OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.3457420A= | CA2281035514 | TGIF1 | c.239A= (p.Lys80=) c.299A= (p.Lys100=) c.686A= (p.Lys229=) c.*12A= (n.*12A=) c.341A= (p.Lys114=) c.308A= (p.Lys103=) | |
| 18 | g.3457420A>C | CA401723229 | TGIF1 | c.239A>C (p.Lys80Thr) c.299A>C (p.Lys100Thr) c.686A>C (p.Lys229Thr) c.*12A>C (n.*12A>C) c.341A>C (p.Lys114Thr) c.308A>C (p.Lys103Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457420A>G | CA8875927 | TGIF1 | c.239A>G (p.Lys80Arg) c.299A>G (p.Lys100Arg) c.686A>G (p.Lys229Arg) c.*12A>G (n.*12A>G) c.341A>G (p.Lys114Arg) c.308A>G (p.Lys103Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457420A>T | CA401723230 | TGIF1 | c.239A>T (p.Lys80Met) c.299A>T (p.Lys100Met) c.686A>T (p.Lys229Met) c.*12A>T (n.*12A>T) c.341A>T (p.Lys114Met) c.308A>T (p.Lys103Met) | |
| 18 | g.3457421G>A | CA502810364 | TGIF1 | c.240G>A (p.Lys80=) c.300G>A (p.Lys100=) c.687G>A (p.Lys229=) c.*13G>A (n.*13G>A) c.342G>A (p.Lys114=) c.309G>A (p.Lys103=) | COSMIC COSMIC |
| 18 | g.3457421G>C | CA401723232 | TGIF1 | c.240G>C (p.Lys80Asn) c.300G>C (p.Lys100Asn) c.687G>C (p.Lys229Asn) c.*13G>C (n.*13G>C) c.342G>C (p.Lys114Asn) c.309G>C (p.Lys103Asn) | |
| 18 | g.3457421G>T | CA401723231 | TGIF1 | c.240G>T (p.Lys80Asn) c.300G>T (p.Lys100Asn) c.687G>T (p.Lys229Asn) c.*13G>T (n.*13G>T) c.342G>T (p.Lys114Asn) c.309G>T (p.Lys103Asn) | |
| 18 | g.3457422G>A | CA401723233 | TGIF1 | c.241G>A (p.Asp81Asn) c.301G>A (p.Asp101Asn) c.688G>A (p.Asp230Asn) c.*14G>A (n.*14G>A) c.343G>A (p.Asp115Asn) c.310G>A (p.Asp104Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457422G>C | CA401723234 | TGIF1 | c.241G>C (p.Asp81His) c.301G>C (p.Asp101His) c.688G>C (p.Asp230His) c.*14G>C (n.*14G>C) c.343G>C (p.Asp115His) c.310G>C (p.Asp104His) | |
| 18 | g.3457422G= | CA2281035515 | TGIF1 | c.241G= (p.Asp81=) c.301G= (p.Asp101=) c.688G= (p.Asp230=) c.*14G= (n.*14G=) c.343G= (p.Asp115=) c.310G= (p.Asp104=) | |
| 18 | g.3457422G>T | CA401723235 | TGIF1 | c.241G>T (p.Asp81Tyr) c.301G>T (p.Asp101Tyr) c.688G>T (p.Asp230Tyr) c.*14G>T (n.*14G>T) c.343G>T (p.Asp115Tyr) c.310G>T (p.Asp104Tyr) | |
| 18 | g.3457423A>C | CA401723236 | TGIF1 | c.242A>C (p.Asp81Ala) c.302A>C (p.Asp101Ala) c.689A>C (p.Asp230Ala) c.*15A>C (n.*15A>C) c.344A>C (p.Asp115Ala) c.311A>C (p.Asp104Ala) | |
| 18 | g.3457423A>G | CA401723237 | TGIF1 | c.242A>G (p.Asp81Gly) c.302A>G (p.Asp101Gly) c.689A>G (p.Asp230Gly) c.*15A>G (n.*15A>G) c.344A>G (p.Asp115Gly) c.311A>G (p.Asp104Gly) | |
| 18 | g.3457423A>T | CA401723238 | TGIF1 | c.242A>T (p.Asp81Val) c.302A>T (p.Asp101Val) c.689A>T (p.Asp230Val) c.*15A>T (n.*15A>T) c.344A>T (p.Asp115Val) c.311A>T (p.Asp104Val) | |
| 18 | g.3457424T>A | CA401723240 | TGIF1 | c.243T>A (p.Asp81Glu) c.303T>A (p.Asp101Glu) c.690T>A (p.Asp230Glu) c.*16T>A (n.*16T>A) c.345T>A (p.Asp115Glu) c.312T>A (p.Asp104Glu) | |
| 18 | g.3457424T>C | CA502810366 | TGIF1 | c.243T>C (p.Asp81=) c.303T>C (p.Asp101=) c.690T>C (p.Asp230=) c.*16T>C (n.*16T>C) c.345T>C (p.Asp115=) c.312T>C (p.Asp104=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457424T>G | CA401723239 | TGIF1 | c.243T>G (p.Asp81Glu) c.303T>G (p.Asp101Glu) c.690T>G (p.Asp230Glu) c.*16T>G (n.*16T>G) c.345T>G (p.Asp115Glu) c.312T>G (p.Asp104Glu) | |
| 18 | g.3457424T= | CA2281035516 | TGIF1 | c.243T= (p.Asp81=) c.303T= (p.Asp101=) c.690T= (p.Asp230=) c.*16T= (n.*16T=) c.345T= (p.Asp115=) c.312T= (p.Asp104=) | |
| 18 | g.3457425G>A | CA401723241 | TGIF1 | c.244G>A (p.Gly82Ser) c.304G>A (p.Gly102Ser) c.691G>A (p.Gly231Ser) c.*17G>A (n.*17G>A) c.346G>A (p.Gly116Ser) c.313G>A (p.Gly105Ser) | |
| 18 | g.3457425G>C | CA401723242 | TGIF1 | c.244G>C (p.Gly82Arg) c.304G>C (p.Gly102Arg) c.691G>C (p.Gly231Arg) c.*17G>C (n.*17G>C) c.346G>C (p.Gly116Arg) c.313G>C (p.Gly105Arg) | |
| 18 | g.3457425G>T | CA401723243 | TGIF1 | c.244G>T (p.Gly82Cys) c.304G>T (p.Gly102Cys) c.691G>T (p.Gly231Cys) c.*17G>T (n.*17G>T) c.346G>T (p.Gly116Cys) c.313G>T (p.Gly105Cys) | |
| 18 | g.3457426G>A | CA401723244 | TGIF1 | c.245G>A (p.Gly82Asp) c.305G>A (p.Gly102Asp) c.692G>A (p.Gly231Asp) c.*18G>A (n.*18G>A) c.347G>A (p.Gly116Asp) c.314G>A (p.Gly105Asp) | |
| 18 | g.3457426G>C | CA401723245 | TGIF1 | c.245G>C (p.Gly82Ala) c.305G>C (p.Gly102Ala) c.692G>C (p.Gly231Ala) c.*18G>C (n.*18G>C) c.347G>C (p.Gly116Ala) c.314G>C (p.Gly105Ala) | |
| 18 | g.3457426G>T | CA401723246 | TGIF1 | c.245G>T (p.Gly82Val) c.305G>T (p.Gly102Val) c.692G>T (p.Gly231Val) c.*18G>T (n.*18G>T) c.347G>T (p.Gly116Val) c.314G>T (p.Gly105Val) | |
| 18 | g.3457427C>A | CA502810368 | TGIF1 | c.246C>A (p.Gly82=) c.306C>A (p.Gly102=) c.693C>A (p.Gly231=) c.*19C>A (n.*19C>A) c.348C>A (p.Gly116=) c.315C>A (p.Gly105=) | |
| 18 | g.3457427C>G | CA502810369 | TGIF1 | c.246C>G (p.Gly82=) c.306C>G (p.Gly102=) c.693C>G (p.Gly231=) c.*19C>G (n.*19C>G) c.348C>G (p.Gly116=) c.315C>G (p.Gly105=) | |
| 18 | g.3457427C>T | CA502810370 | TGIF1 | c.246C>T (p.Gly82=) c.306C>T (p.Gly102=) c.693C>T (p.Gly231=) c.*19C>T (n.*19C>T) c.348C>T (p.Gly116=) c.315C>T (p.Gly105=) | gnomAD v4 |
| 18 | g.3457428A>C | CA401723249 | TGIF1 | c.247A>C (p.Lys83Gln) c.307A>C (p.Lys103Gln) c.694A>C (p.Lys232Gln) c.*20A>C (n.*20A>C) c.349A>C (p.Lys117Gln) c.316A>C (p.Lys106Gln) | |
| 18 | g.3457428A>G | CA401723247 | TGIF1 | c.247A>G (p.Lys83Glu) c.307A>G (p.Lys103Glu) c.694A>G (p.Lys232Glu) c.*20A>G (n.*20A>G) c.349A>G (p.Lys117Glu) c.316A>G (p.Lys106Glu) | |
| 18 | g.3457428A>T | CA401723248 | TGIF1 | c.247A>T (p.Lys83Ter) c.307A>T (p.Lys103Ter) c.694A>T (p.Lys232Ter) c.*20A>T (n.*20A>T) c.349A>T (p.Lys117Ter) c.316A>T (p.Lys106Ter) | |
| 18 | g.3457429A= | CA2281035517 | TGIF1 | c.248A= (p.Lys83=) c.308A= (p.Lys103=) c.695A= (p.Lys232=) c.*21A= (n.*21A=) c.350A= (p.Lys117=) c.317A= (p.Lys106=) | |
| 18 | g.3457429A>C | CA401723250 | TGIF1 | c.248A>C (p.Lys83Thr) c.308A>C (p.Lys103Thr) c.695A>C (p.Lys232Thr) c.*21A>C (n.*21A>C) c.350A>C (p.Lys117Thr) c.317A>C (p.Lys106Thr) | |
| 18 | g.3457429A>G | CA401723251 | TGIF1 | c.248A>G (p.Lys83Arg) c.308A>G (p.Lys103Arg) c.695A>G (p.Lys232Arg) c.*21A>G (n.*21A>G) c.350A>G (p.Lys117Arg) c.317A>G (p.Lys106Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457429A>T | CA401723252 | TGIF1 | c.248A>T (p.Lys83Ile) c.308A>T (p.Lys103Ile) c.695A>T (p.Lys232Ile) c.*21A>T (n.*21A>T) c.350A>T (p.Lys117Ile) c.317A>T (p.Lys106Ile) | |
| 18 | g.3457430A>C | CA401723253 | TGIF1 | c.249A>C (p.Lys83Asn) c.309A>C (p.Lys103Asn) c.696A>C (p.Lys232Asn) c.*22A>C (n.*22A>C) c.351A>C (p.Lys117Asn) c.318A>C (p.Lys106Asn) | |
| 18 | g.3457430A>G | CA502810372 | TGIF1 | c.249A>G (p.Lys83=) c.309A>G (p.Lys103=) c.696A>G (p.Lys232=) c.*22A>G (n.*22A>G) c.351A>G (p.Lys117=) c.318A>G (p.Lys106=) | |
| 18 | g.3457430A>T | CA401723254 | TGIF1 | c.249A>T (p.Lys83Asn) c.309A>T (p.Lys103Asn) c.696A>T (p.Lys232Asn) c.*22A>T (n.*22A>T) c.351A>T (p.Lys117Asn) c.318A>T (p.Lys106Asn) | |
| 18 | g.3457431G>A | CA401723255 | TGIF1 | c.250G>A (p.Asp84Asn) c.310G>A (p.Asp104Asn) c.697G>A (p.Asp233Asn) c.*23G>A (n.*23G>A) c.352G>A (p.Asp118Asn) c.319G>A (p.Asp107Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457431G>C | CA401723256 | TGIF1 | c.250G>C (p.Asp84His) c.310G>C (p.Asp104His) c.697G>C (p.Asp233His) c.*23G>C (n.*23G>C) c.352G>C (p.Asp118His) c.319G>C (p.Asp107His) | |
| 18 | g.3457431G= | CA2281035518 | TGIF1 | c.250G= (p.Asp84=) c.310G= (p.Asp104=) c.697G= (p.Asp233=) c.*23G= (n.*23G=) c.352G= (p.Asp118=) c.319G= (p.Asp107=) | |
| 18 | g.3457431G>T | CA401723257 | TGIF1 | c.250G>T (p.Asp84Tyr) c.310G>T (p.Asp104Tyr) c.697G>T (p.Asp233Tyr) c.*23G>T (n.*23G>T) c.352G>T (p.Asp118Tyr) c.319G>T (p.Asp107Tyr) | |
| 18 | g.3457432A>C | CA401723258 | TGIF1 | c.251A>C (p.Asp84Ala) c.311A>C (p.Asp104Ala) c.698A>C (p.Asp233Ala) c.*24A>C (n.*24A>C) c.353A>C (p.Asp118Ala) c.320A>C (p.Asp107Ala) | |
| 18 | g.3457432A>G | CA401723259 | TGIF1 | c.251A>G (p.Asp84Gly) c.311A>G (p.Asp104Gly) c.698A>G (p.Asp233Gly) c.*24A>G (n.*24A>G) c.353A>G (p.Asp118Gly) c.320A>G (p.Asp107Gly) | |
| 18 | g.3457432A>T | CA401723260 | TGIF1 | c.251A>T (p.Asp84Val) c.311A>T (p.Asp104Val) c.698A>T (p.Asp233Val) c.*24A>T (n.*24A>T) c.353A>T (p.Asp118Val) c.320A>T (p.Asp107Val) | |
| 18 | g.3457433T>A | CA401723261 | TGIF1 | c.252T>A (p.Asp84Glu) c.312T>A (p.Asp104Glu) c.699T>A (p.Asp233Glu) c.*25T>A (n.*25T>A) c.354T>A (p.Asp118Glu) c.321T>A (p.Asp107Glu) | |
| 18 | g.3457433T>C | CA502810375 | TGIF1 | c.252T>C (p.Asp84=) c.312T>C (p.Asp104=) c.699T>C (p.Asp233=) c.*25T>C (n.*25T>C) c.354T>C (p.Asp118=) c.321T>C (p.Asp107=) | |
| 18 | g.3457433T>G | CA401723262 | TGIF1 | c.252T>G (p.Asp84Glu) c.312T>G (p.Asp104Glu) c.699T>G (p.Asp233Glu) c.*25T>G (n.*25T>G) c.354T>G (p.Asp118Glu) c.321T>G (p.Asp107Glu) | |
| 18 | g.3457434C>A | CA401723265 | TGIF1 | c.253C>A (p.Pro85Thr) c.313C>A (p.Pro105Thr) c.700C>A (p.Pro234Thr) c.*26C>A (n.*26C>A) c.355C>A (p.Pro119Thr) c.322C>A (p.Pro108Thr) | |
| 18 | g.3457434C>G | CA401723263 | TGIF1 | c.253C>G (p.Pro85Ala) c.313C>G (p.Pro105Ala) c.700C>G (p.Pro234Ala) c.*26C>G (n.*26C>G) c.355C>G (p.Pro119Ala) c.322C>G (p.Pro108Ala) | |
| 18 | g.3457434C>T | CA401723264 | TGIF1 | c.253C>T (p.Pro85Ser) c.313C>T (p.Pro105Ser) c.700C>T (p.Pro234Ser) c.*26C>T (n.*26C>T) c.355C>T (p.Pro119Ser) c.322C>T (p.Pro108Ser) | dbSNP |
| 18 | g.3457435C>A | CA401723266 | TGIF1 | c.254C>A (p.Pro85Gln) c.314C>A (p.Pro105Gln) c.701C>A (p.Pro234Gln) c.*27C>A (n.*27C>A) c.356C>A (p.Pro119Gln) c.323C>A (p.Pro108Gln) | |
| 18 | g.3457435C>G | CA401723267 | TGIF1 | c.254C>G (p.Pro85Arg) c.314C>G (p.Pro105Arg) c.701C>G (p.Pro234Arg) c.*27C>G (n.*27C>G) c.356C>G (p.Pro119Arg) c.323C>G (p.Pro108Arg) | |
| 18 | g.3457435C>T | CA401723268 | TGIF1 | c.254C>T (p.Pro85Leu) c.314C>T (p.Pro105Leu) c.701C>T (p.Pro234Leu) c.*27C>T (n.*27C>T) c.356C>T (p.Pro119Leu) c.323C>T (p.Pro108Leu) | |
| 18 | g.3457436A>C | CA502810378 | TGIF1 | c.255A>C (p.Pro85=) c.315A>C (p.Pro105=) c.702A>C (p.Pro234=) c.*28A>C (n.*28A>C) c.357A>C (p.Pro119=) c.324A>C (p.Pro108=) | |
| 18 | g.3457436A>G | CA502810380 | TGIF1 | c.255A>G (p.Pro85=) c.315A>G (p.Pro105=) c.702A>G (p.Pro234=) c.*28A>G (n.*28A>G) c.357A>G (p.Pro119=) c.324A>G (p.Pro108=) | |
| 18 | g.3457436A>T | CA502810381 | TGIF1 | c.255A>T (p.Pro85=) c.315A>T (p.Pro105=) c.702A>T (p.Pro234=) c.*28A>T (n.*28A>T) c.357A>T (p.Pro119=) c.324A>T (p.Pro108=) | |
| 18 | g.3457437A= | CA2281035519 | TGIF1 | c.256A= (p.Asn86=) c.316A= (p.Asn106=) c.703A= (p.Asn235=) c.*29A= (n.*29A=) c.358A= (p.Asn120=) c.325A= (p.Asn109=) | |
| 18 | g.3457437A>C | CA401723269 | TGIF1 | c.256A>C (p.Asn86His) c.316A>C (p.Asn106His) c.703A>C (p.Asn235His) c.*29A>C (n.*29A>C) c.358A>C (p.Asn120His) c.325A>C (p.Asn109His) | |
| 18 | g.3457437A>G | CA401723270 | TGIF1 | c.256A>G (p.Asn86Asp) c.316A>G (p.Asn106Asp) c.703A>G (p.Asn235Asp) c.*29A>G (n.*29A>G) c.358A>G (p.Asn120Asp) c.325A>G (p.Asn109Asp) | |
| 18 | g.3457437A>T | CA401723271 | TGIF1 | c.256A>T (p.Asn86Tyr) c.316A>T (p.Asn106Tyr) c.703A>T (p.Asn235Tyr) c.*29A>T (n.*29A>T) c.358A>T (p.Asn120Tyr) c.325A>T (p.Asn109Tyr) | dbSNP gnomAD v4 |
| 18 | g.3457438A>C | CA401723272 | TGIF1 | c.257A>C (p.Asn86Thr) c.317A>C (p.Asn106Thr) c.704A>C (p.Asn235Thr) c.*30A>C (n.*30A>C) c.359A>C (p.Asn120Thr) c.326A>C (p.Asn109Thr) | |
| 18 | g.3457438A>G | CA401723273 | TGIF1 | c.257A>G (p.Asn86Ser) c.317A>G (p.Asn106Ser) c.704A>G (p.Asn235Ser) c.*30A>G (n.*30A>G) c.359A>G (p.Asn120Ser) c.326A>G (p.Asn109Ser) | gnomAD v4 |
| 18 | g.3457438A>T | CA401723274 | TGIF1 | c.257A>T (p.Asn86Ile) c.317A>T (p.Asn106Ile) c.704A>T (p.Asn235Ile) c.*30A>T (n.*30A>T) c.359A>T (p.Asn120Ile) c.326A>T (p.Asn109Ile) | |
| 18 | g.3457439T>A | CA401723275 | TGIF1 | c.258T>A (p.Asn86Lys) c.318T>A (p.Asn106Lys) c.705T>A (p.Asn235Lys) c.*31T>A (n.*31T>A) c.360T>A (p.Asn120Lys) c.327T>A (p.Asn109Lys) | |
| 18 | g.3457439T>C | CA502810383 | TGIF1 | c.258T>C (p.Asn86=) c.318T>C (p.Asn106=) c.705T>C (p.Asn235=) c.*31T>C (n.*31T>C) c.360T>C (p.Asn120=) c.327T>C (p.Asn109=) | |
| 18 | g.3457439T>G | CA401723276 | TGIF1 | c.258T>G (p.Asn86Lys) c.318T>G (p.Asn106Lys) c.705T>G (p.Asn235Lys) c.*31T>G (n.*31T>G) c.360T>G (p.Asn120Lys) c.327T>G (p.Asn109Lys) | |
| 18 | g.3457440C>A | CA401723277 | TGIF1 | c.259C>A (p.Gln87Lys) c.319C>A (p.Gln107Lys) c.706C>A (p.Gln236Lys) c.*32C>A (n.*32C>A) c.361C>A (p.Gln121Lys) c.328C>A (p.Gln110Lys) | gnomAD v4 |
| 18 | g.3457440C>G | CA401723278 | TGIF1 | c.259C>G (p.Gln87Glu) c.319C>G (p.Gln107Glu) c.706C>G (p.Gln236Glu) c.*32C>G (n.*32C>G) c.361C>G (p.Gln121Glu) c.328C>G (p.Gln110Glu) | |
| 18 | g.3457440C>T | CA401723279 | TGIF1 | c.259C>T (p.Gln87Ter) c.319C>T (p.Gln107Ter) c.706C>T (p.Gln236Ter) c.*32C>T (n.*32C>T) c.361C>T (p.Gln121Ter) c.328C>T (p.Gln110Ter) | ClinVar |
| 18 | g.3457441A= | CA2281035520 | TGIF1 | c.260A= (p.Gln87=) c.320A= (p.Gln107=) c.707A= (p.Gln236=) c.*33A= (n.*33A=) c.362A= (p.Gln121=) c.329A= (p.Gln110=) | |
| 18 | g.3457441A>C | CA401723280 | TGIF1 | c.260A>C (p.Gln87Pro) c.320A>C (p.Gln107Pro) c.707A>C (p.Gln236Pro) c.*33A>C (n.*33A>C) c.362A>C (p.Gln121Pro) c.329A>C (p.Gln110Pro) | |
| 18 | g.3457441A>G | CA8875928 | TGIF1 | c.260A>G (p.Gln87Arg) c.320A>G (p.Gln107Arg) c.707A>G (p.Gln236Arg) c.*33A>G (n.*33A>G) c.362A>G (p.Gln121Arg) c.329A>G (p.Gln110Arg) | dbSNP ExAC gnomAD v2 |
| 18 | g.3457441A>T | CA254034 | TGIF1 | c.260A>T (p.Gln87Leu) c.320A>T (p.Gln107Leu) c.707A>T (p.Gln236Leu) c.*33A>T (n.*33A>T) c.362A>T (p.Gln121Leu) c.329A>T (p.Gln110Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457442G>A | CA8875929 | TGIF1 | c.261G>A (p.Gln87=) c.321G>A (p.Gln107=) c.708G>A (p.Gln236=) c.*34G>A (n.*34G>A) c.363G>A (p.Gln121=) c.330G>A (p.Gln110=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457442G>C | CA401723281 | TGIF1 | c.261G>C (p.Gln87His) c.321G>C (p.Gln107His) c.708G>C (p.Gln236His) c.*34G>C (n.*34G>C) c.363G>C (p.Gln121His) c.330G>C (p.Gln110His) | |
| 18 | g.3457442G= | CA2281035521 | TGIF1 | c.261G= (p.Gln87=) c.321G= (p.Gln107=) c.708G= (p.Gln236=) c.*34G= (n.*34G=) c.363G= (p.Gln121=) c.330G= (p.Gln110=) | |
| 18 | g.3457442G>T | CA295566999 | TGIF1 | c.261G>T (p.Gln87His) c.321G>T (p.Gln107His) c.708G>T (p.Gln236His) c.*34G>T (n.*34G>T) c.363G>T (p.Gln121His) c.330G>T (p.Gln110His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457443T>A | CA401723282 | TGIF1 | c.262T>A (p.Phe88Ile) c.322T>A (p.Phe108Ile) c.709T>A (p.Phe237Ile) c.*35T>A (n.*35T>A) c.364T>A (p.Phe122Ile) c.331T>A (p.Phe111Ile) | |
| 18 | g.3457443T>C | CA401723283 | TGIF1 | c.262T>C (p.Phe88Leu) c.322T>C (p.Phe108Leu) c.709T>C (p.Phe237Leu) c.*35T>C (n.*35T>C) c.364T>C (p.Phe122Leu) c.331T>C (p.Phe111Leu) | |
| 18 | g.3457443T>G | CA401723284 | TGIF1 | c.262T>G (p.Phe88Val) c.322T>G (p.Phe108Val) c.709T>G (p.Phe237Val) c.*35T>G (n.*35T>G) c.364T>G (p.Phe122Val) c.331T>G (p.Phe111Val) | |
| 18 | g.3457444T>A | CA401723285 | TGIF1 | c.263T>A (p.Phe88Tyr) c.323T>A (p.Phe108Tyr) c.710T>A (p.Phe237Tyr) c.*36T>A (n.*36T>A) c.365T>A (p.Phe122Tyr) c.332T>A (p.Phe111Tyr) | |
| 18 | g.3457444T>C | CA401723286 | TGIF1 | c.263T>C (p.Phe88Ser) c.323T>C (p.Phe108Ser) c.710T>C (p.Phe237Ser) c.*36T>C (n.*36T>C) c.365T>C (p.Phe122Ser) c.332T>C (p.Phe111Ser) | |
| 18 | g.3457444T>G | CA401723287 | TGIF1 | c.263T>G (p.Phe88Cys) c.323T>G (p.Phe108Cys) c.710T>G (p.Phe237Cys) c.*36T>G (n.*36T>G) c.365T>G (p.Phe122Cys) c.332T>G (p.Phe111Cys) | |
| 18 | g.3457444_3457445insACAGACCTGAAATCATATCGGTACGCTTTAA | CA2500979315 | TGIF1 | c.263_264insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe88LeufsTer4) c.323_324insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe108LeufsTer4) c.710_711insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe237LeufsTer4) c.*36_*37insACAGACCTGAAATCATATCGGTACGCTTTAA (n.*36_*37insACAGACCTGAAATCATATCGGTACGCTTTAA) c.365_366insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe122LeufsTer4) c.332_333insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe111LeufsTer4) | |
| 18 | g.3457445C>A | CA401723288 | TGIF1 | c.264C>A (p.Phe88Leu) c.324C>A (p.Phe108Leu) c.711C>A (p.Phe237Leu) c.*37C>A (n.*37C>A) c.366C>A (p.Phe122Leu) c.333C>A (p.Phe111Leu) | |
| 18 | g.3457445C>G | CA401723289 | TGIF1 | c.264C>G (p.Phe88Leu) c.324C>G (p.Phe108Leu) c.711C>G (p.Phe237Leu) c.*37C>G (n.*37C>G) c.366C>G (p.Phe122Leu) c.333C>G (p.Phe111Leu) | |
| 18 | g.3457445C>T | CA502810389 | TGIF1 | c.264C>T (p.Phe88=) c.324C>T (p.Phe108=) c.711C>T (p.Phe237=) c.*37C>T (n.*37C>T) c.366C>T (p.Phe122=) c.333C>T (p.Phe111=) | |
| 18 | g.3457446A>C | CA401723290 | TGIF1 | c.265A>C (p.Thr89Pro) c.325A>C (p.Thr109Pro) c.712A>C (p.Thr238Pro) c.*38A>C (n.*38A>C) c.367A>C (p.Thr123Pro) c.334A>C (p.Thr112Pro) | |
| 18 | g.3457446A>G | CA401723291 | TGIF1 | c.265A>G (p.Thr89Ala) c.325A>G (p.Thr109Ala) c.712A>G (p.Thr238Ala) c.*38A>G (n.*38A>G) c.367A>G (p.Thr123Ala) c.334A>G (p.Thr112Ala) | |
| 18 | g.3457446A>T | CA401723292 | TGIF1 | c.265A>T (p.Thr89Ser) c.325A>T (p.Thr109Ser) c.712A>T (p.Thr238Ser) c.*38A>T (n.*38A>T) c.367A>T (p.Thr123Ser) c.334A>T (p.Thr112Ser) | |
| 18 | g.3457447C>A | CA401723294 | TGIF1 | c.266C>A (p.Thr89Lys) c.326C>A (p.Thr109Lys) c.713C>A (p.Thr238Lys) c.*39C>A (n.*39C>A) c.368C>A (p.Thr123Lys) c.335C>A (p.Thr112Lys) | |
| 18 | g.3457447C>G | CA401723295 | TGIF1 | c.266C>G (p.Thr89Arg) c.326C>G (p.Thr109Arg) c.713C>G (p.Thr238Arg) c.*39C>G (n.*39C>G) c.368C>G (p.Thr123Arg) c.335C>G (p.Thr112Arg) | |
| 18 | g.3457447C>T | CA401723293 | TGIF1 | c.266C>T (p.Thr89Ile) c.326C>T (p.Thr109Ile) c.713C>T (p.Thr238Ile) c.*39C>T (n.*39C>T) c.368C>T (p.Thr123Ile) c.335C>T (p.Thr112Ile) | |
| 18 | g.3457448A= | CA2281035522 | TGIF1 | c.267A= (p.Thr89=) c.327A= (p.Thr109=) c.714A= (p.Thr238=) c.*40A= (n.*40A=) c.369A= (p.Thr123=) c.336A= (p.Thr112=) | |
| 18 | g.3457448A>C | CA502810390 | TGIF1 | c.267A>C (p.Thr89=) c.327A>C (p.Thr109=) c.714A>C (p.Thr238=) c.*40A>C (n.*40A>C) c.369A>C (p.Thr123=) c.336A>C (p.Thr112=) | |
| 18 | g.3457448A>G | CA8875931 | TGIF1 | c.267A>G (p.Thr89=) c.327A>G (p.Thr109=) c.714A>G (p.Thr238=) c.*40A>G (n.*40A>G) c.369A>G (p.Thr123=) c.336A>G (p.Thr112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457448A>T | CA8875930 | TGIF1 | c.267A>T (p.Thr89=) c.327A>T (p.Thr109=) c.714A>T (p.Thr238=) c.*40A>T (n.*40A>T) c.369A>T (p.Thr123=) c.336A>T (p.Thr112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457449A= | CA2281035523 | TGIF1 | c.268A= (p.Ile90=) c.328A= (p.Ile110=) c.715A= (p.Ile239=) c.*41A= (n.*41A=) c.370A= (p.Ile124=) c.337A= (p.Ile113=) | |
| 18 | g.3457449A>C | CA401723296 | TGIF1 | c.268A>C (p.Ile90Leu) c.328A>C (p.Ile110Leu) c.715A>C (p.Ile239Leu) c.*41A>C (n.*41A>C) c.370A>C (p.Ile124Leu) c.337A>C (p.Ile113Leu) | |
| 18 | g.3457449A>G | CA8875932 | TGIF1 | c.268A>G (p.Ile90Val) c.328A>G (p.Ile110Val) c.715A>G (p.Ile239Val) c.*41A>G (n.*41A>G) c.370A>G (p.Ile124Val) c.337A>G (p.Ile113Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457449A>T | CA401723297 | TGIF1 | c.268A>T (p.Ile90Phe) c.328A>T (p.Ile110Phe) c.715A>T (p.Ile239Phe) c.*41A>T (n.*41A>T) c.370A>T (p.Ile124Phe) c.337A>T (p.Ile113Phe) | |
| 18 | g.3457450T>A | CA401723298 | TGIF1 | c.269T>A (p.Ile90Asn) c.329T>A (p.Ile110Asn) c.716T>A (p.Ile239Asn) c.*42T>A (n.*42T>A) c.371T>A (p.Ile124Asn) c.338T>A (p.Ile113Asn) | |
| 18 | g.3457450T>C | CA401723299 | TGIF1 | c.269T>C (p.Ile90Thr) c.329T>C (p.Ile110Thr) c.716T>C (p.Ile239Thr) c.*42T>C (n.*42T>C) c.371T>C (p.Ile124Thr) c.338T>C (p.Ile113Thr) | |
| 18 | g.3457450T>G | CA401723300 | TGIF1 | c.269T>G (p.Ile90Ser) c.329T>G (p.Ile110Ser) c.716T>G (p.Ile239Ser) c.*42T>G (n.*42T>G) c.371T>G (p.Ile124Ser) c.338T>G (p.Ile113Ser) | |
| 18 | g.3457451T>A | CA502810395 | TGIF1 | c.270T>A (p.Ile90=) c.330T>A (p.Ile110=) c.717T>A (p.Ile239=) c.*43T>A (n.*43T>A) c.372T>A (p.Ile124=) c.339T>A (p.Ile113=) | |
| 18 | g.3457451T>C | CA502810396 | TGIF1 | c.270T>C (p.Ile90=) c.330T>C (p.Ile110=) c.717T>C (p.Ile239=) c.*43T>C (n.*43T>C) c.372T>C (p.Ile124=) c.339T>C (p.Ile113=) | gnomAD v4 |
| 18 | g.3457451T>G | CA401723301 | TGIF1 | c.270T>G (p.Ile90Met) c.330T>G (p.Ile110Met) c.717T>G (p.Ile239Met) c.*43T>G (n.*43T>G) c.372T>G (p.Ile124Met) c.339T>G (p.Ile113Met) | COSMIC |
| 18 | g.3457452T>A | CA401723302 | TGIF1 | c.271T>A (p.Ser91Thr) c.331T>A (p.Ser111Thr) c.718T>A (p.Ser240Thr) c.*44T>A (n.*44T>A) c.373T>A (p.Ser125Thr) c.340T>A (p.Ser114Thr) | |
| 18 | g.3457452T>C | CA401723303 | TGIF1 | c.271T>C (p.Ser91Pro) c.331T>C (p.Ser111Pro) c.718T>C (p.Ser240Pro) c.*44T>C (n.*44T>C) c.373T>C (p.Ser125Pro) c.340T>C (p.Ser114Pro) | |
| 18 | g.3457452T>G | CA401723304 | TGIF1 | c.271T>G (p.Ser91Ala) c.331T>G (p.Ser111Ala) c.718T>G (p.Ser240Ala) c.*44T>G (n.*44T>G) c.373T>G (p.Ser125Ala) c.340T>G (p.Ser114Ala) | |
| 18 | g.3457453C>A | CA401723307 | TGIF1 | c.272C>A (p.Ser91Tyr) c.332C>A (p.Ser111Tyr) c.719C>A (p.Ser240Tyr) c.*45C>A (n.*45C>A) c.374C>A (p.Ser125Tyr) c.341C>A (p.Ser114Tyr) | |
| 18 | g.3457453C>G | CA401723306 | TGIF1 | c.272C>G (p.Ser91Cys) c.332C>G (p.Ser111Cys) c.719C>G (p.Ser240Cys) c.*45C>G (n.*45C>G) c.374C>G (p.Ser125Cys) c.341C>G (p.Ser114Cys) | |
| 18 | g.3457453C>T | CA401723305 | TGIF1 | c.272C>T (p.Ser91Phe) c.332C>T (p.Ser111Phe) c.719C>T (p.Ser240Phe) c.*45C>T (n.*45C>T) c.374C>T (p.Ser125Phe) c.341C>T (p.Ser114Phe) | |
| 18 | g.3457454C>A | CA502810398 | TGIF1 | c.273C>A (p.Ser91=) c.333C>A (p.Ser111=) c.720C>A (p.Ser240=) c.*46C>A (n.*46C>A) c.375C>A (p.Ser125=) c.342C>A (p.Ser114=) | |
| 18 | g.3457454C>G | CA502810399 | TGIF1 | c.273C>G (p.Ser91=) c.333C>G (p.Ser111=) c.720C>G (p.Ser240=) c.*46C>G (n.*46C>G) c.375C>G (p.Ser125=) c.342C>G (p.Ser114=) | |
| 18 | g.3457454C>T | CA502810400 | TGIF1 | c.273C>T (p.Ser91=) c.333C>T (p.Ser111=) c.720C>T (p.Ser240=) c.*46C>T (n.*46C>T) c.375C>T (p.Ser125=) c.342C>T (p.Ser114=) | |
| 18 | g.3457455C>A | CA401723308 | TGIF1 | c.274C>A (p.Arg92Ser) c.334C>A (p.Arg112Ser) c.721C>A (p.Arg241Ser) c.274C>A c.*47C>A (n.*47C>A) c.376C>A (p.Arg126Ser) c.343C>A (p.Arg115Ser) | |
| 18 | g.3457455C= | CA2281035524 | TGIF1 | c.274C= (p.Arg92=) c.334C= (p.Arg112=) c.721C= (p.Arg241=) c.274C= c.*47C= (n.*47C=) c.376C= (p.Arg126=) c.343C= (p.Arg115=) | |
| 18 | g.3457455C>G | CA401723309 | TGIF1 | c.274C>G (p.Arg92Gly) c.334C>G (p.Arg112Gly) c.721C>G (p.Arg241Gly) c.274C>G c.*47C>G (n.*47C>G) c.376C>G (p.Arg126Gly) c.343C>G (p.Arg115Gly) | |
| 18 | g.3457455C>T | CA8875933 | TGIF1 | c.274C>T (p.Arg92Cys) c.334C>T (p.Arg112Cys) c.721C>T (p.Arg241Cys) c.274C>T c.*47C>T (n.*47C>T) c.376C>T (p.Arg126Cys) c.343C>T (p.Arg115Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457456G>A | CA401723310 | TGIF1 | c.275G>A (p.Arg92His) c.335G>A (p.Arg112His) c.722G>A (p.Arg241His) c.275G>A c.*48G>A (n.*48G>A) c.377G>A (p.Arg126His) c.344G>A (p.Arg115His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457456G>C | CA401723311 | TGIF1 | c.275G>C (p.Arg92Pro) c.335G>C (p.Arg112Pro) c.722G>C (p.Arg241Pro) c.275G>C c.*48G>C (n.*48G>C) c.377G>C (p.Arg126Pro) c.344G>C (p.Arg115Pro) | |
| 18 | g.3457456G= | CA2281035525 | TGIF1 | c.275G= (p.Arg92=) c.335G= (p.Arg112=) c.722G= (p.Arg241=) c.275G= c.*48G= (n.*48G=) c.377G= (p.Arg126=) c.344G= (p.Arg115=) | |
| 18 | g.3457456G>T | CA401723312 | TGIF1 | c.275G>T (p.Arg92Leu) c.335G>T (p.Arg112Leu) c.722G>T (p.Arg241Leu) c.275G>T c.*48G>T (n.*48G>T) c.377G>T (p.Arg126Leu) c.344G>T (p.Arg115Leu) | dbSNP gnomAD v4 |
| 18 | g.3457457C>A | CA502810402 | TGIF1 | c.276C>A (p.Arg92=) c.336C>A (p.Arg112=) c.723C>A (p.Arg241=) c.*49C>A (n.*49C>A) c.378C>A (p.Arg126=) c.345C>A (p.Arg115=) | |
| 18 | g.3457457C= | CA2281035526 | TGIF1 | c.276C= (p.Arg92=) c.336C= (p.Arg112=) c.723C= (p.Arg241=) c.*49C= (n.*49C=) c.378C= (p.Arg126=) c.345C= (p.Arg115=) | |
| 18 | g.3457457C>G | CA502810404 | TGIF1 | c.276C>G (p.Arg92=) c.336C>G (p.Arg112=) c.723C>G (p.Arg241=) c.*49C>G (n.*49C>G) c.378C>G (p.Arg126=) c.345C>G (p.Arg115=) | |
| 18 | g.3457457C>T | CA295567020 | TGIF1 | c.276C>T (p.Arg92=) c.336C>T (p.Arg112=) c.723C>T (p.Arg241=) c.*49C>T (n.*49C>T) c.378C>T (p.Arg126=) c.345C>T (p.Arg115=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457458C>A | CA401723313 | TGIF1 | c.277C>A (p.Arg93Ser) c.337C>A (p.Arg113Ser) c.724C>A (p.Arg242Ser) c.*50C>A (n.*50C>A) c.379C>A (p.Arg127Ser) c.346C>A (p.Arg116Ser) | |
| 18 | g.3457458C= | CA2281035527 | TGIF1 | c.277C= (p.Arg93=) c.337C= (p.Arg113=) c.724C= (p.Arg242=) c.*50C= (n.*50C=) c.379C= (p.Arg127=) c.346C= (p.Arg116=) | |
| 18 | g.3457458C>G | CA401723314 | TGIF1 | c.277C>G (p.Arg93Gly) c.337C>G (p.Arg113Gly) c.724C>G (p.Arg242Gly) c.*50C>G (n.*50C>G) c.379C>G (p.Arg127Gly) c.346C>G (p.Arg116Gly) | |
| 18 | g.3457458C>T | CA8875934 | TGIF1 | c.277C>T (p.Arg93Cys) c.337C>T (p.Arg113Cys) c.724C>T (p.Arg242Cys) c.*50C>T (n.*50C>T) c.379C>T (p.Arg127Cys) c.346C>T (p.Arg116Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457459G>A | CA8875935 | TGIF1 | c.278G>A (p.Arg93His) c.338G>A (p.Arg113His) c.725G>A (p.Arg242His) c.*51G>A (n.*51G>A) c.380G>A (p.Arg127His) c.347G>A (p.Arg116His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457459G>C | CA401723315 | TGIF1 | c.278G>C (p.Arg93Pro) c.338G>C (p.Arg113Pro) c.725G>C (p.Arg242Pro) c.*51G>C (n.*51G>C) c.380G>C (p.Arg127Pro) c.347G>C (p.Arg116Pro) | gnomAD v4 |
| 18 | g.3457459G= | CA2281035528 | TGIF1 | c.278G= (p.Arg93=) c.338G= (p.Arg113=) c.725G= (p.Arg242=) c.*51G= (n.*51G=) c.380G= (p.Arg127=) c.347G= (p.Arg116=) | |
| 18 | g.3457459G>T | CA401723316 | TGIF1 | c.278G>T (p.Arg93Leu) c.338G>T (p.Arg113Leu) c.725G>T (p.Arg242Leu) c.*51G>T (n.*51G>T) c.380G>T (p.Arg127Leu) c.347G>T (p.Arg116Leu) | |
| 18 | g.3457460T>A | CA502810406 | TGIF1 | c.279T>A (p.Arg93=) c.339T>A (p.Arg113=) c.726T>A (p.Arg242=) c.*52T>A (n.*52T>A) c.381T>A (p.Arg127=) c.348T>A (p.Arg116=) | |
| 18 | g.3457460T>C | CA502810407 | TGIF1 | c.279T>C (p.Arg93=) c.339T>C (p.Arg113=) c.726T>C (p.Arg242=) c.*52T>C (n.*52T>C) c.381T>C (p.Arg127=) c.348T>C (p.Arg116=) | gnomAD v4 |
| 18 | g.3457460T>G | CA502810408 | TGIF1 | c.279T>G (p.Arg93=) c.339T>G (p.Arg113=) c.726T>G (p.Arg242=) c.*52T>G (n.*52T>G) c.381T>G (p.Arg127=) c.348T>G (p.Arg116=) | |
| 18 | g.3457461G>A | CA401723317 | TGIF1 | c.280G>A (p.Gly94Arg) c.340G>A (p.Gly114Arg) c.727G>A (p.Gly243Arg) c.*53G>A (n.*53G>A) c.382G>A (p.Gly128Arg) c.349G>A (p.Gly117Arg) | |
| 18 | g.3457461G>C | CA401723319 | TGIF1 | c.280G>C (p.Gly94Arg) c.340G>C (p.Gly114Arg) c.727G>C (p.Gly243Arg) c.*53G>C (n.*53G>C) c.382G>C (p.Gly128Arg) c.349G>C (p.Gly117Arg) | |
| 18 | g.3457461G>T | CA401723318 | TGIF1 | c.280G>T (p.Gly94Trp) c.340G>T (p.Gly114Trp) c.727G>T (p.Gly243Trp) c.*53G>T (n.*53G>T) c.382G>T (p.Gly128Trp) c.349G>T (p.Gly117Trp) | |
| 18 | g.3457462G>A | CA401723320 | TGIF1 | c.281G>A (p.Gly94Glu) c.341G>A (p.Gly114Glu) c.728G>A (p.Gly243Glu) c.*54G>A (n.*54G>A) c.383G>A (p.Gly128Glu) c.350G>A (p.Gly117Glu) | |
| 18 | g.3457462G>C | CA401723322 | TGIF1 | c.281G>C (p.Gly94Ala) c.341G>C (p.Gly114Ala) c.728G>C (p.Gly243Ala) c.*54G>C (n.*54G>C) c.383G>C (p.Gly128Ala) c.350G>C (p.Gly117Ala) | gnomAD v4 |
| 18 | g.3457462G>T | CA401723321 | TGIF1 | c.281G>T (p.Gly94Val) c.341G>T (p.Gly114Val) c.728G>T (p.Gly243Val) c.*54G>T (n.*54G>T) c.383G>T (p.Gly128Val) c.350G>T (p.Gly117Val) | |
| 18 | g.3457463G>A | CA502810409 | TGIF1 | c.282G>A (p.Gly94=) c.342G>A (p.Gly114=) c.729G>A (p.Gly243=) c.*55G>A (n.*55G>A) c.384G>A (p.Gly128=) c.351G>A (p.Gly117=) | |
| 18 | g.3457463G>C | CA502810411 | TGIF1 | c.282G>C (p.Gly94=) c.342G>C (p.Gly114=) c.729G>C (p.Gly243=) c.*55G>C (n.*55G>C) c.384G>C (p.Gly128=) c.351G>C (p.Gly117=) | |
| 18 | g.3457463G>T | CA502810412 | TGIF1 | c.282G>T (p.Gly94=) c.342G>T (p.Gly114=) c.729G>T (p.Gly243=) c.*55G>T (n.*55G>T) c.384G>T (p.Gly128=) c.351G>T (p.Gly117=) | |
| 18 | g.3457464G>A | CA295567033 | TGIF1 | c.283G>A (p.Ala95Thr) c.343G>A (p.Ala115Thr) c.730G>A (p.Ala244Thr) c.*56G>A (n.*56G>A) c.385G>A (p.Ala129Thr) c.352G>A (p.Ala118Thr) | dbSNP gnomAD v4 |
| 18 | g.3457464G>C | CA401723323 | TGIF1 | c.283G>C (p.Ala95Pro) c.343G>C (p.Ala115Pro) c.730G>C (p.Ala244Pro) c.*56G>C (n.*56G>C) c.385G>C (p.Ala129Pro) c.352G>C (p.Ala118Pro) | |
| 18 | g.3457464G= | CA2281035529 | TGIF1 | c.283G= (p.Ala95=) c.343G= (p.Ala115=) c.730G= (p.Ala244=) c.*56G= (n.*56G=) c.385G= (p.Ala129=) c.352G= (p.Ala118=) | |
| 18 | g.3457464G>T | CA401723324 | TGIF1 | c.283G>T (p.Ala95Ser) c.343G>T (p.Ala115Ser) c.730G>T (p.Ala244Ser) c.*56G>T (n.*56G>T) c.385G>T (p.Ala129Ser) c.352G>T (p.Ala118Ser) | |
| 18 | g.3457465C>A | CA401723325 | TGIF1 | c.284C>A (p.Ala95Asp) c.344C>A (p.Ala115Asp) c.731C>A (p.Ala244Asp) c.*57C>A (n.*57C>A) c.386C>A (p.Ala129Asp) c.353C>A (p.Ala118Asp) | dbSNP |
| 18 | g.3457465C= | CA2281035530 | TGIF1 | c.284C= (p.Ala95=) c.344C= (p.Ala115=) c.731C= (p.Ala244=) c.*57C= (n.*57C=) c.386C= (p.Ala129=) c.353C= (p.Ala118=) | |
| 18 | g.3457465C>G | CA401723326 | TGIF1 | c.284C>G (p.Ala95Gly) c.344C>G (p.Ala115Gly) c.731C>G (p.Ala244Gly) c.*57C>G (n.*57C>G) c.386C>G (p.Ala129Gly) c.353C>G (p.Ala118Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457465C>T | CA401723327 | TGIF1 | c.284C>T (p.Ala95Val) c.344C>T (p.Ala115Val) c.731C>T (p.Ala244Val) c.*57C>T (n.*57C>T) c.386C>T (p.Ala129Val) c.353C>T (p.Ala118Val) | gnomAD v4 |
| 18 | g.3457466C>A | CA8875936 | TGIF1 | c.285C>A (p.Ala95=) c.345C>A (p.Ala115=) c.732C>A (p.Ala244=) c.*58C>A (n.*58C>A) c.387C>A (p.Ala129=) c.354C>A (p.Ala118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457466C= | CA2281035531 | TGIF1 | c.285C= (p.Ala95=) c.345C= (p.Ala115=) c.732C= (p.Ala244=) c.*58C= (n.*58C=) c.387C= (p.Ala129=) c.354C= (p.Ala118=) | |
| 18 | g.3457466C>G | CA502810413 | TGIF1 | c.285C>G (p.Ala95=) c.345C>G (p.Ala115=) c.732C>G (p.Ala244=) c.*58C>G (n.*58C>G) c.387C>G (p.Ala129=) c.354C>G (p.Ala118=) | |
| 18 | g.3457466C>T | CA502810414 | TGIF1 | c.285C>T (p.Ala95=) c.345C>T (p.Ala115=) c.732C>T (p.Ala244=) c.*58C>T (n.*58C>T) c.387C>T (p.Ala129=) c.354C>T (p.Ala118=) | |
| 18 | g.3457467A= | CA2281035532 | TGIF1 | c.286A= (p.Lys96=) c.346A= (p.Lys116=) c.733A= (p.Lys245=) c.*59A= (n.*59A=) c.388A= (p.Lys130=) c.355A= (p.Lys119=) | |
| 18 | g.3457467A>C | CA401723328 | TGIF1 | c.286A>C (p.Lys96Gln) c.346A>C (p.Lys116Gln) c.733A>C (p.Lys245Gln) c.*59A>C (n.*59A>C) c.388A>C (p.Lys130Gln) c.355A>C (p.Lys119Gln) | |
| 18 | g.3457467A>G | CA8875937 | TGIF1 | c.286A>G (p.Lys96Glu) c.346A>G (p.Lys116Glu) c.733A>G (p.Lys245Glu) c.*59A>G (n.*59A>G) c.388A>G (p.Lys130Glu) c.355A>G (p.Lys119Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457467A>T | CA401723329 | TGIF1 | c.286A>T (p.Lys96Ter) c.346A>T (p.Lys116Ter) c.733A>T (p.Lys245Ter) c.*59A>T (n.*59A>T) c.388A>T (p.Lys130Ter) c.355A>T (p.Lys119Ter) | |
| 18 | g.3457468A= | CA2281035533 | TGIF1 | c.287A= (p.Lys96=) c.347A= (p.Lys116=) c.734A= (p.Lys245=) c.*60A= (n.*60A=) c.389A= (p.Lys130=) c.356A= (p.Lys119=) | |
| 18 | g.3457468A>C | CA401723330 | TGIF1 | c.287A>C (p.Lys96Thr) c.347A>C (p.Lys116Thr) c.734A>C (p.Lys245Thr) c.*60A>C (n.*60A>C) c.389A>C (p.Lys130Thr) c.356A>C (p.Lys119Thr) | |
| 18 | g.3457468A>G | CA401723331 | TGIF1 | c.287A>G (p.Lys96Arg) c.347A>G (p.Lys116Arg) c.734A>G (p.Lys245Arg) c.*60A>G (n.*60A>G) c.389A>G (p.Lys130Arg) c.356A>G (p.Lys119Arg) | dbSNP |
| 18 | g.3457468A>T | CA401723332 | TGIF1 | c.287A>T (p.Lys96Met) c.347A>T (p.Lys116Met) c.734A>T (p.Lys245Met) c.*60A>T (n.*60A>T) c.389A>T (p.Lys130Met) c.356A>T (p.Lys119Met) | |
| 18 | g.3457469G>A | CA502810417 | TGIF1 | c.288G>A (p.Lys96=) c.348G>A (p.Lys116=) c.735G>A (p.Lys245=) c.*61G>A (n.*61G>A) c.390G>A (p.Lys130=) c.357G>A (p.Lys119=) | |
| 18 | g.3457469G>C | CA401723334 | TGIF1 | c.288G>C (p.Lys96Asn) c.348G>C (p.Lys116Asn) c.735G>C (p.Lys245Asn) c.*61G>C (n.*61G>C) c.390G>C (p.Lys130Asn) c.357G>C (p.Lys119Asn) | |
| 18 | g.3457469G>T | CA401723333 | TGIF1 | c.288G>T (p.Lys96Asn) c.348G>T (p.Lys116Asn) c.735G>T (p.Lys245Asn) c.*61G>T (n.*61G>T) c.390G>T (p.Lys130Asn) c.357G>T (p.Lys119Asn) | gnomAD v4 |
| 18 | g.3457470A>C | CA401723335 | TGIF1 | c.289A>C (p.Ile97Leu) c.349A>C (p.Ile117Leu) c.736A>C (p.Ile246Leu) c.*62A>C (n.*62A>C) c.391A>C (p.Ile131Leu) c.358A>C (p.Ile120Leu) | |
| 18 | g.3457470A>G | CA401723336 | TGIF1 | c.289A>G (p.Ile97Val) c.349A>G (p.Ile117Val) c.736A>G (p.Ile246Val) c.*62A>G (n.*62A>G) c.391A>G (p.Ile131Val) c.358A>G (p.Ile120Val) | |
| 18 | g.3457470A>T | CA401723337 | TGIF1 | c.289A>T (p.Ile97Phe) c.349A>T (p.Ile117Phe) c.736A>T (p.Ile246Phe) c.*62A>T (n.*62A>T) c.391A>T (p.Ile131Phe) c.358A>T (p.Ile120Phe) | |
| 18 | g.3457471T>A | CA401723338 | TGIF1 | c.290T>A (p.Ile97Asn) c.350T>A (p.Ile117Asn) c.737T>A (p.Ile246Asn) c.*63T>A (n.*63T>A) c.392T>A (p.Ile131Asn) c.359T>A (p.Ile120Asn) | |
| 18 | g.3457471T>C | CA401723339 | TGIF1 | c.290T>C (p.Ile97Thr) c.350T>C (p.Ile117Thr) c.737T>C (p.Ile246Thr) c.*63T>C (n.*63T>C) c.392T>C (p.Ile131Thr) c.359T>C (p.Ile120Thr) | dbSNP gnomAD v4 |
| 18 | g.3457471T>G | CA401723340 | TGIF1 | c.290T>G (p.Ile97Ser) c.350T>G (p.Ile117Ser) c.737T>G (p.Ile246Ser) c.*63T>G (n.*63T>G) c.392T>G (p.Ile131Ser) c.359T>G (p.Ile120Ser) | |
| 18 | g.3457471T= | CA2281035534 | TGIF1 | c.290T= (p.Ile97=) c.350T= (p.Ile117=) c.737T= (p.Ile246=) c.*63T= (n.*63T=) c.392T= (p.Ile131=) c.359T= (p.Ile120=) | |
| 18 | g.3457472T>A | CA502810418 | TGIF1 | c.291T>A (p.Ile97=) c.351T>A (p.Ile117=) c.738T>A (p.Ile246=) c.*64T>A (n.*64T>A) c.393T>A (p.Ile131=) c.360T>A (p.Ile120=) | |
| 18 | g.3457472T>C | CA502810419 | TGIF1 | c.291T>C (p.Ile97=) c.351T>C (p.Ile117=) c.738T>C (p.Ile246=) c.*64T>C (n.*64T>C) c.393T>C (p.Ile131=) c.360T>C (p.Ile120=) | |
| 18 | g.3457472T>G | CA401723341 | TGIF1 | c.291T>G (p.Ile97Met) c.351T>G (p.Ile117Met) c.738T>G (p.Ile246Met) c.*64T>G (n.*64T>G) c.393T>G (p.Ile131Met) c.360T>G (p.Ile120Met) | |
| 18 | g.3457473T>A | CA401723342 | TGIF1 | c.292T>A (p.Ser98Thr) c.352T>A (p.Ser118Thr) c.739T>A (p.Ser247Thr) c.*65T>A (n.*65T>A) c.394T>A (p.Ser132Thr) c.361T>A (p.Ser121Thr) | |
| 18 | g.3457473T>C | CA401723343 | TGIF1 | c.292T>C (p.Ser98Pro) c.352T>C (p.Ser118Pro) c.739T>C (p.Ser247Pro) c.*65T>C (n.*65T>C) c.394T>C (p.Ser132Pro) c.361T>C (p.Ser121Pro) | |
| 18 | g.3457473T>G | CA401723344 | TGIF1 | c.292T>G (p.Ser98Ala) c.352T>G (p.Ser118Ala) c.739T>G (p.Ser247Ala) c.*65T>G (n.*65T>G) c.394T>G (p.Ser132Ala) c.361T>G (p.Ser121Ala) | |
| 18 | g.3457474C>A | CA401723345 | TGIF1 | c.293C>A (p.Ser98Tyr) c.353C>A (p.Ser118Tyr) c.740C>A (p.Ser247Tyr) c.*66C>A (n.*66C>A) c.395C>A (p.Ser132Tyr) c.362C>A (p.Ser121Tyr) | |
| 18 | g.3457474C>G | CA401723346 | TGIF1 | c.293C>G (p.Ser98Cys) c.353C>G (p.Ser118Cys) c.740C>G (p.Ser247Cys) c.*66C>G (n.*66C>G) c.395C>G (p.Ser132Cys) c.362C>G (p.Ser121Cys) | |
| 18 | g.3457474C>T | CA401723347 | TGIF1 | c.293C>T (p.Ser98Phe) c.353C>T (p.Ser118Phe) c.740C>T (p.Ser247Phe) c.*66C>T (n.*66C>T) c.395C>T (p.Ser132Phe) c.362C>T (p.Ser121Phe) | |
| 18 | g.3457475T>A | CA502810421 | TGIF1 | c.294T>A (p.Ser98=) c.354T>A (p.Ser118=) c.741T>A (p.Ser247=) c.*67T>A (n.*67T>A) c.396T>A (p.Ser132=) c.363T>A (p.Ser121=) | |
| 18 | g.3457475T>C | CA502810422 | TGIF1 | c.294T>C (p.Ser98=) c.354T>C (p.Ser118=) c.741T>C (p.Ser247=) c.*67T>C (n.*67T>C) c.396T>C (p.Ser132=) c.363T>C (p.Ser121=) | |
| 18 | g.3457475T>G | CA502810423 | TGIF1 | c.294T>G (p.Ser98=) c.354T>G (p.Ser118=) c.741T>G (p.Ser247=) c.*67T>G (n.*67T>G) c.396T>G (p.Ser132=) c.363T>G (p.Ser121=) | |
| 18 | g.3457476G>A | CA295567054 | TGIF1 | c.295G>A (p.Glu99Lys) c.355G>A (p.Glu119Lys) c.742G>A (p.Glu248Lys) c.*68G>A (n.*68G>A) c.397G>A (p.Glu133Lys) c.364G>A (p.Glu122Lys) | dbSNP |
| 18 | g.3457476G>C | CA401723349 | TGIF1 | c.295G>C (p.Glu99Gln) c.355G>C (p.Glu119Gln) c.742G>C (p.Glu248Gln) c.*68G>C (n.*68G>C) c.397G>C (p.Glu133Gln) c.364G>C (p.Glu122Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457476G= | CA2281035535 | TGIF1 | c.295G= (p.Glu99=) c.355G= (p.Glu119=) c.742G= (p.Glu248=) c.*68G= (n.*68G=) c.397G= (p.Glu133=) c.364G= (p.Glu122=) | |
| 18 | g.3457476G>T | CA401723348 | TGIF1 | c.295G>T (p.Glu99Ter) c.355G>T (p.Glu119Ter) c.742G>T (p.Glu248Ter) c.*68G>T (n.*68G>T) c.397G>T (p.Glu133Ter) c.364G>T (p.Glu122Ter) | |
| 18 | g.3457477A>C | CA401723350 | TGIF1 | c.296A>C (p.Glu99Ala) c.356A>C (p.Glu119Ala) c.743A>C (p.Glu248Ala) c.*69A>C (n.*69A>C) c.398A>C (p.Glu133Ala) c.365A>C (p.Glu122Ala) | |
| 18 | g.3457477A>G | CA401723351 | TGIF1 | c.296A>G (p.Glu99Gly) c.356A>G (p.Glu119Gly) c.743A>G (p.Glu248Gly) c.*69A>G (n.*69A>G) c.398A>G (p.Glu133Gly) c.365A>G (p.Glu122Gly) | |
| 18 | g.3457477A>T | CA401723352 | TGIF1 | c.296A>T (p.Glu99Val) c.356A>T (p.Glu119Val) c.743A>T (p.Glu248Val) c.*69A>T (n.*69A>T) c.398A>T (p.Glu133Val) c.365A>T (p.Glu122Val) | |
| 18 | g.3457478A>C | CA401723353 | TGIF1 | c.297A>C (p.Glu99Asp) c.357A>C (p.Glu119Asp) c.744A>C (p.Glu248Asp) c.*70A>C (n.*70A>C) c.399A>C (p.Glu133Asp) c.366A>C (p.Glu122Asp) | |
| 18 | g.3457478A>G | CA502810427 | TGIF1 | c.297A>G (p.Glu99=) c.357A>G (p.Glu119=) c.744A>G (p.Glu248=) c.*70A>G (n.*70A>G) c.399A>G (p.Glu133=) c.366A>G (p.Glu122=) | |
| 18 | g.3457478A>T | CA401723354 | TGIF1 | c.297A>T (p.Glu99Asp) c.357A>T (p.Glu119Asp) c.744A>T (p.Glu248Asp) c.*70A>T (n.*70A>T) c.399A>T (p.Glu133Asp) c.366A>T (p.Glu122Asp) | |
| 18 | g.3457479A>C | CA401723355 | TGIF1 | c.298A>C (p.Thr100Pro) c.358A>C (p.Thr120Pro) c.745A>C (p.Thr249Pro) c.*71A>C (n.*71A>C) c.400A>C (p.Thr134Pro) c.367A>C (p.Thr123Pro) | |
| 18 | g.3457479A>G | CA401723356 | TGIF1 | c.298A>G (p.Thr100Ala) c.358A>G (p.Thr120Ala) c.745A>G (p.Thr249Ala) c.*71A>G (n.*71A>G) c.400A>G (p.Thr134Ala) c.367A>G (p.Thr123Ala) | gnomAD v4 |
| 18 | g.3457479A>T | CA401723357 | TGIF1 | c.298A>T (p.Thr100Ser) c.358A>T (p.Thr120Ser) c.745A>T (p.Thr249Ser) c.*71A>T (n.*71A>T) c.400A>T (p.Thr134Ser) c.367A>T (p.Thr123Ser) | |
| 18 | g.3457480C>A | CA401723358 | TGIF1 | c.299C>A (p.Thr100Lys) c.359C>A (p.Thr120Lys) c.746C>A (p.Thr249Lys) c.*72C>A (n.*72C>A) c.401C>A (p.Thr134Lys) c.368C>A (p.Thr123Lys) | |
| 18 | g.3457480C= | CA2281035536 | TGIF1 | c.299C= (p.Thr100=) c.359C= (p.Thr120=) c.746C= (p.Thr249=) c.*72C= (n.*72C=) c.401C= (p.Thr134=) c.368C= (p.Thr123=) | |
| 18 | g.3457480C>G | CA401723359 | TGIF1 | c.299C>G (p.Thr100Arg) c.359C>G (p.Thr120Arg) c.746C>G (p.Thr249Arg) c.*72C>G (n.*72C>G) c.401C>G (p.Thr134Arg) c.368C>G (p.Thr123Arg) | |
| 18 | g.3457480C>T | CA8875938 | TGIF1 | c.299C>T (p.Thr100Met) c.359C>T (p.Thr120Met) c.746C>T (p.Thr249Met) c.*72C>T (n.*72C>T) c.401C>T (p.Thr134Met) c.368C>T (p.Thr123Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457481G>A | CA8875939 | TGIF1 | c.300G>A (p.Thr100=) c.360G>A (p.Thr120=) c.747G>A (p.Thr249=) c.*73G>A (n.*73G>A) c.402G>A (p.Thr134=) c.369G>A (p.Thr123=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457481G>C | CA502810429 | TGIF1 | c.300G>C (p.Thr100=) c.360G>C (p.Thr120=) c.747G>C (p.Thr249=) c.*73G>C (n.*73G>C) c.402G>C (p.Thr134=) c.369G>C (p.Thr123=) | gnomAD v4 |
| 18 | g.3457481G= | CA2281035537 | TGIF1 | c.300G= (p.Thr100=) c.360G= (p.Thr120=) c.747G= (p.Thr249=) c.*73G= (n.*73G=) c.402G= (p.Thr134=) c.369G= (p.Thr123=) | |
| 18 | g.3457481G>T | CA502810430 | TGIF1 | c.300G>T (p.Thr100=) c.360G>T (p.Thr120=) c.747G>T (p.Thr249=) c.*73G>T (n.*73G>T) c.402G>T (p.Thr134=) c.369G>T (p.Thr123=) | |
| 18 | g.3457482A>C | CA401723362 | TGIF1 | c.301A>C (p.Ser101Arg) c.361A>C (p.Ser121Arg) c.748A>C (p.Ser250Arg) c.*74A>C (n.*74A>C) c.403A>C (p.Ser135Arg) c.370A>C (p.Ser124Arg) | |
| 18 | g.3457482A>G | CA401723360 | TGIF1 | c.301A>G (p.Ser101Gly) c.361A>G (p.Ser121Gly) c.748A>G (p.Ser250Gly) c.*74A>G (n.*74A>G) c.403A>G (p.Ser135Gly) c.370A>G (p.Ser124Gly) | |
| 18 | g.3457482A>T | CA401723361 | TGIF1 | c.301A>T (p.Ser101Cys) c.361A>T (p.Ser121Cys) c.748A>T (p.Ser250Cys) c.*74A>T (n.*74A>T) c.403A>T (p.Ser135Cys) c.370A>T (p.Ser124Cys) | |
| 18 | g.3457483G>A | CA401723363 | TGIF1 | c.302G>A (p.Ser101Asn) c.362G>A (p.Ser121Asn) c.749G>A (p.Ser250Asn) c.*75G>A (n.*75G>A) c.404G>A (p.Ser135Asn) c.371G>A (p.Ser124Asn) | |
| 18 | g.3457483G>C | CA401723364 | TGIF1 | c.302G>C (p.Ser101Thr) c.362G>C (p.Ser121Thr) c.749G>C (p.Ser250Thr) c.*75G>C (n.*75G>C) c.404G>C (p.Ser135Thr) c.371G>C (p.Ser124Thr) | |
| 18 | g.3457483G>T | CA401723365 | TGIF1 | c.302G>T (p.Ser101Ile) c.362G>T (p.Ser121Ile) c.749G>T (p.Ser250Ile) c.*75G>T (n.*75G>T) c.404G>T (p.Ser135Ile) c.371G>T (p.Ser124Ile) | |
| 18 | g.3457484C>A | CA401723366 | TGIF1 | c.303C>A (p.Ser101Arg) c.363C>A (p.Ser121Arg) c.750C>A (p.Ser250Arg) c.*76C>A (n.*76C>A) c.405C>A (p.Ser135Arg) c.372C>A (p.Ser124Arg) | |
| 18 | g.3457484C>G | CA401723367 | TGIF1 | c.303C>G (p.Ser101Arg) c.363C>G (p.Ser121Arg) c.750C>G (p.Ser250Arg) c.*76C>G (n.*76C>G) c.405C>G (p.Ser135Arg) c.372C>G (p.Ser124Arg) | gnomAD v4 |
| 18 | g.3457484C>T | CA502810432 | TGIF1 | c.303C>T (p.Ser101=) c.363C>T (p.Ser121=) c.750C>T (p.Ser250=) c.*76C>T (n.*76C>T) c.405C>T (p.Ser135=) c.372C>T (p.Ser124=) | |
| 18 | g.3457485T>A | CA401723368 | TGIF1 | c.304T>A (p.Ser102Thr) c.364T>A (p.Ser122Thr) c.751T>A (p.Ser251Thr) c.*77T>A (n.*77T>A) c.406T>A (p.Ser136Thr) c.373T>A (p.Ser125Thr) | |
| 18 | g.3457485T>C | CA401723369 | TGIF1 | c.304T>C (p.Ser102Pro) c.364T>C (p.Ser122Pro) c.751T>C (p.Ser251Pro) c.*77T>C (n.*77T>C) c.406T>C (p.Ser136Pro) c.373T>C (p.Ser125Pro) | |
| 18 | g.3457485T>G | CA401723370 | TGIF1 | c.304T>G (p.Ser102Ala) c.364T>G (p.Ser122Ala) c.751T>G (p.Ser251Ala) c.*77T>G (n.*77T>G) c.406T>G (p.Ser136Ala) c.373T>G (p.Ser125Ala) | |
| 18 | g.3457486C>A | CA401723371 | TGIF1 | c.305C>A (p.Ser102Tyr) c.365C>A (p.Ser122Tyr) c.752C>A (p.Ser251Tyr) c.*78C>A (n.*78C>A) c.407C>A (p.Ser136Tyr) c.374C>A (p.Ser125Tyr) | |
| 18 | g.3457486C>G | CA401723372 | TGIF1 | c.305C>G (p.Ser102Cys) c.365C>G (p.Ser122Cys) c.752C>G (p.Ser251Cys) c.*78C>G (n.*78C>G) c.407C>G (p.Ser136Cys) c.374C>G (p.Ser125Cys) | |
| 18 | g.3457486C>T | CA401723373 | TGIF1 | c.305C>T (p.Ser102Phe) c.365C>T (p.Ser122Phe) c.752C>T (p.Ser251Phe) c.*78C>T (n.*78C>T) c.407C>T (p.Ser136Phe) c.374C>T (p.Ser125Phe) | |
| 18 | g.3457487T>A | CA502810433 | TGIF1 | c.306T>A (p.Ser102=) c.366T>A (p.Ser122=) c.753T>A (p.Ser251=) c.*79T>A (n.*79T>A) c.408T>A (p.Ser136=) c.375T>A (p.Ser125=) | |
| 18 | g.3457487T>C | CA502810435 | TGIF1 | c.306T>C (p.Ser102=) c.366T>C (p.Ser122=) c.753T>C (p.Ser251=) c.*79T>C (n.*79T>C) c.408T>C (p.Ser136=) c.375T>C (p.Ser125=) | |
| 18 | g.3457487T>G | CA502810436 | TGIF1 | c.306T>G (p.Ser102=) c.366T>G (p.Ser122=) c.753T>G (p.Ser251=) c.*79T>G (n.*79T>G) c.408T>G (p.Ser136=) c.375T>G (p.Ser125=) | |
| 18 | g.3457488G>A | CA401723375 | TGIF1 | c.307G>A (p.Val103Met) c.367G>A (p.Val123Met) c.754G>A (p.Val252Met) c.*80G>A (n.*80G>A) c.409G>A (p.Val137Met) c.376G>A (p.Val126Met) | |
| 18 | g.3457488G>C | CA401723376 | TGIF1 | c.307G>C (p.Val103Leu) c.367G>C (p.Val123Leu) c.754G>C (p.Val252Leu) c.*80G>C (n.*80G>C) c.409G>C (p.Val137Leu) c.376G>C (p.Val126Leu) | gnomAD v4 |
| 18 | g.3457488G>T | CA401723374 | TGIF1 | c.307G>T (p.Val103Leu) c.367G>T (p.Val123Leu) c.754G>T (p.Val252Leu) c.*80G>T (n.*80G>T) c.409G>T (p.Val137Leu) c.376G>T (p.Val126Leu) | |
| 18 | g.3457489T>A | CA401723379 | TGIF1 | c.308T>A (p.Val103Glu) c.368T>A (p.Val123Glu) c.755T>A (p.Val252Glu) c.*81T>A (n.*81T>A) c.410T>A (p.Val137Glu) c.377T>A (p.Val126Glu) | |
| 18 | g.3457489T>C | CA401723377 | TGIF1 | c.308T>C (p.Val103Ala) c.368T>C (p.Val123Ala) c.755T>C (p.Val252Ala) c.*81T>C (n.*81T>C) c.410T>C (p.Val137Ala) c.377T>C (p.Val126Ala) | |
| 18 | g.3457489T>G | CA401723378 | TGIF1 | c.308T>G (p.Val103Gly) c.368T>G (p.Val123Gly) c.755T>G (p.Val252Gly) c.*81T>G (n.*81T>G) c.410T>G (p.Val137Gly) c.377T>G (p.Val126Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457489T= | CA2281035538 | TGIF1 | c.308T= (p.Val103=) c.368T= (p.Val123=) c.755T= (p.Val252=) c.*81T= (n.*81T=) c.410T= (p.Val137=) c.377T= (p.Val126=) | |
| 18 | g.3457490G>A | CA502810440 | TGIF1 | c.309G>A (p.Val103=) c.369G>A (p.Val123=) c.756G>A (p.Val252=) c.*82G>A (n.*82G>A) c.411G>A (p.Val137=) c.378G>A (p.Val126=) | |
| 18 | g.3457490G>C | CA502810441 | TGIF1 | c.309G>C (p.Val103=) c.369G>C (p.Val123=) c.756G>C (p.Val252=) c.*82G>C (n.*82G>C) c.411G>C (p.Val137=) c.378G>C (p.Val126=) | |
| 18 | g.3457490G>T | CA502810442 | TGIF1 | c.309G>T (p.Val103=) c.369G>T (p.Val123=) c.756G>T (p.Val252=) c.*82G>T (n.*82G>T) c.411G>T (p.Val137=) c.378G>T (p.Val126=) | |
| 18 | g.3457491G>A | CA401723380 | TGIF1 | c.310G>A (p.Glu104Lys) c.370G>A (p.Glu124Lys) c.757G>A (p.Glu253Lys) c.*83G>A (n.*83G>A) c.412G>A (p.Glu138Lys) c.379G>A (p.Glu127Lys) | |
| 18 | g.3457491G>C | CA401723381 | TGIF1 | c.310G>C (p.Glu104Gln) c.370G>C (p.Glu124Gln) c.757G>C (p.Glu253Gln) c.*83G>C (n.*83G>C) c.412G>C (p.Glu138Gln) c.379G>C (p.Glu127Gln) | |
| 18 | g.3457491G>T | CA401723382 | TGIF1 | c.310G>T (p.Glu104Ter) c.370G>T (p.Glu124Ter) c.757G>T (p.Glu253Ter) c.*83G>T (n.*83G>T) c.412G>T (p.Glu138Ter) c.379G>T (p.Glu127Ter) | |
| 18 | g.3457492A>C | CA401723383 | TGIF1 | c.311A>C (p.Glu104Ala) c.371A>C (p.Glu124Ala) c.758A>C (p.Glu253Ala) c.*84A>C (n.*84A>C) c.413A>C (p.Glu138Ala) c.380A>C (p.Glu127Ala) | |
| 18 | g.3457492A>G | CA401723384 | TGIF1 | c.311A>G (p.Glu104Gly) c.371A>G (p.Glu124Gly) c.758A>G (p.Glu253Gly) c.*84A>G (n.*84A>G) c.413A>G (p.Glu138Gly) c.380A>G (p.Glu127Gly) | |
| 18 | g.3457492A>T | CA401723385 | TGIF1 | c.311A>T (p.Glu104Val) c.371A>T (p.Glu124Val) c.758A>T (p.Glu253Val) c.*84A>T (n.*84A>T) c.413A>T (p.Glu138Val) c.380A>T (p.Glu127Val) | |
| 18 | g.3457493G>A | CA502810443 | TGIF1 | c.312G>A (p.Glu104=) c.372G>A (p.Glu124=) c.759G>A (p.Glu253=) c.*85G>A (n.*85G>A) c.414G>A (p.Glu138=) c.381G>A (p.Glu127=) | |
| 18 | g.3457493G>C | CA401723386 | TGIF1 | c.312G>C (p.Glu104Asp) c.372G>C (p.Glu124Asp) c.759G>C (p.Glu253Asp) c.*85G>C (n.*85G>C) c.414G>C (p.Glu138Asp) c.381G>C (p.Glu127Asp) | |
| 18 | g.3457493G>T | CA401723387 | TGIF1 | c.312G>T (p.Glu104Asp) c.372G>T (p.Glu124Asp) c.759G>T (p.Glu253Asp) c.*85G>T (n.*85G>T) c.414G>T (p.Glu138Asp) c.381G>T (p.Glu127Asp) | |
| 18 | g.3457494T>A | CA401723388 | TGIF1 | c.313T>A (p.Ser105Thr) c.373T>A (p.Ser125Thr) c.760T>A (p.Ser254Thr) c.*86T>A (n.*86T>A) c.415T>A (p.Ser139Thr) c.382T>A (p.Ser128Thr) | |
| 18 | g.3457494T>C | CA401723389 | TGIF1 | c.313T>C (p.Ser105Pro) c.373T>C (p.Ser125Pro) c.760T>C (p.Ser254Pro) c.*86T>C (n.*86T>C) c.415T>C (p.Ser139Pro) c.382T>C (p.Ser128Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457494T>G | CA401723390 | TGIF1 | c.313T>G (p.Ser105Ala) c.373T>G (p.Ser125Ala) c.760T>G (p.Ser254Ala) c.*86T>G (n.*86T>G) c.415T>G (p.Ser139Ala) c.382T>G (p.Ser128Ala) | gnomAD v4 |
| 18 | g.3457494T= | CA2281035539 | TGIF1 | c.313T= (p.Ser105=) c.373T= (p.Ser125=) c.760T= (p.Ser254=) c.*86T= (n.*86T=) c.415T= (p.Ser139=) c.382T= (p.Ser128=) | |
| 18 | g.3457495C>A | CA401723391 | TGIF1 | c.314C>A (p.Ser105Tyr) c.374C>A (p.Ser125Tyr) c.761C>A (p.Ser254Tyr) c.*87C>A (n.*87C>A) c.416C>A (p.Ser139Tyr) c.383C>A (p.Ser128Tyr) | |
| 18 | g.3457495C>G | CA401723393 | TGIF1 | c.314C>G (p.Ser105Cys) c.374C>G (p.Ser125Cys) c.761C>G (p.Ser254Cys) c.*87C>G (n.*87C>G) c.416C>G (p.Ser139Cys) c.383C>G (p.Ser128Cys) | gnomAD v4 |
| 18 | g.3457495C>T | CA401723392 | TGIF1 | c.314C>T (p.Ser105Phe) c.374C>T (p.Ser125Phe) c.761C>T (p.Ser254Phe) c.*87C>T (n.*87C>T) c.416C>T (p.Ser139Phe) c.383C>T (p.Ser128Phe) | |
| 18 | g.3457496C>A | CA502810447 | TGIF1 | c.315C>A (p.Ser105=) c.375C>A (p.Ser125=) c.762C>A (p.Ser254=) c.*88C>A (n.*88C>A) c.417C>A (p.Ser139=) c.384C>A (p.Ser128=) | gnomAD v4 |
| 18 | g.3457496C= | CA2281035540 | TGIF1 | c.315C= (p.Ser105=) c.375C= (p.Ser125=) c.762C= (p.Ser254=) c.*88C= (n.*88C=) c.417C= (p.Ser139=) c.384C= (p.Ser128=) | |
| 18 | g.3457496C>G | CA502810448 | TGIF1 | c.315C>G (p.Ser105=) c.375C>G (p.Ser125=) c.762C>G (p.Ser254=) c.*88C>G (n.*88C>G) c.417C>G (p.Ser139=) c.384C>G (p.Ser128=) | |
| 18 | g.3457496C>T | CA8875940 | TGIF1 | c.315C>T (p.Ser105=) c.375C>T (p.Ser125=) c.762C>T (p.Ser254=) c.*88C>T (n.*88C>T) c.417C>T (p.Ser139=) c.384C>T (p.Ser128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457497G>A | CA8875941 | TGIF1 | c.316G>A (p.Val106Met) c.376G>A (p.Val126Met) c.763G>A (p.Val255Met) c.*89G>A (n.*89G>A) c.418G>A (p.Val140Met) c.385G>A (p.Val129Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457497G>C | CA401723394 | TGIF1 | c.316G>C (p.Val106Leu) c.376G>C (p.Val126Leu) c.763G>C (p.Val255Leu) c.*89G>C (n.*89G>C) c.418G>C (p.Val140Leu) c.385G>C (p.Val129Leu) | |
| 18 | g.3457497G= | CA2281035541 | TGIF1 | c.316G= (p.Val106=) c.376G= (p.Val126=) c.763G= (p.Val255=) c.*89G= (n.*89G=) c.418G= (p.Val140=) c.385G= (p.Val129=) | |
| 18 | g.3457497G>T | CA401723395 | TGIF1 | c.316G>T (p.Val106Leu) c.376G>T (p.Val126Leu) c.763G>T (p.Val255Leu) c.*89G>T (n.*89G>T) c.418G>T (p.Val140Leu) c.385G>T (p.Val129Leu) | |
| 18 | g.3457498T>A | CA401723396 | TGIF1 | c.317T>A (p.Val106Glu) c.377T>A (p.Val126Glu) c.764T>A (p.Val255Glu) c.*90T>A (n.*90T>A) c.419T>A (p.Val140Glu) c.386T>A (p.Val129Glu) | |
| 18 | g.3457498T>C | CA8875942 | TGIF1 | c.317T>C (p.Val106Ala) c.377T>C (p.Val126Ala) c.764T>C (p.Val255Ala) c.*90T>C (n.*90T>C) c.419T>C (p.Val140Ala) c.386T>C (p.Val129Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457498T>G | CA401723397 | TGIF1 | c.317T>G (p.Val106Gly) c.377T>G (p.Val126Gly) c.764T>G (p.Val255Gly) c.*90T>G (n.*90T>G) c.419T>G (p.Val140Gly) c.386T>G (p.Val129Gly) | |
| 18 | g.3457498T= | CA2281035542 | TGIF1 | c.317T= (p.Val106=) c.377T= (p.Val126=) c.764T= (p.Val255=) c.*90T= (n.*90T=) c.419T= (p.Val140=) c.386T= (p.Val129=) | |
| 18 | g.3457499G>A | CA8875943 | TGIF1 | c.318G>A (p.Val106=) c.378G>A (p.Val126=) c.765G>A (p.Val255=) c.*91G>A (n.*91G>A) c.420G>A (p.Val140=) c.387G>A (p.Val129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457499G>C | CA502810452 | TGIF1 | c.318G>C (p.Val106=) c.378G>C (p.Val126=) c.765G>C (p.Val255=) c.*91G>C (n.*91G>C) c.420G>C (p.Val140=) c.387G>C (p.Val129=) | |
| 18 | g.3457499G= | CA2281035543 | TGIF1 | c.318G= (p.Val106=) c.378G= (p.Val126=) c.765G= (p.Val255=) c.*91G= (n.*91G=) c.420G= (p.Val140=) c.387G= (p.Val129=) | |
| 18 | g.3457499G>T | CA502810453 | TGIF1 | c.318G>T (p.Val106=) c.378G>T (p.Val126=) c.765G>T (p.Val255=) c.*91G>T (n.*91G>T) c.420G>T (p.Val140=) c.387G>T (p.Val129=) | |
| 18 | g.3457500A= | CA2281035544 | TGIF1 | c.319A= (p.Met107=) c.379A= (p.Met127=) c.766A= (p.Met256=) c.*92A= (n.*92A=) c.421A= (p.Met141=) c.388A= (p.Met130=) | |
| 18 | g.3457500A>C | CA401723398 | TGIF1 | c.319A>C (p.Met107Leu) c.379A>C (p.Met127Leu) c.766A>C (p.Met256Leu) c.*92A>C (n.*92A>C) c.421A>C (p.Met141Leu) c.388A>C (p.Met130Leu) | |
| 18 | g.3457500A>G | CA401723399 | TGIF1 | c.319A>G (p.Met107Val) c.379A>G (p.Met127Val) c.766A>G (p.Met256Val) c.*92A>G (n.*92A>G) c.421A>G (p.Met141Val) c.388A>G (p.Met130Val) | dbSNP |
| 18 | g.3457500A>T | CA401723400 | TGIF1 | c.319A>T (p.Met107Leu) c.379A>T (p.Met127Leu) c.766A>T (p.Met256Leu) c.*92A>T (n.*92A>T) c.421A>T (p.Met141Leu) c.388A>T (p.Met130Leu) | |
| 18 | g.3457501T>A | CA401723402 | TGIF1 | c.320T>A (p.Met107Lys) c.380T>A (p.Met127Lys) c.767T>A (p.Met256Lys) c.*93T>A (n.*93T>A) c.422T>A (p.Met141Lys) c.389T>A (p.Met130Lys) | |
| 18 | g.3457501T>C | CA401723403 | TGIF1 | c.320T>C (p.Met107Thr) c.380T>C (p.Met127Thr) c.767T>C (p.Met256Thr) c.*93T>C (n.*93T>C) c.422T>C (p.Met141Thr) c.389T>C (p.Met130Thr) | ClinVar gnomAD v4 |
| 18 | g.3457501T>G | CA401723401 | TGIF1 | c.320T>G (p.Met107Arg) c.380T>G (p.Met127Arg) c.767T>G (p.Met256Arg) c.*93T>G (n.*93T>G) c.422T>G (p.Met141Arg) c.389T>G (p.Met130Arg) | |
| 18 | g.3457502G>A | CA401723404 | TGIF1 | c.321G>A (p.Met107Ile) c.381G>A (p.Met127Ile) c.768G>A (p.Met256Ile) c.*94G>A (n.*94G>A) c.423G>A (p.Met141Ile) c.390G>A (p.Met130Ile) | |
| 18 | g.3457502G>C | CA401723405 | TGIF1 | c.321G>C (p.Met107Ile) c.381G>C (p.Met127Ile) c.768G>C (p.Met256Ile) c.*94G>C (n.*94G>C) c.423G>C (p.Met141Ile) c.390G>C (p.Met130Ile) | |
| 18 | g.3457502G>T | CA401723406 | TGIF1 | c.321G>T (p.Met107Ile) c.381G>T (p.Met127Ile) c.768G>T (p.Met256Ile) c.*94G>T (n.*94G>T) c.423G>T (p.Met141Ile) c.390G>T (p.Met130Ile) | |
| 18 | g.3457503G>A | CA295567097 | TGIF1 | c.322G>A (p.Gly108Ser) c.382G>A (p.Gly128Ser) c.769G>A (p.Gly257Ser) c.*95G>A (n.*95G>A) c.424G>A (p.Gly142Ser) c.391G>A (p.Gly131Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457503G>C | CA401723407 | TGIF1 | c.322G>C (p.Gly108Arg) c.382G>C (p.Gly128Arg) c.769G>C (p.Gly257Arg) c.*95G>C (n.*95G>C) c.424G>C (p.Gly142Arg) c.391G>C (p.Gly131Arg) | |
| 18 | g.3457503G= | CA2281035545 | TGIF1 | c.322G= (p.Gly108=) c.382G= (p.Gly128=) c.769G= (p.Gly257=) c.*95G= (n.*95G=) c.424G= (p.Gly142=) c.391G= (p.Gly131=) | |
| 18 | g.3457503G>T | CA401723408 | TGIF1 | c.322G>T (p.Gly108Cys) c.382G>T (p.Gly128Cys) c.769G>T (p.Gly257Cys) c.*95G>T (n.*95G>T) c.424G>T (p.Gly142Cys) c.391G>T (p.Gly131Cys) | |
| 18 | g.3457504G>A | CA295567103 | TGIF1 | c.323G>A (p.Gly108Asp) c.383G>A (p.Gly128Asp) c.770G>A (p.Gly257Asp) c.*96G>A (n.*96G>A) c.425G>A (p.Gly142Asp) c.392G>A (p.Gly131Asp) | dbSNP |
| 18 | g.3457504G>C | CA401723409 | TGIF1 | c.323G>C (p.Gly108Ala) c.383G>C (p.Gly128Ala) c.770G>C (p.Gly257Ala) c.*96G>C (n.*96G>C) c.425G>C (p.Gly142Ala) c.392G>C (p.Gly131Ala) | |
| 18 | g.3457504G= | CA2281035546 | TGIF1 | c.323G= (p.Gly108=) c.383G= (p.Gly128=) c.770G= (p.Gly257=) c.*96G= (n.*96G=) c.425G= (p.Gly142=) c.392G= (p.Gly131=) | |
| 18 | g.3457504G>T | CA401723410 | TGIF1 | c.323G>T (p.Gly108Val) c.383G>T (p.Gly128Val) c.770G>T (p.Gly257Val) c.*96G>T (n.*96G>T) c.425G>T (p.Gly142Val) c.392G>T (p.Gly131Val) | |
| 18 | g.3457505C>A | CA502810457 | TGIF1 | c.324C>A (p.Gly108=) c.384C>A (p.Gly128=) c.771C>A (p.Gly257=) c.*97C>A (n.*97C>A) c.426C>A (p.Gly142=) c.393C>A (p.Gly131=) | |
| 18 | g.3457505C>G | CA502810458 | TGIF1 | c.324C>G (p.Gly108=) c.384C>G (p.Gly128=) c.771C>G (p.Gly257=) c.*97C>G (n.*97C>G) c.426C>G (p.Gly142=) c.393C>G (p.Gly131=) | |
| 18 | g.3457505C>T | CA502810459 | TGIF1 | c.324C>T (p.Gly108=) c.384C>T (p.Gly128=) c.771C>T (p.Gly257=) c.*97C>T (n.*97C>T) c.426C>T (p.Gly142=) c.393C>T (p.Gly131=) | |
| 18 | g.3457506A>C | CA401723411 | TGIF1 | c.325A>C (p.Ile109Leu) c.385A>C (p.Ile129Leu) c.772A>C (p.Ile258Leu) c.*98A>C (n.*98A>C) c.427A>C (p.Ile143Leu) c.394A>C (p.Ile132Leu) | |
| 18 | g.3457506A>G | CA401723412 | TGIF1 | c.325A>G (p.Ile109Val) c.385A>G (p.Ile129Val) c.772A>G (p.Ile258Val) c.*98A>G (n.*98A>G) c.427A>G (p.Ile143Val) c.394A>G (p.Ile132Val) | gnomAD v4 |
| 18 | g.3457506A>T | CA401723413 | TGIF1 | c.325A>T (p.Ile109Phe) c.385A>T (p.Ile129Phe) c.772A>T (p.Ile258Phe) c.*98A>T (n.*98A>T) c.427A>T (p.Ile143Phe) c.394A>T (p.Ile132Phe) | |
| 18 | g.3457507T>A | CA401723415 | TGIF1 | c.326T>A (p.Ile109Asn) c.386T>A (p.Ile129Asn) c.773T>A (p.Ile258Asn) c.*99T>A (n.*99T>A) c.428T>A (p.Ile143Asn) c.395T>A (p.Ile132Asn) | |
| 18 | g.3457507T>C | CA401723416 | TGIF1 | c.326T>C (p.Ile109Thr) c.386T>C (p.Ile129Thr) c.773T>C (p.Ile258Thr) c.*99T>C (n.*99T>C) c.428T>C (p.Ile143Thr) c.395T>C (p.Ile132Thr) | |
| 18 | g.3457507T>G | CA401723414 | TGIF1 | c.326T>G (p.Ile109Ser) c.386T>G (p.Ile129Ser) c.773T>G (p.Ile258Ser) c.*99T>G (n.*99T>G) c.428T>G (p.Ile143Ser) c.395T>G (p.Ile132Ser) | |
| 18 | g.3457508C>A | CA502810461 | TGIF1 | c.327C>A (p.Ile109=) c.387C>A (p.Ile129=) c.774C>A (p.Ile258=) c.*100C>A (n.*100C>A) c.429C>A (p.Ile143=) c.396C>A (p.Ile132=) | |
| 18 | g.3457508C= | CA2281035547 | TGIF1 | c.327C= (p.Ile109=) c.387C= (p.Ile129=) c.774C= (p.Ile258=) c.*100C= (n.*100C=) c.429C= (p.Ile143=) c.396C= (p.Ile132=) | |
| 18 | g.3457508C>G | CA401723417 | TGIF1 | c.327C>G (p.Ile109Met) c.387C>G (p.Ile129Met) c.774C>G (p.Ile258Met) c.*100C>G (n.*100C>G) c.429C>G (p.Ile143Met) c.396C>G (p.Ile132Met) | |
| 18 | g.3457508C>T | CA502810462 | TGIF1 | c.327C>T (p.Ile109=) c.387C>T (p.Ile129=) c.774C>T (p.Ile258=) c.*100C>T (n.*100C>T) c.429C>T (p.Ile143=) c.396C>T (p.Ile132=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457509A>C | CA401723418 | TGIF1 | c.328A>C (p.Lys110Gln) c.388A>C (p.Lys130Gln) c.775A>C (p.Lys259Gln) c.*101A>C (n.*101A>C) c.430A>C (p.Lys144Gln) c.397A>C (p.Lys133Gln) | |
| 18 | g.3457509A>G | CA401723419 | TGIF1 | c.328A>G (p.Lys110Glu) c.388A>G (p.Lys130Glu) c.775A>G (p.Lys259Glu) c.*101A>G (n.*101A>G) c.430A>G (p.Lys144Glu) c.397A>G (p.Lys133Glu) | gnomAD v4 |
| 18 | g.3457509A>T | CA401723420 | TGIF1 | c.328A>T (p.Lys110Ter) c.388A>T (p.Lys130Ter) c.775A>T (p.Lys259Ter) c.*101A>T (n.*101A>T) c.430A>T (p.Lys144Ter) c.397A>T (p.Lys133Ter) | |
| 18 | g.3457510A= | CA2281035548 | TGIF1 | c.329A= (p.Lys110=) c.389A= (p.Lys130=) c.776A= (p.Lys259=) c.*102A= (n.*102A=) c.431A= (p.Lys144=) c.398A= (p.Lys133=) | |
| 18 | g.3457510A>C | CA401723421 | TGIF1 | c.329A>C (p.Lys110Thr) c.389A>C (p.Lys130Thr) c.776A>C (p.Lys259Thr) c.*102A>C (n.*102A>C) c.431A>C (p.Lys144Thr) c.398A>C (p.Lys133Thr) | |
| 18 | g.3457510A>G | CA8875944 | TGIF1 | c.329A>G (p.Lys110Arg) c.389A>G (p.Lys130Arg) c.776A>G (p.Lys259Arg) c.*102A>G (n.*102A>G) c.431A>G (p.Lys144Arg) c.398A>G (p.Lys133Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457510A>T | CA401723422 | TGIF1 | c.329A>T (p.Lys110Ile) c.389A>T (p.Lys130Ile) c.776A>T (p.Lys259Ile) c.*102A>T (n.*102A>T) c.431A>T (p.Lys144Ile) c.398A>T (p.Lys133Ile) | |
| 18 | g.3457511A>C | CA401723423 | TGIF1 | c.330A>C (p.Lys110Asn) c.390A>C (p.Lys130Asn) c.777A>C (p.Lys259Asn) c.*103A>C (n.*103A>C) c.432A>C (p.Lys144Asn) c.399A>C (p.Lys133Asn) | |
| 18 | g.3457511A>G | CA502810466 | TGIF1 | c.330A>G (p.Lys110=) c.390A>G (p.Lys130=) c.777A>G (p.Lys259=) c.*103A>G (n.*103A>G) c.432A>G (p.Lys144=) c.399A>G (p.Lys133=) | |
| 18 | g.3457511A>T | CA401723424 | TGIF1 | c.330A>T (p.Lys110Asn) c.390A>T (p.Lys130Asn) c.777A>T (p.Lys259Asn) c.*103A>T (n.*103A>T) c.432A>T (p.Lys144Asn) c.399A>T (p.Lys133Asn) | |
| 18 | g.3457512A>C | CA401723425 | TGIF1 | c.331A>C (p.Asn111His) c.391A>C (p.Asn131His) c.778A>C (p.Asn260His) c.*104A>C (n.*104A>C) c.433A>C (p.Asn145His) c.400A>C (p.Asn134His) | |
| 18 | g.3457512A>G | CA401723426 | TGIF1 | c.331A>G (p.Asn111Asp) c.391A>G (p.Asn131Asp) c.778A>G (p.Asn260Asp) c.*104A>G (n.*104A>G) c.433A>G (p.Asn145Asp) c.400A>G (p.Asn134Asp) | |
| 18 | g.3457512A>T | CA401723427 | TGIF1 | c.331A>T (p.Asn111Tyr) c.391A>T (p.Asn131Tyr) c.778A>T (p.Asn260Tyr) c.*104A>T (n.*104A>T) c.433A>T (p.Asn145Tyr) c.400A>T (p.Asn134Tyr) | |
| 18 | g.3457513A>C | CA401723428 | TGIF1 | c.332A>C (p.Asn111Thr) c.392A>C (p.Asn131Thr) c.779A>C (p.Asn260Thr) c.*105A>C (n.*105A>C) c.434A>C (p.Asn145Thr) c.401A>C (p.Asn134Thr) | gnomAD v4 |
| 18 | g.3457513A>G | CA401723429 | TGIF1 | c.332A>G (p.Asn111Ser) c.392A>G (p.Asn131Ser) c.779A>G (p.Asn260Ser) c.*105A>G (n.*105A>G) c.434A>G (p.Asn145Ser) c.401A>G (p.Asn134Ser) | |
| 18 | g.3457513A>T | CA401723430 | TGIF1 | c.332A>T (p.Asn111Ile) c.392A>T (p.Asn131Ile) c.779A>T (p.Asn260Ile) c.*105A>T (n.*105A>T) c.434A>T (p.Asn145Ile) c.401A>T (p.Asn134Ile) | |
| 18 | g.3457514C>A | CA401723432 | TGIF1 | c.333C>A (p.Asn111Lys) c.393C>A (p.Asn131Lys) c.780C>A (p.Asn260Lys) c.*106C>A (n.*106C>A) c.435C>A (p.Asn145Lys) c.402C>A (p.Asn134Lys) | |
| 18 | g.3457514C>G | CA401723431 | TGIF1 | c.333C>G (p.Asn111Lys) c.393C>G (p.Asn131Lys) c.780C>G (p.Asn260Lys) c.*106C>G (n.*106C>G) c.435C>G (p.Asn145Lys) c.402C>G (p.Asn134Lys) | |
| 18 | g.3457514C>T | CA502810467 | TGIF1 | c.333C>T (p.Asn111=) c.393C>T (p.Asn131=) c.780C>T (p.Asn260=) c.*106C>T (n.*106C>T) c.435C>T (p.Asn145=) c.402C>T (p.Asn134=) | |
| 18 | g.3457515T>A | CA401723433 | TGIF1 | c.334T>A (p.Phe112Ile) c.394T>A (p.Phe132Ile) c.781T>A (p.Phe261Ile) c.*107T>A (n.*107T>A) c.436T>A (p.Phe146Ile) c.403T>A (p.Phe135Ile) | |
| 18 | g.3457515T>C | CA401723435 | TGIF1 | c.334T>C (p.Phe112Leu) c.394T>C (p.Phe132Leu) c.781T>C (p.Phe261Leu) c.*107T>C (n.*107T>C) c.436T>C (p.Phe146Leu) c.403T>C (p.Phe135Leu) | |
| 18 | g.3457515T>G | CA401723434 | TGIF1 | c.334T>G (p.Phe112Val) c.394T>G (p.Phe132Val) c.781T>G (p.Phe261Val) c.*107T>G (n.*107T>G) c.436T>G (p.Phe146Val) c.403T>G (p.Phe135Val) | |
| 18 | g.3457516T>A | CA401723436 | TGIF1 | c.335T>A (p.Phe112Tyr) c.395T>A (p.Phe132Tyr) c.782T>A (p.Phe261Tyr) c.*108T>A (n.*108T>A) c.437T>A (p.Phe146Tyr) c.404T>A (p.Phe135Tyr) | |
| 18 | g.3457516T>C | CA401723438 | TGIF1 | c.335T>C (p.Phe112Ser) c.395T>C (p.Phe132Ser) c.782T>C (p.Phe261Ser) c.*108T>C (n.*108T>C) c.437T>C (p.Phe146Ser) c.404T>C (p.Phe135Ser) | |
| 18 | g.3457516T>G | CA401723437 | TGIF1 | c.335T>G (p.Phe112Cys) c.395T>G (p.Phe132Cys) c.782T>G (p.Phe261Cys) c.*108T>G (n.*108T>G) c.437T>G (p.Phe146Cys) c.404T>G (p.Phe135Cys) | |
| 18 | g.3457517C>A | CA401723439 | TGIF1 | c.336C>A (p.Phe112Leu) c.396C>A (p.Phe132Leu) c.783C>A (p.Phe261Leu) c.*109C>A (n.*109C>A) c.438C>A (p.Phe146Leu) c.405C>A (p.Phe135Leu) | dbSNP gnomAD v2 |
| 18 | g.3457517C= | CA2281035549 | TGIF1 | c.336C= (p.Phe112=) c.396C= (p.Phe132=) c.783C= (p.Phe261=) c.*109C= (n.*109C=) c.438C= (p.Phe146=) c.405C= (p.Phe135=) | |
| 18 | g.3457517C>G | CA401723440 | TGIF1 | c.336C>G (p.Phe112Leu) c.396C>G (p.Phe132Leu) c.783C>G (p.Phe261Leu) c.*109C>G (n.*109C>G) c.438C>G (p.Phe146Leu) c.405C>G (p.Phe135Leu) | ClinVar |
| 18 | g.3457517C>T | CA502810469 | TGIF1 | c.336C>T (p.Phe112=) c.396C>T (p.Phe132=) c.783C>T (p.Phe261=) c.*109C>T (n.*109C>T) c.438C>T (p.Phe146=) c.405C>T (p.Phe135=) | |
| 18 | g.3457518A>C | CA401723441 | TGIF1 | c.337A>C (p.Met113Leu) c.397A>C (p.Met133Leu) c.784A>C (p.Met262Leu) c.*110A>C (n.*110A>C) c.439A>C (p.Met147Leu) c.406A>C (p.Met136Leu) | |
| 18 | g.3457518A>G | CA401723443 | TGIF1 | c.337A>G (p.Met113Val) c.397A>G (p.Met133Val) c.784A>G (p.Met262Val) c.*110A>G (n.*110A>G) c.439A>G (p.Met147Val) c.406A>G (p.Met136Val) | |
| 18 | g.3457518A>T | CA401723442 | TGIF1 | c.337A>T (p.Met113Leu) c.397A>T (p.Met133Leu) c.784A>T (p.Met262Leu) c.*110A>T (n.*110A>T) c.439A>T (p.Met147Leu) c.406A>T (p.Met136Leu) | |
| 18 | g.3457519T>A | CA401723444 | TGIF1 | c.338T>A (p.Met113Lys) c.398T>A (p.Met133Lys) c.785T>A (p.Met262Lys) c.*111T>A (n.*111T>A) c.440T>A (p.Met147Lys) c.407T>A (p.Met136Lys) | |
| 18 | g.3457519T>C | CA401723445 | TGIF1 | c.338T>C (p.Met113Thr) c.398T>C (p.Met133Thr) c.785T>C (p.Met262Thr) c.*111T>C (n.*111T>C) c.440T>C (p.Met147Thr) c.407T>C (p.Met136Thr) | |
| 18 | g.3457519T>G | CA401723446 | TGIF1 | c.338T>G (p.Met113Arg) c.398T>G (p.Met133Arg) c.785T>G (p.Met262Arg) c.*111T>G (n.*111T>G) c.440T>G (p.Met147Arg) c.407T>G (p.Met136Arg) | |
| 18 | g.3457520G>A | CA401723447 | TGIF1 | c.339G>A (p.Met113Ile) c.399G>A (p.Met133Ile) c.786G>A (p.Met262Ile) c.*112G>A (n.*112G>A) c.441G>A (p.Met147Ile) c.408G>A (p.Met136Ile) | |
| 18 | g.3457520G>C | CA401723448 | TGIF1 | c.339G>C (p.Met113Ile) c.399G>C (p.Met133Ile) c.786G>C (p.Met262Ile) c.*112G>C (n.*112G>C) c.441G>C (p.Met147Ile) c.408G>C (p.Met136Ile) | |
| 18 | g.3457520G>T | CA401723449 | TGIF1 | c.339G>T (p.Met113Ile) c.399G>T (p.Met133Ile) c.786G>T (p.Met262Ile) c.*112G>T (n.*112G>T) c.441G>T (p.Met147Ile) c.408G>T (p.Met136Ile) | gnomAD v4 |