17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80107508C>A | CA2581285023 | GAA | c.693-49C>A (n.693-49C>A)
| |
17 | g.80107508C= | CA2277812194 | GAA | c.693-49C= (n.693-49C=)
| |
17 | g.80107508C>G | CA2581285022 | GAA | c.693-49C>G (n.693-49C>G)
| |
17 | g.80107508C>T | CA8814982 | GAA | c.693-49C>T (n.693-49C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107509G>A | CA8814983 | GAA | c.693-48G>A (n.693-48G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107509G>C | CA628018316 | GAA | c.693-48G>C (n.693-48G>C)
| dbSNP gnomAD v2 |
17 | g.80107509G= | CA2277812195 | GAA | c.693-48G= (n.693-48G=)
| |
17 | g.80107509G>T | CA8814984 | GAA | c.693-48G>T (n.693-48G>T)
| dbSNP ExAC gnomAD v2 |
17 | g.80107510T>C | CA628018317 | GAA | c.693-47T>C (n.693-47T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107510T= | CA2277812196 | GAA | c.693-47T= (n.693-47T=)
| |
17 | g.80107512T>G | CA986723211 | GAA | c.693-45T>G (n.693-45T>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107512T= | CA2277812197 | GAA | c.693-45T= (n.693-45T=)
| |
17 | g.80107513G>T | CA2576413975 | GAA | c.693-44G>T (n.693-44G>T)
| |
17 | g.80107514G>T | CA2640279022 | GAA | c.693-43G>T (n.693-43G>T)
| gnomAD v4 |
17 | g.80107515C>A | CA2277812199 | GAA | c.693-42C>A (n.693-42C>A)
| dbSNP |
17 | g.80107515C= | CA2277812198 | GAA | c.693-42C= (n.693-42C=)
| |
17 | g.80107515C>G | CA2640279026 | GAA | c.693-42C>G (n.693-42C>G)
| gnomAD v4 |
17 | g.80107517C>T | CA2640279028 | GAA | c.693-40C>T (n.693-40C>T)
| gnomAD v4 |
17 | g.80107518C>A | CA2640279029 | GAA | c.693-39C>A (n.693-39C>A)
| gnomAD v4 |
17 | g.80107519T>C | CA775510870 | GAA | c.693-38T>C (n.693-38T>C)
| dbSNP gnomAD v4 |
17 | g.80107519T= | CA2277812200 | GAA | c.693-38T= (n.693-38T=)
| |
17 | g.80107521G>A | CA2576413976 | GAA | c.693-36G>A (n.693-36G>A)
| gnomAD v4 |
17 | g.80107523G>A | CA2277812202 | GAA | c.693-34G>A (n.693-34G>A)
| dbSNP |
17 | g.80107523G= | CA2277812201 | GAA | c.693-34G= (n.693-34G=)
| |
17 | g.80107523G>T | CA2640279033 | GAA | c.693-34G>T (n.693-34G>T)
| gnomAD v4 |
17 | g.80107525G>A | CA628018318 | GAA | c.693-32G>A (n.693-32G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107525G= | CA2277812203 | GAA | c.693-32G= (n.693-32G=)
| |
17 | g.80107525G>T | CA2640279035 | GAA | c.693-32G>T (n.693-32G>T)
| gnomAD v4 |
17 | g.80107527G>A | CA8814985 | GAA | c.693-30G>A (n.693-30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107527G= | CA2277812204 | GAA | c.693-30G= (n.693-30G=)
| |
17 | g.80107528A>C | CA2640279039 | GAA | c.693-29A>C (n.693-29A>C)
| gnomAD v4 |
17 | g.80107530C= | CA2277812205 | GAA | c.693-27C= (n.693-27C=)
| |
17 | g.80107530C>T | CA8814986 | GAA | c.693-27C>T (n.693-27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107531A= | CA2277812206 | GAA | c.693-26A= (n.693-26A=)
| |
17 | g.80107531A>C | CA628018319 | GAA | c.693-26A>C (n.693-26A>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107531A>T | CA2640279044 | GAA | c.693-26A>T (n.693-26A>T)
| gnomAD v4 |
17 | g.80107532A= | CA2277812207 | GAA | c.693-25A= (n.693-25A=)
| |
17 | g.80107532A>G | CA628018320 | GAA | c.693-25A>G (n.693-25A>G)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107534C= | CA2277812208 | GAA | c.693-23C= (n.693-23C=)
| |
17 | g.80107534C>T | CA8814987 | GAA | c.693-23C>T (n.693-23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107535C>A | CA2576413977 | GAA | c.693-22C>A (n.693-22C>A)
| |
17 | g.80107536T>C | CA294889545 | GAA | c.693-21T>C (n.693-21T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107536T= | CA2277812209 | GAA | c.693-21T= (n.693-21T=)
| |
17 | g.80107537G>A | CA2277812211 | GAA | c.693-20G>A (n.693-20G>A)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107537G= | CA2277812210 | GAA | c.693-20G= (n.693-20G=)
| |
17 | g.80107537G>T | CA2576413978 | GAA | c.693-20G>T (n.693-20G>T)
| |
17 | g.80107538G>A | CA628018321 | GAA | c.693-19G>A (n.693-19G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107538G>C | CA2573154936 | GAA | c.693-19G>C (n.693-19G>C)
| ClinVar dbSNP |
17 | g.80107538G= | CA2277812212 | GAA | c.693-19G= (n.693-19G=)
| |
17 | g.80107538G>T | CA775510890 | GAA | c.693-19G>T (n.693-19G>T)
| ClinVar dbSNP |
17 | g.80107539C= | CA2277812213 | GAA | c.693-18C= (n.693-18C=)
| |
17 | g.80107539C>G | CA294889546 | GAA | c.693-18C>G (n.693-18C>G)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107542G>A | CA8814988 | GAA | c.693-15G>A (n.693-15G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107542G= | CA2277812214 | GAA | c.693-15G= (n.693-15G=)
| |
17 | g.80107543C>T | CA2697555231 | GAA | c.693-14C>T (n.693-14C>T)
| ClinVar |
17 | g.80107544C= | CA2277812215 | GAA | c.693-13C= (n.693-13C=)
| |
17 | g.80107544C>G | CA8814989 | GAA | c.693-13C>G (n.693-13C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107544C>T | CA2573154937 | GAA | c.693-13C>T (n.693-13C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107546C>G | CA2640279113 | GAA | c.693-11C>G (n.693-11C>G)
| ClinVar gnomAD v4 |
17 | g.80107547T>C | CA2499225001 | GAA | c.693-10T>C (n.693-10T>C)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107548G>C | CA2697555232 | GAA | c.693-9G>C (n.693-9G>C)
| ClinVar |
17 | g.80107549_80107550delinsTC | CA2277812216 | GAA | c.693-8_693-7delinsTC (n.693-8_693-7delinsTC)
| |
17 | g.80107550C= | CA2277812217 | GAA | c.693-7C= (n.693-7C=)
| |
17 | g.80107550C>G | CA2277812218 | GAA | c.693-7C>G (n.693-7C>G)
| dbSNP |
17 | g.80107550C>T | CA2739268461 | GAA | c.693-7C>T (n.693-7C>T)
| ClinVar |
17 | g.80107552del | CA502402271 | GAA | c.693-5del (n.693-5del)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107551C>G | CA2640279126 | GAA | c.693-6C>G (n.693-6C>G)
| ClinVar gnomAD v4 |
17 | g.80107551C>T | CA2573154938 | GAA | c.693-6C>T (n.693-6C>T)
| ClinVar dbSNP |
17 | g.80107552C= | CA2277812219 | GAA | c.693-5C= (n.693-5C=)
| |
17 | g.80107552C>G | CA2573154939 | GAA | c.693-5C>G (n.693-5C>G)
| ClinVar dbSNP |
17 | g.80107552C>T | CA8814990 | GAA | c.693-5C>T (n.693-5C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107553G>A | CA8814992 | GAA | c.693-4G>A (n.693-4G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107553G= | CA2277812220 | GAA | c.693-4G= (n.693-4G=)
| |
17 | g.80107553G>T | CA8814991 | GAA | c.693-4G>T (n.693-4G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107555A= | CA2277812221 | GAA | c.693-2A= (n.693-2A=)
| |
17 | g.80107555A>C | CA401362933 | GAA | c.693-2A>C (n.693-2A>C)
| ClinVar dbSNP |
17 | g.80107555A>G | CA401362934 | GAA | c.693-2A>G (n.693-2A>G)
| |
17 | g.80107555A>T | CA401362936 | GAA | c.693-2A>T (n.693-2A>T)
| |
17 | g.80107556G>A | CA401362939 | GAA | c.693-1G>A (n.693-1G>A)
| |
17 | g.80107556G>C | CA401362948 | GAA | c.693-1G>C (n.693-1G>C)
| ClinVar dbSNP |
17 | g.80107556G>T | CA401362951 | GAA | c.693-1G>T (n.693-1G>T)
| |
17 | g.80107557G>A | CA502402275 | GAA | c.693G>A (p.Leu231=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107557G>C | CA502402276 | GAA | c.693G>C (p.Leu231=)
| |
17 | g.80107557G= | CA2277812222 | GAA | c.693G= (p.Leu231=)
| |
17 | g.80107557G>T | CA502402277 | GAA | c.693G>T (p.Leu231=)
| ClinVar |
17 | g.80107558C>A | CA401362958 | GAA | c.694C>A (p.Leu232Met)
| |
17 | g.80107558C>G | CA401362954 | GAA | c.694C>G (p.Leu232Val)
| |
17 | g.80107558C>T | CA502402278 | GAA | c.694C>T (p.Leu232=)
| |
17 | g.80107559T>A | CA401362961 | GAA | c.695T>A (p.Leu232Gln)
| |
17 | g.80107559T>C | CA401362964 | GAA | c.695T>C (p.Leu232Pro)
| |
17 | g.80107559T>G | CA401362970 | GAA | c.695T>G (p.Leu232Arg)
| |
17 | g.80107560G>A | CA502402281 | GAA | c.696G>A (p.Leu232=)
| dbSNP gnomAD v2 |
17 | g.80107560G>C | CA502402282 | GAA | c.696G>C (p.Leu232=)
| |
17 | g.80107560G= | CA2277812223 | GAA | c.696G= (p.Leu232=)
| |
17 | g.80107560G>T | CA502402283 | GAA | c.696G>T (p.Leu232=)
| |
17 | g.80107561A>C | CA401362972 | GAA | c.697A>C (p.Asn233His)
| |
17 | g.80107561A>G | CA401362975 | GAA | c.697A>G (p.Asn233Asp)
| |
17 | g.80107561A>T | CA401362977 | GAA | c.697A>T (p.Asn233Tyr)
| |
17 | g.80107562A>C | CA401362986 | GAA | c.698A>C (p.Asn233Thr)
| |
17 | g.80107562A>G | CA401362981 | GAA | c.698A>G (p.Asn233Ser)
| |
17 | g.80107562A>T | CA401362983 | GAA | c.698A>T (p.Asn233Ile)
| |
17 | g.80107563C>A | CA401362988 | GAA | c.699C>A (p.Asn233Lys)
| |
17 | g.80107563C>G | CA401362991 | GAA | c.699C>G (p.Asn233Lys)
| gnomAD v4 |
17 | g.80107563C>T | CA502402288 | GAA | c.699C>T (p.Asn233=)
| |
17 | g.80107564A= | CA2277812224 | GAA | c.700A= (p.Thr234=)
| |
17 | g.80107564A>C | CA401362994 | GAA | c.700A>C (p.Thr234Pro)
| |
17 | g.80107564A>G | CA8814993 | GAA | c.700A>G (p.Thr234Ala)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.80107564A>T | CA401362998 | GAA | c.700A>T (p.Thr234Ser)
| |
17 | g.80107565C>A | CA401363004 | GAA | c.701C>A (p.Thr234Lys)
| |
17 | g.80107565C= | CA2277812225 | GAA | c.701C= (p.Thr234=)
| |
17 | g.80107565C>G | CA401363009 | GAA | c.701C>G (p.Thr234Arg)
| |
17 | g.80107565C>T | CA8814994 | GAA | c.701C>T (p.Thr234Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107566G>A | CA8814995 | GAA | c.702G>A (p.Thr234=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107566G>C | CA502402290 | GAA | c.702G>C (p.Thr234=)
| |
17 | g.80107566G= | CA2277812226 | GAA | c.702G= (p.Thr234=)
| |
17 | g.80107566G>T | CA502402291 | GAA | c.702G>T (p.Thr234=)
| |
17 | g.80107567A= | CA2277812227 | GAA | c.703A= (p.Thr235=)
| |
17 | g.80107567A>C | CA401363012 | GAA | c.703A>C (p.Thr235Pro)
| |
17 | g.80107567A>G | CA8814996 | GAA | c.703A>G (p.Thr235Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107567A>T | CA401363018 | GAA | c.703A>T (p.Thr235Ser)
| dbSNP |
17 | g.80107568C>A | CA401363020 | GAA | c.704C>A (p.Thr235Lys)
| |
17 | g.80107568C= | CA2277812228 | GAA | c.704C= (p.Thr235=)
| |
17 | g.80107568C>G | CA401363023 | GAA | c.704C>G (p.Thr235Arg)
| |
17 | g.80107568C>T | CA8814997 | GAA | c.704C>T (p.Thr235Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107568_80107570dup | CA628018322 | GAA | c.704_706dup (p.Thr235_Val236insAla)
| gnomAD v2 gnomAD v4 |
17 | g.80107569G>A | CA8814998 | GAA | c.705G>A (p.Thr235=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107569G>C | CA502402296 | GAA | c.705G>C (p.Thr235=)
| |
17 | g.80107569G= | CA2277812229 | GAA | c.705G= (p.Thr235=)
| |
17 | g.80107569G>T | CA502402297 | GAA | c.705G>T (p.Thr235=)
| |
17 | g.80107570del | CA2695227068 | GAA | c.706del (p.Val236TrpfsTer?)
| |
17 | g.80107570G>A | CA401363030 | GAA | c.706G>A (p.Val236Met)
| |
17 | g.80107570G>C | CA401363032 | GAA | c.706G>C (p.Val236Leu)
| |
17 | g.80107570G= | CA2277812230 | GAA | c.706G= (p.Val236=)
| |
17 | g.80107570G>T | CA8814999 | GAA | c.706G>T (p.Val236Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107571T>A | CA401363042 | GAA | c.707T>A (p.Val236Glu)
| |
17 | g.80107571T>C | CA401363040 | GAA | c.707T>C (p.Val236Ala)
| |
17 | g.80107571T>G | CA401363037 | GAA | c.707T>G (p.Val236Gly)
| |
17 | g.80107572G>A | CA502402305 | GAA | c.708G>A (p.Val236=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107572G>C | CA502402302 | GAA | c.708G>C (p.Val236=)
| |
17 | g.80107572G= | CA2277812231 | GAA | c.708G= (p.Val236=)
| |
17 | g.80107572G>T | CA502402301 | GAA | c.708G>T (p.Val236=)
| ClinVar dbSNP |
17 | g.80107573dup | CA913014088 | GAA | c.709dup (p.Ala237GlyfsTer?)
| |
17 | g.80107573G>A | CA401363045 | GAA | c.709G>A (p.Ala237Thr)
| |
17 | g.80107573G>C | CA401363056 | GAA | c.709G>C (p.Ala237Pro)
| dbSNP |
17 | g.80107573G= | CA2277812232 | GAA | c.709G= (p.Ala237=)
| |
17 | g.80107573G>T | CA401363054 | GAA | c.709G>T (p.Ala237Ser)
| dbSNP gnomAD v4 |
17 | g.80107575_80107576dup | CA658824778 | GAA | c.711_712dup (p.Pro238ArgfsTer31)
| ClinVar dbSNP |
17 | g.80107574C>A | CA401363061 | GAA | c.710C>A (p.Ala237Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107574C= | CA2277812233 | GAA | c.710C= (p.Ala237=)
| |
17 | g.80107574C>G | CA401363065 | GAA | c.710C>G (p.Ala237Gly)
| |
17 | g.80107574C>T | CA116619 | GAA | c.710C>T (p.Ala237Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107575G>A | CA8815000 | GAA | c.711G>A (p.Ala237=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107575G>C | CA502402311 | GAA | c.711G>C (p.Ala237=)
| ClinVar gnomAD v4 |
17 | g.80107575G= | CA2277812234 | GAA | c.711G= (p.Ala237=)
| |
17 | g.80107575G>T | CA502402312 | GAA | c.711G>T (p.Ala237=)
| gnomAD v4 |
17 | g.80107576C>A | CA401363069 | GAA | c.712C>A (p.Pro238Thr)
| |
17 | g.80107576C= | CA2277812235 | GAA | c.712C= (p.Pro238=)
| |
17 | g.80107576C>G | CA401363072 | GAA | c.712C>G (p.Pro238Ala)
| |
17 | g.80107576C>T | CA401363074 | GAA | c.712C>T (p.Pro238Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107577C>A | CA401363076 | GAA | c.713C>A (p.Pro238His)
| |
17 | g.80107577C>G | CA401363079 | GAA | c.713C>G (p.Pro238Arg)
| |
17 | g.80107577C>T | CA401363081 | GAA | c.713C>T (p.Pro238Leu)
| ClinVar |
17 | g.80107578C>A | CA502402316 | GAA | c.714C>A (p.Pro238=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107578C= | CA2277812236 | GAA | c.714C= (p.Pro238=)
| |
17 | g.80107578C>G | CA502402320 | GAA | c.714C>G (p.Pro238=)
| |
17 | g.80107578C>T | CA502402318 | GAA | c.714C>T (p.Pro238=)
| |
17 | g.80107579C>A | CA401363085 | GAA | c.715C>A (p.Leu239Met)
| |
17 | g.80107579C= | CA2277812237 | GAA | c.715C= (p.Leu239=)
| |
17 | g.80107579C>G | CA401363087 | GAA | c.715C>G (p.Leu239Val)
| gnomAD v4 |
17 | g.80107579C>T | CA8815001 | GAA | c.715C>T (p.Leu239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107579_80107580del | CA913014089 | GAA | c.715_716del (p.Leu239ValfsTer?)
| |
17 | g.80107579_80107580delinsCT | CA2277812238 | GAA | c.715_716delinsCT (p.Leu239=)
| |
17 | g.80107580del | CA658795234 | GAA | c.716del (p.Leu239ArgfsTer29)
| ClinVar dbSNP |
17 | g.80107580T>A | CA401363098 | GAA | c.716T>A (p.Leu239Gln)
| |
17 | g.80107580T>C | CA401363096 | GAA | c.716T>C (p.Leu239Pro)
| ClinVar dbSNP |
17 | g.80107580T>G | CA401363093 | GAA | c.716T>G (p.Leu239Arg)
| |
17 | g.80107581G>A | CA502402323 | GAA | c.717G>A (p.Leu239=)
| gnomAD v4 |
17 | g.80107581G>C | CA502402322 | GAA | c.717G>C (p.Leu239=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107581G= | CA2277812239 | GAA | c.717G= (p.Leu239=)
| |
17 | g.80107581G>T | CA502402321 | GAA | c.717G>T (p.Leu239=)
| ClinVar |
17 | g.80107582T>A | CA401363101 | GAA | c.718T>A (p.Phe240Ile)
| |
17 | g.80107582T>C | CA401363104 | GAA | c.718T>C (p.Phe240Leu)
| |
17 | g.80107582T>G | CA401363116 | GAA | c.718T>G (p.Phe240Val)
| |
17 | g.80107583T>A | CA401363117 | GAA | c.719T>A (p.Phe240Tyr)
| |
17 | g.80107583T>C | CA401363119 | GAA | c.719T>C (p.Phe240Ser)
| |
17 | g.80107583T>G | CA401363121 | GAA | c.719T>G (p.Phe240Cys)
| |
17 | g.80107584C>A | CA401363123 | GAA | c.720C>A (p.Phe240Leu)
| |
17 | g.80107584C= | CA2277812240 | GAA | c.720C= (p.Phe240=)
| |
17 | g.80107584C>G | CA401363125 | GAA | c.720C>G (p.Phe240Leu)
| |
17 | g.80107584C>T | CA502402331 | GAA | c.720C>T (p.Phe240=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107584_80107586delinsCTT | CA2277812241 | GAA | c.720_722delinsCTT (p.Phe240=)
| |
17 | g.80107585T>A | CA401363128 | GAA | c.721T>A (p.Phe241Ile)
| |
17 | g.80107585T>C | CA401363131 | GAA | c.721T>C (p.Phe241Leu)
| |
17 | g.80107585T>G | CA401363134 | GAA | c.721T>G (p.Phe241Val)
| |
17 | g.80107586_80107587del | CA658795235 | GAA | c.722_723del (p.Phe241CysfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107586T>A | CA401363140 | GAA | c.722T>A (p.Phe241Tyr)
| |
17 | g.80107586T>C | CA401363142 | GAA | c.722T>C (p.Phe241Ser)
| |
17 | g.80107586T>G | CA401363136 | GAA | c.722T>G (p.Phe241Cys)
| |
17 | g.80107587T>A | CA401363147 | GAA | c.723T>A (p.Phe241Leu)
| |
17 | g.80107587T>C | CA502402338 | GAA | c.723T>C (p.Phe241=)
| ClinVar gnomAD v4 |
17 | g.80107587T>G | CA401363149 | GAA | c.723T>G (p.Phe241Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107587T= | CA2277812242 | GAA | c.723T= (p.Phe241=)
| |
17 | g.80107588G>A | CA401363151 | GAA | c.724G>A (p.Ala242Thr)
| gnomAD v4 |
17 | g.80107588G>C | CA401363154 | GAA | c.724G>C (p.Ala242Pro)
| |
17 | g.80107588G>T | CA401363159 | GAA | c.724G>T (p.Ala242Ser)
| |
17 | g.80107589C>A | CA8815003 | GAA | c.725C>A (p.Ala242Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107589C= | CA2277812243 | GAA | c.725C= (p.Ala242=)
| |
17 | g.80107589C>G | CA401363162 | GAA | c.725C>G (p.Ala242Gly)
| |
17 | g.80107589C>T | CA8815002 | GAA | c.725C>T (p.Ala242Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107590G>A | CA8815004 | GAA | c.726G>A (p.Ala242=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107590G>C | CA502402349 | GAA | c.726G>C (p.Ala242=)
| ClinVar dbSNP |
17 | g.80107590G= | CA2277812244 | GAA | c.726G= (p.Ala242=)
| |
17 | g.80107590G>T | CA502402350 | GAA | c.726G>T (p.Ala242=)
| |
17 | g.80107591G>A | CA401363168 | GAA | c.727G>A (p.Asp243Asn)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107591G>C | CA401363170 | GAA | c.727G>C (p.Asp243His)
| |
17 | g.80107591G= | CA2277812245 | GAA | c.727G= (p.Asp243=)
| |
17 | g.80107591G>T | CA401363171 | GAA | c.727G>T (p.Asp243Tyr)
| |
17 | g.80107591_80107592insCCACCAGGACA | CA2739268462 | GAA | c.727_728insCCACCAGGACA (p.Asp243AlafsTer29)
| ClinVar |
17 | g.80107592A>C | CA401363176 | GAA | c.728A>C (p.Asp243Ala)
| |
17 | g.80107592A>G | CA401363179 | GAA | c.728A>G (p.Asp243Gly)
| |
17 | g.80107592A>T | CA401363174 | GAA | c.728A>T (p.Asp243Val)
| |
17 | g.80107593C>A | CA401363182 | GAA | c.729C>A (p.Asp243Glu)
| COSMIC |
17 | g.80107593C>G | CA401363185 | GAA | c.729C>G (p.Asp243Glu)
| gnomAD v4 |
17 | g.80107593C>T | CA502402354 | GAA | c.729C>T (p.Asp243=)
| ClinVar gnomAD v4 |
17 | g.80107594C>A | CA401363189 | GAA | c.730C>A (p.Gln244Lys)
| |
17 | g.80107594C>G | CA401363191 | GAA | c.730C>G (p.Gln244Glu)
| |
17 | g.80107594C>T | CA401363194 | GAA | c.730C>T (p.Gln244Ter)
| |
17 | g.80107595A>C | CA401363202 | GAA | c.731A>C (p.Gln244Pro)
| |
17 | g.80107595A>G | CA401363198 | GAA | c.731A>G (p.Gln244Arg)
| |
17 | g.80107595A>T | CA401363201 | GAA | c.731A>T (p.Gln244Leu)
| |
17 | g.80107596G>A | CA502402358 | GAA | c.732G>A (p.Gln244=)
| |
17 | g.80107596G>C | CA401363204 | GAA | c.732G>C (p.Gln244His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107596G= | CA2277812246 | GAA | c.732G= (p.Gln244=)
| |
17 | g.80107596G>T | CA401363206 | GAA | c.732G>T (p.Gln244His)
| |
17 | g.80107597T>A | CA401363207 | GAA | c.733T>A (p.Phe245Ile)
| |
17 | g.80107597T>C | CA401363209 | GAA | c.733T>C (p.Phe245Leu)
| |
17 | g.80107597T>G | CA294889597 | GAA | c.733T>G (p.Phe245Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107597T= | CA2277812247 | GAA | c.733T= (p.Phe245=)
| |
17 | g.80107598T>A | CA401363217 | GAA | c.734T>A (p.Phe245Tyr)
| |
17 | g.80107598T>C | CA401363214 | GAA | c.734T>C (p.Phe245Ser)
| |
17 | g.80107598T>G | CA401363212 | GAA | c.734T>G (p.Phe245Cys)
| |
17 | g.80107598_80107599delinsTC | CA2277812248 | GAA | c.734_735delinsTC (p.Phe245=)
| |
17 | g.80107599C>A | CA401363219 | GAA | c.735C>A (p.Phe245Leu)
| gnomAD v4 |
17 | g.80107599C= | CA2277812249 | GAA | c.735C= (p.Phe245=)
| |
17 | g.80107599C>G | CA401363223 | GAA | c.735C>G (p.Phe245Leu)
| |
17 | g.80107599C>T | CA502402359 | GAA | c.735C>T (p.Phe245=)
| ClinVar dbSNP COSMIC |
17 | g.80107600del | CA10606113 | GAA | c.736del (p.Leu246PhefsTer22)
| ClinVar dbSNP |
17 | g.80107600C>A | CA401363228 | GAA | c.736C>A (p.Leu246Ile)
| |
17 | g.80107600C= | CA2277812250 | GAA | c.736C= (p.Leu246=)
| |
17 | g.80107600C>G | CA401363226 | GAA | c.736C>G (p.Leu246Val)
| |
17 | g.80107600C>T | CA8815005 | GAA | c.736C>T (p.Leu246Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107601T>A | CA401363232 | GAA | c.737T>A (p.Leu246His)
| |
17 | g.80107601T>C | CA401363233 | GAA | c.737T>C (p.Leu246Pro)
| |
17 | g.80107601T>G | CA401363235 | GAA | c.737T>G (p.Leu246Arg)
| ClinVar dbSNP |
17 | g.80107601T= | CA2277812251 | GAA | c.737T= (p.Leu246=)
| |
17 | g.80107602T>A | CA502402363 | GAA | c.738T>A (p.Leu246=)
| |
17 | g.80107602T>C | CA502402364 | GAA | c.738T>C (p.Leu246=)
| |
17 | g.80107602T>G | CA502402365 | GAA | c.738T>G (p.Leu246=)
| |
17 | g.80107603C>A | CA401363238 | GAA | c.739C>A (p.Gln247Lys)
| |
17 | g.80107603C>G | CA401363240 | GAA | c.739C>G (p.Gln247Glu)
| |
17 | g.80107603C>T | CA401363242 | GAA | c.739C>T (p.Gln247Ter)
| ClinVar |
17 | g.80107604A>C | CA401363245 | GAA | c.740A>C (p.Gln247Pro)
| |
17 | g.80107604A>G | CA401363248 | GAA | c.740A>G (p.Gln247Arg)
| |
17 | g.80107604A>T | CA401363250 | GAA | c.740A>T (p.Gln247Leu)
| |
17 | g.80107605G>A | CA502402367 | GAA | c.741G>A (p.Gln247=)
| ClinVar |
17 | g.80107605G>C | CA401363255 | GAA | c.741G>C (p.Gln247His)
| dbSNP |
17 | g.80107605G= | CA2277812252 | GAA | c.741G= (p.Gln247=)
| |
17 | g.80107605G>T | CA401363252 | GAA | c.741G>T (p.Gln247His)
| |
17 | g.80107606del | CA658795236 | GAA | c.742del (p.Leu248CysfsTer20)
| ClinVar |
17 | g.80107606C>A | CA401363257 | GAA | c.742C>A (p.Leu248Met)
| |
17 | g.80107606C>G | CA401363258 | GAA | c.742C>G (p.Leu248Val)
| |
17 | g.80107606C>T | CA502402370 | GAA | c.742C>T (p.Leu248=)
| ClinVar gnomAD v4 |
17 | g.80107607T>A | CA401363260 | GAA | c.743T>A (p.Leu248Gln)
| |
17 | g.80107607T>C | CA401363263 | GAA | c.743T>C (p.Leu248Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107607T>G | CA401363265 | GAA | c.743T>G (p.Leu248Arg)
| |
17 | g.80107607T= | CA2277812253 | GAA | c.743T= (p.Leu248=)
| |
17 | g.80107608G>A | CA502402372 | GAA | c.744G>A (p.Leu248=)
| |
17 | g.80107608G>C | CA8815006 | GAA | c.744G>C (p.Leu248=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107608G= | CA2277812254 | GAA | c.744G= (p.Leu248=)
| |
17 | g.80107608G>T | CA502402373 | GAA | c.744G>T (p.Leu248=)
| |