UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209788538T>A | CA344573017 | IRF6 | c.1286A>T (p.Lys429Met) c.*713A>T (n.*713A>T) c.*796A>T (n.*796A>T) c.1001A>T (p.Lys334Met) | |
| 1 | g.209788538T>C | CA344573019 | IRF6 | c.1286A>G (p.Lys429Arg) c.*713A>G (n.*713A>G) c.*796A>G (n.*796A>G) c.1001A>G (p.Lys334Arg) | gnomAD v4 |
| 1 | g.209788538T>G | CA344573022 | IRF6 | c.1286A>C (p.Lys429Thr) c.*713A>C (n.*713A>C) c.*796A>C (n.*796A>C) c.1001A>C (p.Lys334Thr) | |
| 1 | g.209788539T>A | CA344573025 | IRF6 | c.1285A>T (p.Lys429Ter) c.*712A>T (n.*712A>T) c.*795A>T (n.*795A>T) c.1000A>T (p.Lys334Ter) | |
| 1 | g.209788539T>C | CA344573030 | IRF6 | c.1285A>G (p.Lys429Glu) c.*712A>G (n.*712A>G) c.*795A>G (n.*795A>G) c.1000A>G (p.Lys334Glu) | |
| 1 | g.209788539T>G | CA344573032 | IRF6 | c.1285A>C (p.Lys429Gln) c.*712A>C (n.*712A>C) c.*795A>C (n.*795A>C) c.1000A>C (p.Lys334Gln) | |
| 1 | g.209788540G>A | CA423025715 | IRF6 | c.1284C>T (p.Ile428=) c.*711C>T (n.*711C>T) c.*794C>T (n.*794C>T) c.999C>T (p.Ile333=) | |
| 1 | g.209788540G>C | CA344573035 | IRF6 | c.1284C>G (p.Ile428Met) c.*711C>G (n.*711C>G) c.*794C>G (n.*794C>G) c.999C>G (p.Ile333Met) | gnomAD v4 |
| 1 | g.209788540G>T | CA423025724 | IRF6 | c.1284C>A (p.Ile428=) c.*711C>A (n.*711C>A) c.*794C>A (n.*794C>A) c.999C>A (p.Ile333=) | gnomAD v4 |
| 1 | g.209788541A>C | CA344573039 | IRF6 | c.1283T>G (p.Ile428Ser) c.*710T>G (n.*710T>G) c.*793T>G (n.*793T>G) c.998T>G (p.Ile333Ser) | |
| 1 | g.209788541A>G | CA344573044 | IRF6 | c.1283T>C (p.Ile428Thr) c.*710T>C (n.*710T>C) c.*793T>C (n.*793T>C) c.998T>C (p.Ile333Thr) | |
| 1 | g.209788541A>T | CA344573042 | IRF6 | c.1283T>A (p.Ile428Asn) c.*710T>A (n.*710T>A) c.*793T>A (n.*793T>A) c.998T>A (p.Ile333Asn) | |
| 1 | g.209788542T>A | CA344573048 | IRF6 | c.1282A>T (p.Ile428Phe) c.*709A>T (n.*709A>T) c.*792A>T (n.*792A>T) c.997A>T (p.Ile333Phe) | |
| 1 | g.209788542T>C | CA344573051 | IRF6 | c.1282A>G (p.Ile428Val) c.*709A>G (n.*709A>G) c.*792A>G (n.*792A>G) c.997A>G (p.Ile333Val) | |
| 1 | g.209788542T>G | CA344573053 | IRF6 | c.1282A>C (p.Ile428Leu) c.*709A>C (n.*709A>C) c.*792A>C (n.*792A>C) c.997A>C (p.Ile333Leu) | |
| 1 | g.209788543G>A | CA423025761 | IRF6 | c.1281C>T (p.Asp427=) c.*708C>T (n.*708C>T) c.*791C>T (n.*791C>T) c.996C>T (p.Asp332=) | |
| 1 | g.209788543G>C | CA344573055 | IRF6 | c.1281C>G (p.Asp427Glu) c.*708C>G (n.*708C>G) c.*791C>G (n.*791C>G) c.996C>G (p.Asp332Glu) | |
| 1 | g.209788543G>T | CA344573058 | IRF6 | c.1281C>A (p.Asp427Glu) c.*708C>A (n.*708C>A) c.*791C>A (n.*791C>A) c.996C>A (p.Asp332Glu) | |
| 1 | g.209788544T>A | CA344573068 | IRF6 | c.1280A>T (p.Asp427Val) c.*707A>T (n.*707A>T) c.*790A>T (n.*790A>T) c.995A>T (p.Asp332Val) | |
| 1 | g.209788544T>C | CA344573064 | IRF6 | c.1280A>G (p.Asp427Gly) c.*707A>G (n.*707A>G) c.*790A>G (n.*790A>G) c.995A>G (p.Asp332Gly) | gnomAD v4 |
| 1 | g.209788544T>G | CA344573061 | IRF6 | c.1280A>C (p.Asp427Ala) c.*707A>C (n.*707A>C) c.*790A>C (n.*790A>C) c.995A>C (p.Asp332Ala) | |
| 1 | g.209788544_209788547delinsATAACATCATCAA | CA2586968028 | IRF6 | c.1277_1280delinsTTGATGATGTTAT (p.Pro426_Asp427delinsLeuAspAspValIle) c.*704_*707delinsTTGATGATGTTAT (n.*704_*707delinsTTGATGATGTTAT) c.*787_*790delinsTTGATGATGTTAT (n.*787_*790delinsTTGATGATGTTAT) c.992_995delinsTTGATGATGTTAT (p.Pro331_Asp332delinsLeuAspAspValIle) | |
| 1 | g.209788545C>A | CA344573072 | IRF6 | c.1279G>T (p.Asp427Tyr) c.*706G>T (n.*706G>T) c.*789G>T (n.*789G>T) c.994G>T (p.Asp332Tyr) | ClinVar dbSNP |
| 1 | g.209788545C>G | CA344573090 | IRF6 | c.1279G>C (p.Asp427His) c.*706G>C (n.*706G>C) c.*789G>C (n.*789G>C) c.994G>C (p.Asp332His) | |
| 1 | g.209788545C>T | CA344573093 | IRF6 | c.1279G>A (p.Asp427Asn) c.*706G>A (n.*706G>A) c.*789G>A (n.*789G>A) c.994G>A (p.Asp332Asn) | |
| 1 | g.209788546T>A | CA423025778 | IRF6 | c.1278A>T (p.Pro426=) c.*705A>T (n.*705A>T) c.*788A>T (n.*788A>T) c.993A>T (p.Pro331=) | |
| 1 | g.209788546T>C | CA423025779 | IRF6 | c.1278A>G (p.Pro426=) c.*705A>G (n.*705A>G) c.*788A>G (n.*788A>G) c.993A>G (p.Pro331=) | |
| 1 | g.209788546T>G | CA423025783 | IRF6 | c.1278A>C (p.Pro426=) c.*705A>C (n.*705A>C) c.*788A>C (n.*788A>C) c.993A>C (p.Pro331=) | |
| 1 | g.209788547G>A | CA344573097 | IRF6 | c.1277C>T (p.Pro426Leu) c.*704C>T (n.*704C>T) c.*787C>T (n.*787C>T) c.992C>T (p.Pro331Leu) | |
| 1 | g.209788547G>C | CA344573098 | IRF6 | c.1277C>G (p.Pro426Arg) c.*704C>G (n.*704C>G) c.*787C>G (n.*787C>G) c.992C>G (p.Pro331Arg) | |
| 1 | g.209788547G>T | CA344573102 | IRF6 | c.1277C>A (p.Pro426Gln) c.*704C>A (n.*704C>A) c.*787C>A (n.*787C>A) c.992C>A (p.Pro331Gln) | |
| 1 | g.209788550del | CA2586968029 | IRF6 | c.1277del (p.Pro426GlnfsTer11) c.*704del (n.*704del) c.*787del (n.*787del) c.992del (p.Pro331GlnfsTer11) | |
| 1 | g.209788548G>A | CA344573104 | IRF6 | c.1276C>T (p.Pro426Ser) c.*703C>T (n.*703C>T) c.*786C>T (n.*786C>T) c.991C>T (p.Pro331Ser) | |
| 1 | g.209788548G>C | CA344573109 | IRF6 | c.1276C>G (p.Pro426Ala) c.*703C>G (n.*703C>G) c.*786C>G (n.*786C>G) c.991C>G (p.Pro331Ala) | |
| 1 | g.209788548G>T | CA344573108 | IRF6 | c.1276C>A (p.Pro426Thr) c.*703C>A (n.*703C>A) c.*786C>A (n.*786C>A) c.991C>A (p.Pro331Thr) | |
| 1 | g.209788549G>A | CA36752344 | IRF6 | c.1275C>T (p.Thr425=) c.*702C>T (n.*702C>T) c.*785C>T (n.*785C>T) c.990C>T (p.Thr330=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788549G>C | CA423025808 | IRF6 | c.1275C>G (p.Thr425=) c.*702C>G (n.*702C>G) c.*785C>G (n.*785C>G) c.990C>G (p.Thr330=) | |
| 1 | g.209788549G= | CA2484364803 | IRF6 | c.1275C= (p.Thr425=) c.*702C= (n.*702C=) c.*785C= (n.*785C=) c.990C= (p.Thr330=) | |
| 1 | g.209788549G>T | CA423025831 | IRF6 | c.1275C>A (p.Thr425=) c.*702C>A (n.*702C>A) c.*785C>A (n.*785C>A) c.990C>A (p.Thr330=) | |
| 1 | g.209788550G>A | CA344573111 | IRF6 | c.1274C>T (p.Thr425Ile) c.*701C>T (n.*701C>T) c.*784C>T (n.*784C>T) c.989C>T (p.Thr330Ile) | |
| 1 | g.209788550G>C | CA344573113 | IRF6 | c.1274C>G (p.Thr425Ser) c.*701C>G (n.*701C>G) c.*784C>G (n.*784C>G) c.989C>G (p.Thr330Ser) | |
| 1 | g.209788550G>T | CA344573115 | IRF6 | c.1274C>A (p.Thr425Asn) c.*701C>A (n.*701C>A) c.*784C>A (n.*784C>A) c.989C>A (p.Thr330Asn) | |
| 1 | g.209788551T>A | CA344573120 | IRF6 | c.1273A>T (p.Thr425Ser) c.*700A>T (n.*700A>T) c.*783A>T (n.*783A>T) c.988A>T (p.Thr330Ser) | |
| 1 | g.209788551T>C | CA344573122 | IRF6 | c.1273A>G (p.Thr425Ala) c.*700A>G (n.*700A>G) c.*783A>G (n.*783A>G) c.988A>G (p.Thr330Ala) | |
| 1 | g.209788551T>G | CA344573124 | IRF6 | c.1273A>C (p.Thr425Pro) c.*700A>C (n.*700A>C) c.*783A>C (n.*783A>C) c.988A>C (p.Thr330Pro) | |
| 1 | g.209788552T>A | CA423025854 | IRF6 | c.1272A>T (p.Ser424=) c.*699A>T (n.*699A>T) c.*782A>T (n.*782A>T) c.987A>T (p.Ser329=) | |
| 1 | g.209788552T>C | CA423025858 | IRF6 | c.1272A>G (p.Ser424=) c.*699A>G (n.*699A>G) c.*782A>G (n.*782A>G) c.987A>G (p.Ser329=) | |
| 1 | g.209788552T>G | CA423025859 | IRF6 | c.1272A>C (p.Ser424=) c.*699A>C (n.*699A>C) c.*782A>C (n.*782A>C) c.987A>C (p.Ser329=) | |
| 1 | g.209788553G>A | CA259877 | IRF6 | c.1271C>T (p.Ser424Leu) c.*698C>T (n.*698C>T) c.*781C>T (n.*781C>T) c.986C>T (p.Ser329Leu) | ClinVar dbSNP COSMIC |
| 1 | g.209788553G>C | CA344573128 | IRF6 | c.1271C>G (p.Ser424Ter) c.*698C>G (n.*698C>G) c.*781C>G (n.*781C>G) c.986C>G (p.Ser329Ter) | |
| 1 | g.209788553G= | CA1144229117 | IRF6 | c.1271C= (p.Ser424=) c.*698C= (n.*698C=) c.*781C= (n.*781C=) c.986C= (p.Ser329=) | |
| 1 | g.209788553G>T | CA344573130 | IRF6 | c.1271C>A (p.Ser424Ter) c.*698C>A (n.*698C>A) c.*781C>A (n.*781C>A) c.986C>A (p.Ser329Ter) | |
| 1 | g.209788554A= | CA2484364804 | IRF6 | c.1270T= (p.Ser424=) c.*697T= (n.*697T=) c.*780T= (n.*780T=) c.985T= (p.Ser329=) | |
| 1 | g.209788554A>C | CA344573133 | IRF6 | c.1270T>G (p.Ser424Ala) c.*697T>G (n.*697T>G) c.*780T>G (n.*780T>G) c.985T>G (p.Ser329Ala) | ClinVar dbSNP COSMIC |
| 1 | g.209788554A>G | CA344573137 | IRF6 | c.1270T>C (p.Ser424Pro) c.*697T>C (n.*697T>C) c.*780T>C (n.*780T>C) c.985T>C (p.Ser329Pro) | |
| 1 | g.209788554A>T | CA344573135 | IRF6 | c.1270T>A (p.Ser424Thr) c.*697T>A (n.*697T>A) c.*780T>A (n.*780T>A) c.985T>A (p.Ser329Thr) | |
| 1 | g.209788555G>A | CA423025867 | IRF6 | c.1269C>T (p.Ile423=) c.*696C>T (n.*696C>T) c.*779C>T (n.*779C>T) c.984C>T (p.Ile328=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788555G>C | CA344573138 | IRF6 | c.1269C>G (p.Ile423Met) c.*696C>G (n.*696C>G) c.*779C>G (n.*779C>G) c.984C>G (p.Ile328Met) | |
| 1 | g.209788555G= | CA2484364805 | IRF6 | c.1269C= (p.Ile423=) c.*696C= (n.*696C=) c.*779C= (n.*779C=) c.984C= (p.Ile328=) | |
| 1 | g.209788555G>T | CA423025868 | IRF6 | c.1269C>A (p.Ile423=) c.*696C>A (n.*696C>A) c.*779C>A (n.*779C>A) c.984C>A (p.Ile328=) | |
| 1 | g.209788556A= | CA2484364806 | IRF6 | c.1268T= (p.Ile423=) c.*695T= (n.*695T=) c.*778T= (n.*778T=) c.983T= (p.Ile328=) | |
| 1 | g.209788556A>C | CA344573143 | IRF6 | c.1268T>G (p.Ile423Ser) c.*695T>G (n.*695T>G) c.*778T>G (n.*778T>G) c.983T>G (p.Ile328Ser) | ClinVar dbSNP |
| 1 | g.209788556A>G | CA344573141 | IRF6 | c.1268T>C (p.Ile423Thr) c.*695T>C (n.*695T>C) c.*778T>C (n.*778T>C) c.983T>C (p.Ile328Thr) | |
| 1 | g.209788556A>T | CA344573145 | IRF6 | c.1268T>A (p.Ile423Asn) c.*695T>A (n.*695T>A) c.*778T>A (n.*778T>A) c.983T>A (p.Ile328Asn) | |
| 1 | g.209788557T>A | CA344573148 | IRF6 | c.1267A>T (p.Ile423Phe) c.*694A>T (n.*694A>T) c.*777A>T (n.*777A>T) c.982A>T (p.Ile328Phe) | |
| 1 | g.209788557T>C | CA344573150 | IRF6 | c.1267A>G (p.Ile423Val) c.*694A>G (n.*694A>G) c.*777A>G (n.*777A>G) c.982A>G (p.Ile328Val) | |
| 1 | g.209788557T>G | CA344573151 | IRF6 | c.1267A>C (p.Ile423Leu) c.*694A>C (n.*694A>C) c.*777A>C (n.*777A>C) c.982A>C (p.Ile328Leu) | |
| 1 | g.209788558C>A | CA344573154 | IRF6 | c.1266G>T (p.Gln422His) c.*693G>T (n.*693G>T) c.*776G>T (n.*776G>T) c.981G>T (p.Gln327His) | COSMIC |
| 1 | g.209788558C= | CA2484364807 | IRF6 | c.1266G= (p.Gln422=) c.*693G= (n.*693G=) c.*776G= (n.*776G=) c.981G= (p.Gln327=) | |
| 1 | g.209788558C>G | CA344573156 | IRF6 | c.1266G>C (p.Gln422His) c.*693G>C (n.*693G>C) c.*776G>C (n.*776G>C) c.981G>C (p.Gln327His) | dbSNP COSMIC |
| 1 | g.209788558C>T | CA423025934 | IRF6 | c.1266G>A (p.Gln422=) c.*693G>A (n.*693G>A) c.*776G>A (n.*776G>A) c.981G>A (p.Gln327=) | |
| 1 | g.209788559T>A | CA344573158 | IRF6 | c.1265A>T (p.Gln422Leu) c.*692A>T (n.*692A>T) c.*775A>T (n.*775A>T) c.980A>T (p.Gln327Leu) | |
| 1 | g.209788559T>C | CA344573160 | IRF6 | c.1265A>G (p.Gln422Arg) c.*692A>G (n.*692A>G) c.*775A>G (n.*775A>G) c.980A>G (p.Gln327Arg) | gnomAD v4 |
| 1 | g.209788559T>G | CA344573162 | IRF6 | c.1265A>C (p.Gln422Pro) c.*692A>C (n.*692A>C) c.*775A>C (n.*775A>C) c.980A>C (p.Gln327Pro) | |
| 1 | g.209788560G>A | CA344573164 | IRF6 | c.1264C>T (p.Gln422Ter) c.*691C>T (n.*691C>T) c.*774C>T (n.*774C>T) c.979C>T (p.Gln327Ter) | |
| 1 | g.209788560G>C | CA344573166 | IRF6 | c.1264C>G (p.Gln422Glu) c.*691C>G (n.*691C>G) c.*774C>G (n.*774C>G) c.979C>G (p.Gln327Glu) | |
| 1 | g.209788560G>T | CA344573169 | IRF6 | c.1264C>A (p.Gln422Lys) c.*691C>A (n.*691C>A) c.*774C>A (n.*774C>A) c.979C>A (p.Gln327Lys) | |
| 1 | g.209788561C>A | CA423025952 | IRF6 | c.1263G>T (p.Leu421=) c.*690G>T (n.*690G>T) c.*773G>T (n.*773G>T) c.978G>T (p.Leu326=) | |
| 1 | g.209788561C>G | CA423025956 | IRF6 | c.1263G>C (p.Leu421=) c.*690G>C (n.*690G>C) c.*773G>C (n.*773G>C) c.978G>C (p.Leu326=) | |
| 1 | g.209788561C>T | CA423025960 | IRF6 | c.1263G>A (p.Leu421=) c.*690G>A (n.*690G>A) c.*773G>A (n.*773G>A) c.978G>A (p.Leu326=) | |
| 1 | g.209788562A>C | CA344573172 | IRF6 | c.1262T>G (p.Leu421Arg) c.*689T>G (n.*689T>G) c.*772T>G (n.*772T>G) c.977T>G (p.Leu326Arg) | |
| 1 | g.209788562A>G | CA344573174 | IRF6 | c.1262T>C (p.Leu421Pro) c.*689T>C (n.*689T>C) c.*772T>C (n.*772T>C) c.977T>C (p.Leu326Pro) | |
| 1 | g.209788562A>T | CA344573176 | IRF6 | c.1262T>A (p.Leu421Gln) c.*689T>A (n.*689T>A) c.*772T>A (n.*772T>A) c.977T>A (p.Leu326Gln) | |
| 1 | g.209788563G>A | CA423025999 | IRF6 | c.1261C>T (p.Leu421=) c.*688C>T (n.*688C>T) c.*771C>T (n.*771C>T) c.976C>T (p.Leu326=) | gnomAD v4 |
| 1 | g.209788563G>C | CA344573179 | IRF6 | c.1261C>G (p.Leu421Val) c.*688C>G (n.*688C>G) c.*771C>G (n.*771C>G) c.976C>G (p.Leu326Val) | |
| 1 | g.209788563G>T | CA344573180 | IRF6 | c.1261C>A (p.Leu421Met) c.*688C>A (n.*688C>A) c.*771C>A (n.*771C>A) c.976C>A (p.Leu326Met) | |
| 1 | g.209788564G>A | CA423026028 | IRF6 | c.1260C>T (p.Arg420=) c.*687C>T (n.*687C>T) c.*770C>T (n.*770C>T) c.975C>T (p.Arg325=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788564G>C | CA423026020 | IRF6 | c.1260C>G (p.Arg420=) c.*687C>G (n.*687C>G) c.*770C>G (n.*770C>G) c.975C>G (p.Arg325=) | |
| 1 | g.209788564G= | CA2484364808 | IRF6 | c.1260C= (p.Arg420=) c.*687C= (n.*687C=) c.*770C= (n.*770C=) c.975C= (p.Arg325=) | |
| 1 | g.209788564G>T | CA423026024 | IRF6 | c.1260C>A (p.Arg420=) c.*687C>A (n.*687C>A) c.*770C>A (n.*770C>A) c.975C>A (p.Arg325=) | |
| 1 | g.209788565C>A | CA344573183 | IRF6 | c.1259G>T (p.Arg420Leu) c.*686G>T (n.*686G>T) c.*769G>T (n.*769G>T) c.974G>T (p.Arg325Leu) | |
| 1 | g.209788565C= | CA1141488167 | IRF6 | c.1259G= (p.Arg420=) c.*686G= (n.*686G=) c.*769G= (n.*769G=) c.974G= (p.Arg325=) | |
| 1 | g.209788565C>G | CA344573185 | IRF6 | c.1259G>C (p.Arg420Pro) c.*686G>C (n.*686G>C) c.*769G>C (n.*769G>C) c.974G>C (p.Arg325Pro) | |
| 1 | g.209788565C>T | CA1377153 | IRF6 | c.1259G>A (p.Arg420His) c.*686G>A (n.*686G>A) c.*769G>A (n.*769G>A) c.974G>A (p.Arg325His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788566G>A | CA1377154 | IRF6 | c.1258C>T (p.Arg420Cys) c.*685C>T (n.*685C>T) c.*768C>T (n.*768C>T) c.973C>T (p.Arg325Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788566G>C | CA344573190 | IRF6 | c.1258C>G (p.Arg420Gly) c.*685C>G (n.*685C>G) c.*768C>G (n.*768C>G) c.973C>G (p.Arg325Gly) | |
| 1 | g.209788566G= | CA2484364809 | IRF6 | c.1258C= (p.Arg420=) c.*685C= (n.*685C=) c.*768C= (n.*768C=) c.973C= (p.Arg325=) | |
| 1 | g.209788566G>T | CA344573192 | IRF6 | c.1258C>A (p.Arg420Ser) c.*685C>A (n.*685C>A) c.*768C>A (n.*768C>A) c.973C>A (p.Arg325Ser) | |
| 1 | g.209788567G>A | CA423026060 | IRF6 | c.1257C>T (p.Val419=) c.*684C>T (n.*684C>T) c.*767C>T (n.*767C>T) c.972C>T (p.Val324=) | |
| 1 | g.209788567G>C | CA423026066 | IRF6 | c.1257C>G (p.Val419=) c.*684C>G (n.*684C>G) c.*767C>G (n.*767C>G) c.972C>G (p.Val324=) | |
| 1 | g.209788567G>T | CA423026071 | IRF6 | c.1257C>A (p.Val419=) c.*684C>A (n.*684C>A) c.*767C>A (n.*767C>A) c.972C>A (p.Val324=) | |
| 1 | g.209788568A>C | CA344573195 | IRF6 | c.1256T>G (p.Val419Gly) c.*683T>G (n.*683T>G) c.*766T>G (n.*766T>G) c.971T>G (p.Val324Gly) | |
| 1 | g.209788568A>G | CA344573197 | IRF6 | c.1256T>C (p.Val419Ala) c.*683T>C (n.*683T>C) c.*766T>C (n.*766T>C) c.971T>C (p.Val324Ala) | |
| 1 | g.209788568A>T | CA344573199 | IRF6 | c.1256T>A (p.Val419Asp) c.*683T>A (n.*683T>A) c.*766T>A (n.*766T>A) c.971T>A (p.Val324Asp) | |
| 1 | g.209788570_209788571dup | CA2586968030 | IRF6 | c.1255_1256dup (p.Arg420SerfsTer18) c.*682_*683dup (n.*682_*683dup) c.*765_*766dup (n.*765_*766dup) c.970_971dup (p.Arg325SerfsTer18) | |
| 1 | g.209788569C>A | CA344573203 | IRF6 | c.1255G>T (p.Val419Phe) c.*682G>T (n.*682G>T) c.*765G>T (n.*765G>T) c.970G>T (p.Val324Phe) | |
| 1 | g.209788569C>G | CA344573205 | IRF6 | c.1255G>C (p.Val419Leu) c.*682G>C (n.*682G>C) c.*765G>C (n.*765G>C) c.970G>C (p.Val324Leu) | |
| 1 | g.209788569C>T | CA344573207 | IRF6 | c.1255G>A (p.Val419Ile) c.*682G>A (n.*682G>A) c.*765G>A (n.*765G>A) c.970G>A (p.Val324Ile) | |
| 1 | g.209788570A= | CA2484364810 | IRF6 | c.1254T= (p.Ser418=) c.*681T= (n.*681T=) c.*764T= (n.*764T=) c.969T= (p.Ser323=) | |
| 1 | g.209788570A>C | CA344573208 | IRF6 | c.1254T>G (p.Ser418Arg) c.*681T>G (n.*681T>G) c.*764T>G (n.*764T>G) c.969T>G (p.Ser323Arg) | |
| 1 | g.209788570A>G | CA423026090 | IRF6 | c.1254T>C (p.Ser418=) c.*681T>C (n.*681T>C) c.*764T>C (n.*764T>C) c.969T>C (p.Ser323=) | dbSNP gnomAD v2 |
| 1 | g.209788570A>T | CA344573209 | IRF6 | c.1254T>A (p.Ser418Arg) c.*681T>A (n.*681T>A) c.*764T>A (n.*764T>A) c.969T>A (p.Ser323Arg) | |
| 1 | g.209788571C>A | CA344573210 | IRF6 | c.1253G>T (p.Ser418Ile) c.*680G>T (n.*680G>T) c.*763G>T (n.*763G>T) c.968G>T (p.Ser323Ile) | gnomAD v4 |
| 1 | g.209788571C= | CA2484364811 | IRF6 | c.1253G= (p.Ser418=) c.*680G= (n.*680G=) c.*763G= (n.*763G=) c.968G= (p.Ser323=) | |
| 1 | g.209788571C>G | CA344573212 | IRF6 | c.1253G>C (p.Ser418Thr) c.*680G>C (n.*680G>C) c.*763G>C (n.*763G>C) c.968G>C (p.Ser323Thr) | |
| 1 | g.209788571C>T | CA344573215 | IRF6 | c.1253G>A (p.Ser418Asn) c.*680G>A (n.*680G>A) c.*763G>A (n.*763G>A) c.968G>A (p.Ser323Asn) | dbSNP |
| 1 | g.209788572T>A | CA344573218 | IRF6 | c.1252A>T (p.Ser418Cys) c.*679A>T (n.*679A>T) c.*762A>T (n.*762A>T) c.967A>T (p.Ser323Cys) | |
| 1 | g.209788572T>C | CA344573220 | IRF6 | c.1252A>G (p.Ser418Gly) c.*679A>G (n.*679A>G) c.*762A>G (n.*762A>G) c.967A>G (p.Ser323Gly) | |
| 1 | g.209788572T>G | CA344573222 | IRF6 | c.1252A>C (p.Ser418Arg) c.*679A>C (n.*679A>C) c.*762A>C (n.*762A>C) c.967A>C (p.Ser323Arg) | |
| 1 | g.209788573G>A | CA423026120 | IRF6 | c.1251C>T (p.Gly417=) c.*678C>T (n.*678C>T) c.*761C>T (n.*761C>T) c.966C>T (p.Gly322=) | |
| 1 | g.209788573G>C | CA423026125 | IRF6 | c.1251C>G (p.Gly417=) c.*678C>G (n.*678C>G) c.*761C>G (n.*761C>G) c.966C>G (p.Gly322=) | |
| 1 | g.209788573G>T | CA423026129 | IRF6 | c.1251C>A (p.Gly417=) c.*678C>A (n.*678C>A) c.*761C>A (n.*761C>A) c.966C>A (p.Gly322=) | |
| 1 | g.209788574C>A | CA1377155 | IRF6 | c.1250G>T (p.Gly417Val) c.*677G>T (n.*677G>T) c.*760G>T (n.*760G>T) c.965G>T (p.Gly322Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788574C= | CA2484364812 | IRF6 | c.1250G= (p.Gly417=) c.*677G= (n.*677G=) c.*760G= (n.*760G=) c.965G= (p.Gly322=) | |
| 1 | g.209788574C>G | CA344573225 | IRF6 | c.1250G>C (p.Gly417Ala) c.*677G>C (n.*677G>C) c.*760G>C (n.*760G>C) c.965G>C (p.Gly322Ala) | |
| 1 | g.209788574C>T | CA344573227 | IRF6 | c.1250G>A (p.Gly417Asp) c.*677G>A (n.*677G>A) c.*760G>A (n.*760G>A) c.965G>A (p.Gly322Asp) | |
| 1 | g.209788575C>A | CA344573231 | IRF6 | c.1249G>T (p.Gly417Cys) c.*676G>T (n.*676G>T) c.*759G>T (n.*759G>T) c.964G>T (p.Gly322Cys) | |
| 1 | g.209788575C>G | CA344573232 | IRF6 | c.1249G>C (p.Gly417Arg) c.*676G>C (n.*676G>C) c.*759G>C (n.*759G>C) c.964G>C (p.Gly322Arg) | |
| 1 | g.209788575C>T | CA344573235 | IRF6 | c.1249G>A (p.Gly417Ser) c.*676G>A (n.*676G>A) c.*759G>A (n.*759G>A) c.964G>A (p.Gly322Ser) | |
| 1 | g.209788576A>C | CA344573238 | IRF6 | c.1248T>G (p.Ser416Arg) c.*675T>G (n.*675T>G) c.*758T>G (n.*758T>G) c.963T>G (p.Ser321Arg) | |
| 1 | g.209788576A>G | CA423026157 | IRF6 | c.1248T>C (p.Ser416=) c.*675T>C (n.*675T>C) c.*758T>C (n.*758T>C) c.963T>C (p.Ser321=) | |
| 1 | g.209788576A>T | CA344573241 | IRF6 | c.1248T>A (p.Ser416Arg) c.*675T>A (n.*675T>A) c.*758T>A (n.*758T>A) c.963T>A (p.Ser321Arg) | |
| 1 | g.209788577C>A | CA344573253 | IRF6 | c.1247G>T (p.Ser416Ile) c.*674G>T (n.*674G>T) c.*757G>T (n.*757G>T) c.962G>T (p.Ser321Ile) | |
| 1 | g.209788577C= | CA2484364813 | IRF6 | c.1247G= (p.Ser416=) c.*674G= (n.*674G=) c.*757G= (n.*757G=) c.962G= (p.Ser321=) | |
| 1 | g.209788577C>G | CA344573258 | IRF6 | c.1247G>C (p.Ser416Thr) c.*674G>C (n.*674G>C) c.*757G>C (n.*757G>C) c.962G>C (p.Ser321Thr) | |
| 1 | g.209788577C>T | CA344573256 | IRF6 | c.1247G>A (p.Ser416Asn) c.*674G>A (n.*674G>A) c.*757G>A (n.*757G>A) c.962G>A (p.Ser321Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788578T>A | CA344573261 | IRF6 | c.1246A>T (p.Ser416Cys) c.*673A>T (n.*673A>T) c.*756A>T (n.*756A>T) c.961A>T (p.Ser321Cys) | |
| 1 | g.209788578T>C | CA36752353 | IRF6 | c.1246A>G (p.Ser416Gly) c.*673A>G (n.*673A>G) c.*756A>G (n.*756A>G) c.961A>G (p.Ser321Gly) | dbSNP gnomAD v4 |
| 1 | g.209788578T>G | CA344573265 | IRF6 | c.1246A>C (p.Ser416Arg) c.*673A>C (n.*673A>C) c.*756A>C (n.*756A>C) c.961A>C (p.Ser321Arg) | |
| 1 | g.209788578T= | CA2484364814 | IRF6 | c.1246A= (p.Ser416=) c.*673A= (n.*673A=) c.*756A= (n.*756A=) c.961A= (p.Ser321=) | |
| 1 | g.209788579A>C | CA344573268 | IRF6 | c.1245T>G (p.Asp415Glu) c.*672T>G (n.*672T>G) c.*755T>G (n.*755T>G) c.960T>G (p.Asp320Glu) | ClinVar |
| 1 | g.209788579A>G | CA423026179 | IRF6 | c.1245T>C (p.Asp415=) c.*672T>C (n.*672T>C) c.*755T>C (n.*755T>C) c.960T>C (p.Asp320=) | |
| 1 | g.209788579A>T | CA344573270 | IRF6 | c.1245T>A (p.Asp415Glu) c.*672T>A (n.*672T>A) c.*755T>A (n.*755T>A) c.960T>A (p.Asp320Glu) | |
| 1 | g.209788580T>A | CA344573272 | IRF6 | c.1244A>T (p.Asp415Val) c.*671A>T (n.*671A>T) c.*754A>T (n.*754A>T) c.959A>T (p.Asp320Val) | |
| 1 | g.209788580T>C | CA344573279 | IRF6 | c.1244A>G (p.Asp415Gly) c.*671A>G (n.*671A>G) c.*754A>G (n.*754A>G) c.959A>G (p.Asp320Gly) | |
| 1 | g.209788580T>G | CA344573280 | IRF6 | c.1244A>C (p.Asp415Ala) c.*671A>C (n.*671A>C) c.*754A>C (n.*754A>C) c.959A>C (p.Asp320Ala) | |
| 1 | g.209788581C>A | CA344573284 | IRF6 | c.1243G>T (p.Asp415Tyr) c.*670G>T (n.*670G>T) c.*753G>T (n.*753G>T) c.958G>T (p.Asp320Tyr) | |
| 1 | g.209788581C>G | CA344573293 | IRF6 | c.1243G>C (p.Asp415His) c.*670G>C (n.*670G>C) c.*753G>C (n.*753G>C) c.958G>C (p.Asp320His) | |
| 1 | g.209788581C>T | CA344573295 | IRF6 | c.1243G>A (p.Asp415Asn) c.*670G>A (n.*670G>A) c.*753G>A (n.*753G>A) c.958G>A (p.Asp320Asn) | |
| 1 | g.209788582A>C | CA344573296 | IRF6 | c.1242T>G (p.Phe414Leu) c.*669T>G (n.*669T>G) c.*752T>G (n.*752T>G) c.957T>G (p.Phe319Leu) | |
| 1 | g.209788582A>G | CA423026229 | IRF6 | c.1242T>C (p.Phe414=) c.*669T>C (n.*669T>C) c.*752T>C (n.*752T>C) c.957T>C (p.Phe319=) | |
| 1 | g.209788582A>T | CA344573297 | IRF6 | c.1242T>A (p.Phe414Leu) c.*669T>A (n.*669T>A) c.*752T>A (n.*752T>A) c.957T>A (p.Phe319Leu) | |
| 1 | g.209788583A>C | CA344573299 | IRF6 | c.1241T>G (p.Phe414Cys) c.*668T>G (n.*668T>G) c.*751T>G (n.*751T>G) c.956T>G (p.Phe319Cys) | |
| 1 | g.209788583A>G | CA344573303 | IRF6 | c.1241T>C (p.Phe414Ser) c.*668T>C (n.*668T>C) c.*751T>C (n.*751T>C) c.956T>C (p.Phe319Ser) | |
| 1 | g.209788583A>T | CA344573301 | IRF6 | c.1241T>A (p.Phe414Tyr) c.*668T>A (n.*668T>A) c.*751T>A (n.*751T>A) c.956T>A (p.Phe319Tyr) | |
| 1 | g.209788584A>C | CA344573305 | IRF6 | c.1240T>G (p.Phe414Val) c.*667T>G (n.*667T>G) c.*750T>G (n.*750T>G) c.955T>G (p.Phe319Val) | |
| 1 | g.209788584A>G | CA344573307 | IRF6 | c.1240T>C (p.Phe414Leu) c.*667T>C (n.*667T>C) c.*750T>C (n.*750T>C) c.955T>C (p.Phe319Leu) | |
| 1 | g.209788584A>T | CA344573310 | IRF6 | c.1240T>A (p.Phe414Ile) c.*667T>A (n.*667T>A) c.*750T>A (n.*750T>A) c.955T>A (p.Phe319Ile) | |
| 1 | g.209788585G>A | CA423026282 | IRF6 | c.1239C>T (p.Ser413=) c.*666C>T (n.*666C>T) c.*749C>T (n.*749C>T) c.954C>T (p.Ser318=) | gnomAD v4 |
| 1 | g.209788585G>C | CA423026280 | IRF6 | c.1239C>G (p.Ser413=) c.*666C>G (n.*666C>G) c.*749C>G (n.*749C>G) c.954C>G (p.Ser318=) | dbSNP |
| 1 | g.209788585G= | CA2484364815 | IRF6 | c.1239C= (p.Ser413=) c.*666C= (n.*666C=) c.*749C= (n.*749C=) c.954C= (p.Ser318=) | |
| 1 | g.209788585G>T | CA423026278 | IRF6 | c.1239C>A (p.Ser413=) c.*666C>A (n.*666C>A) c.*749C>A (n.*749C>A) c.954C>A (p.Ser318=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209788586G>A | CA344573313 | IRF6 | c.1238C>T (p.Ser413Phe) c.*665C>T (n.*665C>T) c.*748C>T (n.*748C>T) c.953C>T (p.Ser318Phe) | COSMIC |
| 1 | g.209788586G>C | CA344573315 | IRF6 | c.1238C>G (p.Ser413Cys) c.*665C>G (n.*665C>G) c.*748C>G (n.*748C>G) c.953C>G (p.Ser318Cys) | |
| 1 | g.209788586G>T | CA344573316 | IRF6 | c.1238C>A (p.Ser413Tyr) c.*665C>A (n.*665C>A) c.*748C>A (n.*748C>A) c.953C>A (p.Ser318Tyr) | |
| 1 | g.209788587A>C | CA344573319 | IRF6 | c.1237T>G (p.Ser413Ala) c.*664T>G (n.*664T>G) c.*747T>G (n.*747T>G) c.952T>G (p.Ser318Ala) | |
| 1 | g.209788587A>G | CA344573320 | IRF6 | c.1237T>C (p.Ser413Pro) c.*664T>C (n.*664T>C) c.*747T>C (n.*747T>C) c.952T>C (p.Ser318Pro) | |
| 1 | g.209788587A>T | CA344573322 | IRF6 | c.1237T>A (p.Ser413Thr) c.*664T>A (n.*664T>A) c.*747T>A (n.*747T>A) c.952T>A (p.Ser318Thr) | |
| 1 | g.209788588T>A | CA423026316 | IRF6 | c.1236A>T (p.Arg412=) c.*663A>T (n.*663A>T) c.*746A>T (n.*746A>T) c.951A>T (p.Arg317=) | |
| 1 | g.209788588T>C | CA423026318 | IRF6 | c.1236A>G (p.Arg412=) c.*663A>G (n.*663A>G) c.*746A>G (n.*746A>G) c.951A>G (p.Arg317=) | |
| 1 | g.209788588T>G | CA423026328 | IRF6 | c.1236A>C (p.Arg412=) c.*663A>C (n.*663A>C) c.*746A>C (n.*746A>C) c.951A>C (p.Arg317=) | |
| 1 | g.209788589C>A | CA344573324 | IRF6 | c.1235G>T (p.Arg412Leu) c.*662G>T (n.*662G>T) c.*745G>T (n.*745G>T) c.950G>T (p.Arg317Leu) | gnomAD v4 |
| 1 | g.209788589C= | CA2484364816 | IRF6 | c.1235G= (p.Arg412=) c.*662G= (n.*662G=) c.*745G= (n.*745G=) c.950G= (p.Arg317=) | |
| 1 | g.209788589C>G | CA344573326 | IRF6 | c.1235G>C (p.Arg412Pro) c.*662G>C (n.*662G>C) c.*745G>C (n.*745G>C) c.950G>C (p.Arg317Pro) | dbSNP |
| 1 | g.209788589C>T | CA344573329 | IRF6 | c.1235G>A (p.Arg412Gln) c.*662G>A (n.*662G>A) c.*745G>A (n.*745G>A) c.950G>A (p.Arg317Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209788589dup | CA2586968031 | IRF6 | c.1235dup (p.Ser413IlefsTer3) c.*662dup (n.*662dup) c.*745dup (n.*745dup) c.950dup (p.Ser318IlefsTer3) | |
| 1 | g.209788590del | CA2586968032 | IRF6 | c.1234del (p.Arg412AspfsTer25) c.*661del (n.*661del) c.*744del (n.*744del) c.949del (p.Arg317AspfsTer25) | |
| 1 | g.209788590G>A | CA344573331 | IRF6 | c.1234C>T (p.Arg412Ter) c.*661C>T (n.*661C>T) c.*744C>T (n.*744C>T) c.949C>T (p.Arg317Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.209788590G>C | CA344573334 | IRF6 | c.1234C>G (p.Arg412Gly) c.*661C>G (n.*661C>G) c.*744C>G (n.*744C>G) c.949C>G (p.Arg317Gly) | |
| 1 | g.209788590G= | CA2484364817 | IRF6 | c.1234C= (p.Arg412=) c.*661C= (n.*661C=) c.*744C= (n.*744C=) c.949C= (p.Arg317=) | |
| 1 | g.209788590G>T | CA423026350 | IRF6 | c.1234C>A (p.Arg412=) c.*661C>A (n.*661C>A) c.*744C>A (n.*744C>A) c.949C>A (p.Arg317=) | |
| 1 | g.209788591T>A | CA423026361 | IRF6 | c.1233A>T (p.Thr411=) c.*660A>T (n.*660A>T) c.*743A>T (n.*743A>T) c.948A>T (p.Thr316=) | |
| 1 | g.209788591T>C | CA423026373 | IRF6 | c.1233A>G (p.Thr411=) c.*660A>G (n.*660A>G) c.*743A>G (n.*743A>G) c.948A>G (p.Thr316=) | |
| 1 | g.209788591T>G | CA423026369 | IRF6 | c.1233A>C (p.Thr411=) c.*660A>C (n.*660A>C) c.*743A>C (n.*743A>C) c.948A>C (p.Thr316=) | |
| 1 | g.209788592G>A | CA344573336 | IRF6 | c.1232C>T (p.Thr411Ile) c.*659C>T (n.*659C>T) c.*742C>T (n.*742C>T) c.947C>T (p.Thr316Ile) | |
| 1 | g.209788592G>C | CA344573338 | IRF6 | c.1232C>G (p.Thr411Arg) c.*659C>G (n.*659C>G) c.*742C>G (n.*742C>G) c.947C>G (p.Thr316Arg) | |
| 1 | g.209788592G>T | CA344573341 | IRF6 | c.1232C>A (p.Thr411Lys) c.*659C>A (n.*659C>A) c.*742C>A (n.*742C>A) c.947C>A (p.Thr316Lys) | |
| 1 | g.209788593T>A | CA344573344 | IRF6 | c.1231A>T (p.Thr411Ser) c.*658A>T (n.*658A>T) c.*741A>T (n.*741A>T) c.946A>T (p.Thr316Ser) | |
| 1 | g.209788593T>C | CA344573345 | IRF6 | c.1231A>G (p.Thr411Ala) c.*658A>G (n.*658A>G) c.*741A>G (n.*741A>G) c.946A>G (p.Thr316Ala) | |
| 1 | g.209788593T>G | CA344573347 | IRF6 | c.1231A>C (p.Thr411Pro) c.*658A>C (n.*658A>C) c.*741A>C (n.*741A>C) c.946A>C (p.Thr316Pro) | |
| 1 | g.209788593_209788603delinsTGAAATCACCA | CA2484364818 | IRF6 | c.1221_1231delinsTGGTGATTTCA (p.Ser407=) c.*648_*658delinsTGGTGATTTCA (n.*648_*658delinsTGGTGATTTCA) c.*731_*741delinsTGGTGATTTCA (n.*731_*741delinsTGGTGATTTCA) c.936_946delinsTGGTGATTTCA (p.Ser312=) | |
| 1 | g.209788594G>A | CA36752354 | IRF6 | c.1230C>T (p.Phe410=) c.*657C>T (n.*657C>T) c.*740C>T (n.*740C>T) c.945C>T (p.Phe315=) | dbSNP |
| 1 | g.209788594G>C | CA344573350 | IRF6 | c.1230C>G (p.Phe410Leu) c.*657C>G (n.*657C>G) c.*740C>G (n.*740C>G) c.945C>G (p.Phe315Leu) | |
| 1 | g.209788594G= | CA2484364819 | IRF6 | c.1230C= (p.Phe410=) c.*657C= (n.*657C=) c.*740C= (n.*740C=) c.945C= (p.Phe315=) | |
| 1 | g.209788594G>T | CA344573351 | IRF6 | c.1230C>A (p.Phe410Leu) c.*657C>A (n.*657C>A) c.*740C>A (n.*740C>A) c.945C>A (p.Phe315Leu) | |
| 1 | g.209788598_209788607del | CA16603308 | IRF6 | c.1221_1230del (p.Gly408HisfsTer26) c.*648_*657del (n.*648_*657del) c.*731_*740del (n.*731_*740del) c.936_945del (p.Gly313HisfsTer26) | ClinVar dbSNP |
| 1 | g.209788595A>C | CA344573352 | IRF6 | c.1229T>G (p.Phe410Cys) c.*656T>G (n.*656T>G) c.*739T>G (n.*739T>G) c.944T>G (p.Phe315Cys) | |
| 1 | g.209788595A>G | CA344573354 | IRF6 | c.1229T>C (p.Phe410Ser) c.*656T>C (n.*656T>C) c.*739T>C (n.*739T>C) c.944T>C (p.Phe315Ser) | |
| 1 | g.209788595A>T | CA344573357 | IRF6 | c.1229T>A (p.Phe410Tyr) c.*656T>A (n.*656T>A) c.*739T>A (n.*739T>A) c.944T>A (p.Phe315Tyr) | |
| 1 | g.209788596A= | CA2484364820 | IRF6 | c.1228T= (p.Phe410=) c.*655T= (n.*655T=) c.*738T= (n.*738T=) c.943T= (p.Phe315=) | |
| 1 | g.209788596A>C | CA344573361 | IRF6 | c.1228T>G (p.Phe410Val) c.*655T>G (n.*655T>G) c.*738T>G (n.*738T>G) c.943T>G (p.Phe315Val) | |
| 1 | g.209788596A>G | CA344573363 | IRF6 | c.1228T>C (p.Phe410Leu) c.*655T>C (n.*655T>C) c.*738T>C (n.*738T>C) c.943T>C (p.Phe315Leu) | |
| 1 | g.209788596A>T | CA344573359 | IRF6 | c.1228T>A (p.Phe410Ile) c.*655T>A (n.*655T>A) c.*738T>A (n.*738T>A) c.943T>A (p.Phe315Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788597A>C | CA344573365 | IRF6 | c.1227T>G (p.Asp409Glu) c.*654T>G (n.*654T>G) c.*737T>G (n.*737T>G) c.942T>G (p.Asp314Glu) | |
| 1 | g.209788597A>G | CA423026443 | IRF6 | c.1227T>C (p.Asp409=) c.*654T>C (n.*654T>C) c.*737T>C (n.*737T>C) c.942T>C (p.Asp314=) | |
| 1 | g.209788597A>T | CA344573366 | IRF6 | c.1227T>A (p.Asp409Glu) c.*654T>A (n.*654T>A) c.*737T>A (n.*737T>A) c.942T>A (p.Asp314Glu) | |
| 1 | g.209788598T>A | CA344573368 | IRF6 | c.1226A>T (p.Asp409Val) c.*653A>T (n.*653A>T) c.*736A>T (n.*736A>T) c.941A>T (p.Asp314Val) | |
| 1 | g.209788598T>C | CA344573369 | IRF6 | c.1226A>G (p.Asp409Gly) c.*653A>G (n.*653A>G) c.*736A>G (n.*736A>G) c.941A>G (p.Asp314Gly) | |
| 1 | g.209788598T>G | CA344573370 | IRF6 | c.1226A>C (p.Asp409Ala) c.*653A>C (n.*653A>C) c.*736A>C (n.*736A>C) c.941A>C (p.Asp314Ala) | |
| 1 | g.209788600_209788614del | CA2586968033 | IRF6 | c.1212_1226del (p.Glu404_Gly408del) c.*639_*653del (n.*639_*653del) c.*722_*736del (n.*722_*736del) c.927_941del (p.Glu309_Gly313del) | |
| 1 | g.209788599C>A | CA344573371 | IRF6 | c.1225G>T (p.Asp409Tyr) c.*652G>T (n.*652G>T) c.*735G>T (n.*735G>T) c.940G>T (p.Asp314Tyr) | |
| 1 | g.209788599C>G | CA344573373 | IRF6 | c.1225G>C (p.Asp409His) c.*652G>C (n.*652G>C) c.*735G>C (n.*735G>C) c.940G>C (p.Asp314His) | |
| 1 | g.209788599C>T | CA344573374 | IRF6 | c.1225G>A (p.Asp409Asn) c.*652G>A (n.*652G>A) c.*735G>A (n.*735G>A) c.940G>A (p.Asp314Asn) | |
| 1 | g.209788600A= | CA1143436313 | IRF6 | c.1224T= (p.Gly408=) c.*651T= (n.*651T=) c.*734T= (n.*734T=) c.939T= (p.Gly313=) | |
| 1 | g.209788600A>C | CA423026463 | IRF6 | c.1224T>G (p.Gly408=) c.*651T>G (n.*651T>G) c.*734T>G (n.*734T>G) c.939T>G (p.Gly313=) | |
| 1 | g.209788600A>G | CA1377156 | IRF6 | c.1224T>C (p.Gly408=) c.*651T>C (n.*651T>C) c.*734T>C (n.*734T>C) c.939T>C (p.Gly313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788600A>T | CA423026466 | IRF6 | c.1224T>A (p.Gly408=) c.*651T>A (n.*651T>A) c.*734T>A (n.*734T>A) c.939T>A (p.Gly313=) | |
| 1 | g.209788601C>A | CA344573379 | IRF6 | c.1223G>T (p.Gly408Val) c.*650G>T (n.*650G>T) c.*733G>T (n.*733G>T) c.938G>T (p.Gly313Val) | |
| 1 | g.209788601C>G | CA344573381 | IRF6 | c.1223G>C (p.Gly408Ala) c.*650G>C (n.*650G>C) c.*733G>C (n.*733G>C) c.938G>C (p.Gly313Ala) | |
| 1 | g.209788601C>T | CA344573384 | IRF6 | c.1223G>A (p.Gly408Asp) c.*650G>A (n.*650G>A) c.*733G>A (n.*733G>A) c.938G>A (p.Gly313Asp) | gnomAD v4 |
| 1 | g.209788602C>A | CA344573390 | IRF6 | c.1222G>T (p.Gly408Cys) c.*649G>T (n.*649G>T) c.*732G>T (n.*732G>T) c.937G>T (p.Gly313Cys) | |
| 1 | g.209788602C>G | CA344573393 | IRF6 | c.1222G>C (p.Gly408Arg) c.*649G>C (n.*649G>C) c.*732G>C (n.*732G>C) c.937G>C (p.Gly313Arg) | |
| 1 | g.209788602C>T | CA344573388 | IRF6 | c.1222G>A (p.Gly408Ser) c.*649G>A (n.*649G>A) c.*732G>A (n.*732G>A) c.937G>A (p.Gly313Ser) | |
| 1 | g.209788603A>C | CA423026501 | IRF6 | c.1221T>G (p.Ser407=) c.*648T>G (n.*648T>G) c.*731T>G (n.*731T>G) c.936T>G (p.Ser312=) | |
| 1 | g.209788603A>G | CA423026502 | IRF6 | c.1221T>C (p.Ser407=) c.*648T>C (n.*648T>C) c.*731T>C (n.*731T>C) c.936T>C (p.Ser312=) | |
| 1 | g.209788603A>T | CA423026503 | IRF6 | c.1221T>A (p.Ser407=) c.*648T>A (n.*648T>A) c.*731T>A (n.*731T>A) c.936T>A (p.Ser312=) | |
| 1 | g.209788604G>A | CA344573396 | IRF6 | c.1220C>T (p.Ser407Phe) c.*647C>T (n.*647C>T) c.*730C>T (n.*730C>T) c.935C>T (p.Ser312Phe) | gnomAD v4 |
| 1 | g.209788604G>C | CA344573397 | IRF6 | c.1220C>G (p.Ser407Cys) c.*647C>G (n.*647C>G) c.*730C>G (n.*730C>G) c.935C>G (p.Ser312Cys) | |
| 1 | g.209788604G>T | CA344573398 | IRF6 | c.1220C>A (p.Ser407Tyr) c.*647C>A (n.*647C>A) c.*730C>A (n.*730C>A) c.935C>A (p.Ser312Tyr) | |
| 1 | g.209788605A>C | CA344573400 | IRF6 | c.1219T>G (p.Ser407Ala) c.*646T>G (n.*646T>G) c.*729T>G (n.*729T>G) c.934T>G (p.Ser312Ala) | |
| 1 | g.209788605A>G | CA344573402 | IRF6 | c.1219T>C (p.Ser407Pro) c.*646T>C (n.*646T>C) c.*729T>C (n.*729T>C) c.934T>C (p.Ser312Pro) | |
| 1 | g.209788605A>T | CA344573404 | IRF6 | c.1219T>A (p.Ser407Thr) c.*646T>A (n.*646T>A) c.*729T>A (n.*729T>A) c.934T>A (p.Ser312Thr) | |
| 1 | g.209788608del | CA2586968034 | IRF6 | c.1219del (p.Ser407LeufsTer30) c.*646del (n.*646del) c.*729del (n.*729del) c.934del (p.Ser312LeufsTer30) | |
| 1 | g.209788606A>C | CA344573409 | IRF6 | c.1218T>G (p.Phe406Leu) c.*645T>G (n.*645T>G) c.*728T>G (n.*728T>G) c.933T>G (p.Phe311Leu) | |
| 1 | g.209788606A>G | CA423026535 | IRF6 | c.1218T>C (p.Phe406=) c.*645T>C (n.*645T>C) c.*728T>C (n.*728T>C) c.933T>C (p.Phe311=) | |
| 1 | g.209788606A>T | CA344573406 | IRF6 | c.1218T>A (p.Phe406Leu) c.*645T>A (n.*645T>A) c.*728T>A (n.*728T>A) c.933T>A (p.Phe311Leu) | |
| 1 | g.209788607A>C | CA344573412 | IRF6 | c.1217T>G (p.Phe406Cys) c.*644T>G (n.*644T>G) c.*727T>G (n.*727T>G) c.932T>G (p.Phe311Cys) | |
| 1 | g.209788607A>G | CA344573415 | IRF6 | c.1217T>C (p.Phe406Ser) c.*644T>C (n.*644T>C) c.*727T>C (n.*727T>C) c.932T>C (p.Phe311Ser) | |
| 1 | g.209788607A>T | CA344573416 | IRF6 | c.1217T>A (p.Phe406Tyr) c.*644T>A (n.*644T>A) c.*727T>A (n.*727T>A) c.932T>A (p.Phe311Tyr) | |
| 1 | g.209788608A>C | CA344573417 | IRF6 | c.1216T>G (p.Phe406Val) c.*643T>G (n.*643T>G) c.*726T>G (n.*726T>G) c.931T>G (p.Phe311Val) | |
| 1 | g.209788608A>G | CA344573418 | IRF6 | c.1216T>C (p.Phe406Leu) c.*643T>C (n.*643T>C) c.*726T>C (n.*726T>C) c.931T>C (p.Phe311Leu) | |
| 1 | g.209788608A>T | CA344573419 | IRF6 | c.1216T>A (p.Phe406Ile) c.*643T>A (n.*643T>A) c.*726T>A (n.*726T>A) c.931T>A (p.Phe311Ile) | |
| 1 | g.209788609C>A | CA344573422 | IRF6 | c.1215G>T (p.Met405Ile) c.*642G>T (n.*642G>T) c.*725G>T (n.*725G>T) c.930G>T (p.Met310Ile) | |
| 1 | g.209788609C>G | CA344573420 | IRF6 | c.1215G>C (p.Met405Ile) c.*642G>C (n.*642G>C) c.*725G>C (n.*725G>C) c.930G>C (p.Met310Ile) | |
| 1 | g.209788609C>T | CA344573421 | IRF6 | c.1215G>A (p.Met405Ile) c.*642G>A (n.*642G>A) c.*725G>A (n.*725G>A) c.930G>A (p.Met310Ile) | |
| 1 | g.209788610A>C | CA344573424 | IRF6 | c.1214T>G (p.Met405Arg) c.*641T>G (n.*641T>G) c.*724T>G (n.*724T>G) c.929T>G (p.Met310Arg) | |
| 1 | g.209788610A>G | CA344573429 | IRF6 | c.1214T>C (p.Met405Thr) c.*641T>C (n.*641T>C) c.*724T>C (n.*724T>C) c.929T>C (p.Met310Thr) | |
| 1 | g.209788610A>T | CA344573426 | IRF6 | c.1214T>A (p.Met405Lys) c.*641T>A (n.*641T>A) c.*724T>A (n.*724T>A) c.929T>A (p.Met310Lys) | |
| 1 | g.209788611T>A | CA344573433 | IRF6 | c.1213A>T (p.Met405Leu) c.*640A>T (n.*640A>T) c.*723A>T (n.*723A>T) c.928A>T (p.Met310Leu) | |
| 1 | g.209788611T>C | CA344573438 | IRF6 | c.1213A>G (p.Met405Val) c.*640A>G (n.*640A>G) c.*723A>G (n.*723A>G) c.928A>G (p.Met310Val) | |
| 1 | g.209788611T>G | CA344573435 | IRF6 | c.1213A>C (p.Met405Leu) c.*640A>C (n.*640A>C) c.*723A>C (n.*723A>C) c.928A>C (p.Met310Leu) | dbSNP |
| 1 | g.209788611T= | CA2484364821 | IRF6 | c.1213A= (p.Met405=) c.*640A= (n.*640A=) c.*723A= (n.*723A=) c.928A= (p.Met310=) | |
| 1 | g.209788612C>A | CA344573442 | IRF6 | c.1212G>T (p.Glu404Asp) c.*639G>T (n.*639G>T) c.*722G>T (n.*722G>T) c.927G>T (p.Glu309Asp) | |
| 1 | g.209788612C>G | CA344573444 | IRF6 | c.1212G>C (p.Glu404Asp) c.*639G>C (n.*639G>C) c.*722G>C (n.*722G>C) c.927G>C (p.Glu309Asp) | |
| 1 | g.209788612C>T | CA423026587 | IRF6 | c.1212G>A (p.Glu404=) c.*639G>A (n.*639G>A) c.*722G>A (n.*722G>A) c.927G>A (p.Glu309=) | COSMIC |
| 1 | g.209788613T>A | CA344573449 | IRF6 | c.1211A>T (p.Glu404Val) c.*638A>T (n.*638A>T) c.*721A>T (n.*721A>T) c.926A>T (p.Glu309Val) | |
| 1 | g.209788613T>C | CA344573452 | IRF6 | c.1211A>G (p.Glu404Gly) c.*638A>G (n.*638A>G) c.*721A>G (n.*721A>G) c.926A>G (p.Glu309Gly) | |
| 1 | g.209788613T>G | CA344573454 | IRF6 | c.1211A>C (p.Glu404Ala) c.*638A>C (n.*638A>C) c.*721A>C (n.*721A>C) c.926A>C (p.Glu309Ala) | |
| 1 | g.209788614C>A | CA344573455 | IRF6 | c.1210G>T (p.Glu404Ter) c.*637G>T (n.*637G>T) c.*720G>T (n.*720G>T) c.925G>T (p.Glu309Ter) | |
| 1 | g.209788614C= | CA2484364822 | IRF6 | c.1210G= (p.Glu404=) c.*637G= (n.*637G=) c.*720G= (n.*720G=) c.925G= (p.Glu309=) | |
| 1 | g.209788614C>G | CA1377157 | IRF6 | c.1210G>C (p.Glu404Gln) c.*637G>C (n.*637G>C) c.*720G>C (n.*720G>C) c.925G>C (p.Glu309Gln) | dbSNP ExAC gnomAD v4 |
| 1 | g.209788614C>T | CA277849 | IRF6 | c.1210G>A (p.Glu404Lys) c.*637G>A (n.*637G>A) c.*720G>A (n.*720G>A) c.925G>A (p.Glu309Lys) | ClinVar dbSNP |
| 1 | g.209788615G>A | CA1377158 | IRF6 | c.1209C>T (p.Tyr403=) c.*636C>T (n.*636C>T) c.*719C>T (n.*719C>T) c.924C>T (p.Tyr308=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209788615G>C | CA344573470 | IRF6 | c.1209C>G (p.Tyr403Ter) c.*636C>G (n.*636C>G) c.*719C>G (n.*719C>G) c.924C>G (p.Tyr308Ter) | COSMIC |
| 1 | g.209788615G= | CA2484364823 | IRF6 | c.1209C= (p.Tyr403=) c.*636C= (n.*636C=) c.*719C= (n.*719C=) c.924C= (p.Tyr308=) | |
| 1 | g.209788615G>T | CA1377159 | IRF6 | c.1209C>A (p.Tyr403Ter) c.*636C>A (n.*636C>A) c.*719C>A (n.*719C>A) c.924C>A (p.Tyr308Ter) | dbSNP ExAC |
| 1 | g.209788615_209788625delinsGTAGATCATCC | CA2484364824 | IRF6 | c.1199_1209delinsGGATGATCTAC (p.Arg400=) c.*626_*636delinsGGATGATCTAC (n.*626_*636delinsGGATGATCTAC) c.*709_*719delinsGGATGATCTAC (n.*709_*719delinsGGATGATCTAC) c.914_924delinsGGATGATCTAC (p.Arg305=) | |
| 1 | g.209788616T>A | CA1377160 | IRF6 | c.1208A>T (p.Tyr403Phe) c.*635A>T (n.*635A>T) c.*718A>T (n.*718A>T) c.923A>T (p.Tyr308Phe) | dbSNP ExAC gnomAD v4 |
| 1 | g.209788616T>C | CA344573474 | IRF6 | c.1208A>G (p.Tyr403Cys) c.*635A>G (n.*635A>G) c.*718A>G (n.*718A>G) c.923A>G (p.Tyr308Cys) | |
| 1 | g.209788616T>G | CA1377161 | IRF6 | c.1208A>C (p.Tyr403Ser) c.*635A>C (n.*635A>C) c.*718A>C (n.*718A>C) c.923A>C (p.Tyr308Ser) | dbSNP ExAC |
| 1 | g.209788616T= | CA2484364825 | IRF6 | c.1208A= (p.Tyr403=) c.*635A= (n.*635A=) c.*718A= (n.*718A=) c.923A= (p.Tyr308=) | |
| 1 | g.209788616_209788625del | CA36752359 | IRF6 | c.1199_1208del (p.Arg400ProfsTer?) c.*626_*635del (n.*626_*635del) c.*709_*718del (n.*709_*718del) c.914_923del (p.Arg305ProfsTer?) | dbSNP |
| 1 | g.209788617A= | CA2484364826 | IRF6 | c.1207T= (p.Tyr403=) c.*634T= (n.*634T=) c.*717T= (n.*717T=) c.922T= (p.Tyr308=) | |
| 1 | g.209788617A>C | CA1377162 | IRF6 | c.1207T>G (p.Tyr403Asp) c.*634T>G (n.*634T>G) c.*717T>G (n.*717T>G) c.922T>G (p.Tyr308Asp) | dbSNP ExAC |
| 1 | g.209788617A>G | CA344573493 | IRF6 | c.1207T>C (p.Tyr403His) c.*634T>C (n.*634T>C) c.*717T>C (n.*717T>C) c.922T>C (p.Tyr308His) | |
| 1 | g.209788617A>T | CA344573490 | IRF6 | c.1207T>A (p.Tyr403Asn) c.*634T>A (n.*634T>A) c.*717T>A (n.*717T>A) c.922T>A (p.Tyr308Asn) | |
| 1 | g.209788619_209788628del | CA344573484 | IRF6 | c.1198_1207del (p.Arg400ThrfsTer?) c.*625_*634del (n.*625_*634del) c.*708_*717del (n.*708_*717del) c.913_922del (p.Arg305ThrfsTer?) | |
| 1 | g.209788618G>A | CA423026636 | IRF6 | c.1206C>T (p.Ile402=) c.*633C>T (n.*633C>T) c.*716C>T (n.*716C>T) c.921C>T (p.Ile307=) | |
| 1 | g.209788618G>C | CA344573498 | IRF6 | c.1206C>G (p.Ile402Met) c.*633C>G (n.*633C>G) c.*716C>G (n.*716C>G) c.921C>G (p.Ile307Met) | |
| 1 | g.209788618G= | CA2484364827 | IRF6 | c.1206C= (p.Ile402=) c.*633C= (n.*633C=) c.*716C= (n.*716C=) c.921C= (p.Ile307=) | |
| 1 | g.209788618G>T | CA1377163 | IRF6 | c.1206C>A (p.Ile402=) c.*633C>A (n.*633C>A) c.*716C>A (n.*716C>A) c.921C>A (p.Ile307=) | dbSNP ExAC |
| 1 | g.209788618_209788625delinsGATCATCC | CA2484364828 | IRF6 | c.1199_1206delinsGGATGATC (p.Arg400=) c.*626_*633delinsGGATGATC (n.*626_*633delinsGGATGATC) c.*709_*716delinsGGATGATC (n.*709_*716delinsGGATGATC) c.914_921delinsGGATGATC (p.Arg305=) | |
| 1 | g.209788619A= | CA2484364829 | IRF6 | c.1205T= (p.Ile402=) c.*632T= (n.*632T=) c.*715T= (n.*715T=) c.920T= (p.Ile307=) | |
| 1 | g.209788619A>C | CA1377164 | IRF6 | c.1205T>G (p.Ile402Ser) c.*632T>G (n.*632T>G) c.*715T>G (n.*715T>G) c.920T>G (p.Ile307Ser) | dbSNP ExAC |
| 1 | g.209788619A>G | CA1377165 | IRF6 | c.1205T>C (p.Ile402Thr) c.*632T>C (n.*632T>C) c.*715T>C (n.*715T>C) c.920T>C (p.Ile307Thr) | dbSNP ExAC |
| 1 | g.209788619A>T | CA344573509 | IRF6 | c.1205T>A (p.Ile402Asn) c.*632T>A (n.*632T>A) c.*715T>A (n.*715T>A) c.920T>A (p.Ile307Asn) | |
| 1 | g.209788619_209788625del | CA36752365 | IRF6 | c.1199_1205del (p.Arg400ProfsTer?) c.*626_*632del (n.*626_*632del) c.*709_*715del (n.*709_*715del) c.914_920del (p.Arg305ProfsTer?) | dbSNP |
| 1 | g.209788619_209788625dup | CA2484364830 | IRF6 | c.1199_1205dup (p.Ile402MetfsTer10) c.*626_*632dup (n.*626_*632dup) c.*709_*715dup (n.*709_*715dup) c.914_920dup (p.Ile307MetfsTer10) | dbSNP |
| 1 | g.209788620T>A | CA36752369 | IRF6 | c.1204A>T (p.Ile402Phe) c.*631A>T (n.*631A>T) c.*714A>T (n.*714A>T) c.919A>T (p.Ile307Phe) | dbSNP |
| 1 | g.209788620T>C | CA1377166 | IRF6 | c.1204A>G (p.Ile402Val) c.*631A>G (n.*631A>G) c.*714A>G (n.*714A>G) c.919A>G (p.Ile307Val) | dbSNP ExAC |
| 1 | g.209788620T>G | CA344573529 | IRF6 | c.1204A>C (p.Ile402Leu) c.*631A>C (n.*631A>C) c.*714A>C (n.*714A>C) c.919A>C (p.Ile307Leu) | |
| 1 | g.209788620T= | CA1147278399 | IRF6 | c.1204A= (p.Ile402=) c.*631A= (n.*631A=) c.*714A= (n.*714A=) c.919A= (p.Ile307=) | |
| 1 | g.209788620_209788626del | CA344573532 | IRF6 | c.1198_1204del (p.Arg400SerfsTer?) c.*625_*631del (n.*625_*631del) c.*708_*714del (n.*708_*714del) c.913_919del (p.Arg305SerfsTer?) | |
| 1 | g.209788621C>A | CA344573535 | IRF6 | c.1203G>T (p.Met401Ile) c.*630G>T (n.*630G>T) c.*713G>T (n.*713G>T) c.918G>T (p.Met306Ile) | |
| 1 | g.209788621C>G | CA344573537 | IRF6 | c.1203G>C (p.Met401Ile) c.*630G>C (n.*630G>C) c.*713G>C (n.*713G>C) c.918G>C (p.Met306Ile) | |
| 1 | g.209788621C>T | CA344573536 | IRF6 | c.1203G>A (p.Met401Ile) c.*630G>A (n.*630G>A) c.*713G>A (n.*713G>A) c.918G>A (p.Met306Ile) | COSMIC |
| 1 | g.209788622A= | CA2484364831 | IRF6 | c.1202T= (p.Met401=) c.*629T= (n.*629T=) c.*712T= (n.*712T=) c.917T= (p.Met306=) | |
| 1 | g.209788622A>C | CA1377168 | IRF6 | c.1202T>G (p.Met401Arg) c.*629T>G (n.*629T>G) c.*712T>G (n.*712T>G) c.917T>G (p.Met306Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788622A>G | CA1377169 | IRF6 | c.1202T>C (p.Met401Thr) c.*629T>C (n.*629T>C) c.*712T>C (n.*712T>C) c.917T>C (p.Met306Thr) | dbSNP ExAC gnomAD v4 |
| 1 | g.209788622A>T | CA1377167 | IRF6 | c.1202T>A (p.Met401Lys) c.*629T>A (n.*629T>A) c.*712T>A (n.*712T>A) c.917T>A (p.Met306Lys) | dbSNP ExAC gnomAD v4 |
| 1 | g.209788623T>A | CA344573557 | IRF6 | c.1201A>T (p.Met401Leu) c.*628A>T (n.*628A>T) c.*711A>T (n.*711A>T) c.916A>T (p.Met306Leu) | |
| 1 | g.209788623T>C | CA1377171 | IRF6 | c.1201A>G (p.Met401Val) c.*628A>G (n.*628A>G) c.*711A>G (n.*711A>G) c.916A>G (p.Met306Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788623T>G | CA1377170 | IRF6 | c.1201A>C (p.Met401Leu) c.*628A>C (n.*628A>C) c.*711A>C (n.*711A>C) c.916A>C (p.Met306Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788623T= | CA2484364832 | IRF6 | c.1201A= (p.Met401=) c.*628A= (n.*628A=) c.*711A= (n.*711A=) c.916A= (p.Met306=) | |
| 1 | g.209788624C>A | CA423026710 | IRF6 | c.1200G>T (p.Arg400=) c.*627G>T (n.*627G>T) c.*710G>T (n.*710G>T) c.915G>T (p.Arg305=) | COSMIC |
| 1 | g.209788624C= | CA2484364833 | IRF6 | c.1200G= (p.Arg400=) c.*627G= (n.*627G=) c.*710G= (n.*710G=) c.915G= (p.Arg305=) | |
| 1 | g.209788624C>G | CA1377172 | IRF6 | c.1200G>C (p.Arg400=) c.*627G>C (n.*627G>C) c.*710G>C (n.*710G>C) c.915G>C (p.Arg305=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788624C>T | CA423026732 | IRF6 | c.1200G>A (p.Arg400=) c.*627G>A (n.*627G>A) c.*710G>A (n.*710G>A) c.915G>A (p.Arg305=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788625C>A | CA1377174 | IRF6 | c.1199G>T (p.Arg400Leu) c.*626G>T (n.*626G>T) c.*709G>T (n.*709G>T) c.914G>T (p.Arg305Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788625C= | CA1143400335 | IRF6 | c.1199G= (p.Arg400=) c.*626G= (n.*626G=) c.*709G= (n.*709G=) c.914G= (p.Arg305=) | |
| 1 | g.209788625C>G | CA1377173 | IRF6 | c.1199G>C (p.Arg400Pro) c.*626G>C (n.*626G>C) c.*709G>C (n.*709G>C) c.914G>C (p.Arg305Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788625C>T | CA267607 | IRF6 | c.1199G>A (p.Arg400Gln) c.*626G>A (n.*626G>A) c.*709G>A (n.*709G>A) c.914G>A (p.Arg305Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.209788626G>A | CA252762 | IRF6 | c.1198C>T (p.Arg400Trp) c.*625C>T (n.*625C>T) c.*708C>T (n.*708C>T) c.913C>T (p.Arg305Trp) | ClinVar dbSNP |
| 1 | g.209788626G>C | CA344573571 | IRF6 | c.1198C>G (p.Arg400Gly) c.*625C>G (n.*625C>G) c.*708C>G (n.*708C>G) c.913C>G (p.Arg305Gly) | |
| 1 | g.209788626G= | CA1140496143 | IRF6 | c.1198C= (p.Arg400=) c.*625C= (n.*625C=) c.*708C= (n.*708C=) c.913C= (p.Arg305=) | |
| 1 | g.209788626G>T | CA423026778 | IRF6 | c.1198C>A (p.Arg400=) c.*625C>A (n.*625C>A) c.*708C>A (n.*708C>A) c.913C>A (p.Arg305=) | |
| 1 | g.209788626dup | CA36752380 | IRF6 | c.1198dup (p.Arg400ProfsTer10) c.*625dup (n.*625dup) c.*708dup (n.*708dup) c.913dup (p.Arg305ProfsTer10) | dbSNP |
| 1 | g.209788627A>C | CA423026789 | IRF6 | c.1197T>G (p.Ala399=) c.*624T>G (n.*624T>G) c.*707T>G (n.*707T>G) c.912T>G (p.Ala304=) | |
| 1 | g.209788627A>G | CA423026793 | IRF6 | c.1197T>C (p.Ala399=) c.*624T>C (n.*624T>C) c.*707T>C (n.*707T>C) c.912T>C (p.Ala304=) | |
| 1 | g.209788627A>T | CA423026795 | IRF6 | c.1197T>A (p.Ala399=) c.*624T>A (n.*624T>A) c.*707T>A (n.*707T>A) c.912T>A (p.Ala304=) | |
| 1 | g.209788628G>A | CA344573574 | IRF6 | c.1196C>T (p.Ala399Val) c.*623C>T (n.*623C>T) c.*706C>T (n.*706C>T) c.911C>T (p.Ala304Val) | |
| 1 | g.209788628G>C | CA344573578 | IRF6 | c.1196C>G (p.Ala399Gly) c.*623C>G (n.*623C>G) c.*706C>G (n.*706C>G) c.911C>G (p.Ala304Gly) | |
| 1 | g.209788628G>T | CA344573576 | IRF6 | c.1196C>A (p.Ala399Asp) c.*623C>A (n.*623C>A) c.*706C>A (n.*706C>A) c.911C>A (p.Ala304Asp) | |
| 1 | g.209788628_209788629delinsGC | CA2484364834 | IRF6 | c.1195_1196delinsGC (p.Ala399=) c.*622_*623delinsGC (n.*622_*623delinsGC) c.*705_*706delinsGC (n.*705_*706delinsGC) c.910_911delinsGC (p.Ala304=) | |
| 1 | g.209788629C>A | CA344573581 | IRF6 | c.1195G>T (p.Ala399Ser) c.*622G>T (n.*622G>T) c.*705G>T (n.*705G>T) c.910G>T (p.Ala304Ser) | |
| 1 | g.209788629C>G | CA344573582 | IRF6 | c.1195G>C (p.Ala399Pro) c.*622G>C (n.*622G>C) c.*705G>C (n.*705G>C) c.910G>C (p.Ala304Pro) | |
| 1 | g.209788629C>T | CA344573583 | IRF6 | c.1195G>A (p.Ala399Thr) c.*622G>A (n.*622G>A) c.*705G>A (n.*705G>A) c.910G>A (p.Ala304Thr) | |
| 1 | g.209788630del | CA658655632 | IRF6 | c.1195del (p.Ala399LeufsTer3) c.*622del (n.*622del) c.*705del (n.*705del) c.910del (p.Ala304LeufsTer3) | ClinVar dbSNP |
| 1 | g.209788630C>A | CA423026809 | IRF6 | c.1194G>T (p.Val398=) c.*621G>T (n.*621G>T) c.*704G>T (n.*704G>T) c.909G>T (p.Val303=) | |
| 1 | g.209788630C>G | CA423026821 | IRF6 | c.1194G>C (p.Val398=) c.*621G>C (n.*621G>C) c.*704G>C (n.*704G>C) c.909G>C (p.Val303=) | |
| 1 | g.209788630C>T | CA423026825 | IRF6 | c.1194G>A (p.Val398=) c.*621G>A (n.*621G>A) c.*704G>A (n.*704G>A) c.909G>A (p.Val303=) | |
| 1 | g.209788631A>C | CA344573585 | IRF6 | c.1193T>G (p.Val398Gly) c.*620T>G (n.*620T>G) c.*703T>G (n.*703T>G) c.908T>G (p.Val303Gly) | |
| 1 | g.209788631A>G | CA344573586 | IRF6 | c.1193T>C (p.Val398Ala) c.*620T>C (n.*620T>C) c.*703T>C (n.*703T>C) c.908T>C (p.Val303Ala) | |
| 1 | g.209788631A>T | CA344573587 | IRF6 | c.1193T>A (p.Val398Glu) c.*620T>A (n.*620T>A) c.*703T>A (n.*703T>A) c.908T>A (p.Val303Glu) | |
| 1 | g.209788632C>A | CA344573588 | IRF6 | c.1192G>T (p.Val398Leu) c.*619G>T (n.*619G>T) c.*702G>T (n.*702G>T) c.907G>T (p.Val303Leu) | |
| 1 | g.209788632C>G | CA344573589 | IRF6 | c.1192G>C (p.Val398Leu) c.*619G>C (n.*619G>C) c.*702G>C (n.*702G>C) c.907G>C (p.Val303Leu) | |
| 1 | g.209788632C>T | CA344573590 | IRF6 | c.1192G>A (p.Val398Met) c.*619G>A (n.*619G>A) c.*702G>A (n.*702G>A) c.907G>A (p.Val303Met) | |
| 1 | g.209788632_209788633insCTACTGGAAT | CA645526281 | IRF6 | c.1191_1192insATTCCAGTAG (p.Val398IlefsTer15) c.*618_*619insATTCCAGTAG (n.*618_*619insATTCCAGTAG) c.*701_*702insATTCCAGTAG (n.*701_*702insATTCCAGTAG) c.906_907insATTCCAGTAG (p.Val303IlefsTer15) | COSMIC |
| 1 | g.209788633T>A | CA423026867 | IRF6 | c.1191A>T (p.Val397=) c.*618A>T (n.*618A>T) c.*701A>T (n.*701A>T) c.906A>T (p.Val302=) | |
| 1 | g.209788633T>C | CA423026868 | IRF6 | c.1191A>G (p.Val397=) c.*618A>G (n.*618A>G) c.*701A>G (n.*701A>G) c.906A>G (p.Val302=) | |
| 1 | g.209788633T>G | CA423026869 | IRF6 | c.1191A>C (p.Val397=) c.*618A>C (n.*618A>C) c.*701A>C (n.*701A>C) c.906A>C (p.Val302=) | |
| 1 | g.209788634A>C | CA344573594 | IRF6 | c.1190T>G (p.Val397Gly) c.*617T>G (n.*617T>G) c.*700T>G (n.*700T>G) c.905T>G (p.Val302Gly) | |
| 1 | g.209788634A>G | CA344573592 | IRF6 | c.1190T>C (p.Val397Ala) c.*617T>C (n.*617T>C) c.*700T>C (n.*700T>C) c.905T>C (p.Val302Ala) | ClinVar |
| 1 | g.209788634A>T | CA344573591 | IRF6 | c.1190T>A (p.Val397Glu) c.*617T>A (n.*617T>A) c.*700T>A (n.*700T>A) c.905T>A (p.Val302Glu) | |
| 1 | g.209788635C>A | CA344573603 | IRF6 | c.1189G>T (p.Val397Leu) c.*616G>T (n.*616G>T) c.*699G>T (n.*699G>T) c.904G>T (p.Val302Leu) | |
| 1 | g.209788635C>G | CA344573607 | IRF6 | c.1189G>C (p.Val397Leu) c.*616G>C (n.*616G>C) c.*699G>C (n.*699G>C) c.904G>C (p.Val302Leu) | |
| 1 | g.209788635C>T | CA344573606 | IRF6 | c.1189G>A (p.Val397Ile) c.*616G>A (n.*616G>A) c.*699G>A (n.*699G>A) c.904G>A (p.Val302Ile) | |
| 1 | g.209788636T>A | CA423026879 | IRF6 | c.1188A>T (p.Pro396=) c.*615A>T (n.*615A>T) c.*698A>T (n.*698A>T) c.903A>T (p.Pro301=) | |
| 1 | g.209788636T>C | CA1377175 | IRF6 | c.1188A>G (p.Pro396=) c.*615A>G (n.*615A>G) c.*698A>G (n.*698A>G) c.903A>G (p.Pro301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788636T>G | CA423026882 | IRF6 | c.1188A>C (p.Pro396=) c.*615A>C (n.*615A>C) c.*698A>C (n.*698A>C) c.903A>C (p.Pro301=) | dbSNP gnomAD v4 |
| 1 | g.209788636T= | CA1141812756 | IRF6 | c.1188A= (p.Pro396=) c.*615A= (n.*615A=) c.*698A= (n.*698A=) c.903A= (p.Pro301=) | |
| 1 | g.209788637G>A | CA344573609 | IRF6 | c.1187C>T (p.Pro396Leu) c.*614C>T (n.*614C>T) c.*697C>T (n.*697C>T) c.902C>T (p.Pro301Leu) | |
| 1 | g.209788637G>C | CA344573612 | IRF6 | c.1187C>G (p.Pro396Arg) c.*614C>G (n.*614C>G) c.*697C>G (n.*697C>G) c.902C>G (p.Pro301Arg) | |
| 1 | g.209788637G>T | CA344573616 | IRF6 | c.1187C>A (p.Pro396Gln) c.*614C>A (n.*614C>A) c.*697C>A (n.*697C>A) c.902C>A (p.Pro301Gln) | |
| 1 | g.209788638G>A | CA252765 | IRF6 | c.1186C>T (p.Pro396Ser) c.*613C>T (n.*613C>T) c.*696C>T (n.*696C>T) c.901C>T (p.Pro301Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209788638G>C | CA344573626 | IRF6 | c.1186C>G (p.Pro396Ala) c.*613C>G (n.*613C>G) c.*696C>G (n.*696C>G) c.901C>G (p.Pro301Ala) | |
| 1 | g.209788638G= | CA1141581363 | IRF6 | c.1186C= (p.Pro396=) c.*613C= (n.*613C=) c.*696C= (n.*696C=) c.901C= (p.Pro301=) | |
| 1 | g.209788638G>T | CA344573627 | IRF6 | c.1186C>A (p.Pro396Thr) c.*613C>A (n.*613C>A) c.*696C>A (n.*696C>A) c.901C>A (p.Pro301Thr) |