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 |
|---|---|---|---|---|---|
| 17 | g.39727796_39727797del | CA2637630211 | ERBB2 | c.3520_3521del (p.Ser1174ProfsTer?) c.3430_3431del (p.Ser1144ProfsTer?) c.2692_2693del (p.Ser898ProfsTer?) c.3475_3476del (p.Ser1159ProfsTer?) c.*3310_*3311del (n.*3310_*3311del) c.*99_*100del (n.*99_*100del) n.3844_3845del c.3658_3659del (p.Ser1220ProfsTer?) c.3613_3614del (p.Ser1205ProfsTer?) c.3568_3569del (p.Ser1190ProfsTer?) c.3637_3638del (p.Ser1213ProfsTer?) c.3622_3623del (p.Ser1208ProfsTer?) c.3601_3602del (p.Ser1201ProfsTer?) c.3595_3596del (p.Ser1199ProfsTer?) c.3550_3551del (p.Ser1184ProfsTer?) c.3541_3542del (p.Ser1181ProfsTer?) c.3517_3518del (p.Ser1173ProfsTer?) c.3511_3512del (p.Ser1171ProfsTer?) c.3484_3485del (p.Ser1162ProfsTer?) c.3478_3479del (p.Ser1160ProfsTer?) c.3472_3473del (p.Ser1158ProfsTer?) c.3433_3434del (p.Ser1145ProfsTer?) c.3421_3422del (p.Ser1141ProfsTer?) c.3364_3365del (p.Ser1122ProfsTer?) c.3340_3341del (p.Ser1114ProfsTer?) c.3334_3335del (p.Ser1112ProfsTer?) c.3316_3317del (p.Ser1106ProfsTer?) c.3262_3263del (p.Ser1088ProfsTer?) c.2569_2570del (p.Ser857ProfsTer?) c.2482_2483del (p.Ser828ProfsTer?) n.3758_3759del | gnomAD v4 |
| 17 | g.39727793C>A | CA399313261 | ERBB2 | c.3517C>A (p.Leu1173Ile) c.3427C>A (p.Leu1143Ile) c.2689C>A (p.Leu897Ile) c.3472C>A (p.Leu1158Ile) c.*3307C>A (n.*3307C>A) c.*96C>A (n.*96C>A) n.3841C>A c.3655C>A (p.Leu1219Ile) c.3610C>A (p.Leu1204Ile) c.3565C>A (p.Leu1189Ile) c.3634C>A (p.Leu1212Ile) c.3619C>A (p.Leu1207Ile) c.3598C>A (p.Leu1200Ile) c.3592C>A (p.Leu1198Ile) c.3547C>A (p.Leu1183Ile) c.3538C>A (p.Leu1180Ile) c.3514C>A (p.Leu1172Ile) c.3508C>A (p.Leu1170Ile) c.3481C>A (p.Leu1161Ile) c.3475C>A (p.Leu1159Ile) c.3469C>A (p.Leu1157Ile) c.3430C>A (p.Leu1144Ile) c.3418C>A (p.Leu1140Ile) c.3361C>A (p.Leu1121Ile) c.3337C>A (p.Leu1113Ile) c.3331C>A (p.Leu1111Ile) c.3313C>A (p.Leu1105Ile) c.3259C>A (p.Leu1087Ile) c.2566C>A (p.Leu856Ile) c.2479C>A (p.Leu827Ile) n.3755C>A | |
| 17 | g.39727793C= | CA2259229262 | ERBB2 | c.3517C= (p.Leu1173=) c.3427C= (p.Leu1143=) c.2689C= (p.Leu897=) c.3472C= (p.Leu1158=) c.*3307C= (n.*3307C=) c.*96C= (n.*96C=) n.3841C= c.3655C= (p.Leu1219=) c.3610C= (p.Leu1204=) c.3565C= (p.Leu1189=) c.3634C= (p.Leu1212=) c.3619C= (p.Leu1207=) c.3598C= (p.Leu1200=) c.3592C= (p.Leu1198=) c.3547C= (p.Leu1183=) c.3538C= (p.Leu1180=) c.3514C= (p.Leu1172=) c.3508C= (p.Leu1170=) c.3481C= (p.Leu1161=) c.3475C= (p.Leu1159=) c.3469C= (p.Leu1157=) c.3430C= (p.Leu1144=) c.3418C= (p.Leu1140=) c.3361C= (p.Leu1121=) c.3337C= (p.Leu1113=) c.3331C= (p.Leu1111=) c.3313C= (p.Leu1105=) c.3259C= (p.Leu1087=) c.2566C= (p.Leu856=) c.2479C= (p.Leu827=) n.3755C= | |
| 17 | g.39727793C>G | CA399313263 | ERBB2 | c.3517C>G (p.Leu1173Val) c.3427C>G (p.Leu1143Val) c.2689C>G (p.Leu897Val) c.3472C>G (p.Leu1158Val) c.*3307C>G (n.*3307C>G) c.*96C>G (n.*96C>G) n.3841C>G c.3655C>G (p.Leu1219Val) c.3610C>G (p.Leu1204Val) c.3565C>G (p.Leu1189Val) c.3634C>G (p.Leu1212Val) c.3619C>G (p.Leu1207Val) c.3598C>G (p.Leu1200Val) c.3592C>G (p.Leu1198Val) c.3547C>G (p.Leu1183Val) c.3538C>G (p.Leu1180Val) c.3514C>G (p.Leu1172Val) c.3508C>G (p.Leu1170Val) c.3481C>G (p.Leu1161Val) c.3475C>G (p.Leu1159Val) c.3469C>G (p.Leu1157Val) c.3430C>G (p.Leu1144Val) c.3418C>G (p.Leu1140Val) c.3361C>G (p.Leu1121Val) c.3337C>G (p.Leu1113Val) c.3331C>G (p.Leu1111Val) c.3313C>G (p.Leu1105Val) c.3259C>G (p.Leu1087Val) c.2566C>G (p.Leu856Val) c.2479C>G (p.Leu827Val) n.3755C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39727793C>T | CA399313266 | ERBB2 | c.3517C>T (p.Leu1173Phe) c.3427C>T (p.Leu1143Phe) c.2689C>T (p.Leu897Phe) c.3472C>T (p.Leu1158Phe) c.*3307C>T (n.*3307C>T) c.*96C>T (n.*96C>T) n.3841C>T c.3655C>T (p.Leu1219Phe) c.3610C>T (p.Leu1204Phe) c.3565C>T (p.Leu1189Phe) c.3634C>T (p.Leu1212Phe) c.3619C>T (p.Leu1207Phe) c.3598C>T (p.Leu1200Phe) c.3592C>T (p.Leu1198Phe) c.3547C>T (p.Leu1183Phe) c.3538C>T (p.Leu1180Phe) c.3514C>T (p.Leu1172Phe) c.3508C>T (p.Leu1170Phe) c.3481C>T (p.Leu1161Phe) c.3475C>T (p.Leu1159Phe) c.3469C>T (p.Leu1157Phe) c.3430C>T (p.Leu1144Phe) c.3418C>T (p.Leu1140Phe) c.3361C>T (p.Leu1121Phe) c.3337C>T (p.Leu1113Phe) c.3331C>T (p.Leu1111Phe) c.3313C>T (p.Leu1105Phe) c.3259C>T (p.Leu1087Phe) c.2566C>T (p.Leu856Phe) c.2479C>T (p.Leu827Phe) n.3755C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39727794T>A | CA399313270 | ERBB2 | c.3518T>A (p.Leu1173His) c.3428T>A (p.Leu1143His) c.2690T>A (p.Leu897His) c.3473T>A (p.Leu1158His) c.*3308T>A (n.*3308T>A) c.*97T>A (n.*97T>A) n.3842T>A c.3656T>A (p.Leu1219His) c.3611T>A (p.Leu1204His) c.3566T>A (p.Leu1189His) c.3635T>A (p.Leu1212His) c.3620T>A (p.Leu1207His) c.3599T>A (p.Leu1200His) c.3593T>A (p.Leu1198His) c.3548T>A (p.Leu1183His) c.3539T>A (p.Leu1180His) c.3515T>A (p.Leu1172His) c.3509T>A (p.Leu1170His) c.3482T>A (p.Leu1161His) c.3476T>A (p.Leu1159His) c.3470T>A (p.Leu1157His) c.3431T>A (p.Leu1144His) c.3419T>A (p.Leu1140His) c.3362T>A (p.Leu1121His) c.3338T>A (p.Leu1113His) c.3332T>A (p.Leu1111His) c.3314T>A (p.Leu1105His) c.3260T>A (p.Leu1087His) c.2567T>A (p.Leu856His) c.2480T>A (p.Leu827His) n.3756T>A | dbSNP |
| 17 | g.39727794T>C | CA399313273 | ERBB2 | c.3518T>C (p.Leu1173Pro) c.3428T>C (p.Leu1143Pro) c.2690T>C (p.Leu897Pro) c.3473T>C (p.Leu1158Pro) c.*3308T>C (n.*3308T>C) c.*97T>C (n.*97T>C) n.3842T>C c.3656T>C (p.Leu1219Pro) c.3611T>C (p.Leu1204Pro) c.3566T>C (p.Leu1189Pro) c.3635T>C (p.Leu1212Pro) c.3620T>C (p.Leu1207Pro) c.3599T>C (p.Leu1200Pro) c.3593T>C (p.Leu1198Pro) c.3548T>C (p.Leu1183Pro) c.3539T>C (p.Leu1180Pro) c.3515T>C (p.Leu1172Pro) c.3509T>C (p.Leu1170Pro) c.3482T>C (p.Leu1161Pro) c.3476T>C (p.Leu1159Pro) c.3470T>C (p.Leu1157Pro) c.3431T>C (p.Leu1144Pro) c.3419T>C (p.Leu1140Pro) c.3362T>C (p.Leu1121Pro) c.3338T>C (p.Leu1113Pro) c.3332T>C (p.Leu1111Pro) c.3314T>C (p.Leu1105Pro) c.3260T>C (p.Leu1087Pro) c.2567T>C (p.Leu856Pro) c.2480T>C (p.Leu827Pro) n.3756T>C | dbSNP COSMIC |
| 17 | g.39727794T>G | CA399313277 | ERBB2 | c.3518T>G (p.Leu1173Arg) c.3428T>G (p.Leu1143Arg) c.2690T>G (p.Leu897Arg) c.3473T>G (p.Leu1158Arg) c.*3308T>G (n.*3308T>G) c.*97T>G (n.*97T>G) n.3842T>G c.3656T>G (p.Leu1219Arg) c.3611T>G (p.Leu1204Arg) c.3566T>G (p.Leu1189Arg) c.3635T>G (p.Leu1212Arg) c.3620T>G (p.Leu1207Arg) c.3599T>G (p.Leu1200Arg) c.3593T>G (p.Leu1198Arg) c.3548T>G (p.Leu1183Arg) c.3539T>G (p.Leu1180Arg) c.3515T>G (p.Leu1172Arg) c.3509T>G (p.Leu1170Arg) c.3482T>G (p.Leu1161Arg) c.3476T>G (p.Leu1159Arg) c.3470T>G (p.Leu1157Arg) c.3431T>G (p.Leu1144Arg) c.3419T>G (p.Leu1140Arg) c.3362T>G (p.Leu1121Arg) c.3338T>G (p.Leu1113Arg) c.3332T>G (p.Leu1111Arg) c.3314T>G (p.Leu1105Arg) c.3260T>G (p.Leu1087Arg) c.2567T>G (p.Leu856Arg) c.2480T>G (p.Leu827Arg) n.3756T>G | |
| 17 | g.39727795C>A | CA499890686 | ERBB2 | c.3519C>A (p.Leu1173=) c.3429C>A (p.Leu1143=) c.2691C>A (p.Leu897=) c.3474C>A (p.Leu1158=) c.*3309C>A (n.*3309C>A) c.*98C>A (n.*98C>A) n.3843C>A c.3657C>A (p.Leu1219=) c.3612C>A (p.Leu1204=) c.3567C>A (p.Leu1189=) c.3636C>A (p.Leu1212=) c.3621C>A (p.Leu1207=) c.3600C>A (p.Leu1200=) c.3594C>A (p.Leu1198=) c.3549C>A (p.Leu1183=) c.3540C>A (p.Leu1180=) c.3516C>A (p.Leu1172=) c.3510C>A (p.Leu1170=) c.3483C>A (p.Leu1161=) c.3477C>A (p.Leu1159=) c.3471C>A (p.Leu1157=) c.3432C>A (p.Leu1144=) c.3420C>A (p.Leu1140=) c.3363C>A (p.Leu1121=) c.3339C>A (p.Leu1113=) c.3333C>A (p.Leu1111=) c.3315C>A (p.Leu1105=) c.3261C>A (p.Leu1087=) c.2568C>A (p.Leu856=) c.2481C>A (p.Leu827=) n.3757C>A | dbSNP |
| 17 | g.39727795C= | CA2259229263 | ERBB2 | c.3519C= (p.Leu1173=) c.3429C= (p.Leu1143=) c.2691C= (p.Leu897=) c.3474C= (p.Leu1158=) c.*3309C= (n.*3309C=) c.*98C= (n.*98C=) n.3843C= c.3657C= (p.Leu1219=) c.3612C= (p.Leu1204=) c.3567C= (p.Leu1189=) c.3636C= (p.Leu1212=) c.3621C= (p.Leu1207=) c.3600C= (p.Leu1200=) c.3594C= (p.Leu1198=) c.3549C= (p.Leu1183=) c.3540C= (p.Leu1180=) c.3516C= (p.Leu1172=) c.3510C= (p.Leu1170=) c.3483C= (p.Leu1161=) c.3477C= (p.Leu1159=) c.3471C= (p.Leu1157=) c.3432C= (p.Leu1144=) c.3420C= (p.Leu1140=) c.3363C= (p.Leu1121=) c.3339C= (p.Leu1113=) c.3333C= (p.Leu1111=) c.3315C= (p.Leu1105=) c.3261C= (p.Leu1087=) c.2568C= (p.Leu856=) c.2481C= (p.Leu827=) n.3757C= | |
| 17 | g.39727795C>G | CA499890687 | ERBB2 | c.3519C>G (p.Leu1173=) c.3429C>G (p.Leu1143=) c.2691C>G (p.Leu897=) c.3474C>G (p.Leu1158=) c.*3309C>G (n.*3309C>G) c.*98C>G (n.*98C>G) n.3843C>G c.3657C>G (p.Leu1219=) c.3612C>G (p.Leu1204=) c.3567C>G (p.Leu1189=) c.3636C>G (p.Leu1212=) c.3621C>G (p.Leu1207=) c.3600C>G (p.Leu1200=) c.3594C>G (p.Leu1198=) c.3549C>G (p.Leu1183=) c.3540C>G (p.Leu1180=) c.3516C>G (p.Leu1172=) c.3510C>G (p.Leu1170=) c.3483C>G (p.Leu1161=) c.3477C>G (p.Leu1159=) c.3471C>G (p.Leu1157=) c.3432C>G (p.Leu1144=) c.3420C>G (p.Leu1140=) c.3363C>G (p.Leu1121=) c.3339C>G (p.Leu1113=) c.3333C>G (p.Leu1111=) c.3315C>G (p.Leu1105=) c.3261C>G (p.Leu1087=) c.2568C>G (p.Leu856=) c.2481C>G (p.Leu827=) n.3757C>G | dbSNP COSMIC |
| 17 | g.39727795C>T | CA8534575 | ERBB2 | c.3519C>T (p.Leu1173=) c.3429C>T (p.Leu1143=) c.2691C>T (p.Leu897=) c.3474C>T (p.Leu1158=) c.*3309C>T (n.*3309C>T) c.*98C>T (n.*98C>T) n.3843C>T c.3657C>T (p.Leu1219=) c.3612C>T (p.Leu1204=) c.3567C>T (p.Leu1189=) c.3636C>T (p.Leu1212=) c.3621C>T (p.Leu1207=) c.3600C>T (p.Leu1200=) c.3594C>T (p.Leu1198=) c.3549C>T (p.Leu1183=) c.3540C>T (p.Leu1180=) c.3516C>T (p.Leu1172=) c.3510C>T (p.Leu1170=) c.3483C>T (p.Leu1161=) c.3477C>T (p.Leu1159=) c.3471C>T (p.Leu1157=) c.3432C>T (p.Leu1144=) c.3420C>T (p.Leu1140=) c.3363C>T (p.Leu1121=) c.3339C>T (p.Leu1113=) c.3333C>T (p.Leu1111=) c.3315C>T (p.Leu1105=) c.3261C>T (p.Leu1087=) c.2568C>T (p.Leu856=) c.2481C>T (p.Leu827=) n.3757C>T | dbSNP ExAC gnomAD v2 |
| 17 | g.39727796T>A | CA399313289 | ERBB2 | c.3520T>A (p.Ser1174Thr) c.3430T>A (p.Ser1144Thr) c.2692T>A (p.Ser898Thr) c.3475T>A (p.Ser1159Thr) c.*3310T>A (n.*3310T>A) c.*99T>A (n.*99T>A) n.3844T>A c.3658T>A (p.Ser1220Thr) c.3613T>A (p.Ser1205Thr) c.3568T>A (p.Ser1190Thr) c.3637T>A (p.Ser1213Thr) c.3622T>A (p.Ser1208Thr) c.3601T>A (p.Ser1201Thr) c.3595T>A (p.Ser1199Thr) c.3550T>A (p.Ser1184Thr) c.3541T>A (p.Ser1181Thr) c.3517T>A (p.Ser1173Thr) c.3511T>A (p.Ser1171Thr) c.3484T>A (p.Ser1162Thr) c.3478T>A (p.Ser1160Thr) c.3472T>A (p.Ser1158Thr) c.3433T>A (p.Ser1145Thr) c.3421T>A (p.Ser1141Thr) c.3364T>A (p.Ser1122Thr) c.3340T>A (p.Ser1114Thr) c.3334T>A (p.Ser1112Thr) c.3316T>A (p.Ser1106Thr) c.3262T>A (p.Ser1088Thr) c.2569T>A (p.Ser857Thr) c.2482T>A (p.Ser828Thr) n.3758T>A | |
| 17 | g.39727796T>C | CA399313283 | ERBB2 | c.3520T>C (p.Ser1174Pro) c.3430T>C (p.Ser1144Pro) c.2692T>C (p.Ser898Pro) c.3475T>C (p.Ser1159Pro) c.*3310T>C (n.*3310T>C) c.*99T>C (n.*99T>C) n.3844T>C c.3658T>C (p.Ser1220Pro) c.3613T>C (p.Ser1205Pro) c.3568T>C (p.Ser1190Pro) c.3637T>C (p.Ser1213Pro) c.3622T>C (p.Ser1208Pro) c.3601T>C (p.Ser1201Pro) c.3595T>C (p.Ser1199Pro) c.3550T>C (p.Ser1184Pro) c.3541T>C (p.Ser1181Pro) c.3517T>C (p.Ser1173Pro) c.3511T>C (p.Ser1171Pro) c.3484T>C (p.Ser1162Pro) c.3478T>C (p.Ser1160Pro) c.3472T>C (p.Ser1158Pro) c.3433T>C (p.Ser1145Pro) c.3421T>C (p.Ser1141Pro) c.3364T>C (p.Ser1122Pro) c.3340T>C (p.Ser1114Pro) c.3334T>C (p.Ser1112Pro) c.3316T>C (p.Ser1106Pro) c.3262T>C (p.Ser1088Pro) c.2569T>C (p.Ser857Pro) c.2482T>C (p.Ser828Pro) n.3758T>C | |
| 17 | g.39727796T>G | CA399313286 | ERBB2 | c.3520T>G (p.Ser1174Ala) c.3430T>G (p.Ser1144Ala) c.2692T>G (p.Ser898Ala) c.3475T>G (p.Ser1159Ala) c.*3310T>G (n.*3310T>G) c.*99T>G (n.*99T>G) n.3844T>G c.3658T>G (p.Ser1220Ala) c.3613T>G (p.Ser1205Ala) c.3568T>G (p.Ser1190Ala) c.3637T>G (p.Ser1213Ala) c.3622T>G (p.Ser1208Ala) c.3601T>G (p.Ser1201Ala) c.3595T>G (p.Ser1199Ala) c.3550T>G (p.Ser1184Ala) c.3541T>G (p.Ser1181Ala) c.3517T>G (p.Ser1173Ala) c.3511T>G (p.Ser1171Ala) c.3484T>G (p.Ser1162Ala) c.3478T>G (p.Ser1160Ala) c.3472T>G (p.Ser1158Ala) c.3433T>G (p.Ser1145Ala) c.3421T>G (p.Ser1141Ala) c.3364T>G (p.Ser1122Ala) c.3340T>G (p.Ser1114Ala) c.3334T>G (p.Ser1112Ala) c.3316T>G (p.Ser1106Ala) c.3262T>G (p.Ser1088Ala) c.2569T>G (p.Ser857Ala) c.2482T>G (p.Ser828Ala) n.3758T>G | |
| 17 | g.39727797C>A | CA399313297 | ERBB2 | c.3521C>A (p.Ser1174Tyr) c.3431C>A (p.Ser1144Tyr) c.2693C>A (p.Ser898Tyr) c.3476C>A (p.Ser1159Tyr) c.*3311C>A (n.*3311C>A) c.*100C>A (n.*100C>A) n.3845C>A c.3659C>A (p.Ser1220Tyr) c.3614C>A (p.Ser1205Tyr) c.3569C>A (p.Ser1190Tyr) c.3638C>A (p.Ser1213Tyr) c.3623C>A (p.Ser1208Tyr) c.3602C>A (p.Ser1201Tyr) c.3596C>A (p.Ser1199Tyr) c.3551C>A (p.Ser1184Tyr) c.3542C>A (p.Ser1181Tyr) c.3518C>A (p.Ser1173Tyr) c.3512C>A (p.Ser1171Tyr) c.3485C>A (p.Ser1162Tyr) c.3479C>A (p.Ser1160Tyr) c.3473C>A (p.Ser1158Tyr) c.3434C>A (p.Ser1145Tyr) c.3422C>A (p.Ser1141Tyr) c.3365C>A (p.Ser1122Tyr) c.3341C>A (p.Ser1114Tyr) c.3335C>A (p.Ser1112Tyr) c.3317C>A (p.Ser1106Tyr) c.3263C>A (p.Ser1088Tyr) c.2570C>A (p.Ser857Tyr) c.2483C>A (p.Ser828Tyr) n.3759C>A | dbSNP |
| 17 | g.39727797C= | CA2259229264 | ERBB2 | c.3521C= (p.Ser1174=) c.3431C= (p.Ser1144=) c.2693C= (p.Ser898=) c.3476C= (p.Ser1159=) c.*3311C= (n.*3311C=) c.*100C= (n.*100C=) n.3845C= c.3659C= (p.Ser1220=) c.3614C= (p.Ser1205=) c.3569C= (p.Ser1190=) c.3638C= (p.Ser1213=) c.3623C= (p.Ser1208=) c.3602C= (p.Ser1201=) c.3596C= (p.Ser1199=) c.3551C= (p.Ser1184=) c.3542C= (p.Ser1181=) c.3518C= (p.Ser1173=) c.3512C= (p.Ser1171=) c.3485C= (p.Ser1162=) c.3479C= (p.Ser1160=) c.3473C= (p.Ser1158=) c.3434C= (p.Ser1145=) c.3422C= (p.Ser1141=) c.3365C= (p.Ser1122=) c.3341C= (p.Ser1114=) c.3335C= (p.Ser1112=) c.3317C= (p.Ser1106=) c.3263C= (p.Ser1088=) c.2570C= (p.Ser857=) c.2483C= (p.Ser828=) n.3759C= | |
| 17 | g.39727797C>G | CA399313300 | ERBB2 | c.3521C>G (p.Ser1174Cys) c.3431C>G (p.Ser1144Cys) c.2693C>G (p.Ser898Cys) c.3476C>G (p.Ser1159Cys) c.*3311C>G (n.*3311C>G) c.*100C>G (n.*100C>G) n.3845C>G c.3659C>G (p.Ser1220Cys) c.3614C>G (p.Ser1205Cys) c.3569C>G (p.Ser1190Cys) c.3638C>G (p.Ser1213Cys) c.3623C>G (p.Ser1208Cys) c.3602C>G (p.Ser1201Cys) c.3596C>G (p.Ser1199Cys) c.3551C>G (p.Ser1184Cys) c.3542C>G (p.Ser1181Cys) c.3518C>G (p.Ser1173Cys) c.3512C>G (p.Ser1171Cys) c.3485C>G (p.Ser1162Cys) c.3479C>G (p.Ser1160Cys) c.3473C>G (p.Ser1158Cys) c.3434C>G (p.Ser1145Cys) c.3422C>G (p.Ser1141Cys) c.3365C>G (p.Ser1122Cys) c.3341C>G (p.Ser1114Cys) c.3335C>G (p.Ser1112Cys) c.3317C>G (p.Ser1106Cys) c.3263C>G (p.Ser1088Cys) c.2570C>G (p.Ser857Cys) c.2483C>G (p.Ser828Cys) n.3759C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.39727797C>T | CA399313302 | ERBB2 | c.3521C>T (p.Ser1174Phe) c.3431C>T (p.Ser1144Phe) c.2693C>T (p.Ser898Phe) c.3476C>T (p.Ser1159Phe) c.*3311C>T (n.*3311C>T) c.*100C>T (n.*100C>T) n.3845C>T c.3659C>T (p.Ser1220Phe) c.3614C>T (p.Ser1205Phe) c.3569C>T (p.Ser1190Phe) c.3638C>T (p.Ser1213Phe) c.3623C>T (p.Ser1208Phe) c.3602C>T (p.Ser1201Phe) c.3596C>T (p.Ser1199Phe) c.3551C>T (p.Ser1184Phe) c.3542C>T (p.Ser1181Phe) c.3518C>T (p.Ser1173Phe) c.3512C>T (p.Ser1171Phe) c.3485C>T (p.Ser1162Phe) c.3479C>T (p.Ser1160Phe) c.3473C>T (p.Ser1158Phe) c.3434C>T (p.Ser1145Phe) c.3422C>T (p.Ser1141Phe) c.3365C>T (p.Ser1122Phe) c.3341C>T (p.Ser1114Phe) c.3335C>T (p.Ser1112Phe) c.3317C>T (p.Ser1106Phe) c.3263C>T (p.Ser1088Phe) c.2570C>T (p.Ser857Phe) c.2483C>T (p.Ser828Phe) n.3759C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.39727798C>A | CA499890693 | ERBB2 | c.3522C>A (p.Ser1174=) c.3432C>A (p.Ser1144=) c.2694C>A (p.Ser898=) c.3477C>A (p.Ser1159=) c.*3312C>A (n.*3312C>A) c.*101C>A (n.*101C>A) n.3846C>A c.3660C>A (p.Ser1220=) c.3615C>A (p.Ser1205=) c.3570C>A (p.Ser1190=) c.3639C>A (p.Ser1213=) c.3624C>A (p.Ser1208=) c.3603C>A (p.Ser1201=) c.3597C>A (p.Ser1199=) c.3552C>A (p.Ser1184=) c.3543C>A (p.Ser1181=) c.3519C>A (p.Ser1173=) c.3513C>A (p.Ser1171=) c.3486C>A (p.Ser1162=) c.3480C>A (p.Ser1160=) c.3474C>A (p.Ser1158=) c.3435C>A (p.Ser1145=) c.3423C>A (p.Ser1141=) c.3366C>A (p.Ser1122=) c.3342C>A (p.Ser1114=) c.3336C>A (p.Ser1112=) c.3318C>A (p.Ser1106=) c.3264C>A (p.Ser1088=) c.2571C>A (p.Ser857=) c.2484C>A (p.Ser828=) n.3760C>A | dbSNP |
| 17 | g.39727798C>G | CA499890694 | ERBB2 | c.3522C>G (p.Ser1174=) c.3432C>G (p.Ser1144=) c.2694C>G (p.Ser898=) c.3477C>G (p.Ser1159=) c.*3312C>G (n.*3312C>G) c.*101C>G (n.*101C>G) n.3846C>G c.3660C>G (p.Ser1220=) c.3615C>G (p.Ser1205=) c.3570C>G (p.Ser1190=) c.3639C>G (p.Ser1213=) c.3624C>G (p.Ser1208=) c.3603C>G (p.Ser1201=) c.3597C>G (p.Ser1199=) c.3552C>G (p.Ser1184=) c.3543C>G (p.Ser1181=) c.3519C>G (p.Ser1173=) c.3513C>G (p.Ser1171=) c.3486C>G (p.Ser1162=) c.3480C>G (p.Ser1160=) c.3474C>G (p.Ser1158=) c.3435C>G (p.Ser1145=) c.3423C>G (p.Ser1141=) c.3366C>G (p.Ser1122=) c.3342C>G (p.Ser1114=) c.3336C>G (p.Ser1112=) c.3318C>G (p.Ser1106=) c.3264C>G (p.Ser1088=) c.2571C>G (p.Ser857=) c.2484C>G (p.Ser828=) n.3760C>G | dbSNP |
| 17 | g.39727798C>T | CA499890696 | ERBB2 | c.3522C>T (p.Ser1174=) c.3432C>T (p.Ser1144=) c.2694C>T (p.Ser898=) c.3477C>T (p.Ser1159=) c.*3312C>T (n.*3312C>T) c.*101C>T (n.*101C>T) n.3846C>T c.3660C>T (p.Ser1220=) c.3615C>T (p.Ser1205=) c.3570C>T (p.Ser1190=) c.3639C>T (p.Ser1213=) c.3624C>T (p.Ser1208=) c.3603C>T (p.Ser1201=) c.3597C>T (p.Ser1199=) c.3552C>T (p.Ser1184=) c.3543C>T (p.Ser1181=) c.3519C>T (p.Ser1173=) c.3513C>T (p.Ser1171=) c.3486C>T (p.Ser1162=) c.3480C>T (p.Ser1160=) c.3474C>T (p.Ser1158=) c.3435C>T (p.Ser1145=) c.3423C>T (p.Ser1141=) c.3366C>T (p.Ser1122=) c.3342C>T (p.Ser1114=) c.3336C>T (p.Ser1112=) c.3318C>T (p.Ser1106=) c.3264C>T (p.Ser1088=) c.2571C>T (p.Ser857=) c.2484C>T (p.Ser828=) n.3760C>T | dbSNP gnomAD v4 |
| 17 | g.39727799C>A | CA399313304 | ERBB2 | c.3523C>A (p.Pro1175Thr) c.3433C>A (p.Pro1145Thr) c.2695C>A (p.Pro899Thr) c.3478C>A (p.Pro1160Thr) c.*3313C>A (n.*3313C>A) c.*102C>A (n.*102C>A) n.3847C>A c.3661C>A (p.Pro1221Thr) c.3616C>A (p.Pro1206Thr) c.3571C>A (p.Pro1191Thr) c.3640C>A (p.Pro1214Thr) c.3625C>A (p.Pro1209Thr) c.3604C>A (p.Pro1202Thr) c.3598C>A (p.Pro1200Thr) c.3553C>A (p.Pro1185Thr) c.3544C>A (p.Pro1182Thr) c.3520C>A (p.Pro1174Thr) c.3514C>A (p.Pro1172Thr) c.3487C>A (p.Pro1163Thr) c.3481C>A (p.Pro1161Thr) c.3475C>A (p.Pro1159Thr) c.3436C>A (p.Pro1146Thr) c.3424C>A (p.Pro1142Thr) c.3367C>A (p.Pro1123Thr) c.3343C>A (p.Pro1115Thr) c.3337C>A (p.Pro1113Thr) c.3319C>A (p.Pro1107Thr) c.3265C>A (p.Pro1089Thr) c.2572C>A (p.Pro858Thr) c.2485C>A (p.Pro829Thr) n.3761C>A | dbSNP |
| 17 | g.39727799C= | CA2259229265 | ERBB2 | c.3523C= (p.Pro1175=) c.3433C= (p.Pro1145=) c.2695C= (p.Pro899=) c.3478C= (p.Pro1160=) c.*3313C= (n.*3313C=) c.*102C= (n.*102C=) n.3847C= c.3661C= (p.Pro1221=) c.3616C= (p.Pro1206=) c.3571C= (p.Pro1191=) c.3640C= (p.Pro1214=) c.3625C= (p.Pro1209=) c.3604C= (p.Pro1202=) c.3598C= (p.Pro1200=) c.3553C= (p.Pro1185=) c.3544C= (p.Pro1182=) c.3520C= (p.Pro1174=) c.3514C= (p.Pro1172=) c.3487C= (p.Pro1163=) c.3481C= (p.Pro1161=) c.3475C= (p.Pro1159=) c.3436C= (p.Pro1146=) c.3424C= (p.Pro1142=) c.3367C= (p.Pro1123=) c.3343C= (p.Pro1115=) c.3337C= (p.Pro1113=) c.3319C= (p.Pro1107=) c.3265C= (p.Pro1089=) c.2572C= (p.Pro858=) c.2485C= (p.Pro829=) n.3761C= | |
| 17 | g.39727799C>G | CA399313307 | ERBB2 | c.3523C>G (p.Pro1175Ala) c.3433C>G (p.Pro1145Ala) c.2695C>G (p.Pro899Ala) c.3478C>G (p.Pro1160Ala) c.*3313C>G (n.*3313C>G) c.*102C>G (n.*102C>G) n.3847C>G c.3661C>G (p.Pro1221Ala) c.3616C>G (p.Pro1206Ala) c.3571C>G (p.Pro1191Ala) c.3640C>G (p.Pro1214Ala) c.3625C>G (p.Pro1209Ala) c.3604C>G (p.Pro1202Ala) c.3598C>G (p.Pro1200Ala) c.3553C>G (p.Pro1185Ala) c.3544C>G (p.Pro1182Ala) c.3520C>G (p.Pro1174Ala) c.3514C>G (p.Pro1172Ala) c.3487C>G (p.Pro1163Ala) c.3481C>G (p.Pro1161Ala) c.3475C>G (p.Pro1159Ala) c.3436C>G (p.Pro1146Ala) c.3424C>G (p.Pro1142Ala) c.3367C>G (p.Pro1123Ala) c.3343C>G (p.Pro1115Ala) c.3337C>G (p.Pro1113Ala) c.3319C>G (p.Pro1107Ala) c.3265C>G (p.Pro1089Ala) c.2572C>G (p.Pro858Ala) c.2485C>G (p.Pro829Ala) n.3761C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39727799C>T | CA399313310 | ERBB2 | c.3523C>T (p.Pro1175Ser) c.3433C>T (p.Pro1145Ser) c.2695C>T (p.Pro899Ser) c.3478C>T (p.Pro1160Ser) c.*3313C>T (n.*3313C>T) c.*102C>T (n.*102C>T) n.3847C>T c.3661C>T (p.Pro1221Ser) c.3616C>T (p.Pro1206Ser) c.3571C>T (p.Pro1191Ser) c.3640C>T (p.Pro1214Ser) c.3625C>T (p.Pro1209Ser) c.3604C>T (p.Pro1202Ser) c.3598C>T (p.Pro1200Ser) c.3553C>T (p.Pro1185Ser) c.3544C>T (p.Pro1182Ser) c.3520C>T (p.Pro1174Ser) c.3514C>T (p.Pro1172Ser) c.3487C>T (p.Pro1163Ser) c.3481C>T (p.Pro1161Ser) c.3475C>T (p.Pro1159Ser) c.3436C>T (p.Pro1146Ser) c.3424C>T (p.Pro1142Ser) c.3367C>T (p.Pro1123Ser) c.3343C>T (p.Pro1115Ser) c.3337C>T (p.Pro1113Ser) c.3319C>T (p.Pro1107Ser) c.3265C>T (p.Pro1089Ser) c.2572C>T (p.Pro858Ser) c.2485C>T (p.Pro829Ser) n.3761C>T | dbSNP |
| 17 | g.39727800C>A | CA399313314 | ERBB2 | c.3524C>A (p.Pro1175Gln) c.3434C>A (p.Pro1145Gln) c.2696C>A (p.Pro899Gln) c.3479C>A (p.Pro1160Gln) c.*3314C>A (n.*3314C>A) c.*103C>A (n.*103C>A) n.3848C>A c.3662C>A (p.Pro1221Gln) c.3617C>A (p.Pro1206Gln) c.3572C>A (p.Pro1191Gln) c.3641C>A (p.Pro1214Gln) c.3626C>A (p.Pro1209Gln) c.3605C>A (p.Pro1202Gln) c.3599C>A (p.Pro1200Gln) c.3554C>A (p.Pro1185Gln) c.3545C>A (p.Pro1182Gln) c.3521C>A (p.Pro1174Gln) c.3515C>A (p.Pro1172Gln) c.3488C>A (p.Pro1163Gln) c.3482C>A (p.Pro1161Gln) c.3476C>A (p.Pro1159Gln) c.3437C>A (p.Pro1146Gln) c.3425C>A (p.Pro1142Gln) c.3368C>A (p.Pro1123Gln) c.3344C>A (p.Pro1115Gln) c.3338C>A (p.Pro1113Gln) c.3320C>A (p.Pro1107Gln) c.3266C>A (p.Pro1089Gln) c.2573C>A (p.Pro858Gln) c.2486C>A (p.Pro829Gln) n.3762C>A | dbSNP |
| 17 | g.39727800C= | CA2259229266 | ERBB2 | c.3524C= (p.Pro1175=) c.3434C= (p.Pro1145=) c.2696C= (p.Pro899=) c.3479C= (p.Pro1160=) c.*3314C= (n.*3314C=) c.*103C= (n.*103C=) n.3848C= c.3662C= (p.Pro1221=) c.3617C= (p.Pro1206=) c.3572C= (p.Pro1191=) c.3641C= (p.Pro1214=) c.3626C= (p.Pro1209=) c.3605C= (p.Pro1202=) c.3599C= (p.Pro1200=) c.3554C= (p.Pro1185=) c.3545C= (p.Pro1182=) c.3521C= (p.Pro1174=) c.3515C= (p.Pro1172=) c.3488C= (p.Pro1163=) c.3482C= (p.Pro1161=) c.3476C= (p.Pro1159=) c.3437C= (p.Pro1146=) c.3425C= (p.Pro1142=) c.3368C= (p.Pro1123=) c.3344C= (p.Pro1115=) c.3338C= (p.Pro1113=) c.3320C= (p.Pro1107=) c.3266C= (p.Pro1089=) c.2573C= (p.Pro858=) c.2486C= (p.Pro829=) n.3762C= | |
| 17 | g.39727800C>G | CA399313317 | ERBB2 | c.3524C>G (p.Pro1175Arg) c.3434C>G (p.Pro1145Arg) c.2696C>G (p.Pro899Arg) c.3479C>G (p.Pro1160Arg) c.*3314C>G (n.*3314C>G) c.*103C>G (n.*103C>G) n.3848C>G c.3662C>G (p.Pro1221Arg) c.3617C>G (p.Pro1206Arg) c.3572C>G (p.Pro1191Arg) c.3641C>G (p.Pro1214Arg) c.3626C>G (p.Pro1209Arg) c.3605C>G (p.Pro1202Arg) c.3599C>G (p.Pro1200Arg) c.3554C>G (p.Pro1185Arg) c.3545C>G (p.Pro1182Arg) c.3521C>G (p.Pro1174Arg) c.3515C>G (p.Pro1172Arg) c.3488C>G (p.Pro1163Arg) c.3482C>G (p.Pro1161Arg) c.3476C>G (p.Pro1159Arg) c.3437C>G (p.Pro1146Arg) c.3425C>G (p.Pro1142Arg) c.3368C>G (p.Pro1123Arg) c.3344C>G (p.Pro1115Arg) c.3338C>G (p.Pro1113Arg) c.3320C>G (p.Pro1107Arg) c.3266C>G (p.Pro1089Arg) c.2573C>G (p.Pro858Arg) c.2486C>G (p.Pro829Arg) n.3762C>G | dbSNP COSMIC |
| 17 | g.39727800C>T | CA399313320 | ERBB2 | c.3524C>T (p.Pro1175Leu) c.3434C>T (p.Pro1145Leu) c.2696C>T (p.Pro899Leu) c.3479C>T (p.Pro1160Leu) c.*3314C>T (n.*3314C>T) c.*103C>T (n.*103C>T) n.3848C>T c.3662C>T (p.Pro1221Leu) c.3617C>T (p.Pro1206Leu) c.3572C>T (p.Pro1191Leu) c.3641C>T (p.Pro1214Leu) c.3626C>T (p.Pro1209Leu) c.3605C>T (p.Pro1202Leu) c.3599C>T (p.Pro1200Leu) c.3554C>T (p.Pro1185Leu) c.3545C>T (p.Pro1182Leu) c.3521C>T (p.Pro1174Leu) c.3515C>T (p.Pro1172Leu) c.3488C>T (p.Pro1163Leu) c.3482C>T (p.Pro1161Leu) c.3476C>T (p.Pro1159Leu) c.3437C>T (p.Pro1146Leu) c.3425C>T (p.Pro1142Leu) c.3368C>T (p.Pro1123Leu) c.3344C>T (p.Pro1115Leu) c.3338C>T (p.Pro1113Leu) c.3320C>T (p.Pro1107Leu) c.3266C>T (p.Pro1089Leu) c.2573C>T (p.Pro858Leu) c.2486C>T (p.Pro829Leu) n.3762C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39727801A= | CA2259229268 | ERBB2 | c.3525A= (p.Pro1175=) c.3435A= (p.Pro1145=) c.2697A= (p.Pro899=) c.3480A= (p.Pro1160=) c.*3315A= (n.*3315A=) c.*104A= (n.*104A=) n.3849A= c.3663A= (p.Pro1221=) c.3618A= (p.Pro1206=) c.3573A= (p.Pro1191=) c.3642A= (p.Pro1214=) c.3627A= (p.Pro1209=) c.3606A= (p.Pro1202=) c.3600A= (p.Pro1200=) c.3555A= (p.Pro1185=) c.3546A= (p.Pro1182=) c.3522A= (p.Pro1174=) c.3516A= (p.Pro1172=) c.3489A= (p.Pro1163=) c.3483A= (p.Pro1161=) c.3477A= (p.Pro1159=) c.3438A= (p.Pro1146=) c.3426A= (p.Pro1142=) c.3369A= (p.Pro1123=) c.3345A= (p.Pro1115=) c.3339A= (p.Pro1113=) c.3321A= (p.Pro1107=) c.3267A= (p.Pro1089=) c.2574A= (p.Pro858=) c.2487A= (p.Pro829=) n.3763A= | |
| 17 | g.39727801A>C | CA499890700 | ERBB2 | c.3525A>C (p.Pro1175=) c.3435A>C (p.Pro1145=) c.2697A>C (p.Pro899=) c.3480A>C (p.Pro1160=) c.*3315A>C (n.*3315A>C) c.*104A>C (n.*104A>C) n.3849A>C c.3663A>C (p.Pro1221=) c.3618A>C (p.Pro1206=) c.3573A>C (p.Pro1191=) c.3642A>C (p.Pro1214=) c.3627A>C (p.Pro1209=) c.3606A>C (p.Pro1202=) c.3600A>C (p.Pro1200=) c.3555A>C (p.Pro1185=) c.3546A>C (p.Pro1182=) c.3522A>C (p.Pro1174=) c.3516A>C (p.Pro1172=) c.3489A>C (p.Pro1163=) c.3483A>C (p.Pro1161=) c.3477A>C (p.Pro1159=) c.3438A>C (p.Pro1146=) c.3426A>C (p.Pro1142=) c.3369A>C (p.Pro1123=) c.3345A>C (p.Pro1115=) c.3339A>C (p.Pro1113=) c.3321A>C (p.Pro1107=) c.3267A>C (p.Pro1089=) c.2574A>C (p.Pro858=) c.2487A>C (p.Pro829=) n.3763A>C | dbSNP |
| 17 | g.39727801A>G | CA499890701 | ERBB2 | c.3525A>G (p.Pro1175=) c.3435A>G (p.Pro1145=) c.2697A>G (p.Pro899=) c.3480A>G (p.Pro1160=) c.*3315A>G (n.*3315A>G) c.*104A>G (n.*104A>G) n.3849A>G c.3663A>G (p.Pro1221=) c.3618A>G (p.Pro1206=) c.3573A>G (p.Pro1191=) c.3642A>G (p.Pro1214=) c.3627A>G (p.Pro1209=) c.3606A>G (p.Pro1202=) c.3600A>G (p.Pro1200=) c.3555A>G (p.Pro1185=) c.3546A>G (p.Pro1182=) c.3522A>G (p.Pro1174=) c.3516A>G (p.Pro1172=) c.3489A>G (p.Pro1163=) c.3483A>G (p.Pro1161=) c.3477A>G (p.Pro1159=) c.3438A>G (p.Pro1146=) c.3426A>G (p.Pro1142=) c.3369A>G (p.Pro1123=) c.3345A>G (p.Pro1115=) c.3339A>G (p.Pro1113=) c.3321A>G (p.Pro1107=) c.3267A>G (p.Pro1089=) c.2574A>G (p.Pro858=) c.2487A>G (p.Pro829=) n.3763A>G | dbSNP gnomAD v4 |
| 17 | g.39727801A>T | CA499890702 | ERBB2 | c.3525A>T (p.Pro1175=) c.3435A>T (p.Pro1145=) c.2697A>T (p.Pro899=) c.3480A>T (p.Pro1160=) c.*3315A>T (n.*3315A>T) c.*104A>T (n.*104A>T) n.3849A>T c.3663A>T (p.Pro1221=) c.3618A>T (p.Pro1206=) c.3573A>T (p.Pro1191=) c.3642A>T (p.Pro1214=) c.3627A>T (p.Pro1209=) c.3606A>T (p.Pro1202=) c.3600A>T (p.Pro1200=) c.3555A>T (p.Pro1185=) c.3546A>T (p.Pro1182=) c.3522A>T (p.Pro1174=) c.3516A>T (p.Pro1172=) c.3489A>T (p.Pro1163=) c.3483A>T (p.Pro1161=) c.3477A>T (p.Pro1159=) c.3438A>T (p.Pro1146=) c.3426A>T (p.Pro1142=) c.3369A>T (p.Pro1123=) c.3345A>T (p.Pro1115=) c.3339A>T (p.Pro1113=) c.3321A>T (p.Pro1107=) c.3267A>T (p.Pro1089=) c.2574A>T (p.Pro858=) c.2487A>T (p.Pro829=) n.3763A>T | |
| 17 | g.39727801_39727802delinsAG | CA2259229267 | ERBB2 | c.3525_3526delinsAG (p.Pro1175=) c.3435_3436delinsAG (p.Pro1145=) c.2697_2698delinsAG (p.Pro899=) c.3480_3481delinsAG (p.Pro1160=) c.*3315_*3316delinsAG (n.*3315_*3316delinsAG) c.*104_*105delinsAG (n.*104_*105delinsAG) n.3849_3850delinsAG c.3663_3664delinsAG (p.Pro1221=) c.3618_3619delinsAG (p.Pro1206=) c.3573_3574delinsAG (p.Pro1191=) c.3642_3643delinsAG (p.Pro1214=) c.3627_3628delinsAG (p.Pro1209=) c.3606_3607delinsAG (p.Pro1202=) c.3600_3601delinsAG (p.Pro1200=) c.3555_3556delinsAG (p.Pro1185=) c.3546_3547delinsAG (p.Pro1182=) c.3522_3523delinsAG (p.Pro1174=) c.3516_3517delinsAG (p.Pro1172=) c.3489_3490delinsAG (p.Pro1163=) c.3483_3484delinsAG (p.Pro1161=) c.3477_3478delinsAG (p.Pro1159=) c.3438_3439delinsAG (p.Pro1146=) c.3426_3427delinsAG (p.Pro1142=) c.3369_3370delinsAG (p.Pro1123=) c.3345_3346delinsAG (p.Pro1115=) c.3339_3340delinsAG (p.Pro1113=) c.3321_3322delinsAG (p.Pro1107=) c.3267_3268delinsAG (p.Pro1089=) c.2574_2575delinsAG (p.Pro858=) c.2487_2488delinsAG (p.Pro829=) n.3763_3764delinsAG | |
| 17 | g.39727802G>A | CA399313324 | ERBB2 | c.3526G>A (p.Gly1176Arg) c.3436G>A (p.Gly1146Arg) c.2698G>A (p.Gly900Arg) c.3481G>A (p.Gly1161Arg) c.*3316G>A (n.*3316G>A) c.*105G>A (n.*105G>A) n.3850G>A c.3664G>A (p.Gly1222Arg) c.3619G>A (p.Gly1207Arg) c.3574G>A (p.Gly1192Arg) c.3643G>A (p.Gly1215Arg) c.3628G>A (p.Gly1210Arg) c.3607G>A (p.Gly1203Arg) c.3601G>A (p.Gly1201Arg) c.3556G>A (p.Gly1186Arg) c.3547G>A (p.Gly1183Arg) c.3523G>A (p.Gly1175Arg) c.3517G>A (p.Gly1173Arg) c.3490G>A (p.Gly1164Arg) c.3484G>A (p.Gly1162Arg) c.3478G>A (p.Gly1160Arg) c.3439G>A (p.Gly1147Arg) c.3427G>A (p.Gly1143Arg) c.3370G>A (p.Gly1124Arg) c.3346G>A (p.Gly1116Arg) c.3340G>A (p.Gly1114Arg) c.3322G>A (p.Gly1108Arg) c.3268G>A (p.Gly1090Arg) c.2575G>A (p.Gly859Arg) c.2488G>A (p.Gly830Arg) n.3764G>A | dbSNP |
| 17 | g.39727802G>C | CA399313326 | ERBB2 | c.3526G>C (p.Gly1176Arg) c.3436G>C (p.Gly1146Arg) c.2698G>C (p.Gly900Arg) c.3481G>C (p.Gly1161Arg) c.*3316G>C (n.*3316G>C) c.*105G>C (n.*105G>C) n.3850G>C c.3664G>C (p.Gly1222Arg) c.3619G>C (p.Gly1207Arg) c.3574G>C (p.Gly1192Arg) c.3643G>C (p.Gly1215Arg) c.3628G>C (p.Gly1210Arg) c.3607G>C (p.Gly1203Arg) c.3601G>C (p.Gly1201Arg) c.3556G>C (p.Gly1186Arg) c.3547G>C (p.Gly1183Arg) c.3523G>C (p.Gly1175Arg) c.3517G>C (p.Gly1173Arg) c.3490G>C (p.Gly1164Arg) c.3484G>C (p.Gly1162Arg) c.3478G>C (p.Gly1160Arg) c.3439G>C (p.Gly1147Arg) c.3427G>C (p.Gly1143Arg) c.3370G>C (p.Gly1124Arg) c.3346G>C (p.Gly1116Arg) c.3340G>C (p.Gly1114Arg) c.3322G>C (p.Gly1108Arg) c.3268G>C (p.Gly1090Arg) c.2575G>C (p.Gly859Arg) c.2488G>C (p.Gly830Arg) n.3764G>C | dbSNP |
| 17 | g.39727802G>T | CA399313330 | ERBB2 | c.3526G>T (p.Gly1176Trp) c.3436G>T (p.Gly1146Trp) c.2698G>T (p.Gly900Trp) c.3481G>T (p.Gly1161Trp) c.*3316G>T (n.*3316G>T) c.*105G>T (n.*105G>T) n.3850G>T c.3664G>T (p.Gly1222Trp) c.3619G>T (p.Gly1207Trp) c.3574G>T (p.Gly1192Trp) c.3643G>T (p.Gly1215Trp) c.3628G>T (p.Gly1210Trp) c.3607G>T (p.Gly1203Trp) c.3601G>T (p.Gly1201Trp) c.3556G>T (p.Gly1186Trp) c.3547G>T (p.Gly1183Trp) c.3523G>T (p.Gly1175Trp) c.3517G>T (p.Gly1173Trp) c.3490G>T (p.Gly1164Trp) c.3484G>T (p.Gly1162Trp) c.3478G>T (p.Gly1160Trp) c.3439G>T (p.Gly1147Trp) c.3427G>T (p.Gly1143Trp) c.3370G>T (p.Gly1124Trp) c.3346G>T (p.Gly1116Trp) c.3340G>T (p.Gly1114Trp) c.3322G>T (p.Gly1108Trp) c.3268G>T (p.Gly1090Trp) c.2575G>T (p.Gly859Trp) c.2488G>T (p.Gly830Trp) n.3764G>T | dbSNP |
| 17 | g.39727804del | CA626209437 | ERBB2 | c.3528del (p.Lys1177ArgfsTer21) c.3438del (p.Lys1147ArgfsTer21) c.2700del (p.Lys901ArgfsTer21) c.3483del (p.Lys1162ArgfsTer21) c.*3318del (n.*3318del) c.*107del (n.*107del) n.3852del c.3666del (p.Lys1223ArgfsTer21) c.3621del (p.Lys1208ArgfsTer21) c.3576del (p.Lys1193ArgfsTer21) c.3645del (p.Lys1216ArgfsTer21) c.3630del (p.Lys1211ArgfsTer21) c.3609del (p.Lys1204ArgfsTer21) c.3603del (p.Lys1202ArgfsTer21) c.3558del (p.Lys1187ArgfsTer21) c.3549del (p.Lys1184ArgfsTer21) c.3525del (p.Lys1176ArgfsTer21) c.3519del (p.Lys1174ArgfsTer21) c.3492del (p.Lys1165ArgfsTer21) c.3486del (p.Lys1163ArgfsTer21) c.3480del (p.Lys1161ArgfsTer21) c.3441del (p.Lys1148ArgfsTer21) c.3429del (p.Lys1144ArgfsTer21) c.3372del (p.Lys1125ArgfsTer21) c.3348del (p.Lys1117ArgfsTer21) c.3342del (p.Lys1115ArgfsTer21) c.3324del (p.Lys1109ArgfsTer21) c.3270del (p.Lys1091ArgfsTer21) c.2577del (p.Lys860ArgfsTer21) c.2490del (p.Lys831ArgfsTer21) n.3766del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39727803G>A | CA399313337 | ERBB2 | c.3527G>A (p.Gly1176Glu) c.3437G>A (p.Gly1146Glu) c.2699G>A (p.Gly900Glu) c.3482G>A (p.Gly1161Glu) c.*3317G>A (n.*3317G>A) c.*106G>A (n.*106G>A) n.3851G>A c.3665G>A (p.Gly1222Glu) c.3620G>A (p.Gly1207Glu) c.3575G>A (p.Gly1192Glu) c.3644G>A (p.Gly1215Glu) c.3629G>A (p.Gly1210Glu) c.3608G>A (p.Gly1203Glu) c.3602G>A (p.Gly1201Glu) c.3557G>A (p.Gly1186Glu) c.3548G>A (p.Gly1183Glu) c.3524G>A (p.Gly1175Glu) c.3518G>A (p.Gly1173Glu) c.3491G>A (p.Gly1164Glu) c.3485G>A (p.Gly1162Glu) c.3479G>A (p.Gly1160Glu) c.3440G>A (p.Gly1147Glu) c.3428G>A (p.Gly1143Glu) c.3371G>A (p.Gly1124Glu) c.3347G>A (p.Gly1116Glu) c.3341G>A (p.Gly1114Glu) c.3323G>A (p.Gly1108Glu) c.3269G>A (p.Gly1090Glu) c.2576G>A (p.Gly859Glu) c.2489G>A (p.Gly830Glu) n.3765G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39727803G>C | CA399313340 | ERBB2 | c.3527G>C (p.Gly1176Ala) c.3437G>C (p.Gly1146Ala) c.2699G>C (p.Gly900Ala) c.3482G>C (p.Gly1161Ala) c.*3317G>C (n.*3317G>C) c.*106G>C (n.*106G>C) n.3851G>C c.3665G>C (p.Gly1222Ala) c.3620G>C (p.Gly1207Ala) c.3575G>C (p.Gly1192Ala) c.3644G>C (p.Gly1215Ala) c.3629G>C (p.Gly1210Ala) c.3608G>C (p.Gly1203Ala) c.3602G>C (p.Gly1201Ala) c.3557G>C (p.Gly1186Ala) c.3548G>C (p.Gly1183Ala) c.3524G>C (p.Gly1175Ala) c.3518G>C (p.Gly1173Ala) c.3491G>C (p.Gly1164Ala) c.3485G>C (p.Gly1162Ala) c.3479G>C (p.Gly1160Ala) c.3440G>C (p.Gly1147Ala) c.3428G>C (p.Gly1143Ala) c.3371G>C (p.Gly1124Ala) c.3347G>C (p.Gly1116Ala) c.3341G>C (p.Gly1114Ala) c.3323G>C (p.Gly1108Ala) c.3269G>C (p.Gly1090Ala) c.2576G>C (p.Gly859Ala) c.2489G>C (p.Gly830Ala) n.3765G>C | |
| 17 | g.39727803G= | CA2259229269 | ERBB2 | c.3527G= (p.Gly1176=) c.3437G= (p.Gly1146=) c.2699G= (p.Gly900=) c.3482G= (p.Gly1161=) c.*3317G= (n.*3317G=) c.*106G= (n.*106G=) n.3851G= c.3665G= (p.Gly1222=) c.3620G= (p.Gly1207=) c.3575G= (p.Gly1192=) c.3644G= (p.Gly1215=) c.3629G= (p.Gly1210=) c.3608G= (p.Gly1203=) c.3602G= (p.Gly1201=) c.3557G= (p.Gly1186=) c.3548G= (p.Gly1183=) c.3524G= (p.Gly1175=) c.3518G= (p.Gly1173=) c.3491G= (p.Gly1164=) c.3485G= (p.Gly1162=) c.3479G= (p.Gly1160=) c.3440G= (p.Gly1147=) c.3428G= (p.Gly1143=) c.3371G= (p.Gly1124=) c.3347G= (p.Gly1116=) c.3341G= (p.Gly1114=) c.3323G= (p.Gly1108=) c.3269G= (p.Gly1090=) c.2576G= (p.Gly859=) c.2489G= (p.Gly830=) n.3765G= | |
| 17 | g.39727803G>T | CA399313335 | ERBB2 | c.3527G>T (p.Gly1176Val) c.3437G>T (p.Gly1146Val) c.2699G>T (p.Gly900Val) c.3482G>T (p.Gly1161Val) c.*3317G>T (n.*3317G>T) c.*106G>T (n.*106G>T) n.3851G>T c.3665G>T (p.Gly1222Val) c.3620G>T (p.Gly1207Val) c.3575G>T (p.Gly1192Val) c.3644G>T (p.Gly1215Val) c.3629G>T (p.Gly1210Val) c.3608G>T (p.Gly1203Val) c.3602G>T (p.Gly1201Val) c.3557G>T (p.Gly1186Val) c.3548G>T (p.Gly1183Val) c.3524G>T (p.Gly1175Val) c.3518G>T (p.Gly1173Val) c.3491G>T (p.Gly1164Val) c.3485G>T (p.Gly1162Val) c.3479G>T (p.Gly1160Val) c.3440G>T (p.Gly1147Val) c.3428G>T (p.Gly1143Val) c.3371G>T (p.Gly1124Val) c.3347G>T (p.Gly1116Val) c.3341G>T (p.Gly1114Val) c.3323G>T (p.Gly1108Val) c.3269G>T (p.Gly1090Val) c.2576G>T (p.Gly859Val) c.2489G>T (p.Gly830Val) n.3765G>T | dbSNP |
| 17 | g.39727804G>A | CA499890708 | ERBB2 | c.3528G>A (p.Gly1176=) c.3438G>A (p.Gly1146=) c.2700G>A (p.Gly900=) c.3483G>A (p.Gly1161=) c.*3318G>A (n.*3318G>A) c.*107G>A (n.*107G>A) n.3852G>A c.3666G>A (p.Gly1222=) c.3621G>A (p.Gly1207=) c.3576G>A (p.Gly1192=) c.3645G>A (p.Gly1215=) c.3630G>A (p.Gly1210=) c.3609G>A (p.Gly1203=) c.3603G>A (p.Gly1201=) c.3558G>A (p.Gly1186=) c.3549G>A (p.Gly1183=) c.3525G>A (p.Gly1175=) c.3519G>A (p.Gly1173=) c.3492G>A (p.Gly1164=) c.3486G>A (p.Gly1162=) c.3480G>A (p.Gly1160=) c.3441G>A (p.Gly1147=) c.3429G>A (p.Gly1143=) c.3372G>A (p.Gly1124=) c.3348G>A (p.Gly1116=) c.3342G>A (p.Gly1114=) c.3324G>A (p.Gly1108=) c.3270G>A (p.Gly1090=) c.2577G>A (p.Gly859=) c.2490G>A (p.Gly830=) n.3766G>A | dbSNP gnomAD v4 |
| 17 | g.39727804G>C | CA499890709 | ERBB2 | c.3528G>C (p.Gly1176=) c.3438G>C (p.Gly1146=) c.2700G>C (p.Gly900=) c.3483G>C (p.Gly1161=) c.*3318G>C (n.*3318G>C) c.*107G>C (n.*107G>C) n.3852G>C c.3666G>C (p.Gly1222=) c.3621G>C (p.Gly1207=) c.3576G>C (p.Gly1192=) c.3645G>C (p.Gly1215=) c.3630G>C (p.Gly1210=) c.3609G>C (p.Gly1203=) c.3603G>C (p.Gly1201=) c.3558G>C (p.Gly1186=) c.3549G>C (p.Gly1183=) c.3525G>C (p.Gly1175=) c.3519G>C (p.Gly1173=) c.3492G>C (p.Gly1164=) c.3486G>C (p.Gly1162=) c.3480G>C (p.Gly1160=) c.3441G>C (p.Gly1147=) c.3429G>C (p.Gly1143=) c.3372G>C (p.Gly1124=) c.3348G>C (p.Gly1116=) c.3342G>C (p.Gly1114=) c.3324G>C (p.Gly1108=) c.3270G>C (p.Gly1090=) c.2577G>C (p.Gly859=) c.2490G>C (p.Gly830=) n.3766G>C | |
| 17 | g.39727804G>T | CA499890707 | ERBB2 | c.3528G>T (p.Gly1176=) c.3438G>T (p.Gly1146=) c.2700G>T (p.Gly900=) c.3483G>T (p.Gly1161=) c.*3318G>T (n.*3318G>T) c.*107G>T (n.*107G>T) n.3852G>T c.3666G>T (p.Gly1222=) c.3621G>T (p.Gly1207=) c.3576G>T (p.Gly1192=) c.3645G>T (p.Gly1215=) c.3630G>T (p.Gly1210=) c.3609G>T (p.Gly1203=) c.3603G>T (p.Gly1201=) c.3558G>T (p.Gly1186=) c.3549G>T (p.Gly1183=) c.3525G>T (p.Gly1175=) c.3519G>T (p.Gly1173=) c.3492G>T (p.Gly1164=) c.3486G>T (p.Gly1162=) c.3480G>T (p.Gly1160=) c.3441G>T (p.Gly1147=) c.3429G>T (p.Gly1143=) c.3372G>T (p.Gly1124=) c.3348G>T (p.Gly1116=) c.3342G>T (p.Gly1114=) c.3324G>T (p.Gly1108=) c.3270G>T (p.Gly1090=) c.2577G>T (p.Gly859=) c.2490G>T (p.Gly830=) n.3766G>T | dbSNP |
| 17 | g.39727807_39727809del | CA2637630317 | ERBB2 | c.3531_3533del (p.Lys1177del) c.3441_3443del (p.Lys1147del) c.2703_2705del (p.Lys901del) c.3486_3488del (p.Lys1162del) c.*3321_*3323del (n.*3321_*3323del) c.*110_*112del (n.*110_*112del) n.3855_3857del c.3669_3671del (p.Lys1223del) c.3624_3626del (p.Lys1208del) c.3579_3581del (p.Lys1193del) c.3648_3650del (p.Lys1216del) c.3633_3635del (p.Lys1211del) c.3612_3614del (p.Lys1204del) c.3606_3608del (p.Lys1202del) c.3561_3563del (p.Lys1187del) c.3552_3554del (p.Lys1184del) c.3528_3530del (p.Lys1176del) c.3522_3524del (p.Lys1174del) c.3495_3497del (p.Lys1165del) c.3489_3491del (p.Lys1163del) c.3483_3485del (p.Lys1161del) c.3444_3446del (p.Lys1148del) c.3432_3434del (p.Lys1144del) c.3375_3377del (p.Lys1125del) c.3351_3353del (p.Lys1117del) c.3345_3347del (p.Lys1115del) c.3327_3329del (p.Lys1109del) c.3273_3275del (p.Lys1091del) c.2580_2582del (p.Lys860del) c.2493_2495del (p.Lys831del) n.3769_3771del | gnomAD v4 |
| 17 | g.39727805A= | CA2259229270 | ERBB2 | c.3529A= (p.Lys1177=) c.3439A= (p.Lys1147=) c.2701A= (p.Lys901=) c.3484A= (p.Lys1162=) c.*3319A= (n.*3319A=) c.*108A= (n.*108A=) n.3853A= c.3667A= (p.Lys1223=) c.3622A= (p.Lys1208=) c.3577A= (p.Lys1193=) c.3646A= (p.Lys1216=) c.3631A= (p.Lys1211=) c.3610A= (p.Lys1204=) c.3604A= (p.Lys1202=) c.3559A= (p.Lys1187=) c.3550A= (p.Lys1184=) c.3526A= (p.Lys1176=) c.3520A= (p.Lys1174=) c.3493A= (p.Lys1165=) c.3487A= (p.Lys1163=) c.3481A= (p.Lys1161=) c.3442A= (p.Lys1148=) c.3430A= (p.Lys1144=) c.3373A= (p.Lys1125=) c.3349A= (p.Lys1117=) c.3343A= (p.Lys1115=) c.3325A= (p.Lys1109=) c.3271A= (p.Lys1091=) c.2578A= (p.Lys860=) c.2491A= (p.Lys831=) n.3767A= | |
| 17 | g.39727805A>C | CA399313349 | ERBB2 | c.3529A>C (p.Lys1177Gln) c.3439A>C (p.Lys1147Gln) c.2701A>C (p.Lys901Gln) c.3484A>C (p.Lys1162Gln) c.*3319A>C (n.*3319A>C) c.*108A>C (n.*108A>C) n.3853A>C c.3667A>C (p.Lys1223Gln) c.3622A>C (p.Lys1208Gln) c.3577A>C (p.Lys1193Gln) c.3646A>C (p.Lys1216Gln) c.3631A>C (p.Lys1211Gln) c.3610A>C (p.Lys1204Gln) c.3604A>C (p.Lys1202Gln) c.3559A>C (p.Lys1187Gln) c.3550A>C (p.Lys1184Gln) c.3526A>C (p.Lys1176Gln) c.3520A>C (p.Lys1174Gln) c.3493A>C (p.Lys1165Gln) c.3487A>C (p.Lys1163Gln) c.3481A>C (p.Lys1161Gln) c.3442A>C (p.Lys1148Gln) c.3430A>C (p.Lys1144Gln) c.3373A>C (p.Lys1125Gln) c.3349A>C (p.Lys1117Gln) c.3343A>C (p.Lys1115Gln) c.3325A>C (p.Lys1109Gln) c.3271A>C (p.Lys1091Gln) c.2578A>C (p.Lys860Gln) c.2491A>C (p.Lys831Gln) n.3767A>C | |
| 17 | g.39727805A>G | CA399313345 | ERBB2 | c.3529A>G (p.Lys1177Glu) c.3439A>G (p.Lys1147Glu) c.2701A>G (p.Lys901Glu) c.3484A>G (p.Lys1162Glu) c.*3319A>G (n.*3319A>G) c.*108A>G (n.*108A>G) n.3853A>G c.3667A>G (p.Lys1223Glu) c.3622A>G (p.Lys1208Glu) c.3577A>G (p.Lys1193Glu) c.3646A>G (p.Lys1216Glu) c.3631A>G (p.Lys1211Glu) c.3610A>G (p.Lys1204Glu) c.3604A>G (p.Lys1202Glu) c.3559A>G (p.Lys1187Glu) c.3550A>G (p.Lys1184Glu) c.3526A>G (p.Lys1176Glu) c.3520A>G (p.Lys1174Glu) c.3493A>G (p.Lys1165Glu) c.3487A>G (p.Lys1163Glu) c.3481A>G (p.Lys1161Glu) c.3442A>G (p.Lys1148Glu) c.3430A>G (p.Lys1144Glu) c.3373A>G (p.Lys1125Glu) c.3349A>G (p.Lys1117Glu) c.3343A>G (p.Lys1115Glu) c.3325A>G (p.Lys1109Glu) c.3271A>G (p.Lys1091Glu) c.2578A>G (p.Lys860Glu) c.2491A>G (p.Lys831Glu) n.3767A>G | dbSNP |