| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7267730C>A | CA505482033 | INSR | c.267G>T (p.Leu89=) n.242G>T c.345G>T (p.Leu115=) | |
| 19 | g.7267730C>G | CA505482034 | INSR | c.267G>C (p.Leu89=) n.242G>C c.345G>C (p.Leu115=) | |
| 19 | g.7267730C>T | CA505482035 | INSR | c.267G>A (p.Leu89=) n.242G>A c.345G>A (p.Leu115=) | |
| 19 | g.7267731A>C | CA403160189 | INSR | c.266T>G (p.Leu89Arg) n.241T>G c.344T>G (p.Leu115Arg) | |
| 19 | g.7267731A>G | CA403160191 | INSR | c.266T>C (p.Leu89Pro) n.241T>C c.344T>C (p.Leu115Pro) | |
| 19 | g.7267731A>T | CA403160192 | INSR | c.266T>A (p.Leu89Gln) n.241T>A c.344T>A (p.Leu115Gln) | |
| 19 | g.7267732G>A | CA505482036 | INSR | c.265C>T (p.Leu89=) n.240C>T c.343C>T (p.Leu115=) | |
| 19 | g.7267732G>C | CA403160194 | INSR | c.265C>G (p.Leu89Val) n.240C>G c.343C>G (p.Leu115Val) | |
| 19 | g.7267732G>T | CA403160196 | INSR | c.265C>A (p.Leu89Met) n.240C>A c.343C>A (p.Leu115Met) | |
| 19 | g.7267733C>A | CA403160198 | INSR | c.264G>T (p.Leu88Phe) n.239G>T c.342G>T (p.Leu114Phe) | |
| 19 | g.7267733C= | CA2320836525 | INSR | c.264G= (p.Leu88=) n.239G= c.342G= (p.Leu114=) | |
| 19 | g.7267733C>G | CA403160200 | INSR | c.264G>C (p.Leu88Phe) n.239G>C c.342G>C (p.Leu114Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267733C>T | CA505482037 | INSR | c.264G>A (p.Leu88=) n.239G>A c.342G>A (p.Leu114=) | |
| 19 | g.7267734A>C | CA403160202 | INSR | c.263T>G (p.Leu88Trp) n.238T>G c.341T>G (p.Leu114Trp) | |
| 19 | g.7267734A>G | CA403160203 | INSR | c.263T>C (p.Leu88Ser) n.238T>C c.341T>C (p.Leu114Ser) | |
| 19 | g.7267734A>T | CA403160204 | INSR | c.263T>A (p.Leu88Ter) n.238T>A c.341T>A (p.Leu114Ter) | |
| 19 | g.7267735A= | CA2320836526 | INSR | c.262T= (p.Leu88=) n.237T= c.340T= (p.Leu114=) | |
| 19 | g.7267735A>C | CA403160207 | INSR | c.262T>G (p.Leu88Val) n.237T>G c.340T>G (p.Leu114Val) | gnomAD v4 |
| 19 | g.7267735A>G | CA9136145 | INSR | c.262T>C (p.Leu88=) n.237T>C c.340T>C (p.Leu114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267735A>T | CA403160206 | INSR | c.262T>A (p.Leu88Met) n.237T>A c.340T>A (p.Leu114Met) | |
| 19 | g.7267736G>A | CA9136146 | INSR | c.261C>T (p.Tyr87=) n.236C>T c.339C>T (p.Tyr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267736G>C | CA403160209 | INSR | c.261C>G (p.Tyr87Ter) n.236C>G c.339C>G (p.Tyr113Ter) | |
| 19 | g.7267736G= | CA2320836527 | INSR | c.261C= (p.Tyr87=) n.236C= c.339C= (p.Tyr113=) | |
| 19 | g.7267736G>T | CA403160210 | INSR | c.261C>A (p.Tyr87Ter) n.236C>A c.339C>A (p.Tyr113Ter) | gnomAD v4 |
| 19 | g.7267736_7267737insC | CA2695228067 | INSR | c.260_261insG (p.Tyr87Ter) n.235_236insG c.338_339insG (p.Tyr113Ter) | |
| 19 | g.7267737T>A | CA403160212 | INSR | c.260A>T (p.Tyr87Phe) n.235A>T c.338A>T (p.Tyr113Phe) | |
| 19 | g.7267737T>C | CA403160214 | INSR | c.260A>G (p.Tyr87Cys) n.235A>G c.338A>G (p.Tyr113Cys) | |
| 19 | g.7267737T>G | CA403160216 | INSR | c.260A>C (p.Tyr87Ser) n.235A>C c.338A>C (p.Tyr113Ser) | |
| 19 | g.7267737_7267738insC | CA2587926495 | INSR | c.259_260insG (p.Tyr87Ter) n.234_235insG c.337_338insG (p.Tyr113Ter) | gnomAD v4 |
| 19 | g.7267738A>C | CA403160217 | INSR | c.259T>G (p.Tyr87Asp) n.234T>G c.337T>G (p.Tyr113Asp) | |
| 19 | g.7267738A>G | CA403160219 | INSR | c.259T>C (p.Tyr87His) n.234T>C c.337T>C (p.Tyr113His) | |
| 19 | g.7267738A>T | CA403160221 | INSR | c.259T>A (p.Tyr87Asn) n.234T>A c.337T>A (p.Tyr113Asn) | |
| 19 | g.7267739A>C | CA403160222 | INSR | c.258T>G (p.Asp86Glu) n.233T>G c.336T>G (p.Asp112Glu) | |
| 19 | g.7267739A>G | CA505482038 | INSR | c.258T>C (p.Asp86=) n.233T>C c.336T>C (p.Asp112=) | |
| 19 | g.7267739A>T | CA403160224 | INSR | c.258T>A (p.Asp86Glu) n.233T>A c.336T>A (p.Asp112Glu) | |
| 19 | g.7267740T>A | CA403160226 | INSR | c.257A>T (p.Asp86Val) n.232A>T c.335A>T (p.Asp112Val) | |
| 19 | g.7267740T>C | CA403160227 | INSR | c.257A>G (p.Asp86Gly) n.232A>G c.335A>G (p.Asp112Gly) | |
| 19 | g.7267740T>G | CA403160229 | INSR | c.257A>C (p.Asp86Ala) n.232A>C c.335A>C (p.Asp112Ala) | |
| 19 | g.7267741C>A | CA403160234 | INSR | c.256G>T (p.Asp86Tyr) n.231G>T c.334G>T (p.Asp112Tyr) | |
| 19 | g.7267741C>G | CA403160230 | INSR | c.256G>C (p.Asp86His) n.231G>C c.334G>C (p.Asp112His) | |
| 19 | g.7267741C>T | CA403160232 | INSR | c.256G>A (p.Asp86Asn) n.231G>A c.334G>A (p.Asp112Asn) | |
| 19 | g.7267742A>C | CA505482039 | INSR | c.255T>G (p.Thr85=) n.230T>G c.333T>G (p.Thr111=) | |
| 19 | g.7267742A>G | CA505482040 | INSR | c.255T>C (p.Thr85=) n.230T>C c.333T>C (p.Thr111=) | gnomAD v4 |
| 19 | g.7267742A>T | CA505482041 | INSR | c.255T>A (p.Thr85=) n.230T>A c.333T>A (p.Thr111=) | |
| 19 | g.7267743G>A | CA403160236 | INSR | c.254C>T (p.Thr85Ile) n.229C>T c.332C>T (p.Thr111Ile) | |
| 19 | g.7267743G>C | CA403160237 | INSR | c.254C>G (p.Thr85Ser) n.229C>G c.332C>G (p.Thr111Ser) | |
| 19 | g.7267743G>T | CA403160239 | INSR | c.254C>A (p.Thr85Asn) n.229C>A c.332C>A (p.Thr111Asn) | |
| 19 | g.7267744T>A | CA403160241 | INSR | c.253A>T (p.Thr85Ser) n.228A>T c.331A>T (p.Thr111Ser) | |
| 19 | g.7267744T>C | CA403160243 | INSR | c.253A>G (p.Thr85Ala) n.228A>G c.331A>G (p.Thr111Ala) | |
| 19 | g.7267744T>G | CA403160244 | INSR | c.253A>C (p.Thr85Pro) n.228A>C c.331A>C (p.Thr111Pro) |