Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.51026311_51028334del | CA1139657030 | NRXN1 | c.-59_772+1193del c.-59_871+62del | ClinVar |
2 | g.51027913G>A | CA48054913 | NRXN1 | c.361C>T (p.Arg121Cys) | dbSNP gnomAD v4 |
2 | g.51027913G>C | CA346824167 | NRXN1 | c.361C>G (p.Arg121Gly) | |
2 | g.51027913G= | CA1249878722 | NRXN1 | c.361C= (p.Arg121=) | |
2 | g.51027913G>T | CA346824166 | NRXN1 | c.361C>A (p.Arg121Ser) | |
2 | g.51027914G>A | CA1655502 | NRXN1 | c.360C>T (p.Arg120=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51027914G>C | CA426129143 | NRXN1 | c.360C>G (p.Arg120=) | |
2 | g.51027914G= | CA1249878723 | NRXN1 | c.360C= (p.Arg120=) | |
2 | g.51027914G>T | CA426129145 | NRXN1 | c.360C>A (p.Arg120=) | |
2 | g.51027915C>A | CA346824168 | NRXN1 | c.359G>T (p.Arg120Leu) | dbSNP gnomAD v2 |
2 | g.51027915C= | CA1249878724 | NRXN1 | c.359G= (p.Arg120=) | |
2 | g.51027915C>G | CA346824169 | NRXN1 | c.359G>C (p.Arg120Pro) | |
2 | g.51027915C>T | CA346824170 | NRXN1 | c.359G>A (p.Arg120His) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.51027916G>A | CA1655503 | NRXN1 | c.358C>T (p.Arg120Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51027916G>C | CA346824171 | NRXN1 | c.358C>G (p.Arg120Gly) | |
2 | g.51027916G= | CA1249878725 | NRXN1 | c.358C= (p.Arg120=) | |
2 | g.51027916G>T | CA346824172 | NRXN1 | c.358C>A (p.Arg120Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.51027917G>A | CA48054914 | NRXN1 | c.357C>T (p.Ile119=) | dbSNP gnomAD v4 |
2 | g.51027917G>C | CA1655504 | NRXN1 | c.357C>G (p.Ile119Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51027917G= | CA1249878726 | NRXN1 | c.357C= (p.Ile119=) | |
2 | g.51027917G>T | CA426129149 | NRXN1 | c.357C>A (p.Ile119=) | |
2 | g.51027918A= | CA1249878727 | NRXN1 | c.356T= (p.Ile119=) | |
2 | g.51027918A>C | CA346824173 | NRXN1 | c.356T>G (p.Ile119Ser) | dbSNP |
2 | g.51027918A>G | CA346824174 | NRXN1 | c.356T>C (p.Ile119Thr) | |
2 | g.51027918A>T | CA346824175 | NRXN1 | c.356T>A (p.Ile119Asn) | |
2 | g.51027919T>A | CA346824176 | NRXN1 | c.355A>T (p.Ile119Phe) | |
2 | g.51027919T>C | CA346824178 | NRXN1 | c.355A>G (p.Ile119Val) | ClinVar dbSNP gnomAD v4 |
2 | g.51027919T>G | CA346824177 | NRXN1 | c.355A>C (p.Ile119Leu) | dbSNP gnomAD v4 |
2 | g.51027919T= | CA1249878728 | NRXN1 | c.355A= (p.Ile119=) | |
2 | g.51027920G>A | CA426129157 | NRXN1 | c.354C>T (p.Arg118=) | gnomAD v4 |
2 | g.51027920G>C | CA426129161 | NRXN1 | c.354C>G (p.Arg118=) | |
2 | g.51027920G>T | CA426129163 | NRXN1 | c.354C>A (p.Arg118=) | |
2 | g.51027921C>A | CA346824179 | NRXN1 | c.353G>T (p.Arg118Leu) | gnomAD v4 |
2 | g.51027921C= | CA1249878729 | NRXN1 | c.353G= (p.Arg118=) | |
2 | g.51027921C>G | CA346824180 | NRXN1 | c.353G>C (p.Arg118Pro) | |
2 | g.51027921C>T | CA316123 | NRXN1 | c.353G>A (p.Arg118His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51027922G>A | CA346824181 | NRXN1 | c.352C>T (p.Arg118Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.51027922G>C | CA346824182 | NRXN1 | c.352C>G (p.Arg118Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51027922G= | CA1249878730 | NRXN1 | c.352C= (p.Arg118=) | |
2 | g.51027922G>T | CA346824183 | NRXN1 | c.352C>A (p.Arg118Ser) | gnomAD v4 |
2 | g.51027923C>A | CA426129164 | NRXN1 | c.351G>T (p.Val117=) | gnomAD v4 |
2 | g.51027923C= | CA1249878731 | NRXN1 | c.351G= (p.Val117=) | |
2 | g.51027923C>G | CA426129165 | NRXN1 | c.351G>C (p.Val117=) | dbSNP |
2 | g.51027923C>T | CA426129166 | NRXN1 | c.351G>A (p.Val117=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51027924A>C | CA346824184 | NRXN1 | c.350T>G (p.Val117Gly) | |
2 | g.51027924A>G | CA346824185 | NRXN1 | c.350T>C (p.Val117Ala) | |
2 | g.51027924A>T | CA346824186 | NRXN1 | c.350T>A (p.Val117Glu) | |
2 | g.51027925C>A | CA346824188 | NRXN1 | c.349G>T (p.Val117Leu) | ClinVar |
2 | g.51027925C= | CA1249878732 | NRXN1 | c.349G= (p.Val117=) | |
2 | g.51027925C>G | CA346824189 | NRXN1 | c.349G>C (p.Val117Leu) |