17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80107483_80107495del | CA2640278971 | GAA | c.693-74_693-62del (n.693-74_693-62del)
| gnomAD v4 |
17 | g.80107481_80107492delinsGGGGTGCTCTCT | CA2277812175 | GAA | c.693-76_693-65delinsGGGGTGCTCTCT (n.693-76_693-65delinsGGGGTGCTCTCT)
| |
17 | g.80107492_80107502del | CA628018314 | GAA | c.693-65_693-55del (n.693-65_693-55del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107485T>C | CA2277812179 | GAA | c.693-72T>C (n.693-72T>C)
| dbSNP |
17 | g.80107485T= | CA2277812178 | GAA | c.693-72T= (n.693-72T=)
| |
17 | g.80107486G>A | CA2640278980 | GAA | c.693-71G>A (n.693-71G>A)
| gnomAD v4 |
17 | g.80107486G>T | CA2640278982 | GAA | c.693-71G>T (n.693-71G>T)
| gnomAD v4 |
17 | g.80107488T>C | CA2576413970 | GAA | c.693-69T>C (n.693-69T>C)
| |
17 | g.80107488T>G | CA986723196 | GAA | c.693-69T>G (n.693-69T>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107488T= | CA2277812180 | GAA | c.693-69T= (n.693-69T=)
| |
17 | g.80107491C>A | CA2640278983 | GAA | c.693-66C>A (n.693-66C>A)
| gnomAD v4 |
17 | g.80107491C>G | CA2640278984 | GAA | c.693-66C>G (n.693-66C>G)
| gnomAD v4 |
17 | g.80107493G>A | CA294889490 | GAA | c.693-64G>A (n.693-64G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107493G= | CA2277812181 | GAA | c.693-64G= (n.693-64G=)
| |
17 | g.80107493G>T | CA2576413971 | GAA | c.693-64G>T (n.693-64G>T)
| |
17 | g.80107494G>A | CA2576413972 | GAA | c.693-63G>A (n.693-63G>A)
| gnomAD v4 |
17 | g.80107494G>T | CA2563195191 | GAA | c.693-63G>T (n.693-63G>T)
| gnomAD v4 |
17 | g.80107495G= | CA2277812182 | GAA | c.693-62G= (n.693-62G=)
| |
17 | g.80107495G>T | CA2277812183 | GAA | c.693-62G>T (n.693-62G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107496T>C | CA294889504 | GAA | c.693-61T>C (n.693-61T>C)
| dbSNP |
17 | g.80107496T= | CA2277812184 | GAA | c.693-61T= (n.693-61T=)
| |
17 | g.80107497_80107499delinsGCT | CA2277812185 | GAA | c.693-60_693-58delinsGCT (n.693-60_693-58delinsGCT)
| |
17 | g.80107498C= | CA2277812187 | GAA | c.693-59C= (n.693-59C=)
| |
17 | g.80107498C>G | CA2576413973 | GAA | c.693-59C>G (n.693-59C>G)
| |
17 | g.80107498C>T | CA2277812186 | GAA | c.693-59C>T (n.693-59C>T)
| dbSNP |
17 | g.80107501_80107502del | CA986723204 | GAA | c.693-56_693-55del (n.693-56_693-55del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107499T>C | CA2576413974 | GAA | c.693-58T>C (n.693-58T>C)
| |
17 | g.80107499T>G | CA2640279004 | GAA | c.693-58T>G (n.693-58T>G)
| gnomAD v4 |
17 | g.80107500C= | CA2277812188 | GAA | c.693-57C= (n.693-57C=)
| |
17 | g.80107500C>G | CA2277812189 | GAA | c.693-57C>G (n.693-57C>G)
| dbSNP gnomAD v4 |
17 | g.80107500C>T | CA628018315 | GAA | c.693-57C>T (n.693-57C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107503A>G | CA2734096349 | GAA | c.693-54A>G (n.693-54A>G)
| dbSNP |
17 | g.80107504G= | CA2277812190 | GAA | c.693-53G= (n.693-53G=)
| |
17 | g.80107504G>T | CA986723206 | GAA | c.693-53G>T (n.693-53G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107505G>A | CA986723207 | GAA | c.693-52G>A (n.693-52G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107505G= | CA2277812191 | GAA | c.693-52G= (n.693-52G=)
| |
17 | g.80107505G>T | CA2640279007 | GAA | c.693-52G>T (n.693-52G>T)
| gnomAD v4 |
17 | g.80107506C>A | CA2640279008 | GAA | c.693-51C>A (n.693-51C>A)
| gnomAD v4 |
17 | g.80107506C= | CA2277812192 | GAA | c.693-51C= (n.693-51C=)
| |
17 | g.80107506C>T | CA2277812193 | GAA | c.693-51C>T (n.693-51C>T)
| dbSNP gnomAD v4 |
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 |