| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338072dup | CA2695218192 | BRCA2 | c.3717dup (p.Leu1240ThrfsTer3) c.3348dup (p.Leu1117ThrfsTer3) n.3717dup | |
| 13 | g.32338072del | CA018654 | BRCA2 | c.3717del (p.Lys1239AsnfsTer20) c.3348del (p.Lys1116AsnfsTer20) n.3717del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338071_32338072del | CA2499222144 | BRCA2 | c.3716_3717del (p.Lys1239ThrfsTer3) c.3347_3348del (p.Lys1116ThrfsTer3) n.3716_3717del | ClinVar dbSNP |
| 13 | g.32338071A>C | CA387778076 | BRCA2 | c.3716A>C (p.Lys1239Thr) c.3347A>C (p.Lys1116Thr) n.3716A>C | dbSNP |
| 13 | g.32338071A>G | CA387778078 | BRCA2 | c.3716A>G (p.Lys1239Arg) c.3347A>G (p.Lys1116Arg) n.3716A>G | dbSNP |
| 13 | g.32338071A>T | CA387778077 | BRCA2 | c.3716A>T (p.Lys1239Ile) c.3347A>T (p.Lys1116Ile) n.3716A>T | dbSNP gnomAD v4 |
| 13 | g.32338072A= | CA2082820053 | BRCA2 | c.3717A= (p.Lys1239=) c.3348A= (p.Lys1116=) n.3717A= | |
| 13 | g.32338072A>C | CA018650 | BRCA2 | c.3717A>C (p.Lys1239Asn) c.3348A>C (p.Lys1116Asn) n.3717A>C | ClinVar dbSNP |
| 13 | g.32338072A>G | CA6940720 | BRCA2 | c.3717A>G (p.Lys1239=) c.3348A>G (p.Lys1116=) n.3717A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338072A>T | CA387778079 | BRCA2 | c.3717A>T (p.Lys1239Asn) c.3348A>T (p.Lys1116Asn) n.3717A>T | dbSNP |
| 13 | g.32338073C>A | CA387778080 | BRCA2 | c.3718C>A (p.Leu1240Met) c.3349C>A (p.Leu1117Met) n.3718C>A | ClinVar dbSNP |
| 13 | g.32338073C>G | CA387778081 | BRCA2 | c.3718C>G (p.Leu1240Val) c.3349C>G (p.Leu1117Val) n.3718C>G | ClinVar dbSNP |
| 13 | g.32338073C>T | CA483437747 | BRCA2 | c.3718C>T (p.Leu1240=) c.3349C>T (p.Leu1117=) n.3718C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338073_32338075delinsCTG | CA2082820065 | BRCA2 | c.3718_3720delinsCTG (p.Leu1240=) c.3349_3351delinsCTG (p.Leu1117=) n.3718_3720delinsCTG | |
| 13 | g.32338073_32338077delinsCTGTT | CA2082820064 | BRCA2 | c.3718_3722delinsCTGTT (p.Leu1240=) c.3349_3353delinsCTGTT (p.Leu1117=) n.3718_3722delinsCTGTT | |
| 13 | g.32338074T>A | CA387778082 | BRCA2 | c.3719T>A (p.Leu1240Gln) c.3350T>A (p.Leu1117Gln) n.3719T>A | dbSNP |
| 13 | g.32338074T>C | CA387778083 | BRCA2 | c.3719T>C (p.Leu1240Pro) c.3350T>C (p.Leu1117Pro) n.3719T>C | ClinVar dbSNP |
| 13 | g.32338074T>G | CA387778084 | BRCA2 | c.3719T>G (p.Leu1240Arg) c.3350T>G (p.Leu1117Arg) n.3719T>G | |
| 13 | g.32338074T= | CA2082820097 | BRCA2 | c.3719T= (p.Leu1240=) c.3350T= (p.Leu1117=) n.3719T= | |
| 13 | g.32338074dup | CA2573149331 | BRCA2 | c.3719dup (p.Phe1241ValfsTer2) c.3350dup (p.Phe1118ValfsTer2) n.3719dup | ClinVar dbSNP |
| 13 | g.32338074_32338075delinsAC | CA915948456 | BRCA2 | c.3719_3720delinsAC (p.Leu1240His) c.3350_3351delinsAC (p.Leu1117His) n.3719_3720delinsAC | ClinVar dbSNP |
| 13 | g.32338074_32338075delinsTG | CA2082820080 | BRCA2 | c.3719_3720delinsTG (p.Leu1240=) c.3350_3351delinsTG (p.Leu1117=) n.3719_3720delinsTG | |
| 13 | g.32338075_32338076del | CA645509344 | BRCA2 | c.3720_3721del (p.Phe1241Ter) c.3351_3352del (p.Phe1118Ter) n.3720_3721del | ClinVar dbSNP |
| 13 | g.32338075_32338078del | CA10586514 | BRCA2 | c.3720_3723del (p.Phe1241ValfsTer17) c.3351_3354del (p.Phe1118ValfsTer17) n.3720_3723del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338075G>A | CA6940721 | BRCA2 | c.3720G>A (p.Leu1240=) c.3351G>A (p.Leu1117=) n.3720G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338075G>C | CA483437748 | BRCA2 | c.3720G>C (p.Leu1240=) c.3351G>C (p.Leu1117=) n.3720G>C | |
| 13 | g.32338075G= | CA2082820116 | BRCA2 | c.3720G= (p.Leu1240=) c.3351G= (p.Leu1117=) n.3720G= | |
| 13 | g.32338075G>T | CA483437750 | BRCA2 | c.3720G>T (p.Leu1240=) c.3351G>T (p.Leu1117=) n.3720G>T | |
| 13 | g.32338075_32338076delinsGT | CA2082820118 | BRCA2 | c.3720_3721delinsGT (p.Leu1240=) c.3351_3352delinsGT (p.Leu1117=) n.3720_3721delinsGT | |
| 13 | g.32338075_32338076insAGA | CA2622600769 | BRCA2 | c.3720_3721insAGA (p.Leu1240_Phe1241insArg) c.3351_3352insAGA (p.Leu1117_Phe1118insArg) n.3720_3721insAGA | gnomAD v4 |
| 13 | g.32338076T>A | CA387778086 | BRCA2 | c.3721T>A (p.Phe1241Ile) c.3352T>A (p.Phe1118Ile) n.3721T>A | dbSNP |
| 13 | g.32338076T>C | CA387778085 | BRCA2 | c.3721T>C (p.Phe1241Leu) c.3352T>C (p.Phe1118Leu) n.3721T>C | ClinVar dbSNP |
| 13 | g.32338076T>G | CA387778087 | BRCA2 | c.3721T>G (p.Phe1241Val) c.3352T>G (p.Phe1118Val) n.3721T>G | ClinVar |
| 13 | g.32338078del | CA10589217 | BRCA2 | c.3723del (p.Phe1241LeufsTer18) c.3354del (p.Phe1118LeufsTer18) n.3723del | ClinVar dbSNP |
| 13 | g.32338076_32338077insCACAATAGTGATCTTGAGAATA | CA2622600770 | BRCA2 | c.3721_3722insCACAATAGTGATCTTGAGAATA (p.Phe1241SerfsTer3) c.3352_3353insCACAATAGTGATCTTGAGAATA (p.Phe1118SerfsTer3) n.3721_3722insCACAATAGTGATCTTGAGAATA | gnomAD v4 |
| 13 | g.32338077T>A | CA387778088 | BRCA2 | c.3722T>A (p.Phe1241Tyr) c.3353T>A (p.Phe1118Tyr) n.3722T>A | dbSNP |
| 13 | g.32338077T>C | CA387778089 | BRCA2 | c.3722T>C (p.Phe1241Ser) c.3353T>C (p.Phe1118Ser) n.3722T>C | ClinVar |
| 13 | g.32338077T>G | CA387778090 | BRCA2 | c.3722T>G (p.Phe1241Cys) c.3353T>G (p.Phe1118Cys) n.3722T>G | dbSNP |
| 13 | g.32338077_32338080delinsTTAG | CA2082820130 | BRCA2 | c.3722_3725delinsTTAG (p.Phe1241=) c.3353_3356delinsTTAG (p.Phe1118=) n.3722_3725delinsTTAG | |
| 13 | g.32338078T>A | CA387778091 | BRCA2 | c.3723T>A (p.Phe1241Leu) c.3354T>A (p.Phe1118Leu) n.3723T>A | dbSNP |
| 13 | g.32338078T>C | CA483437754 | BRCA2 | c.3723T>C (p.Phe1241=) c.3354T>C (p.Phe1118=) n.3723T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338078T>G | CA018663 | BRCA2 | c.3723T>G (p.Phe1241Leu) c.3354T>G (p.Phe1118Leu) n.3723T>G | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32338078T= | CA2082820139 | BRCA2 | c.3723T= (p.Phe1241=) c.3354T= (p.Phe1118=) n.3723T= | |
| 13 | g.32338078_32338080delinsAT | CA018658 | BRCA2 | c.3723_3725delinsAT (p.Phe1241LeufsTer18) c.3354_3356delinsAT (p.Phe1118LeufsTer18) n.3723_3725delinsAT | ClinVar dbSNP |
| 13 | g.32338079A>C | CA387778094 | BRCA2 | c.3724A>C (p.Ser1242Arg) c.3355A>C (p.Ser1119Arg) n.3724A>C | gnomAD v4 |
| 13 | g.32338079A>G | CA387778092 | BRCA2 | c.3724A>G (p.Ser1242Gly) c.3355A>G (p.Ser1119Gly) n.3724A>G | |
| 13 | g.32338079A>T | CA387778093 | BRCA2 | c.3724A>T (p.Ser1242Cys) c.3355A>T (p.Ser1119Cys) n.3724A>T | dbSNP |
| 13 | g.32338079dup | CA10589218 | BRCA2 | c.3724dup (p.Ser1242LysfsTer2) c.3355dup (p.Ser1119LysfsTer2) n.3724dup | ClinVar dbSNP |
| 13 | g.32338080G>A | CA387778095 | BRCA2 | c.3725G>A (p.Ser1242Asn) c.3356G>A (p.Ser1119Asn) n.3725G>A | ClinVar dbSNP |
| 13 | g.32338080G>C | CA387778096 | BRCA2 | c.3725G>C (p.Ser1242Thr) c.3356G>C (p.Ser1119Thr) n.3725G>C | ClinVar dbSNP |
| 13 | g.32338080G= | CA2082820159 | BRCA2 | c.3725G= (p.Ser1242=) c.3356G= (p.Ser1119=) n.3725G= | |
| 13 | g.32338080G>T | CA387778097 | BRCA2 | c.3725G>T (p.Ser1242Ile) c.3356G>T (p.Ser1119Ile) n.3725G>T | dbSNP |
| 13 | g.32338081T>A | CA387778098 | BRCA2 | c.3726T>A (p.Ser1242Arg) c.3357T>A (p.Ser1119Arg) n.3726T>A | dbSNP |
| 13 | g.32338081T>C | CA483437758 | BRCA2 | c.3726T>C (p.Ser1242=) c.3357T>C (p.Ser1119=) n.3726T>C | ClinVar |
| 13 | g.32338081T>G | CA387778099 | BRCA2 | c.3726T>G (p.Ser1242Arg) c.3357T>G (p.Ser1119Arg) n.3726T>G | dbSNP |
| 13 | g.32338081T= | CA2082820165 | BRCA2 | c.3726T= (p.Ser1242=) c.3357T= (p.Ser1119=) n.3726T= | |
| 13 | g.32338082G>A | CA018666 | BRCA2 | c.3727G>A (p.Asp1243Asn) c.3358G>A (p.Asp1120Asn) n.3727G>A | ClinVar dbSNP |
| 13 | g.32338082G>C | CA387778101 | BRCA2 | c.3727G>C (p.Asp1243His) c.3358G>C (p.Asp1120His) n.3727G>C | dbSNP |
| 13 | g.32338082G= | CA2082820169 | BRCA2 | c.3727G= (p.Asp1243=) c.3358G= (p.Asp1120=) n.3727G= | |
| 13 | g.32338082G>T | CA387778100 | BRCA2 | c.3727G>T (p.Asp1243Tyr) c.3358G>T (p.Asp1120Tyr) n.3727G>T | dbSNP |
| 13 | g.32338083A>C | CA387778102 | BRCA2 | c.3728A>C (p.Asp1243Ala) c.3359A>C (p.Asp1120Ala) n.3728A>C | ClinVar |
| 13 | g.32338083A>G | CA387778103 | BRCA2 | c.3728A>G (p.Asp1243Gly) c.3359A>G (p.Asp1120Gly) n.3728A>G | dbSNP |
| 13 | g.32338083A>T | CA387778104 | BRCA2 | c.3728A>T (p.Asp1243Val) c.3359A>T (p.Asp1120Val) n.3728A>T | dbSNP |
| 13 | g.32338083dup | CA10589219 | BRCA2 | c.3728dup (p.Asp1243GlufsTer3) c.3359dup (p.Asp1120GlufsTer3) n.3728dup | ClinVar dbSNP |
| 13 | g.32338083_32338087delinsATATT | CA2082820176 | BRCA2 | c.3728_3732delinsATATT (p.Asp1243=) c.3359_3363delinsATATT (p.Asp1120=) n.3728_3732delinsATATT | |
| 13 | g.32338084T>A | CA387778105 | BRCA2 | c.3729T>A (p.Asp1243Glu) c.3360T>A (p.Asp1120Glu) n.3729T>A | dbSNP |
| 13 | g.32338084T>C | CA483437761 | BRCA2 | c.3729T>C (p.Asp1243=) c.3360T>C (p.Asp1120=) n.3729T>C | dbSNP |
| 13 | g.32338084T>G | CA387778106 | BRCA2 | c.3729T>G (p.Asp1243Glu) c.3360T>G (p.Asp1120Glu) n.3729T>G | dbSNP |
| 13 | g.32338084_32338087del | CA1139663162 | BRCA2 | c.3729_3732del (p.Asp1243GlufsTer15) c.3360_3363del (p.Asp1120GlufsTer15) n.3729_3732del | ClinVar dbSNP |
| 13 | g.32338084_32338089delinsTATTGA | CA2082820186 | BRCA2 | c.3729_3734delinsTATTGA (p.Asp1243=) c.3360_3365delinsTATTGA (p.Asp1120=) n.3729_3734delinsTATTGA | |
| 13 | g.32338085A= | CA2082820194 | BRCA2 | c.3730A= (p.Ile1244=) c.3361A= (p.Ile1121=) n.3730A= | |
| 13 | g.32338085A>C | CA387778107 | BRCA2 | c.3730A>C (p.Ile1244Leu) c.3361A>C (p.Ile1121Leu) n.3730A>C | |
| 13 | g.32338085A>G | CA018673 | BRCA2 | c.3730A>G (p.Ile1244Val) c.3361A>G (p.Ile1121Val) n.3730A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338085A>T | CA387778108 | BRCA2 | c.3730A>T (p.Ile1244Phe) c.3361A>T (p.Ile1121Phe) n.3730A>T | dbSNP |
| 13 | g.32338086T>A | CA387778109 | BRCA2 | c.3731T>A (p.Ile1244Asn) c.3362T>A (p.Ile1121Asn) n.3731T>A | dbSNP |
| 13 | g.32338086T>C | CA018674 | BRCA2 | c.3731T>C (p.Ile1244Thr) c.3362T>C (p.Ile1121Thr) n.3731T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338086T>G | CA387778110 | BRCA2 | c.3731T>G (p.Ile1244Ser) c.3362T>G (p.Ile1121Ser) n.3731T>G | |
| 13 | g.32338086T= | CA2082820200 | BRCA2 | c.3731T= (p.Ile1244=) c.3362T= (p.Ile1121=) n.3731T= | |
| 13 | g.32338087T>A | CA483437764 | BRCA2 | c.3732T>A (p.Ile1244=) c.3363T>A (p.Ile1121=) n.3732T>A | dbSNP |
| 13 | g.32338087T>C | CA483437765 | BRCA2 | c.3732T>C (p.Ile1244=) c.3363T>C (p.Ile1121=) n.3732T>C | ClinVar |
| 13 | g.32338087T>G | CA387778111 | BRCA2 | c.3732T>G (p.Ile1244Met) c.3363T>G (p.Ile1121Met) n.3732T>G | gnomAD v4 |
| 13 | g.32338088G>A | CA387778112 | BRCA2 | c.3733G>A (p.Glu1245Lys) c.3364G>A (p.Glu1122Lys) n.3733G>A | ClinVar dbSNP |
| 13 | g.32338088G>C | CA387778116 | BRCA2 | c.3733G>C (p.Glu1245Gln) c.3364G>C (p.Glu1122Gln) n.3733G>C | dbSNP |
| 13 | g.32338088G>T | CA387778114 | BRCA2 | c.3733G>T (p.Glu1245Ter) c.3364G>T (p.Glu1122Ter) n.3733G>T | |
| 13 | g.32338088_32338091del | CA2575387795 | BRCA2 | c.3733_3736del (p.Glu1245IlefsTer13) c.3364_3367del (p.Glu1122IlefsTer13) n.3733_3736del | |
| 13 | g.32338089A>C | CA387778117 | BRCA2 | c.3734A>C (p.Glu1245Ala) c.3365A>C (p.Glu1122Ala) n.3734A>C | |
| 13 | g.32338089A>G | CA387778119 | BRCA2 | c.3734A>G (p.Glu1245Gly) c.3365A>G (p.Glu1122Gly) n.3734A>G | |
| 13 | g.32338089A>T | CA387778120 | BRCA2 | c.3734A>T (p.Glu1245Val) c.3365A>T (p.Glu1122Val) n.3734A>T | |
| 13 | g.32338090G>A | CA10583094 | BRCA2 | c.3735G>A (p.Glu1245=) c.3366G>A (p.Glu1122=) n.3735G>A | ClinVar dbSNP |
| 13 | g.32338090G>C | CA387778122 | BRCA2 | c.3735G>C (p.Glu1245Asp) c.3366G>C (p.Glu1122Asp) n.3735G>C | dbSNP |
| 13 | g.32338090G= | CA2082820227 | BRCA2 | c.3735G= (p.Glu1245=) c.3366G= (p.Glu1122=) n.3735G= | |
| 13 | g.32338090G>T | CA387778123 | BRCA2 | c.3735G>T (p.Glu1245Asp) c.3366G>T (p.Glu1122Asp) n.3735G>T | |
| 13 | g.32338090_32338091delinsGA | CA2082820209 | BRCA2 | c.3735_3736delinsGA (p.Glu1245=) c.3366_3367delinsGA (p.Glu1122=) n.3735_3736delinsGA | |
| 13 | g.32338091A>C | CA387778125 | BRCA2 | c.3736A>C (p.Asn1246His) c.3367A>C (p.Asn1123His) n.3736A>C | |
| 13 | g.32338091A>G | CA387778127 | BRCA2 | c.3736A>G (p.Asn1246Asp) c.3367A>G (p.Asn1123Asp) n.3736A>G | dbSNP |
| 13 | g.32338091A>T | CA387778129 | BRCA2 | c.3736A>T (p.Asn1246Tyr) c.3367A>T (p.Asn1123Tyr) n.3736A>T | dbSNP |
| 13 | g.32338092del | CA018679 | BRCA2 | c.3737del (p.Asn1246IlefsTer13) c.3368del (p.Asn1123IlefsTer13) n.3737del | ClinVar dbSNP |
| 13 | g.32338092A= | CA2082820261 | BRCA2 | c.3737A= (p.Asn1246=) c.3368A= (p.Asn1123=) n.3737A= | |
| 13 | g.32338092A>C | CA387778131 | BRCA2 | c.3737A>C (p.Asn1246Thr) c.3368A>C (p.Asn1123Thr) n.3737A>C | ClinVar dbSNP |
| 13 | g.32338092A>G | CA387778132 | BRCA2 | c.3737A>G (p.Asn1246Ser) c.3368A>G (p.Asn1123Ser) n.3737A>G | ClinVar dbSNP |
| 13 | g.32338092A>T | CA10579587 | BRCA2 | c.3737A>T (p.Asn1246Ile) c.3368A>T (p.Asn1123Ile) n.3737A>T | ClinVar dbSNP |
| 13 | g.32338092_32338096delinsATATT | CA2082820250 | BRCA2 | c.3737_3741delinsATATT (p.Asn1246=) c.3368_3372delinsATATT (p.Asn1123=) n.3737_3741delinsATATT | |
| 13 | g.32338093T>A | CA387778137 | BRCA2 | c.3738T>A (p.Asn1246Lys) c.3369T>A (p.Asn1123Lys) n.3738T>A | dbSNP |
| 13 | g.32338093T>C | CA483437769 | BRCA2 | c.3738T>C (p.Asn1246=) c.3369T>C (p.Asn1123=) n.3738T>C | COSMIC COSMIC |
| 13 | g.32338093T>G | CA387778135 | BRCA2 | c.3738T>G (p.Asn1246Lys) c.3369T>G (p.Asn1123Lys) n.3738T>G | |
| 13 | g.32338093_32338094delinsTA | CA2082820276 | BRCA2 | c.3738_3739delinsTA (p.Asn1246=) c.3369_3370delinsTA (p.Asn1123=) n.3738_3739delinsTA | |
| 13 | g.32338093_32338096del | CA658683869 | BRCA2 | c.3738_3741del (p.Asn1246LysfsTer12) c.3369_3372del (p.Asn1123LysfsTer12) n.3738_3741del | ClinVar dbSNP |
| 13 | g.32338094del | CA10589220 | BRCA2 | c.3739del (p.Ile1247LeufsTer12) c.3370del (p.Ile1124LeufsTer12) n.3739del | ClinVar dbSNP |
| 13 | g.32338094A= | CA2082820289 | BRCA2 | c.3739A= (p.Ile1247=) c.3370A= (p.Ile1124=) n.3739A= | |
| 13 | g.32338094A>C | CA387778139 | BRCA2 | c.3739A>C (p.Ile1247Leu) c.3370A>C (p.Ile1124Leu) n.3739A>C | |
| 13 | g.32338094A>G | CA387778141 | BRCA2 | c.3739A>G (p.Ile1247Val) c.3370A>G (p.Ile1124Val) n.3739A>G | ClinVar dbSNP |
| 13 | g.32338094A>T | CA387778142 | BRCA2 | c.3739A>T (p.Ile1247Phe) c.3370A>T (p.Ile1124Phe) n.3739A>T | |
| 13 | g.32338094_32338095delinsAT | CA2082820288 | BRCA2 | c.3739_3740delinsAT (p.Ile1247=) c.3370_3371delinsAT (p.Ile1124=) n.3739_3740delinsAT | |
| 13 | g.32338095T>A | CA387778145 | BRCA2 | c.3740T>A (p.Ile1247Asn) c.3371T>A (p.Ile1124Asn) n.3740T>A | dbSNP |
| 13 | g.32338095T>C | CA387778146 | BRCA2 | c.3740T>C (p.Ile1247Thr) c.3371T>C (p.Ile1124Thr) n.3740T>C | gnomAD v4 |
| 13 | g.32338095T>G | CA387778148 | BRCA2 | c.3740T>G (p.Ile1247Ser) c.3371T>G (p.Ile1124Ser) n.3740T>G | |
| 13 | g.32338096del | CA10589221 | BRCA2 | c.3741del (p.Ser1248ValfsTer11) c.3372del (p.Ser1125ValfsTer11) n.3741del | ClinVar dbSNP |
| 13 | g.32338096T>A | CA483437771 | BRCA2 | c.3741T>A (p.Ile1247=) c.3372T>A (p.Ile1124=) n.3741T>A | |
| 13 | g.32338096T>C | CA483437772 | BRCA2 | c.3741T>C (p.Ile1247=) c.3372T>C (p.Ile1124=) n.3741T>C | ClinVar dbSNP |
| 13 | g.32338096T>G | CA387778150 | BRCA2 | c.3741T>G (p.Ile1247Met) c.3372T>G (p.Ile1124Met) n.3741T>G | |
| 13 | g.32338096_32338100delinsTAGTG | CA2082820294 | BRCA2 | c.3741_3745delinsTAGTG (p.Ile1247=) c.3372_3376delinsTAGTG (p.Ile1124=) n.3741_3745delinsTAGTG | |
| 13 | g.32338097del | CA2739277536 | BRCA2 | c.3742del (p.Ser1248ValfsTer11) c.3373del (p.Ser1125ValfsTer11) n.3742del | ClinVar |
| 13 | g.32338097A= | CA2082820307 | BRCA2 | c.3742A= (p.Ser1248=) c.3373A= (p.Ser1125=) n.3742A= | |
| 13 | g.32338097A>C | CA018688 | BRCA2 | c.3742A>C (p.Ser1248Arg) c.3373A>C (p.Ser1125Arg) n.3742A>C | ClinVar dbSNP |
| 13 | g.32338097A>G | CA387778151 | BRCA2 | c.3742A>G (p.Ser1248Gly) c.3373A>G (p.Ser1125Gly) n.3742A>G | |
| 13 | g.32338097A>T | CA387778153 | BRCA2 | c.3742A>T (p.Ser1248Cys) c.3373A>T (p.Ser1125Cys) n.3742A>T | |
| 13 | g.32338099_32338102del | CA018693 | BRCA2 | c.3744_3747del (p.Ser1248ArgfsTer10) c.3375_3378del (p.Ser1125ArgfsTer10) n.3744_3747del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338098G>A | CA387778157 | BRCA2 | c.3743G>A (p.Ser1248Asn) c.3374G>A (p.Ser1125Asn) n.3743G>A | ClinVar dbSNP |
| 13 | g.32338098G>C | CA387778155 | BRCA2 | c.3743G>C (p.Ser1248Thr) c.3374G>C (p.Ser1125Thr) n.3743G>C | dbSNP |
| 13 | g.32338098G= | CA2082820313 | BRCA2 | c.3743G= (p.Ser1248=) c.3374G= (p.Ser1125=) n.3743G= | |
| 13 | g.32338098G>T | CA387778156 | BRCA2 | c.3743G>T (p.Ser1248Ile) c.3374G>T (p.Ser1125Ile) n.3743G>T | ClinVar dbSNP |
| 13 | g.32338099T>A | CA387778159 | BRCA2 | c.3744T>A (p.Ser1248Arg) c.3375T>A (p.Ser1125Arg) n.3744T>A | ClinVar |
| 13 | g.32338099T>C | CA483437774 | BRCA2 | c.3744T>C (p.Ser1248=) c.3375T>C (p.Ser1125=) n.3744T>C | ClinVar dbSNP |
| 13 | g.32338099T>G | CA387778160 | BRCA2 | c.3744T>G (p.Ser1248Arg) c.3375T>G (p.Ser1125Arg) n.3744T>G | |
| 13 | g.32338099T= | CA2082820317 | BRCA2 | c.3744T= (p.Ser1248=) c.3375T= (p.Ser1125=) n.3744T= | |
| 13 | g.32338100G>A | CA387778162 | BRCA2 | c.3745G>A (p.Glu1249Lys) c.3376G>A (p.Glu1126Lys) n.3745G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338100G>C | CA387778164 | BRCA2 | c.3745G>C (p.Glu1249Gln) c.3376G>C (p.Glu1126Gln) n.3745G>C | dbSNP |
| 13 | g.32338100G= | CA2082820320 | BRCA2 | c.3745G= (p.Glu1249=) c.3376G= (p.Glu1126=) n.3745G= | |
| 13 | g.32338100G>T | CA387778165 | BRCA2 | c.3745G>T (p.Glu1249Ter) c.3376G>T (p.Glu1126Ter) n.3745G>T | |
| 13 | g.32338101A>C | CA387778167 | BRCA2 | c.3746A>C (p.Glu1249Ala) c.3377A>C (p.Glu1126Ala) n.3746A>C | |
| 13 | g.32338101A>G | CA387778168 | BRCA2 | c.3746A>G (p.Glu1249Gly) c.3377A>G (p.Glu1126Gly) n.3746A>G | dbSNP |
| 13 | g.32338101A>T | CA387778169 | BRCA2 | c.3746A>T (p.Glu1249Val) c.3377A>T (p.Glu1126Val) n.3746A>T | dbSNP |
| 13 | g.32338102G>A | CA483437777 | BRCA2 | c.3747G>A (p.Glu1249=) c.3378G>A (p.Glu1126=) n.3747G>A | ClinVar dbSNP |
| 13 | g.32338102G>C | CA387778171 | BRCA2 | c.3747G>C (p.Glu1249Asp) c.3378G>C (p.Glu1126Asp) n.3747G>C | dbSNP |
| 13 | g.32338102G>T | CA387778172 | BRCA2 | c.3747G>T (p.Glu1249Asp) c.3378G>T (p.Glu1126Asp) n.3747G>T | dbSNP |
| 13 | g.32338103del | CA2695199705 | BRCA2 | c.3748del (p.Glu1250LysfsTer9) c.3379del (p.Glu1127LysfsTer9) n.3748del | ClinVar |
| 13 | g.32338102_32338103insA | CA2695218193 | BRCA2 | c.3747_3748insA (p.Glu1250ArgfsTer15) c.3378_3379insA (p.Glu1127ArgfsTer15) n.3747_3748insA | |
| 13 | g.32338103G>A | CA10579588 | BRCA2 | c.3748G>A (p.Glu1250Lys) c.3379G>A (p.Glu1127Lys) n.3748G>A | ClinVar dbSNP |
| 13 | g.32338103G>C | CA387778175 | BRCA2 | c.3748G>C (p.Glu1250Gln) c.3379G>C (p.Glu1127Gln) n.3748G>C | dbSNP |
| 13 | g.32338103G= | CA2082820378 | BRCA2 | c.3748G= (p.Glu1250=) c.3379G= (p.Glu1127=) n.3748G= | |
| 13 | g.32338103G>T | CA018710 | BRCA2 | c.3748G>T (p.Glu1250Ter) c.3379G>T (p.Glu1127Ter) n.3748G>T | ClinVar dbSNP |
| 13 | g.32338104A= | CA2082820393 | BRCA2 | c.3749A= (p.Glu1250=) c.3380A= (p.Glu1127=) n.3749A= | |
| 13 | g.32338104A>C | CA387778177 | BRCA2 | c.3749A>C (p.Glu1250Ala) c.3380A>C (p.Glu1127Ala) n.3749A>C | |
| 13 | g.32338104A>G | CA018716 | BRCA2 | c.3749A>G (p.Glu1250Gly) c.3380A>G (p.Glu1127Gly) n.3749A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338104A>T | CA387778179 | BRCA2 | c.3749A>T (p.Glu1250Val) c.3380A>T (p.Glu1127Val) n.3749A>T | ClinVar dbSNP |
| 13 | g.32338106dup | CA018719 | BRCA2 | c.3751dup (p.Thr1251AsnfsTer14) c.3382dup (p.Thr1128AsnfsTer14) n.3751dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338105A>C | CA387778180 | BRCA2 | c.3750A>C (p.Glu1250Asp) c.3381A>C (p.Glu1127Asp) n.3750A>C | dbSNP |
| 13 | g.32338105A>G | CA483437778 | BRCA2 | c.3750A>G (p.Glu1250=) c.3381A>G (p.Glu1127=) n.3750A>G | dbSNP |
| 13 | g.32338105A>T | CA387778181 | BRCA2 | c.3750A>T (p.Glu1250Asp) c.3381A>T (p.Glu1127Asp) n.3750A>T | dbSNP |
| 13 | g.32338106A>C | CA387778183 | BRCA2 | c.3751A>C (p.Thr1251Pro) c.3382A>C (p.Thr1128Pro) n.3751A>C | ClinVar |
| 13 | g.32338106A>G | CA387778186 | BRCA2 | c.3751A>G (p.Thr1251Ala) c.3382A>G (p.Thr1128Ala) n.3751A>G | dbSNP |
| 13 | g.32338106A>T | CA387778184 | BRCA2 | c.3751A>T (p.Thr1251Ser) c.3382A>T (p.Thr1128Ser) n.3751A>T | ClinVar dbSNP |
| 13 | g.32338107C>A | CA387778188 | BRCA2 | c.3752C>A (p.Thr1251Asn) c.3383C>A (p.Thr1128Asn) n.3752C>A | ClinVar dbSNP |
| 13 | g.32338107C= | CA2082820400 | BRCA2 | c.3752C= (p.Thr1251=) c.3383C= (p.Thr1128=) n.3752C= | |
| 13 | g.32338107C>G | CA387778189 | BRCA2 | c.3752C>G (p.Thr1251Ser) c.3383C>G (p.Thr1128Ser) n.3752C>G | dbSNP |
| 13 | g.32338107C>T | CA387778191 | BRCA2 | c.3752C>T (p.Thr1251Ile) c.3383C>T (p.Thr1128Ile) n.3752C>T | ClinVar dbSNP |
| 13 | g.32338107_32338108delinsCT | CA2082820402 | BRCA2 | c.3752_3753delinsCT (p.Thr1251=) c.3383_3384delinsCT (p.Thr1128=) n.3752_3753delinsCT | |
| 13 | g.32338108T>A | CA483437783 | BRCA2 | c.3753T>A (p.Thr1251=) c.3384T>A (p.Thr1128=) n.3753T>A | dbSNP |
| 13 | g.32338108T>C | CA483437784 | BRCA2 | c.3753T>C (p.Thr1251=) c.3384T>C (p.Thr1128=) n.3753T>C | ClinVar dbSNP |
| 13 | g.32338108T>G | CA483437785 | BRCA2 | c.3753T>G (p.Thr1251=) c.3384T>G (p.Thr1128=) n.3753T>G | |
| 13 | g.32338109del | CA1139663165 | BRCA2 | c.3754del (p.Ser1252LeufsTer7) c.3385del (p.Ser1129LeufsTer7) n.3754del | ClinVar dbSNP |
| 13 | g.32338109T>A | CA387778193 | BRCA2 | c.3754T>A (p.Ser1252Thr) c.3385T>A (p.Ser1129Thr) n.3754T>A | |
| 13 | g.32338109T>C | CA387778195 | BRCA2 | c.3754T>C (p.Ser1252Pro) c.3385T>C (p.Ser1129Pro) n.3754T>C | |
| 13 | g.32338109T>G | CA387778196 | BRCA2 | c.3754T>G (p.Ser1252Ala) c.3385T>G (p.Ser1129Ala) n.3754T>G | |
| 13 | g.32338110C>A | CA387778198 | BRCA2 | c.3755C>A (p.Ser1252Tyr) c.3386C>A (p.Ser1129Tyr) n.3755C>A | ClinVar dbSNP |
| 13 | g.32338110C= | CA2082820423 | BRCA2 | c.3755C= (p.Ser1252=) c.3386C= (p.Ser1129=) n.3755C= | |
| 13 | g.32338110C>G | CA387778200 | BRCA2 | c.3755C>G (p.Ser1252Cys) c.3386C>G (p.Ser1129Cys) n.3755C>G | dbSNP |
| 13 | g.32338110C>T | CA387778201 | BRCA2 | c.3755C>T (p.Ser1252Phe) c.3386C>T (p.Ser1129Phe) n.3755C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338111T>A | CA483437787 | BRCA2 | c.3756T>A (p.Ser1252=) c.3387T>A (p.Ser1129=) n.3756T>A | dbSNP |
| 13 | g.32338111T>C | CA483437788 | BRCA2 | c.3756T>C (p.Ser1252=) c.3387T>C (p.Ser1129=) n.3756T>C | gnomAD v4 |
| 13 | g.32338111T>G | CA483437789 | BRCA2 | c.3756T>G (p.Ser1252=) c.3387T>G (p.Ser1129=) n.3756T>G | |
| 13 | g.32338112G>A | CA387778202 | BRCA2 | c.3757G>A (p.Ala1253Thr) c.3388G>A (p.Ala1130Thr) n.3757G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338112G>C | CA387778205 | BRCA2 | c.3757G>C (p.Ala1253Pro) c.3388G>C (p.Ala1130Pro) n.3757G>C | dbSNP |
| 13 | g.32338112G= | CA2082820430 | BRCA2 | c.3757G= (p.Ala1253=) c.3388G= (p.Ala1130=) n.3757G= | |
| 13 | g.32338112G>T | CA387778206 | BRCA2 | c.3757G>T (p.Ala1253Ser) c.3388G>T (p.Ala1130Ser) n.3757G>T | ClinVar dbSNP |
| 13 | g.32338113C>A | CA387778208 | BRCA2 | c.3758C>A (p.Ala1253Glu) c.3389C>A (p.Ala1130Glu) n.3758C>A | dbSNP |
| 13 | g.32338113C= | CA2082820447 | BRCA2 | c.3758C= (p.Ala1253=) c.3389C= (p.Ala1130=) n.3758C= | |
| 13 | g.32338113C>G | CA387778210 | BRCA2 | c.3758C>G (p.Ala1253Gly) c.3389C>G (p.Ala1130Gly) n.3758C>G | dbSNP gnomAD v4 |
| 13 | g.32338113C>T | CA018726 | BRCA2 | c.3758C>T (p.Ala1253Val) c.3389C>T (p.Ala1130Val) n.3758C>T | ClinVar dbSNP |
| 13 | g.32338114A>C | CA483437793 | BRCA2 | c.3759A>C (p.Ala1253=) c.3390A>C (p.Ala1130=) n.3759A>C | |
| 13 | g.32338114A>G | CA483437795 | BRCA2 | c.3759A>G (p.Ala1253=) c.3390A>G (p.Ala1130=) n.3759A>G | ClinVar |
| 13 | g.32338114A>T | CA483437797 | BRCA2 | c.3759A>T (p.Ala1253=) c.3390A>T (p.Ala1130=) n.3759A>T | dbSNP |
| 13 | g.32338116_32338117del | CA1139770411 | BRCA2 | c.3761_3762del (p.Glu1254GlyfsTer10) c.3392_3393del (p.Glu1131GlyfsTer10) n.3761_3762del | |
| 13 | g.32338115G>A | CA6940722 | BRCA2 | c.3760G>A (p.Glu1254Lys) c.3391G>A (p.Glu1131Lys) n.3760G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338115G>C | CA387778213 | BRCA2 | c.3760G>C (p.Glu1254Gln) c.3391G>C (p.Glu1131Gln) n.3760G>C | dbSNP |
| 13 | g.32338115G= | CA2082820453 | BRCA2 | c.3760G= (p.Glu1254=) c.3391G= (p.Glu1131=) n.3760G= | |
| 13 | g.32338115G>T | CA387778214 | BRCA2 | c.3760G>T (p.Glu1254Ter) c.3391G>T (p.Glu1131Ter) n.3760G>T | |
| 13 | g.32338115_32338119delinsGAGGT | CA2082820457 | BRCA2 | c.3760_3764delinsGAGGT (p.Glu1254=) c.3391_3395delinsGAGGT (p.Glu1131=) n.3760_3764delinsGAGGT | |
| 13 | g.32338116A>C | CA387778215 | BRCA2 | c.3761A>C (p.Glu1254Ala) c.3392A>C (p.Glu1131Ala) n.3761A>C | |
| 13 | g.32338116A>G | CA387778217 | BRCA2 | c.3761A>G (p.Glu1254Gly) c.3392A>G (p.Glu1131Gly) n.3761A>G | dbSNP |
| 13 | g.32338116A>T | CA387778218 | BRCA2 | c.3761A>T (p.Glu1254Val) c.3392A>T (p.Glu1131Val) n.3761A>T | |
| 13 | g.32338116_32338119delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA | CA658683870 | BRCA2 | c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1254ValfsTer19) c.3392_3395delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1131ValfsTer19) n.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA | ClinVar dbSNP |
| 13 | g.32338117G>A | CA018737 | BRCA2 | c.3762G>A (p.Glu1254=) c.3393G>A (p.Glu1131=) n.3762G>A | ClinVar dbSNP |
| 13 | g.32338117G>C | CA387778220 | BRCA2 | c.3762G>C (p.Glu1254Asp) c.3393G>C (p.Glu1131Asp) n.3762G>C | dbSNP |
| 13 | g.32338117G= | CA2082820473 | BRCA2 | c.3762G= (p.Glu1254=) c.3393G= (p.Glu1131=) n.3762G= | |
| 13 | g.32338117G>T | CA6940723 | BRCA2 | c.3762G>T (p.Glu1254Asp) c.3393G>T (p.Glu1131Asp) n.3762G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338118G>A | CA387778224 | BRCA2 | c.3763G>A (p.Val1255Ile) c.3394G>A (p.Val1132Ile) n.3763G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32338118G>C | CA387778225 | BRCA2 | c.3763G>C (p.Val1255Leu) c.3394G>C (p.Val1132Leu) n.3763G>C | dbSNP |
| 13 | g.32338118G= | CA2082820486 | BRCA2 | c.3763G= (p.Val1255=) c.3394G= (p.Val1132=) n.3763G= | |
| 13 | g.32338118G>T | CA018742 | BRCA2 | c.3763G>T (p.Val1255Leu) c.3394G>T (p.Val1132Leu) n.3763G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338119T>A | CA387778232 | BRCA2 | c.3764T>A (p.Val1255Glu) c.3395T>A (p.Val1132Glu) n.3764T>A | dbSNP |
| 13 | g.32338119T>C | CA387778230 | BRCA2 | c.3764T>C (p.Val1255Ala) c.3395T>C (p.Val1132Ala) n.3764T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338119T>G | CA387778229 | BRCA2 | c.3764T>G (p.Val1255Gly) c.3395T>G (p.Val1132Gly) n.3764T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338119T= | CA2082820496 | BRCA2 | c.3764T= (p.Val1255=) c.3395T= (p.Val1132=) n.3764T= | |
| 13 | g.32338120A= | CA2082820507 | BRCA2 | c.3765A= (p.Val1255=) c.3396A= (p.Val1132=) n.3765A= | |
| 13 | g.32338120A>C | CA483437900 | BRCA2 | c.3765A>C (p.Val1255=) c.3396A>C (p.Val1132=) n.3765A>C | |
| 13 | g.32338120A>G | CA247505836 | BRCA2 | c.3765A>G (p.Val1255=) c.3396A>G (p.Val1132=) n.3765A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338120A>T | CA16613871 | BRCA2 | c.3765A>T (p.Val1255=) c.3396A>T (p.Val1132=) n.3765A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338121C>A | CA387778237 | BRCA2 | c.3766C>A (p.His1256Asn) c.3397C>A (p.His1133Asn) n.3766C>A | |
| 13 | g.32338121C>G | CA387778239 | BRCA2 | c.3766C>G (p.His1256Asp) c.3397C>G (p.His1133Asp) n.3766C>G | ClinVar dbSNP |
| 13 | g.32338121C>T | CA387778240 | BRCA2 | c.3766C>T (p.His1256Tyr) c.3397C>T (p.His1133Tyr) n.3766C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338121_32338122delinsCA | CA2082820514 | BRCA2 | c.3766_3767delinsCA (p.His1256=) c.3397_3398delinsCA (p.His1133=) n.3766_3767delinsCA | |
| 13 | g.32338122del | CA658823692 | BRCA2 | c.3767del (p.His1256LeufsTer3) c.3398del (p.His1133LeufsTer3) n.3767del | ClinVar dbSNP |
| 13 | g.32338122A= | CA2082820523 | BRCA2 | c.3767A= (p.His1256=) c.3398A= (p.His1133=) n.3767A= | |
| 13 | g.32338122A>C | CA018748 | BRCA2 | c.3767A>C (p.His1256Pro) c.3398A>C (p.His1133Pro) n.3767A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338122A>G | CA018755 | BRCA2 | c.3767A>G (p.His1256Arg) c.3398A>G (p.His1133Arg) n.3767A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338122A>T | CA387778245 | BRCA2 | c.3767A>T (p.His1256Leu) c.3398A>T (p.His1133Leu) n.3767A>T | |
| 13 | g.32338123T>A | CA387778247 | BRCA2 | c.3768T>A (p.His1256Gln) c.3399T>A (p.His1133Gln) n.3768T>A | ClinVar dbSNP |
| 13 | g.32338123T>C | CA483437904 | BRCA2 | c.3768T>C (p.His1256=) c.3399T>C (p.His1133=) n.3768T>C | dbSNP |
| 13 | g.32338123T>G | CA387778250 | BRCA2 | c.3768T>G (p.His1256Gln) c.3399T>G (p.His1133Gln) n.3768T>G | gnomAD v4 |
| 13 | g.32338123T= | CA2082820530 | BRCA2 | c.3768T= (p.His1256=) c.3399T= (p.His1133=) n.3768T= | |
| 13 | g.32338124C>A | CA16614137 | BRCA2 | c.3769C>A (p.Pro1257Thr) c.3400C>A (p.Pro1134Thr) n.3769C>A | ClinVar dbSNP |
| 13 | g.32338124C= | CA2082820546 | BRCA2 | c.3769C= (p.Pro1257=) c.3400C= (p.Pro1134=) n.3769C= | |
| 13 | g.32338124C>G | CA387778253 | BRCA2 | c.3769C>G (p.Pro1257Ala) c.3400C>G (p.Pro1134Ala) n.3769C>G | ClinVar dbSNP |
| 13 | g.32338124C>T | CA387778254 | BRCA2 | c.3769C>T (p.Pro1257Ser) c.3400C>T (p.Pro1134Ser) n.3769C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32338125C>A | CA387778259 | BRCA2 | c.3770C>A (p.Pro1257Gln) c.3401C>A (p.Pro1134Gln) n.3770C>A | dbSNP gnomAD v4 |
| 13 | g.32338125C= | CA2082820562 | BRCA2 | c.3770C= (p.Pro1257=) c.3401C= (p.Pro1134=) n.3770C= | |
| 13 | g.32338125C>G | CA387778265 | BRCA2 | c.3770C>G (p.Pro1257Arg) c.3401C>G (p.Pro1134Arg) n.3770C>G | dbSNP |
| 13 | g.32338125C>T | CA018762 | BRCA2 | c.3770C>T (p.Pro1257Leu) c.3401C>T (p.Pro1134Leu) n.3770C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338125_32338126delinsCA | CA2082820568 | BRCA2 | c.3770_3771delinsCA (p.Pro1257=) c.3401_3402delinsCA (p.Pro1134=) n.3770_3771delinsCA | |
| 13 | g.32338128_32338142del | CA2580087225 | BRCA2 | c.3773_3787del (p.Ile1258_Ser1262del) c.3404_3418del (p.Ile1135_Ser1139del) n.3773_3787del | ClinVar |
| 13 | g.32338126A= | CA2082820580 | BRCA2 | c.3771A= (p.Pro1257=) c.3402A= (p.Pro1134=) n.3771A= | |
| 13 | g.32338126A>C | CA483437908 | BRCA2 | c.3771A>C (p.Pro1257=) c.3402A>C (p.Pro1134=) n.3771A>C | dbSNP |
| 13 | g.32338126A>G | CA018767 | BRCA2 | c.3771A>G (p.Pro1257=) c.3402A>G (p.Pro1134=) n.3771A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338126A>T | CA16614145 | BRCA2 | c.3771A>T (p.Pro1257=) c.3402A>T (p.Pro1134=) n.3771A>T | ClinVar dbSNP |
| 13 | g.32338127del | CA018776 | BRCA2 | c.3772del (p.Ile1258Ter) c.3403del (p.Ile1135Ter) n.3772del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32338126_32338128delinsAAT | CA2082820577 | BRCA2 | c.3771_3773delinsAAT (p.Pro1257=) c.3402_3404delinsAAT (p.Pro1134=) n.3771_3773delinsAAT | |
| 13 | g.32338127A= | CA2082820598 | BRCA2 | c.3772A= (p.Ile1258=) c.3403A= (p.Ile1135=) n.3772A= | |
| 13 | g.32338127A>C | CA387778271 | BRCA2 | c.3772A>C (p.Ile1258Leu) c.3403A>C (p.Ile1135Leu) n.3772A>C | |
| 13 | g.32338127A>G | CA018772 | BRCA2 | c.3772A>G (p.Ile1258Val) c.3403A>G (p.Ile1135Val) n.3772A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338127A>T | CA387778273 | BRCA2 | c.3772A>T (p.Ile1258Leu) c.3403A>T (p.Ile1135Leu) n.3772A>T | dbSNP |
| 13 | g.32338128_32338129del | CA018782 | BRCA2 | c.3773_3774del (p.Ile1258LysfsTer6) c.3404_3405del (p.Ile1135LysfsTer6) n.3773_3774del | ClinVar dbSNP |
| 13 | g.32338128T>A | CA6940724 | BRCA2 | c.3773T>A (p.Ile1258Lys) c.3404T>A (p.Ile1135Lys) n.3773T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338128T>C | CA387778281 | BRCA2 | c.3773T>C (p.Ile1258Thr) c.3404T>C (p.Ile1135Thr) n.3773T>C | |
| 13 | g.32338128T>G | CA387778277 | BRCA2 | c.3773T>G (p.Ile1258Arg) c.3404T>G (p.Ile1135Arg) n.3773T>G | ClinVar dbSNP |
| 13 | g.32338128T= | CA2082820623 | BRCA2 | c.3773T= (p.Ile1258=) c.3404T= (p.Ile1135=) n.3773T= | |
| 13 | g.32338128_32338130delinsTAA | CA2082820608 | BRCA2 | c.3773_3775delinsTAA (p.Ile1258=) c.3404_3406delinsTAA (p.Ile1135=) n.3773_3775delinsTAA | |
| 13 | g.32338129A= | CA2082820643 | BRCA2 | c.3774A= (p.Ile1258=) c.3405A= (p.Ile1135=) n.3774A= | |
| 13 | g.32338129A>C | CA483437910 | BRCA2 | c.3774A>C (p.Ile1258=) c.3405A>C (p.Ile1135=) n.3774A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338129A>G | CA387778283 | BRCA2 | c.3774A>G (p.Ile1258Met) c.3405A>G (p.Ile1135Met) n.3774A>G | |
| 13 | g.32338129A>T | CA483437912 | BRCA2 | c.3774A>T (p.Ile1258=) c.3405A>T (p.Ile1135=) n.3774A>T | dbSNP |
| 13 | g.32338129_32338130del | CA10586515 | BRCA2 | c.3774_3775del (p.Ile1258MetfsTer6) c.3405_3406del (p.Ile1135MetfsTer6) n.3774_3775del | ClinVar dbSNP |
| 13 | g.32338130A= | CA2082820658 | BRCA2 | c.3775A= (p.Ser1259=) c.3406A= (p.Ser1136=) n.3775A= | |
| 13 | g.32338130A>C | CA018788 | BRCA2 | c.3775A>C (p.Ser1259Arg) c.3406A>C (p.Ser1136Arg) n.3775A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338130A>G | CA387778287 | BRCA2 | c.3775A>G (p.Ser1259Gly) c.3406A>G (p.Ser1136Gly) n.3775A>G | |
| 13 | g.32338130A>T | CA387778289 | BRCA2 | c.3775A>T (p.Ser1259Cys) c.3406A>T (p.Ser1136Cys) n.3775A>T | dbSNP |
| 13 | g.32338130_32338137dup | CA2573149335 | BRCA2 | c.3775_3782dup (p.Ser1262ValfsTer17) c.3406_3413dup (p.Ser1139ValfsTer17) n.3775_3782dup | ClinVar dbSNP |
| 13 | g.32338131G>A | CA6940725 | BRCA2 | c.3776G>A (p.Ser1259Asn) c.3407G>A (p.Ser1136Asn) n.3776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338131G>C | CA387778292 | BRCA2 | c.3776G>C (p.Ser1259Thr) c.3407G>C (p.Ser1136Thr) n.3776G>C | |
| 13 | g.32338131G= | CA2082820668 | BRCA2 | c.3776G= (p.Ser1259=) c.3407G= (p.Ser1136=) n.3776G= | |
| 13 | g.32338131G>T | CA387778294 | BRCA2 | c.3776G>T (p.Ser1259Ile) c.3407G>T (p.Ser1136Ile) n.3776G>T | gnomAD v4 |
| 13 | g.32338131_32338133delinsGTT | CA2082820667 | BRCA2 | c.3776_3778delinsGTT (p.Ser1259=) c.3407_3409delinsGTT (p.Ser1136=) n.3776_3778delinsGTT | |
| 13 | g.32338132T>A | CA387778299 | BRCA2 | c.3777T>A (p.Ser1259Arg) c.3408T>A (p.Ser1136Arg) n.3777T>A | ClinVar dbSNP |
| 13 | g.32338132T>C | CA483437914 | BRCA2 | c.3777T>C (p.Ser1259=) c.3408T>C (p.Ser1136=) n.3777T>C | |
| 13 | g.32338132T>G | CA387778301 | BRCA2 | c.3777T>G (p.Ser1259Arg) c.3408T>G (p.Ser1136Arg) n.3777T>G | dbSNP |
| 13 | g.32338134dup | CA10589222 | BRCA2 | c.3779dup (p.Leu1260PhefsTer5) c.3410dup (p.Leu1137PhefsTer5) n.3779dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338134del | CA018789 | BRCA2 | c.3779del (p.Leu1260TyrfsTer16) c.3410del (p.Leu1137TyrfsTer16) n.3779del | ClinVar dbSNP |
| 13 | g.32338133_32338134del | CA018795 | BRCA2 | c.3778_3779del (p.Leu1260IlefsTer4) c.3409_3410del (p.Leu1137IlefsTer4) n.3778_3779del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338133T>A | CA387778309 | BRCA2 | c.3778T>A (p.Leu1260Ile) c.3409T>A (p.Leu1137Ile) n.3778T>A | dbSNP |
| 13 | g.32338133T>C | CA483437918 | BRCA2 | c.3778T>C (p.Leu1260=) c.3409T>C (p.Leu1137=) n.3778T>C | ClinVar dbSNP |
| 13 | g.32338133T>G | CA387778311 | BRCA2 | c.3778T>G (p.Leu1260Val) c.3409T>G (p.Leu1137Val) n.3778T>G | |
| 13 | g.32338134T>A | CA387778313 | BRCA2 | c.3779T>A (p.Leu1260Ter) c.3410T>A (p.Leu1137Ter) n.3779T>A | ClinVar dbSNP |
| 13 | g.32338134T>C | CA387778316 | BRCA2 | c.3779T>C (p.Leu1260Ser) c.3410T>C (p.Leu1137Ser) n.3779T>C | |
| 13 | g.32338134T>G | CA387778317 | BRCA2 | c.3779T>G (p.Leu1260Ter) c.3410T>G (p.Leu1137Ter) n.3779T>G | ClinVar dbSNP |
| 13 | g.32338134T= | CA2082820695 | BRCA2 | c.3779T= (p.Leu1260=) c.3410T= (p.Leu1137=) n.3779T= | |
| 13 | g.32338135A>C | CA387778320 | BRCA2 | c.3780A>C (p.Leu1260Phe) c.3411A>C (p.Leu1137Phe) n.3780A>C | |
| 13 | g.32338135A>G | CA483437920 | BRCA2 | c.3780A>G (p.Leu1260=) c.3411A>G (p.Leu1137=) n.3780A>G | |
| 13 | g.32338135A>T | CA387778322 | BRCA2 | c.3780A>T (p.Leu1260Phe) c.3411A>T (p.Leu1137Phe) n.3780A>T | dbSNP |
| 13 | g.32338136T>A | CA387778323 | BRCA2 | c.3781T>A (p.Ser1261Thr) c.3412T>A (p.Ser1138Thr) n.3781T>A | ClinVar dbSNP |
| 13 | g.32338136T>C | CA387778328 | BRCA2 | c.3781T>C (p.Ser1261Pro) c.3412T>C (p.Ser1138Pro) n.3781T>C | dbSNP |
| 13 | g.32338136T>G | CA387778325 | BRCA2 | c.3781T>G (p.Ser1261Ala) c.3412T>G (p.Ser1138Ala) n.3781T>G | |
| 13 | g.32338137C>A | CA387778332 | BRCA2 | c.3782C>A (p.Ser1261Tyr) c.3413C>A (p.Ser1138Tyr) n.3782C>A | dbSNP |
| 13 | g.32338137C= | CA2082820707 | BRCA2 | c.3782C= (p.Ser1261=) c.3413C= (p.Ser1138=) n.3782C= | |
| 13 | g.32338137C>G | CA018805 | BRCA2 | c.3782C>G (p.Ser1261Cys) c.3413C>G (p.Ser1138Cys) n.3782C>G | ClinVar dbSNP |
| 13 | g.32338137C>T | CA387778334 | BRCA2 | c.3782C>T (p.Ser1261Phe) c.3413C>T (p.Ser1138Phe) n.3782C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338138T>A | CA483437922 | BRCA2 | c.3783T>A (p.Ser1261=) c.3414T>A (p.Ser1138=) n.3783T>A | dbSNP |
| 13 | g.32338138T>C | CA483437923 | BRCA2 | c.3783T>C (p.Ser1261=) c.3414T>C (p.Ser1138=) n.3783T>C | dbSNP |
| 13 | g.32338138T>G | CA483437924 | BRCA2 | c.3783T>G (p.Ser1261=) c.3414T>G (p.Ser1138=) n.3783T>G | |
| 13 | g.32338143_32338169del | CA2622600840 | BRCA2 | c.3788_3814del (p.Ser1263_Ser1271del) c.3419_3445del (p.Ser1140_Ser1148del) n.3788_3814del | gnomAD v4 |
| 13 | g.32338139T>A | CA387778338 | BRCA2 | c.3784T>A (p.Ser1262Thr) c.3415T>A (p.Ser1139Thr) n.3784T>A | dbSNP |
| 13 | g.32338139T>C | CA387778340 | BRCA2 | c.3784T>C (p.Ser1262Pro) c.3415T>C (p.Ser1139Pro) n.3784T>C | dbSNP |
| 13 | g.32338139T>G | CA387778342 | BRCA2 | c.3784T>G (p.Ser1262Ala) c.3415T>G (p.Ser1139Ala) n.3784T>G | ClinVar dbSNP |
| 13 | g.32338139T= | CA2082820714 | BRCA2 | c.3784T= (p.Ser1262=) c.3415T= (p.Ser1139=) n.3784T= | |
| 13 | g.32338140C>A | CA387778343 | BRCA2 | c.3785C>A (p.Ser1262Ter) c.3416C>A (p.Ser1139Ter) n.3785C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338140C= | CA2082820724 | BRCA2 | c.3785C= (p.Ser1262=) c.3416C= (p.Ser1139=) n.3785C= | |
| 13 | g.32338140C>G | CA018810 | BRCA2 | c.3785C>G (p.Ser1262Ter) c.3416C>G (p.Ser1139Ter) n.3785C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338140C>T | CA387778346 | BRCA2 | c.3785C>T (p.Ser1262Leu) c.3416C>T (p.Ser1139Leu) n.3785C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338141A= | CA2082820730 | BRCA2 | c.3786A= (p.Ser1262=) c.3417A= (p.Ser1139=) n.3786A= | |
| 13 | g.32338141A>C | CA483437925 | BRCA2 | c.3786A>C (p.Ser1262=) c.3417A>C (p.Ser1139=) n.3786A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338141A>G | CA483437927 | BRCA2 | c.3786A>G (p.Ser1262=) c.3417A>G (p.Ser1139=) n.3786A>G | ClinVar dbSNP |
| 13 | g.32338141A>T | CA16614296 | BRCA2 | c.3786A>T (p.Ser1262=) c.3417A>T (p.Ser1139=) n.3786A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338142A>C | CA387778348 | BRCA2 | c.3787A>C (p.Ser1263Arg) c.3418A>C (p.Ser1140Arg) n.3787A>C | |
| 13 | g.32338142A>G | CA387778350 | BRCA2 | c.3787A>G (p.Ser1263Gly) c.3418A>G (p.Ser1140Gly) n.3787A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338142A>T | CA387778352 | BRCA2 | c.3787A>T (p.Ser1263Cys) c.3418A>T (p.Ser1140Cys) n.3787A>T | dbSNP |
| 13 | g.32338143G>A | CA387778357 | BRCA2 | c.3788G>A (p.Ser1263Asn) c.3419G>A (p.Ser1140Asn) n.3788G>A | ClinVar dbSNP |
| 13 | g.32338143G>C | CA387778354 | BRCA2 | c.3788G>C (p.Ser1263Thr) c.3419G>C (p.Ser1140Thr) n.3788G>C | dbSNP |
| 13 | g.32338143G= | CA2082820737 | BRCA2 | c.3788G= (p.Ser1263=) c.3419G= (p.Ser1140=) n.3788G= | |
| 13 | g.32338143G>T | CA387778356 | BRCA2 | c.3788G>T (p.Ser1263Ile) c.3419G>T (p.Ser1140Ile) n.3788G>T | dbSNP |
| 13 | g.32338144T>A | CA387778359 | BRCA2 | c.3789T>A (p.Ser1263Arg) c.3420T>A (p.Ser1140Arg) n.3789T>A | |
| 13 | g.32338144T>C | CA10579589 | BRCA2 | c.3789T>C (p.Ser1263=) c.3420T>C (p.Ser1140=) n.3789T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338144T>G | CA387778362 | BRCA2 | c.3789T>G (p.Ser1263Arg) c.3420T>G (p.Ser1140Arg) n.3789T>G | |
| 13 | g.32338144T= | CA2082820767 | BRCA2 | c.3789T= (p.Ser1263=) c.3420T= (p.Ser1140=) n.3789T= | |
| 13 | g.32338145A>C | CA387778364 | BRCA2 | c.3790A>C (p.Lys1264Gln) c.3421A>C (p.Lys1141Gln) n.3790A>C | |
| 13 | g.32338145A>G | CA387778366 | BRCA2 | c.3790A>G (p.Lys1264Glu) c.3421A>G (p.Lys1141Glu) n.3790A>G | dbSNP |
| 13 | g.32338145A>T | CA387778367 | BRCA2 | c.3790A>T (p.Lys1264Ter) c.3421A>T (p.Lys1141Ter) n.3790A>T | dbSNP |
| 13 | g.32338145_32338155delinsTTATC | CA2580087226 | BRCA2 | c.3790_3800delinsTTATC (p.Lys1264_Asp1267delinsLeuSer) c.3421_3431delinsTTATC (p.Lys1141_Asp1144delinsLeuSer) n.3790_3800delinsTTATC | ClinVar |
| 13 | g.32338146A>C | CA387778369 | BRCA2 | c.3791A>C (p.Lys1264Thr) c.3422A>C (p.Lys1141Thr) n.3791A>C | |
| 13 | g.32338146A>G | CA387778370 | BRCA2 | c.3791A>G (p.Lys1264Arg) c.3422A>G (p.Lys1141Arg) n.3791A>G | gnomAD v4 COSMIC COSMIC |
| 13 | g.32338146A>T | CA387778372 | BRCA2 | c.3791A>T (p.Lys1264Ile) c.3422A>T (p.Lys1141Ile) n.3791A>T | dbSNP |
| 13 | g.32338147A= | CA2082820770 | BRCA2 | c.3792A= (p.Lys1264=) c.3423A= (p.Lys1141=) n.3792A= | |
| 13 | g.32338147A>C | CA387778374 | BRCA2 | c.3792A>C (p.Lys1264Asn) c.3423A>C (p.Lys1141Asn) n.3792A>C | |
| 13 | g.32338147A>G | CA483437933 | BRCA2 | c.3792A>G (p.Lys1264=) c.3423A>G (p.Lys1141=) n.3792A>G | ClinVar dbSNP |
| 13 | g.32338147A>T | CA387778375 | BRCA2 | c.3792A>T (p.Lys1264Asn) c.3423A>T (p.Lys1141Asn) n.3792A>T | dbSNP |
| 13 | g.32338148T>A | CA276189 | BRCA2 | c.3793T>A (p.Cys1265Ser) c.3424T>A (p.Cys1142Ser) n.3793T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338148T>C | CA387778379 | BRCA2 | c.3793T>C (p.Cys1265Arg) c.3424T>C (p.Cys1142Arg) n.3793T>C | dbSNP |
| 13 | g.32338148T>G | CA387778377 | BRCA2 | c.3793T>G (p.Cys1265Gly) c.3424T>G (p.Cys1142Gly) n.3793T>G | |
| 13 | g.32338148T= | CA2082820775 | BRCA2 | c.3793T= (p.Cys1265=) c.3424T= (p.Cys1142=) n.3793T= | |
| 13 | g.32338149G>A | CA387778387 | BRCA2 | c.3794G>A (p.Cys1265Tyr) c.3425G>A (p.Cys1142Tyr) n.3794G>A | ClinVar dbSNP |
| 13 | g.32338149G>C | CA387778388 | BRCA2 | c.3794G>C (p.Cys1265Ser) c.3425G>C (p.Cys1142Ser) n.3794G>C | ClinVar dbSNP |
| 13 | g.32338149G= | CA2082820789 | BRCA2 | c.3794G= (p.Cys1265=) c.3425G= (p.Cys1142=) n.3794G= | |
| 13 | g.32338149G>T | CA018818 | BRCA2 | c.3794G>T (p.Cys1265Phe) c.3425G>T (p.Cys1142Phe) n.3794G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338150T>A | CA387778391 | BRCA2 | c.3795T>A (p.Cys1265Ter) c.3426T>A (p.Cys1142Ter) n.3795T>A | ClinVar dbSNP |
| 13 | g.32338150T>C | CA483437937 | BRCA2 | c.3795T>C (p.Cys1265=) c.3426T>C (p.Cys1142=) n.3795T>C | gnomAD v4 |
| 13 | g.32338150T>G | CA387778392 | BRCA2 | c.3795T>G (p.Cys1265Trp) c.3426T>G (p.Cys1142Trp) n.3795T>G | |
| 13 | g.32338151C>A | CA387778393 | BRCA2 | c.3796C>A (p.His1266Asn) c.3427C>A (p.His1143Asn) n.3796C>A | dbSNP gnomAD v4 |
| 13 | g.32338151C= | CA2082820795 | BRCA2 | c.3796C= (p.His1266=) c.3427C= (p.His1143=) n.3796C= | |
| 13 | g.32338151C>G | CA387778394 | BRCA2 | c.3796C>G (p.His1266Asp) c.3427C>G (p.His1143Asp) n.3796C>G | dbSNP |
| 13 | g.32338151C>T | CA387778395 | BRCA2 | c.3796C>T (p.His1266Tyr) c.3427C>T (p.His1143Tyr) n.3796C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338152A= | CA2082820801 | BRCA2 | c.3797A= (p.His1266=) c.3428A= (p.His1143=) n.3797A= | |
| 13 | g.32338152A>C | CA387778397 | BRCA2 | c.3797A>C (p.His1266Pro) c.3428A>C (p.His1143Pro) n.3797A>C | |
| 13 | g.32338152A>G | CA387778398 | BRCA2 | c.3797A>G (p.His1266Arg) c.3428A>G (p.His1143Arg) n.3797A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338152A>T | CA387778400 | BRCA2 | c.3797A>T (p.His1266Leu) c.3428A>T (p.His1143Leu) n.3797A>T | ClinVar dbSNP |
| 13 | g.32338154_32338156del | CA2580087227 | BRCA2 | c.3799_3801del (p.Asp1267del) c.3430_3432del (p.Asp1144del) n.3799_3801del | ClinVar |
| 13 | g.32338153T>A | CA387778401 | BRCA2 | c.3798T>A (p.His1266Gln) c.3429T>A (p.His1143Gln) n.3798T>A | |
| 13 | g.32338153T>C | CA483437940 | BRCA2 | c.3798T>C (p.His1266=) c.3429T>C (p.His1143=) n.3798T>C | ClinVar dbSNP |
| 13 | g.32338153T>G | CA387778403 | BRCA2 | c.3798T>G (p.His1266Gln) c.3429T>G (p.His1143Gln) n.3798T>G | |
| 13 | g.32338153T= | CA2082820809 | BRCA2 | c.3798T= (p.His1266=) c.3429T= (p.His1143=) n.3798T= | |
| 13 | g.32338154G>A | CA387778407 | BRCA2 | c.3799G>A (p.Asp1267Asn) c.3430G>A (p.Asp1144Asn) n.3799G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338154G>C | CA387778405 | BRCA2 | c.3799G>C (p.Asp1267His) c.3430G>C (p.Asp1144His) n.3799G>C | dbSNP |
| 13 | g.32338154G= | CA2082820814 | BRCA2 | c.3799G= (p.Asp1267=) c.3430G= (p.Asp1144=) n.3799G= | |
| 13 | g.32338154G>T | CA387778404 | BRCA2 | c.3799G>T (p.Asp1267Tyr) c.3430G>T (p.Asp1144Tyr) n.3799G>T | dbSNP COSMIC COSMIC |
| 13 | g.32338155A= | CA2082820820 | BRCA2 | c.3800A= (p.Asp1267=) c.3431A= (p.Asp1144=) n.3800A= | |
| 13 | g.32338155A>C | CA387778409 | BRCA2 | c.3800A>C (p.Asp1267Ala) c.3431A>C (p.Asp1144Ala) n.3800A>C | |
| 13 | g.32338155A>G | CA387778411 | BRCA2 | c.3800A>G (p.Asp1267Gly) c.3431A>G (p.Asp1144Gly) n.3800A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338155A>T | CA387778412 | BRCA2 | c.3800A>T (p.Asp1267Val) c.3431A>T (p.Asp1144Val) n.3800A>T | dbSNP |
| 13 | g.32338156T>A | CA387778414 | BRCA2 | c.3801T>A (p.Asp1267Glu) c.3432T>A (p.Asp1144Glu) n.3801T>A | dbSNP |
| 13 | g.32338156T>C | CA483437941 | BRCA2 | c.3801T>C (p.Asp1267=) c.3432T>C (p.Asp1144=) n.3801T>C | dbSNP gnomAD v4 |
| 13 | g.32338156T>G | CA387778416 | BRCA2 | c.3801T>G (p.Asp1267Glu) c.3432T>G (p.Asp1144Glu) n.3801T>G | dbSNP |
| 13 | g.32338157T>A | CA6940726 | BRCA2 | c.3802T>A (p.Ser1268Thr) c.3433T>A (p.Ser1145Thr) n.3802T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338157T>C | CA387778418 | BRCA2 | c.3802T>C (p.Ser1268Pro) c.3433T>C (p.Ser1145Pro) n.3802T>C | ClinVar |
| 13 | g.32338157T>G | CA387778420 | BRCA2 | c.3802T>G (p.Ser1268Ala) c.3433T>G (p.Ser1145Ala) n.3802T>G | dbSNP |
| 13 | g.32338157T= | CA2082820827 | BRCA2 | c.3802T= (p.Ser1268=) c.3433T= (p.Ser1145=) n.3802T= | |
| 13 | g.32338158_32338159del | CA2580087228 | BRCA2 | c.3803_3804del (p.Ser1268CysfsTer6) c.3434_3435del (p.Ser1145CysfsTer6) n.3803_3804del | ClinVar |
| 13 | g.32338158C>A | CA387778422 | BRCA2 | c.3803C>A (p.Ser1268Tyr) c.3434C>A (p.Ser1145Tyr) n.3803C>A | gnomAD v4 COSMIC COSMIC |
| 13 | g.32338158C= | CA2082820846 | BRCA2 | c.3803C= (p.Ser1268=) c.3434C= (p.Ser1145=) n.3803C= | |
| 13 | g.32338158C>G | CA387778424 | BRCA2 | c.3803C>G (p.Ser1268Cys) c.3434C>G (p.Ser1145Cys) n.3803C>G | dbSNP |
| 13 | g.32338158C>T | CA10579590 | BRCA2 | c.3803C>T (p.Ser1268Phe) c.3434C>T (p.Ser1145Phe) n.3803C>T | ClinVar dbSNP |
| 13 | g.32338158_32338161delinsCTGT | CA2082820838 | BRCA2 | c.3803_3806delinsCTGT (p.Ser1268=) c.3434_3437delinsCTGT (p.Ser1145=) n.3803_3806delinsCTGT | |
| 13 | g.32338159T>A | CA483437943 | BRCA2 | c.3804T>A (p.Ser1268=) c.3435T>A (p.Ser1145=) n.3804T>A | dbSNP gnomAD v4 |
| 13 | g.32338159T>C | CA483437944 | BRCA2 | c.3804T>C (p.Ser1268=) c.3435T>C (p.Ser1145=) n.3804T>C | dbSNP gnomAD v4 |
| 13 | g.32338159T>G | CA483437946 | BRCA2 | c.3804T>G (p.Ser1268=) c.3435T>G (p.Ser1145=) n.3804T>G | |
| 13 | g.32338163_32338165del | CA018850 | BRCA2 | c.3808_3810del (p.Val1270del) c.3439_3441del (p.Val1147del) n.3808_3810del | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32338160G>A | CA387778429 | BRCA2 | c.3805G>A (p.Val1269Ile) c.3436G>A (p.Val1146Ile) n.3805G>A | |
| 13 | g.32338160G>C | CA387778427 | BRCA2 | c.3805G>C (p.Val1269Leu) c.3436G>C (p.Val1146Leu) n.3805G>C | |
| 13 | g.32338160G= | CA2082820861 | BRCA2 | c.3805G= (p.Val1269=) c.3436G= (p.Val1146=) n.3805G= | |
| 13 | g.32338160G>T | CA6940727 | BRCA2 | c.3805G>T (p.Val1269Phe) c.3436G>T (p.Val1146Phe) n.3805G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338161T>A | CA387778433 | BRCA2 | c.3806T>A (p.Val1269Asp) c.3437T>A (p.Val1146Asp) n.3806T>A | |
| 13 | g.32338161T>C | CA387778431 | BRCA2 | c.3806T>C (p.Val1269Ala) c.3437T>C (p.Val1146Ala) n.3806T>C | |
| 13 | g.32338161T>G | CA387778435 | BRCA2 | c.3806T>G (p.Val1269Gly) c.3437T>G (p.Val1146Gly) n.3806T>G | |
| 13 | g.32338161_32338163delinsTTG | CA2082820878 | BRCA2 | c.3806_3808delinsTTG (p.Val1269=) c.3437_3439delinsTTG (p.Val1146=) n.3806_3808delinsTTG | |
| 13 | g.32338161_32338162insCGTTTCAA | CA2573332129 | BRCA2 | c.3806_3807insCGTTTCAA (p.Lys1274GlnfsTer5) c.3437_3438insCGTTTCAA (p.Lys1151GlnfsTer5) n.3806_3807insCGTTTCAA | |
| 13 | g.32338162T>A | CA483437947 | BRCA2 | c.3807T>A (p.Val1269=) c.3438T>A (p.Val1146=) n.3807T>A | gnomAD v4 |
| 13 | g.32338162T>C | CA018842 | BRCA2 | c.3807T>C (p.Val1269=) c.3438T>C (p.Val1146=) n.3807T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338162T>G | CA018847 | BRCA2 | c.3807T>G (p.Val1269=) c.3438T>G (p.Val1146=) n.3807T>G | ClinVar dbSNP |
| 13 | g.32338162T= | CA1630855868 | BRCA2 | c.3807T= (p.Val1269=) c.3438T= (p.Val1146=) n.3807T= | |
| 13 | g.32338162_32338163delinsCA | CA334444 | BRCA2 | c.3807_3808delinsCA (p.Val1270Ile) c.3438_3439delinsCA (p.Val1147Ile) n.3807_3808delinsCA | ClinVar dbSNP |
| 13 | g.32338162_32338163delinsTG | CA2082820901 | BRCA2 | c.3807_3808delinsTG (p.Val1269=) c.3438_3439delinsTG (p.Val1146=) n.3807_3808delinsTG | |
| 13 | g.32338163_32338164del | CA10586516 | BRCA2 | c.3808_3809del (p.Val1270PhefsTer4) c.3439_3440del (p.Val1147PhefsTer4) n.3808_3809del | ClinVar dbSNP |
| 13 | g.32338163G>A | CA10579591 | BRCA2 | c.3808G>A (p.Val1270Ile) c.3439G>A (p.Val1147Ile) n.3808G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338163G>C | CA387778439 | BRCA2 | c.3808G>C (p.Val1270Leu) c.3439G>C (p.Val1147Leu) n.3808G>C | dbSNP |
| 13 | g.32338163G= | CA2082820911 | BRCA2 | c.3808G= (p.Val1270=) c.3439G= (p.Val1147=) n.3808G= | |
| 13 | g.32338163G>T | CA387778441 | BRCA2 | c.3808G>T (p.Val1270Phe) c.3439G>T (p.Val1147Phe) n.3808G>T | ClinVar dbSNP |
| 13 | g.32338163_32338164delinsGT | CA2082820912 | BRCA2 | c.3808_3809delinsGT (p.Val1270=) c.3439_3440delinsGT (p.Val1147=) n.3808_3809delinsGT | |
| 13 | g.32338164T>A | CA387778442 | BRCA2 | c.3809T>A (p.Val1270Asp) c.3440T>A (p.Val1147Asp) n.3809T>A | dbSNP |
| 13 | g.32338164T>C | CA387778444 | BRCA2 | c.3809T>C (p.Val1270Ala) c.3440T>C (p.Val1147Ala) n.3809T>C | ClinVar dbSNP |
| 13 | g.32338164T>G | CA387778445 | BRCA2 | c.3809T>G (p.Val1270Gly) c.3440T>G (p.Val1147Gly) n.3809T>G | dbSNP |
| 13 | g.32338164T= | CA2082820921 | BRCA2 | c.3809T= (p.Val1270=) c.3440T= (p.Val1147=) n.3809T= | |
| 13 | g.32338166del | CA658656322 | BRCA2 | c.3811del (p.Ser1271GlnfsTer5) c.3442del (p.Ser1148GlnfsTer5) n.3811del | ClinVar dbSNP |
| 13 | g.32338165T>A | CA483437950 | BRCA2 | c.3810T>A (p.Val1270=) c.3441T>A (p.Val1147=) n.3810T>A | dbSNP |
| 13 | g.32338165T>C | CA483437951 | BRCA2 | c.3810T>C (p.Val1270=) c.3441T>C (p.Val1147=) n.3810T>C | ClinVar dbSNP |
| 13 | g.32338165T>G | CA483437952 | BRCA2 | c.3810T>G (p.Val1270=) c.3441T>G (p.Val1147=) n.3810T>G | dbSNP |
| 13 | g.32338166T>A | CA387778448 | BRCA2 | c.3811T>A (p.Ser1271Thr) c.3442T>A (p.Ser1148Thr) n.3811T>A | dbSNP |
| 13 | g.32338166T>C | CA387778449 | BRCA2 | c.3811T>C (p.Ser1271Pro) c.3442T>C (p.Ser1148Pro) n.3811T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338166T>G | CA387778451 | BRCA2 | c.3811T>G (p.Ser1271Ala) c.3442T>G (p.Ser1148Ala) n.3811T>G | ClinVar |
| 13 | g.32338166T= | CA2082820923 | BRCA2 | c.3811T= (p.Ser1271=) c.3442T= (p.Ser1148=) n.3811T= | |
| 13 | g.32338167C>A | CA018857 | BRCA2 | c.3812C>A (p.Ser1271Ter) c.3443C>A (p.Ser1148Ter) n.3812C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338167C= | CA2082820934 | BRCA2 | c.3812C= (p.Ser1271=) c.3443C= (p.Ser1148=) n.3812C= | |
| 13 | g.32338167C>G | CA10589223 | BRCA2 | c.3812C>G (p.Ser1271Ter) c.3443C>G (p.Ser1148Ter) n.3812C>G | ClinVar dbSNP |
| 13 | g.32338167C>T | CA387778453 | BRCA2 | c.3812C>T (p.Ser1271Leu) c.3443C>T (p.Ser1148Leu) n.3812C>T | dbSNP |
| 13 | g.32338168A= | CA2082820936 | BRCA2 | c.3813A= (p.Ser1271=) c.3444A= (p.Ser1148=) n.3813A= | |
| 13 | g.32338168A>C | CA483437953 | BRCA2 | c.3813A>C (p.Ser1271=) c.3444A>C (p.Ser1148=) n.3813A>C | ClinVar |
| 13 | g.32338168A>G | CA483437954 | BRCA2 | c.3813A>G (p.Ser1271=) c.3444A>G (p.Ser1148=) n.3813A>G | ClinVar dbSNP |
| 13 | g.32338168A>T | CA483437955 | BRCA2 | c.3813A>T (p.Ser1271=) c.3444A>T (p.Ser1148=) n.3813A>T | dbSNP |
| 13 | g.32338168_32338169insC | CA658823697 | BRCA2 | c.3813_3814insC (p.Met1272HisfsTer3) c.3444_3445insC (p.Met1149HisfsTer3) n.3813_3814insC | ClinVar dbSNP |
| 13 | g.32338169A= | CA2082820943 | BRCA2 | c.3814A= (p.Met1272=) c.3445A= (p.Met1149=) n.3814A= | |
| 13 | g.32338169A>C | CA387778456 | BRCA2 | c.3814A>C (p.Met1272Leu) c.3445A>C (p.Met1149Leu) n.3814A>C | |
| 13 | g.32338169A>G | CA018861 | BRCA2 | c.3814A>G (p.Met1272Val) c.3445A>G (p.Met1149Val) n.3814A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338169A>T | CA387778458 | BRCA2 | c.3814A>T (p.Met1272Leu) c.3445A>T (p.Met1149Leu) n.3814A>T | ClinVar dbSNP |
| 13 | g.32338169_32338170insC | CA10589224 | BRCA2 | c.3814_3815insC (p.Met1272ThrfsTer3) c.3445_3446insC (p.Met1149ThrfsTer3) n.3814_3815insC | ClinVar dbSNP |
| 13 | g.32338170T>A | CA387778463 | BRCA2 | c.3815T>A (p.Met1272Lys) c.3446T>A (p.Met1149Lys) n.3815T>A | dbSNP |
| 13 | g.32338170T>C | CA387778462 | BRCA2 | c.3815T>C (p.Met1272Thr) c.3446T>C (p.Met1149Thr) n.3815T>C | dbSNP gnomAD v4 |
| 13 | g.32338170T>G | CA387778460 | BRCA2 | c.3815T>G (p.Met1272Arg) c.3446T>G (p.Met1149Arg) n.3815T>G | |
| 13 | g.32338171G>A | CA387778464 | BRCA2 | c.3816G>A (p.Met1272Ile) c.3447G>A (p.Met1149Ile) n.3816G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338171G>C | CA387778465 | BRCA2 | c.3816G>C (p.Met1272Ile) c.3447G>C (p.Met1149Ile) n.3816G>C | ClinVar dbSNP |
| 13 | g.32338171G= | CA2082820952 | BRCA2 | c.3816G= (p.Met1272=) c.3447G= (p.Met1149=) n.3816G= | |
| 13 | g.32338171G>T | CA387778466 | BRCA2 | c.3816G>T (p.Met1272Ile) c.3447G>T (p.Met1149Ile) n.3816G>T |