4 |
2 | g.51028068T>A | CA346824473 | NRXN1 | c.206A>T (p.Tyr69Phe) | dbSNP gnomAD v2 gnomAD v4 |