17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
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=)
| |
17 | g.80107609T>A | CA401363268 | GAA | c.745T>A (p.Ser249Thr)
| |
17 | g.80107609T>C | CA401363271 | GAA | c.745T>C (p.Ser249Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107609T>G | CA401363274 | GAA | c.745T>G (p.Ser249Ala)
| |
17 | g.80107609T= | CA2277812255 | GAA | c.745T= (p.Ser249=)
| |
17 | g.80107610C>A | CA401363277 | GAA | c.746C>A (p.Ser249Tyr)
| |
17 | g.80107610C>G | CA401363278 | GAA | c.746C>G (p.Ser249Cys)
| |
17 | g.80107610C>T | CA401363280 | GAA | c.746C>T (p.Ser249Phe)
| |
17 | g.80107612_80107623del | CA2640279336 | GAA | c.748_759del (p.Thr250_Pro253del)
| gnomAD v4 |
17 | g.80107611C>A | CA502402374 | GAA | c.747C>A (p.Ser249=)
| |
17 | g.80107611C= | CA2277812256 | GAA | c.747C= (p.Ser249=)
| |
17 | g.80107611C>G | CA502402375 | GAA | c.747C>G (p.Ser249=)
| ClinVar |
17 | g.80107611C>T | CA502402376 | GAA | c.747C>T (p.Ser249=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107612A= | CA2277812257 | GAA | c.748A= (p.Thr250=)
| |
17 | g.80107612A>C | CA401363288 | GAA | c.748A>C (p.Thr250Pro)
| |
17 | g.80107612A>G | CA401363286 | GAA | c.748A>G (p.Thr250Ala)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107612A>T | CA401363284 | GAA | c.748A>T (p.Thr250Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107613C>A | CA401363292 | GAA | c.749C>A (p.Thr250Asn)
| |
17 | g.80107613C= | CA2277812258 | GAA | c.749C= (p.Thr250=)
| |
17 | g.80107613C>G | CA401363295 | GAA | c.749C>G (p.Thr250Ser)
| |
17 | g.80107613C>T | CA401363297 | GAA | c.749C>T (p.Thr250Ile)
| dbSNP gnomAD v2 |
17 | g.80107619_80107627del | CA2640279352 | GAA | c.755_763del (p.Leu252_Ser254del)
| gnomAD v4 |
17 | g.80107614C>A | CA502402615 | GAA | c.750C>A (p.Thr250=)
| |
17 | g.80107614C>G | CA502402613 | GAA | c.750C>G (p.Thr250=)
| |
17 | g.80107614C>T | CA502402614 | GAA | c.750C>T (p.Thr250=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107615T>A | CA401363302 | GAA | c.751T>A (p.Ser251Thr)
| |
17 | g.80107615T>C | CA401363304 | GAA | c.751T>C (p.Ser251Pro)
| |
17 | g.80107615T>G | CA401363308 | GAA | c.751T>G (p.Ser251Ala)
| |
17 | g.80107616C>A | CA401363310 | GAA | c.752C>A (p.Ser251Ter)
| |
17 | g.80107616C= | CA2277812259 | GAA | c.752C= (p.Ser251=)
| |
17 | g.80107616C>G | CA401363312 | GAA | c.752C>G (p.Ser251Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107616C>T | CA8815007 | GAA | c.752C>T (p.Ser251Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.[80107616C>T;80107625C>T] | CA2573102892 | GAA | c.[752C>T;761C>T] (p.[Ser251Leu;Ser254Leu])
| |
17 | g.80107616_80107625delinsTGCTGCCCTT | CA2695227069 | GAA | c.752_761delinsTGCTGCCCTT (p.Ser251_Ser254delinsLeuLeuProLeu)
| |
17 | g.80107617G>A | CA8815008 | GAA | c.753G>A (p.Ser251=)
| ClinVar dbSNP ExAC gnomAD v4 |
17 | g.80107617G>C | CA502402622 | GAA | c.753G>C (p.Ser251=)
| |
17 | g.80107617G= | CA2277812260 | GAA | c.753G= (p.Ser251=)
| |
17 | g.80107617G>T | CA502402625 | GAA | c.753G>T (p.Ser251=)
| ClinVar dbSNP |
17 | g.80107618C>A | CA401363320 | GAA | c.754C>A (p.Leu252Met)
| |
17 | g.80107618C= | CA2277812261 | GAA | c.754C= (p.Leu252=)
| |
17 | g.80107618C>G | CA401363323 | GAA | c.754C>G (p.Leu252Val)
| |
17 | g.80107618C>T | CA502402627 | GAA | c.754C>T (p.Leu252=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107618dup | CA913014090 | GAA | c.754dup (p.Leu252ProfsTer?)
| |
17 | g.80107619T>A | CA401363329 | GAA | c.755T>A (p.Leu252Gln)
| |
17 | g.80107619T>C | CA401363327 | GAA | c.755T>C (p.Leu252Pro)
| |
17 | g.80107619T>G | CA401363326 | GAA | c.755T>G (p.Leu252Arg)
| |
17 | g.80107619dup | CA658824779 | GAA | c.755dup (p.Pro253AlafsTer?)
| ClinVar dbSNP |
17 | g.80107620G>A | CA502402628 | GAA | c.756G>A (p.Leu252=)
| ClinVar gnomAD v4 |
17 | g.80107620G>C | CA502402629 | GAA | c.756G>C (p.Leu252=)
| |
17 | g.80107620G>T | CA502402630 | GAA | c.756G>T (p.Leu252=)
| |
17 | g.80107620_80107621delinsGC | CA2277812262 | GAA | c.756_757delinsGC (p.Leu252=)
| |
17 | g.80107620_80107621insT | CA2695227070 | GAA | c.756_757insT (p.Pro253SerfsTer?)
| |
17 | g.80107621C>A | CA401363333 | GAA | c.757C>A (p.Pro253Thr)
| |
17 | g.80107621C>G | CA401363335 | GAA | c.757C>G (p.Pro253Ala)
| |
17 | g.80107621C>T | CA401363337 | GAA | c.757C>T (p.Pro253Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107623del | CA916082438 | GAA | c.759del (p.Ser254ArgfsTer14)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107622C>A | CA401363342 | GAA | c.758C>A (p.Pro253His)
| gnomAD v4 |
17 | g.80107622C= | CA2277812263 | GAA | c.758C= (p.Pro253=)
| |
17 | g.80107622C>G | CA401363344 | GAA | c.758C>G (p.Pro253Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107622C>T | CA401363346 | GAA | c.758C>T (p.Pro253Leu)
| |
17 | g.80107623_80107627del | CA2499225002 | GAA | c.759_763del (p.Ser254ValfsTer?)
| dbSNP |
17 | g.80107623C>A | CA502402633 | GAA | c.759C>A (p.Pro253=)
| |
17 | g.80107623C= | CA2277812264 | GAA | c.759C= (p.Pro253=)
| |
17 | g.80107623C>G | CA502402634 | GAA | c.759C>G (p.Pro253=)
| |
17 | g.80107623C>T | CA502402635 | GAA | c.759C>T (p.Pro253=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107624T>A | CA401363351 | GAA | c.760T>A (p.Ser254Thr)
| |
17 | g.80107624T>C | CA401363355 | GAA | c.760T>C (p.Ser254Pro)
| |
17 | g.80107624T>G | CA401363356 | GAA | c.760T>G (p.Ser254Ala)
| |
17 | g.80107625C>A | CA401363360 | GAA | c.761C>A (p.Ser254Ter)
| |
17 | g.80107625C= | CA2277812265 | GAA | c.761C= (p.Ser254=)
| |
17 | g.80107625C>G | CA401363363 | GAA | c.761C>G (p.Ser254Trp)
| gnomAD v4 |
17 | g.80107625C>T | CA8815009 | GAA | c.761C>T (p.Ser254Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107626G>A | CA8815010 | GAA | c.762G>A (p.Ser254=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107626G>C | CA502402638 | GAA | c.762G>C (p.Ser254=)
| gnomAD v4 |
17 | g.80107626G= | CA2277812266 | GAA | c.762G= (p.Ser254=)
| |
17 | g.80107626G>T | CA502402639 | GAA | c.762G>T (p.Ser254=)
| |
17 | g.80107627C>A | CA401363375 | GAA | c.763C>A (p.Gln255Lys)
| |
17 | g.80107627C= | CA2277812267 | GAA | c.763C= (p.Gln255=)
| |
17 | g.80107627C>G | CA401363373 | GAA | c.763C>G (p.Gln255Glu)
| |
17 | g.80107627C>T | CA401363371 | GAA | c.763C>T (p.Gln255Ter)
| ClinVar dbSNP |
17 | g.80107628A= | CA2277812269 | GAA | c.764A= (p.Gln255=)
| |
17 | g.80107628A>C | CA401363381 | GAA | c.764A>C (p.Gln255Pro)
| |
17 | g.80107628A>G | CA401363379 | GAA | c.764A>G (p.Gln255Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107628A>T | CA401363384 | GAA | c.764A>T (p.Gln255Leu)
| |
17 | g.80107628_80107647delinsAGTATATCACAGGCCTCGCC | CA2277812268 | GAA | c.764_783delinsAGTATATCACAGGCCTCGCC (p.Gln255=)
| |
17 | g.80107629G>A | CA502402642 | GAA | c.765G>A (p.Gln255=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107629G>C | CA401363387 | GAA | c.765G>C (p.Gln255His)
| |
17 | g.80107629G= | CA2277812271 | GAA | c.765G= (p.Gln255=)
| |
17 | g.80107629G>T | CA401363390 | GAA | c.765G>T (p.Gln255His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107630_80107648del | CA775511087 | GAA | c.766_784del (p.Tyr256SerfsTer6)
| dbSNP |
17 | g.80107629_80107649delinsGTATATCACAGGCCTCGCCGA | CA2277812270 | GAA | c.765_785delinsGTATATCACAGGCCTCGCCGA (p.Gln255=)
| |
17 | g.80107630T>A | CA401363392 | GAA | c.766T>A (p.Tyr256Asn)
| |
17 | g.80107630T>C | CA401363393 | GAA | c.766T>C (p.Tyr256His)
| gnomAD v4 |
17 | g.80107630T>G | CA401363395 | GAA | c.766T>G (p.Tyr256Asp)
| |
17 | g.80107630T= | CA2277812272 | GAA | c.766T= (p.Tyr256=)
| |
17 | g.80107630_80107634del | CA986723296 | GAA | c.766_770del (p.Tyr256HisfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107630_80107649delinsC | CA274073 | GAA | c.766_785delinsC (p.Tyr256ArgfsTer6)
| ClinVar dbSNP |
17 | g.80107630_80107631insC | CA658824780 | GAA | c.766_767insC (p.Tyr256SerfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107631A= | CA2277812273 | GAA | c.767A= (p.Tyr256=)
| |
17 | g.80107631A>C | CA401363398 | GAA | c.767A>C (p.Tyr256Ser)
| |
17 | g.80107631A>G | CA8815011 | GAA | c.767A>G (p.Tyr256Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107631A>T | CA401363400 | GAA | c.767A>T (p.Tyr256Phe)
| |
17 | g.80107631dup | CA913014092 | GAA | c.767dup (p.Tyr256Ter)
| |
17 | g.80107632T>A | CA401363402 | GAA | c.768T>A (p.Tyr256Ter)
| |
17 | g.80107632T>C | CA502402645 | GAA | c.768T>C (p.Tyr256=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107632T>G | CA401363403 | GAA | c.768T>G (p.Tyr256Ter)
| COSMIC |
17 | g.80107632T= | CA2277812274 | GAA | c.768T= (p.Tyr256=)
| |
17 | g.80107632dup | CA502402648 | GAA | c.768dup (p.Ile257TyrfsTer?)
| ClinVar dbSNP |
17 | g.80107633A= | CA2277812275 | GAA | c.769A= (p.Ile257=)
| |
17 | g.80107633A>C | CA401363404 | GAA | c.769A>C (p.Ile257Leu)
| |
17 | g.80107633A>G | CA8815012 | GAA | c.769A>G (p.Ile257Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107633A>T | CA401363407 | GAA | c.769A>T (p.Ile257Phe)
| gnomAD v4 |
17 | g.80107634T>A | CA401363409 | GAA | c.770T>A (p.Ile257Asn)
| |
17 | g.80107634T>C | CA401363412 | GAA | c.770T>C (p.Ile257Thr)
| |
17 | g.80107634T>G | CA401363410 | GAA | c.770T>G (p.Ile257Ser)
| |
17 | g.80107635C>A | CA502402652 | GAA | c.771C>A (p.Ile257=)
| |
17 | g.80107635C>G | CA401363414 | GAA | c.771C>G (p.Ile257Met)
| |
17 | g.80107635C>T | CA502402651 | GAA | c.771C>T (p.Ile257=)
| |
17 | g.80107636A>C | CA401363416 | GAA | c.772A>C (p.Thr258Pro)
| |
17 | g.80107636A>G | CA401363417 | GAA | c.772A>G (p.Thr258Ala)
| |
17 | g.80107636A>T | CA401363419 | GAA | c.772A>T (p.Thr258Ser)
| |
17 | g.80107636_80107649del | CA986723305 | GAA | c.772_785del (p.Thr258AlafsTer?)
| gnomAD v3 gnomAD v4 |
17 | g.80107637C>A | CA401363421 | GAA | c.773C>A (p.Thr258Lys)
| |
17 | g.80107637C= | CA2277812276 | GAA | c.773C= (p.Thr258=)
| |
17 | g.80107637C>G | CA401363422 | GAA | c.773C>G (p.Thr258Arg)
| ClinVar dbSNP |
17 | g.80107637C>T | CA401363423 | GAA | c.773C>T (p.Thr258Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107638A= | CA2277812277 | GAA | c.774A= (p.Thr258=)
| |
17 | g.80107638A>C | CA8815013 | GAA | c.774A>C (p.Thr258=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107638A>G | CA8815014 | GAA | c.774A>G (p.Thr258=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107638A>T | CA502402658 | GAA | c.774A>T (p.Thr258=)
| gnomAD v4 |
17 | g.80107639G>A | CA401363432 | GAA | c.775G>A (p.Gly259Ser)
| ClinVar dbSNP |
17 | g.80107639G>C | CA401363430 | GAA | c.775G>C (p.Gly259Arg)
| |
17 | g.80107639G>T | CA401363428 | GAA | c.775G>T (p.Gly259Cys)
| |
17 | g.80107640G>A | CA401363434 | GAA | c.776G>A (p.Gly259Asp)
| |
17 | g.80107640G>C | CA401363436 | GAA | c.776G>C (p.Gly259Ala)
| |
17 | g.80107640G>T | CA401363437 | GAA | c.776G>T (p.Gly259Val)
| |
17 | g.80107641C>A | CA502402660 | GAA | c.777C>A (p.Gly259=)
| |
17 | g.80107641C= | CA2277812278 | GAA | c.777C= (p.Gly259=)
| |
17 | g.80107641C>G | CA502402661 | GAA | c.777C>G (p.Gly259=)
| ClinVar |
17 | g.80107641C>T | CA502402662 | GAA | c.777C>T (p.Gly259=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107642C>A | CA401363438 | GAA | c.778C>A (p.Leu260Ile)
| |
17 | g.80107642C>G | CA401363440 | GAA | c.778C>G (p.Leu260Val)
| |
17 | g.80107642C>T | CA401363441 | GAA | c.778C>T (p.Leu260Phe)
| |