| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32370503_32371631dup | CA2580087371 | BRCA2 | c.8433_8632+531dup c.8064_8263+531dup c.900_1099+531dup c.8441_8640+531dup c.998_1197+531dup c.8337_8536+531dup | ClinVar |
| 13 | g.32371050_32371051del | CA915946899 | BRCA2 | c.8582_8583del (p.Arg2861ThrfsTer7) c.8213_8214del (p.Arg2738ThrfsTer7) c.1049_1050del (p.Arg350ThrfsTer7) c.8590_8591del (n.8590_8591del) c.1147_1148del c.80_81del (p.Arg27ThrfsTer7) c.8486_8487del (p.Arg2829ThrfsTer7) | ClinVar dbSNP |
| 13 | g.32371048_32371050del | CA2551397038 | BRCA2 | c.8580_8582del (p.Arg2861del) c.8211_8213del (p.Arg2738del) c.1047_1049del (p.Arg350del) c.8588_8590del (n.8588_8590del) c.1145_1147del c.78_80del (p.Arg27del) c.8484_8486del (p.Arg2829del) | |
| 13 | g.32371050G>A | CA387752840 | BRCA2 | c.8582G>A (p.Arg2861Lys) c.8213G>A (p.Arg2738Lys) c.1049G>A (p.Arg350Lys) c.8590G>A (n.8590G>A) c.1147G>A c.80G>A (p.Arg27Lys) c.8486G>A (p.Arg2829Lys) | dbSNP |
| 13 | g.32371050G>C | CA387752841 | BRCA2 | c.8582G>C (p.Arg2861Thr) c.8213G>C (p.Arg2738Thr) c.1049G>C (p.Arg350Thr) c.8590G>C (n.8590G>C) c.1147G>C c.80G>C (p.Arg27Thr) c.8486G>C (p.Arg2829Thr) | dbSNP |
| 13 | g.32371050G= | CA2082816178 | BRCA2 | c.8582G= (p.Arg2861=) c.8213G= (p.Arg2738=) c.1049G= (p.Arg350=) c.8590G= (n.8590G=) c.1147G= c.80G= (p.Arg27=) c.8486G= (p.Arg2829=) | |
| 13 | g.32371050G>T | CA387752842 | BRCA2 | c.8582G>T (p.Arg2861Ile) c.8213G>T (p.Arg2738Ile) c.1049G>T (p.Arg350Ile) c.8590G>T (n.8590G>T) c.1147G>T c.80G>T (p.Arg27Ile) c.8486G>T (p.Arg2829Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371050_32371052dup | CA915946900 | BRCA2 | c.8582_8584dup (p.Arg2861_Leu2862insArg) c.8213_8215dup (p.Arg2738_Leu2739insArg) c.1049_1051dup (p.Arg350_Leu351insArg) c.8590_8592dup (n.8590_8592dup) c.1147_1149dup c.80_82dup (p.Arg27_Leu28insArg) c.8486_8488dup (p.Arg2829_Leu2830insArg) | ClinVar dbSNP |
| 13 | g.32371051A>C | CA387752843 | BRCA2 | c.8583A>C (p.Arg2861Ser) c.8214A>C (p.Arg2738Ser) c.1050A>C (p.Arg350Ser) c.8591A>C (n.8591A>C) c.1148A>C c.81A>C (p.Arg27Ser) c.8487A>C (p.Arg2829Ser) | |
| 13 | g.32371051A>G | CA483261535 | BRCA2 | c.8583A>G (p.Arg2861=) c.8214A>G (p.Arg2738=) c.1050A>G (p.Arg350=) c.8591A>G (n.8591A>G) c.1148A>G c.81A>G (p.Arg27=) c.8487A>G (p.Arg2829=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371051A>T | CA387752844 | BRCA2 | c.8583A>T (p.Arg2861Ser) c.8214A>T (p.Arg2738Ser) c.1050A>T (p.Arg350Ser) c.8591A>T (n.8591A>T) c.1148A>T c.81A>T (p.Arg27Ser) c.8487A>T (p.Arg2829Ser) | dbSNP |
| 13 | g.32371051_32371057del | CA2536684871 | BRCA2 | c.8583_8589del (p.Leu2862ProfsTer27) c.8583_8589del (p.Leu2862ProfsTer22) c.8214_8220del (p.Leu2739ProfsTer27) c.8583_8589del (p.Leu2862ProfsTer28) c.1050_1056del (p.Leu351ProfsTer27) c.8591_8597del (n.8591_8597del) c.1148_1154del c.81_87del (p.Leu28ProfsTer22) c.8487_8493del (p.Leu2830ProfsTer27) | |
| 13 | g.32371052C>A | CA387752845 | BRCA2 | c.8584C>A (p.Leu2862Ile) c.8215C>A (p.Leu2739Ile) c.1051C>A (p.Leu351Ile) c.8592C>A (n.8592C>A) c.1149C>A c.82C>A (p.Leu28Ile) c.8488C>A (p.Leu2830Ile) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371052C= | CA2082816187 | BRCA2 | c.8584C= (p.Leu2862=) c.8215C= (p.Leu2739=) c.1051C= (p.Leu351=) c.8592C= (n.8592C=) c.1149C= c.82C= (p.Leu28=) c.8488C= (p.Leu2830=) | |
| 13 | g.32371052C>G | CA387752846 | BRCA2 | c.8584C>G (p.Leu2862Val) c.8215C>G (p.Leu2739Val) c.1051C>G (p.Leu351Val) c.8592C>G (n.8592C>G) c.1149C>G c.82C>G (p.Leu28Val) c.8488C>G (p.Leu2830Val) | dbSNP |
| 13 | g.32371052C>T | CA483261537 | BRCA2 | c.8584C>T (p.Leu2862=) c.8215C>T (p.Leu2739=) c.1051C>T (p.Leu351=) c.8592C>T (n.8592C>T) c.1149C>T c.82C>T (p.Leu28=) c.8488C>T (p.Leu2830=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371052_32371054delinsCTA | CA2082816188 | BRCA2 | c.8584_8586delinsCTA (p.Leu2862=) c.8215_8217delinsCTA (p.Leu2739=) c.1051_1053delinsCTA (p.Leu351=) c.8592_8594delinsCTA (n.8592_8594delinsCTA) c.1149_1151delinsCTA c.82_84delinsCTA (p.Leu28=) c.8488_8490delinsCTA (p.Leu2830=) | |
| 13 | g.32371053T>A | CA387752847 | BRCA2 | c.8585T>A (p.Leu2862Gln) c.8216T>A (p.Leu2739Gln) c.1052T>A (p.Leu351Gln) c.8593T>A (n.8593T>A) c.1150T>A c.83T>A (p.Leu28Gln) c.8489T>A (p.Leu2830Gln) | ClinVar dbSNP |
| 13 | g.32371053T>C | CA387752849 | BRCA2 | c.8585T>C (p.Leu2862Pro) c.8216T>C (p.Leu2739Pro) c.1052T>C (p.Leu351Pro) c.8593T>C (n.8593T>C) c.1150T>C c.83T>C (p.Leu28Pro) c.8489T>C (p.Leu2830Pro) | |
| 13 | g.32371053T>G | CA387752848 | BRCA2 | c.8585T>G (p.Leu2862Arg) c.8216T>G (p.Leu2739Arg) c.1052T>G (p.Leu351Arg) c.8593T>G (n.8593T>G) c.1150T>G c.83T>G (p.Leu28Arg) c.8489T>G (p.Leu2830Arg) | |
| 13 | g.32371053T= | CA2082816206 | BRCA2 | c.8585T= (p.Leu2862=) c.8216T= (p.Leu2739=) c.1052T= (p.Leu351=) c.8593T= (n.8593T=) c.1150T= c.83T= (p.Leu28=) c.8489T= (p.Leu2830=) | |
| 13 | g.32371053dup | CA025723 | BRCA2 | c.8585dup (p.Glu2863ArgfsTer6) c.8216dup (p.Glu2740ArgfsTer6) c.1052dup (p.Glu352ArgfsTer6) c.8593dup (n.8593dup) c.1150dup c.83dup (p.Glu29ArgfsTer6) c.8489dup (p.Glu2831ArgfsTer6) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371053_32371054del | CA10583144 | BRCA2 | c.8585_8586del (p.Leu2862ArgfsTer6) c.8216_8217del (p.Leu2739ArgfsTer6) c.1052_1053del (p.Leu351ArgfsTer6) c.8593_8594del (n.8593_8594del) c.1150_1151del c.83_84del (p.Leu28ArgfsTer6) c.8489_8490del (p.Leu2830ArgfsTer6) | ClinVar dbSNP |
| 13 | g.32371053_32371054delinsAG | CA658656383 | BRCA2 | c.8585_8586delinsAG (p.Leu2862Gln) c.8216_8217delinsAG (p.Leu2739Gln) c.1052_1053delinsAG (p.Leu351Gln) c.8593_8594delinsAG (n.8593_8594delinsAG) c.1150_1151delinsAG c.83_84delinsAG (p.Leu28Gln) c.8489_8490delinsAG (p.Leu2830Gln) | ClinVar dbSNP |
| 13 | g.32371053_32371054delinsTA | CA2082816214 | BRCA2 | c.8585_8586delinsTA (p.Leu2862=) c.8216_8217delinsTA (p.Leu2739=) c.1052_1053delinsTA (p.Leu351=) c.8593_8594delinsTA (n.8593_8594delinsTA) c.1150_1151delinsTA c.83_84delinsTA (p.Leu28=) c.8489_8490delinsTA (p.Leu2830=) | |
| 13 | g.32371054A= | CA2082816235 | BRCA2 | c.8586A= (p.Leu2862=) c.8217A= (p.Leu2739=) c.1053A= (p.Leu351=) c.8594A= (n.8594A=) c.1151A= c.84A= (p.Leu28=) c.8490A= (p.Leu2830=) | |
| 13 | g.32371054A>C | CA483261541 | BRCA2 | c.8586A>C (p.Leu2862=) c.8217A>C (p.Leu2739=) c.1053A>C (p.Leu351=) c.8594A>C (n.8594A>C) c.1151A>C c.84A>C (p.Leu28=) c.8490A>C (p.Leu2830=) | |
| 13 | g.32371054A>G | CA483261539 | BRCA2 | c.8586A>G (p.Leu2862=) c.8217A>G (p.Leu2739=) c.1053A>G (p.Leu351=) c.8594A>G (n.8594A>G) c.1151A>G c.84A>G (p.Leu28=) c.8490A>G (p.Leu2830=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371054A>T | CA483261543 | BRCA2 | c.8586A>T (p.Leu2862=) c.8217A>T (p.Leu2739=) c.1053A>T (p.Leu351=) c.8594A>T (n.8594A>T) c.1151A>T c.84A>T (p.Leu28=) c.8490A>T (p.Leu2830=) | ClinVar dbSNP |
| 13 | g.32371056_32371058dup | CA025724 | BRCA2 | c.8588_8590dup (p.Glu2863_Ala2864insGlu) c.8219_8221dup (p.Glu2740_Ala2741insGlu) c.1055_1057dup (p.Glu352_Ala353insGlu) c.8596_8598dup (n.8596_8598dup) c.1153_1155dup c.86_88dup (p.Glu29_Ala30insGlu) c.8492_8494dup (p.Glu2831_Ala2832insGlu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371055G>A | CA387752850 | BRCA2 | c.8587G>A (p.Glu2863Lys) c.8218G>A (p.Glu2740Lys) c.1054G>A (p.Glu352Lys) c.8595G>A (n.8595G>A) c.1152G>A c.85G>A (p.Glu29Lys) c.8491G>A (p.Glu2831Lys) | dbSNP |
| 13 | g.32371055G>C | CA387752851 | BRCA2 | c.8587G>C (p.Glu2863Gln) c.8218G>C (p.Glu2740Gln) c.1054G>C (p.Glu352Gln) c.8595G>C (n.8595G>C) c.1152G>C c.85G>C (p.Glu29Gln) c.8491G>C (p.Glu2831Gln) | ClinVar dbSNP |
| 13 | g.32371055G= | CA2082816249 | BRCA2 | c.8587G= (p.Glu2863=) c.8218G= (p.Glu2740=) c.1054G= (p.Glu352=) c.8595G= (n.8595G=) c.1152G= c.85G= (p.Glu29=) c.8491G= (p.Glu2831=) | |
| 13 | g.32371055G>T | CA387752852 | BRCA2 | c.8587G>T (p.Glu2863Ter) c.8218G>T (p.Glu2740Ter) c.1054G>T (p.Glu352Ter) c.8595G>T (n.8595G>T) c.1152G>T c.85G>T (p.Glu29Ter) c.8491G>T (p.Glu2831Ter) | dbSNP COSMIC COSMIC |
| 13 | g.32371055dup | CA2499222338 | BRCA2 | c.8587dup (p.Glu2863GlyfsTer6) c.8218dup (p.Glu2740GlyfsTer6) c.1054dup (p.Glu352GlyfsTer6) c.8595dup (n.8595dup) c.1152dup c.85dup (p.Glu29GlyfsTer6) c.8491dup (p.Glu2831GlyfsTer6) | ClinVar |
| 13 | g.32371056A= | CA2082816259 | BRCA2 | c.8588A= (p.Glu2863=) c.8219A= (p.Glu2740=) c.1055A= (p.Glu352=) c.8596A= (n.8596A=) c.1153A= c.86A= (p.Glu29=) c.8492A= (p.Glu2831=) | |
| 13 | g.32371056A>C | CA387752853 | BRCA2 | c.8588A>C (p.Glu2863Ala) c.8219A>C (p.Glu2740Ala) c.1055A>C (p.Glu352Ala) c.8596A>C (n.8596A>C) c.1153A>C c.86A>C (p.Glu29Ala) c.8492A>C (p.Glu2831Ala) | |
| 13 | g.32371056A>G | CA387752854 | BRCA2 | c.8588A>G (p.Glu2863Gly) c.8219A>G (p.Glu2740Gly) c.1055A>G (p.Glu352Gly) c.8596A>G (n.8596A>G) c.1153A>G c.86A>G (p.Glu29Gly) c.8492A>G (p.Glu2831Gly) | |
| 13 | g.32371056A>T | CA387752855 | BRCA2 | c.8588A>T (p.Glu2863Val) c.8219A>T (p.Glu2740Val) c.1055A>T (p.Glu352Val) c.8596A>T (n.8596A>T) c.1153A>T c.86A>T (p.Glu29Val) c.8492A>T (p.Glu2831Val) | ClinVar dbSNP |
| 13 | g.32371057dup | CA658761177 | BRCA2 | c.8589dup (p.Ala2864SerfsTer5) c.8220dup (p.Ala2741SerfsTer5) c.1056dup (p.Ala353SerfsTer5) c.8597dup (n.8597dup) c.1154dup c.87dup (p.Ala30SerfsTer5) c.8493dup (p.Ala2832SerfsTer5) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371057A>C | CA387752856 | BRCA2 | c.8589A>C (p.Glu2863Asp) c.8220A>C (p.Glu2740Asp) c.1056A>C (p.Glu352Asp) c.8597A>C (n.8597A>C) c.1154A>C c.87A>C (p.Glu29Asp) c.8493A>C (p.Glu2831Asp) | |
| 13 | g.32371057A>G | CA483261544 | BRCA2 | c.8589A>G (p.Glu2863=) c.8220A>G (p.Glu2740=) c.1056A>G (p.Glu352=) c.8597A>G (n.8597A>G) c.1154A>G c.87A>G (p.Glu29=) c.8493A>G (p.Glu2831=) | ClinVar |
| 13 | g.32371057A>T | CA387752857 | BRCA2 | c.8589A>T (p.Glu2863Asp) c.8220A>T (p.Glu2740Asp) c.1056A>T (p.Glu352Asp) c.8597A>T (n.8597A>T) c.1154A>T c.87A>T (p.Glu29Asp) c.8493A>T (p.Glu2831Asp) | dbSNP |
| 13 | g.32371057_32371060delinsAGCC | CA2082816266 | BRCA2 | c.8589_8592delinsAGCC (p.Glu2863=) c.8220_8223delinsAGCC (p.Glu2740=) c.1056_1059delinsAGCC (p.Glu352=) c.8597_8600delinsAGCC (n.8597_8600delinsAGCC) c.1154_1157delinsAGCC c.87_90delinsAGCC (p.Glu29=) c.8493_8496delinsAGCC (p.Glu2831=) | |
| 13 | g.32371058G>A | CA387752860 | BRCA2 | c.8590G>A (p.Ala2864Thr) c.8221G>A (p.Ala2741Thr) c.1057G>A (p.Ala353Thr) c.8598G>A (n.8598G>A) c.1155G>A c.88G>A (p.Ala30Thr) c.8494G>A (p.Ala2832Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371058G>C | CA387752859 | BRCA2 | c.8590G>C (p.Ala2864Pro) c.8221G>C (p.Ala2741Pro) c.1057G>C (p.Ala353Pro) c.8598G>C (n.8598G>C) c.1155G>C c.88G>C (p.Ala30Pro) c.8494G>C (p.Ala2832Pro) | dbSNP |
| 13 | g.32371058G= | CA2082816275 | BRCA2 | c.8590G= (p.Ala2864=) c.8221G= (p.Ala2741=) c.1057G= (p.Ala353=) c.8598G= (n.8598G=) c.1155G= c.88G= (p.Ala30=) c.8494G= (p.Ala2832=) | |
| 13 | g.32371058G>T | CA387752858 | BRCA2 | c.8590G>T (p.Ala2864Ser) c.8221G>T (p.Ala2741Ser) c.1057G>T (p.Ala353Ser) c.8598G>T (n.8598G>T) c.1155G>T c.88G>T (p.Ala30Ser) c.8494G>T (p.Ala2832Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32371058_32371059delinsGC | CA2082816272 | BRCA2 | c.8590_8591delinsGC (p.Ala2864=) c.8221_8222delinsGC (p.Ala2741=) c.1057_1058delinsGC (p.Ala353=) c.8598_8599delinsGC (n.8598_8599delinsGC) c.1155_1156delinsGC c.88_89delinsGC (p.Ala30=) c.8494_8495delinsGC (p.Ala2832=) | |
| 13 | g.32371058_32371060del | CA658656384 | BRCA2 | c.8590_8592del (p.Ala2864del) c.8221_8223del (p.Ala2741del) c.1057_1059del (p.Ala353del) c.8598_8600del (n.8598_8600del) c.1155_1157del c.88_90del (p.Ala30del) c.8494_8496del (p.Ala2832del) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371059C>A | CA387752862 | BRCA2 | c.8591C>A (p.Ala2864Asp) c.8222C>A (p.Ala2741Asp) c.1058C>A (p.Ala353Asp) c.8599C>A (n.8599C>A) c.1156C>A c.89C>A (p.Ala30Asp) c.8495C>A (p.Ala2832Asp) | ClinVar dbSNP |
| 13 | g.32371059C= | CA2082816289 | BRCA2 | c.8591C= (p.Ala2864=) c.8222C= (p.Ala2741=) c.1058C= (p.Ala353=) c.8599C= (n.8599C=) c.1156C= c.89C= (p.Ala30=) c.8495C= (p.Ala2832=) | |
| 13 | g.32371059C>G | CA387752861 | BRCA2 | c.8591C>G (p.Ala2864Gly) c.8222C>G (p.Ala2741Gly) c.1058C>G (p.Ala353Gly) c.8599C>G (n.8599C>G) c.1156C>G c.89C>G (p.Ala30Gly) c.8495C>G (p.Ala2832Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371059C>T | CA025725 | BRCA2 | c.8591C>T (p.Ala2864Val) c.8222C>T (p.Ala2741Val) c.1058C>T (p.Ala353Val) c.8599C>T (n.8599C>T) c.1156C>T c.89C>T (p.Ala30Val) c.8495C>T (p.Ala2832Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371060del | CA658823597 | BRCA2 | c.8592del (p.Leu2865TyrfsTer26) c.8592del (p.Leu2865TyrfsTer21) c.8223del (p.Leu2742TyrfsTer26) c.8592del (p.Leu2865TyrfsTer27) c.1059del (p.Leu354TyrfsTer26) c.8600del (n.8600del) c.1157del c.90del (p.Leu31TyrfsTer21) c.8496del (p.Leu2833TyrfsTer26) | ClinVar dbSNP |
| 13 | g.32371060C>A | CA483261545 | BRCA2 | c.8592C>A (p.Ala2864=) c.8223C>A (p.Ala2741=) c.1059C>A (p.Ala353=) c.8600C>A (n.8600C>A) c.1157C>A c.90C>A (p.Ala30=) c.8496C>A (p.Ala2832=) | dbSNP |
| 13 | g.32371060C= | CA2082816305 | BRCA2 | c.8592C= (p.Ala2864=) c.8223C= (p.Ala2741=) c.1059C= (p.Ala353=) c.8600C= (n.8600C=) c.1157C= c.90C= (p.Ala30=) c.8496C= (p.Ala2832=) | |
| 13 | g.32371060C>G | CA483261546 | BRCA2 | c.8592C>G (p.Ala2864=) c.8223C>G (p.Ala2741=) c.1059C>G (p.Ala353=) c.8600C>G (n.8600C>G) c.1157C>G c.90C>G (p.Ala30=) c.8496C>G (p.Ala2832=) | dbSNP |
| 13 | g.32371060C>T | CA6941261 | BRCA2 | c.8592C>T (p.Ala2864=) c.8223C>T (p.Ala2741=) c.1059C>T (p.Ala353=) c.8600C>T (n.8600C>T) c.1157C>T c.90C>T (p.Ala30=) c.8496C>T (p.Ala2832=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371061T>A | CA387752863 | BRCA2 | c.8593T>A (p.Leu2865Ile) c.8224T>A (p.Leu2742Ile) c.1060T>A (p.Leu354Ile) c.8601T>A (n.8601T>A) c.1158T>A c.91T>A (p.Leu31Ile) c.8497T>A (p.Leu2833Ile) | ClinVar dbSNP |
| 13 | g.32371061T>C | CA483261548 | BRCA2 | c.8593T>C (p.Leu2865=) c.8224T>C (p.Leu2742=) c.1060T>C (p.Leu354=) c.8601T>C (n.8601T>C) c.1158T>C c.91T>C (p.Leu31=) c.8497T>C (p.Leu2833=) | dbSNP gnomAD v4 |
| 13 | g.32371061T>G | CA025727 | BRCA2 | c.8593T>G (p.Leu2865Val) c.8224T>G (p.Leu2742Val) c.1060T>G (p.Leu354Val) c.8601T>G (n.8601T>G) c.1158T>G c.91T>G (p.Leu31Val) c.8497T>G (p.Leu2833Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32371061T= | CA2082816329 | BRCA2 | c.8593T= (p.Leu2865=) c.8224T= (p.Leu2742=) c.1060T= (p.Leu354=) c.8601T= (n.8601T=) c.1158T= c.91T= (p.Leu31=) c.8497T= (p.Leu2833=) | |
| 13 | g.32371062dup | CA025726 | BRCA2 | c.8594dup (p.Leu2865PhefsTer4) c.8225dup (p.Leu2742PhefsTer4) c.1061dup (p.Leu354PhefsTer4) c.8602dup (n.8602dup) c.1159dup c.92dup (p.Leu31PhefsTer4) c.8498dup (p.Leu2833PhefsTer4) | ClinVar dbSNP |
| 13 | g.32371062T>A | CA025729 | BRCA2 | c.8594T>A (p.Leu2865Ter) c.8225T>A (p.Leu2742Ter) c.1061T>A (p.Leu354Ter) c.8602T>A (n.8602T>A) c.1159T>A c.92T>A (p.Leu31Ter) c.8498T>A (p.Leu2833Ter) | ClinVar dbSNP |
| 13 | g.32371062T>C | CA387752864 | BRCA2 | c.8594T>C (p.Leu2865Ser) c.8225T>C (p.Leu2742Ser) c.1061T>C (p.Leu354Ser) c.8602T>C (n.8602T>C) c.1159T>C c.92T>C (p.Leu31Ser) c.8498T>C (p.Leu2833Ser) | ClinVar dbSNP |
| 13 | g.32371062T>G | CA387752865 | BRCA2 | c.8594T>G (p.Leu2865Ter) c.8225T>G (p.Leu2742Ter) c.1061T>G (p.Leu354Ter) c.8602T>G (n.8602T>G) c.1159T>G c.92T>G (p.Leu31Ter) c.8498T>G (p.Leu2833Ter) | dbSNP |
| 13 | g.32371062T= | CA2082816340 | BRCA2 | c.8594T= (p.Leu2865=) c.8225T= (p.Leu2742=) c.1061T= (p.Leu354=) c.8602T= (n.8602T=) c.1159T= c.92T= (p.Leu31=) c.8498T= (p.Leu2833=) | |
| 13 | g.32371063A= | CA2082816348 | BRCA2 | c.8595A= (p.Leu2865=) c.8226A= (p.Leu2742=) c.1062A= (p.Leu354=) c.8603A= (n.8603A=) c.1160A= c.93A= (p.Leu31=) c.8499A= (p.Leu2833=) | |
| 13 | g.32371063A>C | CA387752866 | BRCA2 | c.8595A>C (p.Leu2865Phe) c.8226A>C (p.Leu2742Phe) c.1062A>C (p.Leu354Phe) c.8603A>C (n.8603A>C) c.1160A>C c.93A>C (p.Leu31Phe) c.8499A>C (p.Leu2833Phe) | |
| 13 | g.32371063A>G | CA483261551 | BRCA2 | c.8595A>G (p.Leu2865=) c.8226A>G (p.Leu2742=) c.1062A>G (p.Leu354=) c.8603A>G (n.8603A>G) c.1160A>G c.93A>G (p.Leu31=) c.8499A>G (p.Leu2833=) | ClinVar dbSNP |
| 13 | g.32371063A>T | CA387752867 | BRCA2 | c.8595A>T (p.Leu2865Phe) c.8226A>T (p.Leu2742Phe) c.1062A>T (p.Leu354Phe) c.8603A>T (n.8603A>T) c.1160A>T c.93A>T (p.Leu31Phe) c.8499A>T (p.Leu2833Phe) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371064T>A | CA387752868 | BRCA2 | c.8596T>A (p.Phe2866Ile) c.8227T>A (p.Phe2743Ile) c.1063T>A (p.Phe355Ile) c.8604T>A (n.8604T>A) c.1161T>A c.94T>A (p.Phe32Ile) c.8500T>A (p.Phe2834Ile) | dbSNP |
| 13 | g.32371064T>C | CA387752869 | BRCA2 | c.8596T>C (p.Phe2866Leu) c.8227T>C (p.Phe2743Leu) c.1063T>C (p.Phe355Leu) c.8604T>C (n.8604T>C) c.1161T>C c.94T>C (p.Phe32Leu) c.8500T>C (p.Phe2834Leu) | dbSNP gnomAD v4 |
| 13 | g.32371064T>G | CA387752870 | BRCA2 | c.8596T>G (p.Phe2866Val) c.8227T>G (p.Phe2743Val) c.1063T>G (p.Phe355Val) c.8604T>G (n.8604T>G) c.1161T>G c.94T>G (p.Phe32Val) c.8500T>G (p.Phe2834Val) | ClinVar dbSNP |
| 13 | g.32371064T= | CA2082816355 | BRCA2 | c.8596T= (p.Phe2866=) c.8227T= (p.Phe2743=) c.1063T= (p.Phe355=) c.8604T= (n.8604T=) c.1161T= c.94T= (p.Phe32=) c.8500T= (p.Phe2834=) | |
| 13 | g.32371065T>A | CA387752872 | BRCA2 | c.8597T>A (p.Phe2866Tyr) c.8228T>A (p.Phe2743Tyr) c.1064T>A (p.Phe355Tyr) c.8605T>A (n.8605T>A) c.1162T>A c.95T>A (p.Phe32Tyr) c.8501T>A (p.Phe2834Tyr) | |
| 13 | g.32371065T>C | CA387752875 | BRCA2 | c.8597T>C (p.Phe2866Ser) c.8228T>C (p.Phe2743Ser) c.1064T>C (p.Phe355Ser) c.8605T>C (n.8605T>C) c.1162T>C c.95T>C (p.Phe32Ser) c.8501T>C (p.Phe2834Ser) | |
| 13 | g.32371065T>G | CA387752874 | BRCA2 | c.8597T>G (p.Phe2866Cys) c.8228T>G (p.Phe2743Cys) c.1064T>G (p.Phe355Cys) c.8605T>G (n.8605T>G) c.1162T>G c.95T>G (p.Phe32Cys) c.8501T>G (p.Phe2834Cys) | |
| 13 | g.32371066C>A | CA387752877 | BRCA2 | c.8598C>A (p.Phe2866Leu) c.8229C>A (p.Phe2743Leu) c.1065C>A (p.Phe355Leu) c.8606C>A (n.8606C>A) c.1163C>A c.96C>A (p.Phe32Leu) c.8502C>A (p.Phe2834Leu) | dbSNP |
| 13 | g.32371066C>G | CA387752878 | BRCA2 | c.8598C>G (p.Phe2866Leu) c.8229C>G (p.Phe2743Leu) c.1065C>G (p.Phe355Leu) c.8606C>G (n.8606C>G) c.1163C>G c.96C>G (p.Phe32Leu) c.8502C>G (p.Phe2834Leu) | dbSNP |
| 13 | g.32371066C>T | CA483261555 | BRCA2 | c.8598C>T (p.Phe2866=) c.8229C>T (p.Phe2743=) c.1065C>T (p.Phe355=) c.8606C>T (n.8606C>T) c.1163C>T c.96C>T (p.Phe32=) c.8502C>T (p.Phe2834=) | dbSNP |
| 13 | g.32371067A= | CA2082816361 | BRCA2 | c.8599A= (p.Thr2867=) c.8230A= (p.Thr2744=) c.1066A= (p.Thr356=) c.8607A= (n.8607A=) c.1164A= c.97A= (p.Thr33=) c.8503A= (p.Thr2835=) | |
| 13 | g.32371067A>C | CA025730 | BRCA2 | c.8599A>C (p.Thr2867Pro) c.8230A>C (p.Thr2744Pro) c.1066A>C (p.Thr356Pro) c.8607A>C (n.8607A>C) c.1164A>C c.97A>C (p.Thr33Pro) c.8503A>C (p.Thr2835Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371067A>G | CA387752880 | BRCA2 | c.8599A>G (p.Thr2867Ala) c.8230A>G (p.Thr2744Ala) c.1066A>G (p.Thr356Ala) c.8607A>G (n.8607A>G) c.1164A>G c.97A>G (p.Thr33Ala) c.8503A>G (p.Thr2835Ala) | ClinVar |
| 13 | g.32371067A>T | CA387752881 | BRCA2 | c.8599A>T (p.Thr2867Ser) c.8230A>T (p.Thr2744Ser) c.1066A>T (p.Thr356Ser) c.8607A>T (n.8607A>T) c.1164A>T c.97A>T (p.Thr33Ser) c.8503A>T (p.Thr2835Ser) | dbSNP |
| 13 | g.32371068C>A | CA387752884 | BRCA2 | c.8600C>A (p.Thr2867Asn) c.8231C>A (p.Thr2744Asn) c.1067C>A (p.Thr356Asn) c.8608C>A (n.8608C>A) c.1165C>A c.98C>A (p.Thr33Asn) c.8504C>A (p.Thr2835Asn) | |
| 13 | g.32371068C= | CA2082816368 | BRCA2 | c.8600C= (p.Thr2867=) c.8231C= (p.Thr2744=) c.1067C= (p.Thr356=) c.8608C= (n.8608C=) c.1165C= c.98C= (p.Thr33=) c.8504C= (p.Thr2835=) | |
| 13 | g.32371068C>G | CA387752886 | BRCA2 | c.8600C>G (p.Thr2867Ser) c.8231C>G (p.Thr2744Ser) c.1067C>G (p.Thr356Ser) c.8608C>G (n.8608C>G) c.1165C>G c.98C>G (p.Thr33Ser) c.8504C>G (p.Thr2835Ser) | dbSNP |
| 13 | g.32371068C>T | CA387752887 | BRCA2 | c.8600C>T (p.Thr2867Ile) c.8231C>T (p.Thr2744Ile) c.1067C>T (p.Thr356Ile) c.8608C>T (n.8608C>T) c.1165C>T c.98C>T (p.Thr33Ile) c.8504C>T (p.Thr2835Ile) | ClinVar dbSNP |
| 13 | g.32371069T>A | CA483261556 | BRCA2 | c.8601T>A (p.Thr2867=) c.8232T>A (p.Thr2744=) c.1068T>A (p.Thr356=) c.8609T>A (n.8609T>A) c.1166T>A c.99T>A (p.Thr33=) c.8505T>A (p.Thr2835=) | |
| 13 | g.32371069T>C | CA483261557 | BRCA2 | c.8601T>C (p.Thr2867=) c.8232T>C (p.Thr2744=) c.1068T>C (p.Thr356=) c.8609T>C (n.8609T>C) c.1166T>C c.99T>C (p.Thr33=) c.8505T>C (p.Thr2835=) | |
| 13 | g.32371069T>G | CA483261558 | BRCA2 | c.8601T>G (p.Thr2867=) c.8232T>G (p.Thr2744=) c.1068T>G (p.Thr356=) c.8609T>G (n.8609T>G) c.1166T>G c.99T>G (p.Thr33=) c.8505T>G (p.Thr2835=) | |
| 13 | g.32371069dup | CA025731 | BRCA2 | c.8601dup (p.Lys2868Ter) c.8232dup (p.Lys2745Ter) c.1068dup (p.Lys357Ter) c.8609dup (n.8609dup) c.1166dup c.99dup (p.Lys34Ter) c.8505dup (p.Lys2836Ter) | ClinVar dbSNP |
| 13 | g.32371070A= | CA2082816373 | BRCA2 | c.8602A= (p.Lys2868=) c.8233A= (p.Lys2745=) c.1069A= (p.Lys357=) c.8610A= (n.8610A=) c.1167A= c.100A= (p.Lys34=) c.8506A= (p.Lys2836=) | |
| 13 | g.32371070A>C | CA387752890 | BRCA2 | c.8602A>C (p.Lys2868Gln) c.8233A>C (p.Lys2745Gln) c.1069A>C (p.Lys357Gln) c.8610A>C (n.8610A>C) c.1167A>C c.100A>C (p.Lys34Gln) c.8506A>C (p.Lys2836Gln) | |
| 13 | g.32371070A>G | CA387752891 | BRCA2 | c.8602A>G (p.Lys2868Glu) c.8233A>G (p.Lys2745Glu) c.1069A>G (p.Lys357Glu) c.8610A>G (n.8610A>G) c.1167A>G c.100A>G (p.Lys34Glu) c.8506A>G (p.Lys2836Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32371070A>T | CA387752892 | BRCA2 | c.8602A>T (p.Lys2868Ter) c.8233A>T (p.Lys2745Ter) c.1069A>T (p.Lys357Ter) c.8610A>T (n.8610A>T) c.1167A>T c.100A>T (p.Lys34Ter) c.8506A>T (p.Lys2836Ter) | |
| 13 | g.32371071A= | CA2082816381 | BRCA2 | c.8603A= (p.Lys2868=) c.8234A= (p.Lys2745=) c.1070A= (p.Lys357=) c.8611A= (n.8611A=) c.1168A= c.101A= (p.Lys34=) c.8507A= (p.Lys2836=) | |
| 13 | g.32371071A>C | CA387752896 | BRCA2 | c.8603A>C (p.Lys2868Thr) c.8234A>C (p.Lys2745Thr) c.1070A>C (p.Lys357Thr) c.8611A>C (n.8611A>C) c.1168A>C c.101A>C (p.Lys34Thr) c.8507A>C (p.Lys2836Thr) | |
| 13 | g.32371071A>G | CA6941262 | BRCA2 | c.8603A>G (p.Lys2868Arg) c.8234A>G (p.Lys2745Arg) c.1070A>G (p.Lys357Arg) c.8611A>G (n.8611A>G) c.1168A>G c.101A>G (p.Lys34Arg) c.8507A>G (p.Lys2836Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371071A>T | CA387752894 | BRCA2 | c.8603A>T (p.Lys2868Ile) c.8234A>T (p.Lys2745Ile) c.1070A>T (p.Lys357Ile) c.8611A>T (n.8611A>T) c.1168A>T c.101A>T (p.Lys34Ile) c.8507A>T (p.Lys2836Ile) | dbSNP |
| 13 | g.32371072A>C | CA387752897 | BRCA2 | c.8604A>C (p.Lys2868Asn) c.8235A>C (p.Lys2745Asn) c.1071A>C (p.Lys357Asn) c.8612A>C (n.8612A>C) c.1169A>C c.102A>C (p.Lys34Asn) c.8508A>C (p.Lys2836Asn) | |
| 13 | g.32371072A>G | CA483261559 | BRCA2 | c.8604A>G (p.Lys2868=) c.8235A>G (p.Lys2745=) c.1071A>G (p.Lys357=) c.8612A>G (n.8612A>G) c.1169A>G c.102A>G (p.Lys34=) c.8508A>G (p.Lys2836=) | |
| 13 | g.32371072A>T | CA387752899 | BRCA2 | c.8604A>T (p.Lys2868Asn) c.8235A>T (p.Lys2745Asn) c.1071A>T (p.Lys357Asn) c.8612A>T (n.8612A>T) c.1169A>T c.102A>T (p.Lys34Asn) c.8508A>T (p.Lys2836Asn) | dbSNP |
| 13 | g.32371073A= | CA2082816407 | BRCA2 | c.8605A= (p.Ile2869=) c.8236A= (p.Ile2746=) c.1072A= (p.Ile358=) c.8613A= (n.8613A=) c.1170A= c.103A= (p.Ile35=) c.8509A= (p.Ile2837=) | |
| 13 | g.32371073A>C | CA387752901 | BRCA2 | c.8605A>C (p.Ile2869Leu) c.8236A>C (p.Ile2746Leu) c.1072A>C (p.Ile358Leu) c.8613A>C (n.8613A>C) c.1170A>C c.103A>C (p.Ile35Leu) c.8509A>C (p.Ile2837Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371073A>G | CA387752903 | BRCA2 | c.8605A>G (p.Ile2869Val) c.8236A>G (p.Ile2746Val) c.1072A>G (p.Ile358Val) c.8613A>G (n.8613A>G) c.1170A>G c.103A>G (p.Ile35Val) c.8509A>G (p.Ile2837Val) | ClinVar |
| 13 | g.32371073A>T | CA387752905 | BRCA2 | c.8605A>T (p.Ile2869Phe) c.8236A>T (p.Ile2746Phe) c.1072A>T (p.Ile358Phe) c.8613A>T (n.8613A>T) c.1170A>T c.103A>T (p.Ile35Phe) c.8509A>T (p.Ile2837Phe) | |
| 13 | g.32371073_32371074delinsAT | CA2082816405 | BRCA2 | c.8605_8606delinsAT (p.Ile2869=) c.8236_8237delinsAT (p.Ile2746=) c.1072_1073delinsAT (p.Ile358=) c.8613_8614delinsAT (n.8613_8614delinsAT) c.1170_1171delinsAT c.103_104delinsAT (p.Ile35=) c.8509_8510delinsAT (p.Ile2837=) | |
| 13 | g.32371074T>A | CA387752907 | BRCA2 | c.8606T>A (p.Ile2869Asn) c.8237T>A (p.Ile2746Asn) c.1073T>A (p.Ile358Asn) c.8614T>A (n.8614T>A) c.1171T>A c.104T>A (p.Ile35Asn) c.8510T>A (p.Ile2837Asn) | ClinVar dbSNP |
| 13 | g.32371074T>C | CA387752909 | BRCA2 | c.8606T>C (p.Ile2869Thr) c.8237T>C (p.Ile2746Thr) c.1073T>C (p.Ile358Thr) c.8614T>C (n.8614T>C) c.1171T>C c.104T>C (p.Ile35Thr) c.8510T>C (p.Ile2837Thr) | |
| 13 | g.32371074T>G | CA387752910 | BRCA2 | c.8606T>G (p.Ile2869Ser) c.8237T>G (p.Ile2746Ser) c.1073T>G (p.Ile358Ser) c.8614T>G (n.8614T>G) c.1171T>G c.104T>G (p.Ile35Ser) c.8510T>G (p.Ile2837Ser) | |
| 13 | g.32371074T= | CA2082816419 | BRCA2 | c.8606T= (p.Ile2869=) c.8237T= (p.Ile2746=) c.1073T= (p.Ile358=) c.8614T= (n.8614T=) c.1171T= c.104T= (p.Ile35=) c.8510T= (p.Ile2837=) | |
| 13 | g.32371074_32371075del | CA2580087403 | BRCA2 | c.8606_8607del (p.Ile2869ThrfsTer5) c.8237_8238del (p.Ile2746ThrfsTer5) c.1073_1074del (p.Ile358ThrfsTer5) c.8614_8615del (n.8614_8615del) c.1171_1172del c.104_105del (p.Ile35ThrfsTer5) c.8510_8511del (p.Ile2837ThrfsTer5) | ClinVar |
| 13 | g.32371075del | CA16614011 | BRCA2 | c.8607del (p.Gln2870ArgfsTer21) c.8607del (p.Gln2870ArgfsTer16) c.8238del (p.Gln2747ArgfsTer21) c.8607del (p.Gln2870ArgfsTer22) c.1074del (p.Gln359ArgfsTer21) c.8615del (n.8615del) c.1172del c.105del (p.Gln36ArgfsTer16) c.8511del (p.Gln2838ArgfsTer21) | ClinVar dbSNP |
| 13 | g.32371075T>A | CA16613967 | BRCA2 | c.8607T>A (p.Ile2869=) c.8238T>A (p.Ile2746=) c.1074T>A (p.Ile358=) c.8615T>A (n.8615T>A) c.1172T>A c.105T>A (p.Ile35=) c.8511T>A (p.Ile2837=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371075T>C | CA025732 | BRCA2 | c.8607T>C (p.Ile2869=) c.8238T>C (p.Ile2746=) c.1074T>C (p.Ile358=) c.8615T>C (n.8615T>C) c.1172T>C c.105T>C (p.Ile35=) c.8511T>C (p.Ile2837=) | ClinVar dbSNP |
| 13 | g.32371075T>G | CA387752911 | BRCA2 | c.8607T>G (p.Ile2869Met) c.8238T>G (p.Ile2746Met) c.1074T>G (p.Ile358Met) c.8615T>G (n.8615T>G) c.1172T>G c.105T>G (p.Ile35Met) c.8511T>G (p.Ile2837Met) | |
| 13 | g.32371075T= | CA2082816432 | BRCA2 | c.8607T= (p.Ile2869=) c.8238T= (p.Ile2746=) c.1074T= (p.Ile358=) c.8615T= (n.8615T=) c.1172T= c.105T= (p.Ile35=) c.8511T= (p.Ile2837=) | |
| 13 | g.32371076C>A | CA387752912 | BRCA2 | c.8608C>A (p.Gln2870Lys) c.8239C>A (p.Gln2747Lys) c.1075C>A (p.Gln359Lys) c.8616C>A (n.8616C>A) c.1173C>A c.106C>A (p.Gln36Lys) c.8512C>A (p.Gln2838Lys) | |
| 13 | g.32371076C= | CA2082816439 | BRCA2 | c.8608C= (p.Gln2870=) c.8239C= (p.Gln2747=) c.1075C= (p.Gln359=) c.8616C= (n.8616C=) c.1173C= c.106C= (p.Gln36=) c.8512C= (p.Gln2838=) | |
| 13 | g.32371076C>G | CA387752913 | BRCA2 | c.8608C>G (p.Gln2870Glu) c.8239C>G (p.Gln2747Glu) c.1075C>G (p.Gln359Glu) c.8616C>G (n.8616C>G) c.1173C>G c.106C>G (p.Gln36Glu) c.8512C>G (p.Gln2838Glu) | dbSNP gnomAD v4 |
| 13 | g.32371076C>T | CA025733 | BRCA2 | c.8608C>T (p.Gln2870Ter) c.8239C>T (p.Gln2747Ter) c.1075C>T (p.Gln359Ter) c.8616C>T (n.8616C>T) c.1173C>T c.106C>T (p.Gln36Ter) c.8512C>T (p.Gln2838Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32371077A>C | CA387752918 | BRCA2 | c.8609A>C (p.Gln2870Pro) c.8240A>C (p.Gln2747Pro) c.1076A>C (p.Gln359Pro) c.8617A>C (n.8617A>C) c.1174A>C c.107A>C (p.Gln36Pro) c.8513A>C (p.Gln2838Pro) | |
| 13 | g.32371077A>G | CA387752914 | BRCA2 | c.8609A>G (p.Gln2870Arg) c.8240A>G (p.Gln2747Arg) c.1076A>G (p.Gln359Arg) c.8617A>G (n.8617A>G) c.1174A>G c.107A>G (p.Gln36Arg) c.8513A>G (p.Gln2838Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371077A>T | CA387752916 | BRCA2 | c.8609A>T (p.Gln2870Leu) c.8240A>T (p.Gln2747Leu) c.1076A>T (p.Gln359Leu) c.8617A>T (n.8617A>T) c.1174A>T c.107A>T (p.Gln36Leu) c.8513A>T (p.Gln2838Leu) | |
| 13 | g.32371078G>A | CA483261560 | BRCA2 | c.8610G>A (p.Gln2870=) c.8241G>A (p.Gln2747=) c.1077G>A (p.Gln359=) c.8618G>A (n.8618G>A) c.1175G>A c.108G>A (p.Gln36=) c.8514G>A (p.Gln2838=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371078G>C | CA387752921 | BRCA2 | c.8610G>C (p.Gln2870His) c.8241G>C (p.Gln2747His) c.1077G>C (p.Gln359His) c.8618G>C (n.8618G>C) c.1175G>C c.108G>C (p.Gln36His) c.8514G>C (p.Gln2838His) | ClinVar dbSNP |
| 13 | g.32371078G= | CA2082816446 | BRCA2 | c.8610G= (p.Gln2870=) c.8241G= (p.Gln2747=) c.1077G= (p.Gln359=) c.8618G= (n.8618G=) c.1175G= c.108G= (p.Gln36=) c.8514G= (p.Gln2838=) | |
| 13 | g.32371078G>T | CA387752922 | BRCA2 | c.8610G>T (p.Gln2870His) c.8241G>T (p.Gln2747His) c.1077G>T (p.Gln359His) c.8618G>T (n.8618G>T) c.1175G>T c.108G>T (p.Gln36His) c.8514G>T (p.Gln2838His) | dbSNP |
| 13 | g.32371079G>A | CA387752925 | BRCA2 | c.8611G>A (p.Glu2871Lys) c.8242G>A (p.Glu2748Lys) c.1078G>A (p.Glu360Lys) c.8619G>A (n.8619G>A) c.1176G>A c.109G>A (p.Glu37Lys) c.8515G>A (p.Glu2839Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371079G>C | CA025734 | BRCA2 | c.8611G>C (p.Glu2871Gln) c.8242G>C (p.Glu2748Gln) c.1078G>C (p.Glu360Gln) c.8619G>C (n.8619G>C) c.1176G>C c.109G>C (p.Glu37Gln) c.8515G>C (p.Glu2839Gln) | ClinVar dbSNP |
| 13 | g.32371079G= | CA2082816458 | BRCA2 | c.8611G= (p.Glu2871=) c.8242G= (p.Glu2748=) c.1078G= (p.Glu360=) c.8619G= (n.8619G=) c.1176G= c.109G= (p.Glu37=) c.8515G= (p.Glu2839=) | |
| 13 | g.32371079G>T | CA387752927 | BRCA2 | c.8611G>T (p.Glu2871Ter) c.8242G>T (p.Glu2748Ter) c.1078G>T (p.Glu360Ter) c.8619G>T (n.8619G>T) c.1176G>T c.109G>T (p.Glu37Ter) c.8515G>T (p.Glu2839Ter) | ClinVar dbSNP |
| 13 | g.32371080A= | CA2082816464 | BRCA2 | c.8612A= (p.Glu2871=) c.8243A= (p.Glu2748=) c.1079A= (p.Glu360=) c.8620A= (n.8620A=) c.1177A= c.110A= (p.Glu37=) c.8516A= (p.Glu2839=) | |
| 13 | g.32371080A>C | CA387752928 | BRCA2 | c.8612A>C (p.Glu2871Ala) c.8243A>C (p.Glu2748Ala) c.1079A>C (p.Glu360Ala) c.8620A>C (n.8620A>C) c.1177A>C c.110A>C (p.Glu37Ala) c.8516A>C (p.Glu2839Ala) | ClinVar dbSNP |
| 13 | g.32371080A>G | CA387752930 | BRCA2 | c.8612A>G (p.Glu2871Gly) c.8243A>G (p.Glu2748Gly) c.1079A>G (p.Glu360Gly) c.8620A>G (n.8620A>G) c.1177A>G c.110A>G (p.Glu37Gly) c.8516A>G (p.Glu2839Gly) | ClinVar dbSNP |
| 13 | g.32371080A>T | CA387752932 | BRCA2 | c.8612A>T (p.Glu2871Val) c.8243A>T (p.Glu2748Val) c.1079A>T (p.Glu360Val) c.8620A>T (n.8620A>T) c.1177A>T c.110A>T (p.Glu37Val) c.8516A>T (p.Glu2839Val) | dbSNP |
| 13 | g.32371081G>A | CA483261561 | BRCA2 | c.8613G>A (p.Glu2871=) c.8244G>A (p.Glu2748=) c.1080G>A (p.Glu360=) c.8621G>A (n.8621G>A) c.1178G>A c.111G>A (p.Glu37=) c.8517G>A (p.Glu2839=) | ClinVar dbSNP |
| 13 | g.32371081G>C | CA387752934 | BRCA2 | c.8613G>C (p.Glu2871Asp) c.8244G>C (p.Glu2748Asp) c.1080G>C (p.Glu360Asp) c.8621G>C (n.8621G>C) c.1178G>C c.111G>C (p.Glu37Asp) c.8517G>C (p.Glu2839Asp) | ClinVar dbSNP |
| 13 | g.32371081G= | CA2082816478 | BRCA2 | c.8613G= (p.Glu2871=) c.8244G= (p.Glu2748=) c.1080G= (p.Glu360=) c.8621G= (n.8621G=) c.1178G= c.111G= (p.Glu37=) c.8517G= (p.Glu2839=) | |
| 13 | g.32371081G>T | CA387752936 | BRCA2 | c.8613G>T (p.Glu2871Asp) c.8244G>T (p.Glu2748Asp) c.1080G>T (p.Glu360Asp) c.8621G>T (n.8621G>T) c.1178G>T c.111G>T (p.Glu37Asp) c.8517G>T (p.Glu2839Asp) | dbSNP |
| 13 | g.32371081_32371082insT | CA1139770806 | BRCA2 | c.8613_8614insT (p.Glu2872Ter) c.8244_8245insT (p.Glu2749Ter) c.1080_1081insT (p.Glu361Ter) c.8621_8622insT (n.8621_8622insT) c.1178_1179insT c.111_112insT (p.Glu38Ter) c.8517_8518insT (p.Glu2840Ter) | |
| 13 | g.32371082G>A | CA387752940 | BRCA2 | c.8614G>A (p.Glu2872Lys) c.8245G>A (p.Glu2749Lys) c.1081G>A (p.Glu361Lys) c.8622G>A (n.8622G>A) c.1179G>A c.112G>A (p.Glu38Lys) c.8518G>A (p.Glu2840Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371082G>C | CA387752942 | BRCA2 | c.8614G>C (p.Glu2872Gln) c.8245G>C (p.Glu2749Gln) c.1081G>C (p.Glu361Gln) c.8622G>C (n.8622G>C) c.1179G>C c.112G>C (p.Glu38Gln) c.8518G>C (p.Glu2840Gln) | dbSNP |
| 13 | g.32371082G= | CA2082816490 | BRCA2 | c.8614G= (p.Glu2872=) c.8245G= (p.Glu2749=) c.1081G= (p.Glu361=) c.8622G= (n.8622G=) c.1179G= c.112G= (p.Glu38=) c.8518G= (p.Glu2840=) | |
| 13 | g.32371082G>T | CA387752938 | BRCA2 | c.8614G>T (p.Glu2872Ter) c.8245G>T (p.Glu2749Ter) c.1081G>T (p.Glu361Ter) c.8622G>T (n.8622G>T) c.1179G>T c.112G>T (p.Glu38Ter) c.8518G>T (p.Glu2840Ter) | ClinVar dbSNP |
| 13 | g.32371083A= | CA2082816496 | BRCA2 | c.8615A= (p.Glu2872=) c.8246A= (p.Glu2749=) c.1082A= (p.Glu361=) c.8623A= (n.8623A=) c.1180A= c.113A= (p.Glu38=) c.8519A= (p.Glu2840=) | |
| 13 | g.32371083A>C | CA387752943 | BRCA2 | c.8615A>C (p.Glu2872Ala) c.8246A>C (p.Glu2749Ala) c.1082A>C (p.Glu361Ala) c.8623A>C (n.8623A>C) c.1180A>C c.113A>C (p.Glu38Ala) c.8519A>C (p.Glu2840Ala) | |
| 13 | g.32371083A>G | CA387752944 | BRCA2 | c.8615A>G (p.Glu2872Gly) c.8246A>G (p.Glu2749Gly) c.1082A>G (p.Glu361Gly) c.8623A>G (n.8623A>G) c.1180A>G c.113A>G (p.Glu38Gly) c.8519A>G (p.Glu2840Gly) | ClinVar dbSNP |
| 13 | g.32371083A>T | CA387752945 | BRCA2 | c.8615A>T (p.Glu2872Val) c.8246A>T (p.Glu2749Val) c.1082A>T (p.Glu361Val) c.8623A>T (n.8623A>T) c.1180A>T c.113A>T (p.Glu38Val) c.8519A>T (p.Glu2840Val) | ClinVar dbSNP |
| 13 | g.32371084A>C | CA387752948 | BRCA2 | c.8616A>C (p.Glu2872Asp) c.8247A>C (p.Glu2749Asp) c.1083A>C (p.Glu361Asp) c.8624A>C (n.8624A>C) c.1181A>C c.114A>C (p.Glu38Asp) c.8520A>C (p.Glu2840Asp) | |
| 13 | g.32371084A>G | CA483261562 | BRCA2 | c.8616A>G (p.Glu2872=) c.8247A>G (p.Glu2749=) c.1083A>G (p.Glu361=) c.8624A>G (n.8624A>G) c.1181A>G c.114A>G (p.Glu38=) c.8520A>G (p.Glu2840=) | |
| 13 | g.32371084A>T | CA387752949 | BRCA2 | c.8616A>T (p.Glu2872Asp) c.8247A>T (p.Glu2749Asp) c.1083A>T (p.Glu361Asp) c.8624A>T (n.8624A>T) c.1181A>T c.114A>T (p.Glu38Asp) c.8520A>T (p.Glu2840Asp) | |
| 13 | g.32371085T>A | CA387752955 | BRCA2 | c.8617T>A (p.Phe2873Ile) c.8248T>A (p.Phe2750Ile) c.1084T>A (p.Phe362Ile) c.8625T>A (n.8625T>A) c.1182T>A c.115T>A (p.Phe39Ile) c.8521T>A (p.Phe2841Ile) | dbSNP |
| 13 | g.32371085T>C | CA387752951 | BRCA2 | c.8617T>C (p.Phe2873Leu) c.8248T>C (p.Phe2750Leu) c.1084T>C (p.Phe362Leu) c.8625T>C (n.8625T>C) c.1182T>C c.115T>C (p.Phe39Leu) c.8521T>C (p.Phe2841Leu) | |
| 13 | g.32371085T>G | CA387752953 | BRCA2 | c.8617T>G (p.Phe2873Val) c.8248T>G (p.Phe2750Val) c.1084T>G (p.Phe362Val) c.8625T>G (n.8625T>G) c.1182T>G c.115T>G (p.Phe39Val) c.8521T>G (p.Phe2841Val) | dbSNP |
| 13 | g.32371087dup | CA2727921503 | BRCA2 | c.8619dup (p.Glu2874Ter) c.8250dup (p.Glu2751Ter) c.1086dup (p.Glu363Ter) c.8627dup (n.8627dup) c.1184dup c.117dup (p.Glu40Ter) c.8523dup (p.Glu2842Ter) | dbSNP |
| 13 | g.32371086T>A | CA387752957 | BRCA2 | c.8618T>A (p.Phe2873Tyr) c.8249T>A (p.Phe2750Tyr) c.1085T>A (p.Phe362Tyr) c.8626T>A (n.8626T>A) c.1183T>A c.116T>A (p.Phe39Tyr) c.8522T>A (p.Phe2841Tyr) | dbSNP |
| 13 | g.32371086T>C | CA387752959 | BRCA2 | c.8618T>C (p.Phe2873Ser) c.8249T>C (p.Phe2750Ser) c.1085T>C (p.Phe362Ser) c.8626T>C (n.8626T>C) c.1183T>C c.116T>C (p.Phe39Ser) c.8522T>C (p.Phe2841Ser) | ClinVar |
| 13 | g.32371086T>G | CA025735 | BRCA2 | c.8618T>G (p.Phe2873Cys) c.8249T>G (p.Phe2750Cys) c.1085T>G (p.Phe362Cys) c.8626T>G (n.8626T>G) c.1183T>G c.116T>G (p.Phe39Cys) c.8522T>G (p.Phe2841Cys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371086T= | CA2082816504 | BRCA2 | c.8618T= (p.Phe2873=) c.8249T= (p.Phe2750=) c.1085T= (p.Phe362=) c.8626T= (n.8626T=) c.1183T= c.116T= (p.Phe39=) c.8522T= (p.Phe2841=) | |
| 13 | g.32371087T>A | CA6941263 | BRCA2 | c.8619T>A (p.Phe2873Leu) c.8250T>A (p.Phe2750Leu) c.1086T>A (p.Phe362Leu) c.8627T>A (n.8627T>A) c.1184T>A c.117T>A (p.Phe39Leu) c.8523T>A (p.Phe2841Leu) | dbSNP ExAC |
| 13 | g.32371087T>C | CA483261563 | BRCA2 | c.8619T>C (p.Phe2873=) c.8250T>C (p.Phe2750=) c.1086T>C (p.Phe362=) c.8627T>C (n.8627T>C) c.1184T>C c.117T>C (p.Phe39=) c.8523T>C (p.Phe2841=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32371087T>G | CA387752965 | BRCA2 | c.8619T>G (p.Phe2873Leu) c.8250T>G (p.Phe2750Leu) c.1086T>G (p.Phe362Leu) c.8627T>G (n.8627T>G) c.1184T>G c.117T>G (p.Phe39Leu) c.8523T>G (p.Phe2841Leu) | |
| 13 | g.32371087T= | CA2082816522 | BRCA2 | c.8619T= (p.Phe2873=) c.8250T= (p.Phe2750=) c.1086T= (p.Phe362=) c.8627T= (n.8627T=) c.1184T= c.117T= (p.Phe39=) c.8523T= (p.Phe2841=) | |
| 13 | g.32371088G>A | CA387752967 | BRCA2 | c.8620G>A (p.Glu2874Lys) c.8251G>A (p.Glu2751Lys) c.1087G>A (p.Glu363Lys) c.8628G>A (n.8628G>A) c.1185G>A c.118G>A (p.Glu40Lys) c.8524G>A (p.Glu2842Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371088G>C | CA387752970 | BRCA2 | c.8620G>C (p.Glu2874Gln) c.8251G>C (p.Glu2751Gln) c.1087G>C (p.Glu363Gln) c.8628G>C (n.8628G>C) c.1185G>C c.118G>C (p.Glu40Gln) c.8524G>C (p.Glu2842Gln) | dbSNP |
| 13 | g.32371088G= | CA2082816529 | BRCA2 | c.8620G= (p.Glu2874=) c.8251G= (p.Glu2751=) c.1087G= (p.Glu363=) c.8628G= (n.8628G=) c.1185G= c.118G= (p.Glu40=) c.8524G= (p.Glu2842=) | |
| 13 | g.32371088G>T | CA025736 | BRCA2 | c.8620G>T (p.Glu2874Ter) c.8251G>T (p.Glu2751Ter) c.1087G>T (p.Glu363Ter) c.8628G>T (n.8628G>T) c.1185G>T c.118G>T (p.Glu40Ter) c.8524G>T (p.Glu2842Ter) | ClinVar dbSNP |
| 13 | g.32371089A>C | CA387752971 | BRCA2 | c.8621A>C (p.Glu2874Ala) c.8252A>C (p.Glu2751Ala) c.1088A>C (p.Glu363Ala) c.8629A>C (n.8629A>C) c.1186A>C c.119A>C (p.Glu40Ala) c.8525A>C (p.Glu2842Ala) | |
| 13 | g.32371089A>G | CA387752974 | BRCA2 | c.8621A>G (p.Glu2874Gly) c.8252A>G (p.Glu2751Gly) c.1088A>G (p.Glu363Gly) c.8629A>G (n.8629A>G) c.1186A>G c.119A>G (p.Glu40Gly) c.8525A>G (p.Glu2842Gly) | dbSNP COSMIC COSMIC |
| 13 | g.32371089A>T | CA387752976 | BRCA2 | c.8621A>T (p.Glu2874Val) c.8252A>T (p.Glu2751Val) c.1088A>T (p.Glu363Val) c.8629A>T (n.8629A>T) c.1186A>T c.119A>T (p.Glu40Val) c.8525A>T (p.Glu2842Val) | dbSNP |
| 13 | g.32371090dup | CA2573149216 | BRCA2 | c.8622dup (p.Glu2875ArgfsTer3) c.8253dup (p.Glu2752ArgfsTer3) c.1089dup (p.Glu364ArgfsTer3) c.8630dup (n.8630dup) c.1187dup c.120dup (p.Glu41ArgfsTer3) c.8526dup (p.Glu2843ArgfsTer3) | ClinVar dbSNP |
| 13 | g.32371090del | CA2580087405 | BRCA2 | c.8622del (p.Glu2875AsnfsTer16) c.8622del (p.Glu2875AsnfsTer11) c.8253del (p.Glu2752AsnfsTer16) c.8622del (p.Glu2875AsnfsTer17) c.1089del (p.Glu364AsnfsTer16) c.8630del (n.8630del) c.1187del c.120del (p.Glu41AsnfsTer11) c.8526del (p.Glu2843AsnfsTer16) | ClinVar |
| 13 | g.32371090A>C | CA387752978 | BRCA2 | c.8622A>C (p.Glu2874Asp) c.8253A>C (p.Glu2751Asp) c.1089A>C (p.Glu363Asp) c.8630A>C (n.8630A>C) c.1187A>C c.120A>C (p.Glu40Asp) c.8526A>C (p.Glu2842Asp) | |
| 13 | g.32371090A>G | CA483261564 | BRCA2 | c.8622A>G (p.Glu2874=) c.8253A>G (p.Glu2751=) c.1089A>G (p.Glu363=) c.8630A>G (n.8630A>G) c.1187A>G c.120A>G (p.Glu40=) c.8526A>G (p.Glu2842=) | dbSNP |
| 13 | g.32371090A>T | CA387752979 | BRCA2 | c.8622A>T (p.Glu2874Asp) c.8253A>T (p.Glu2751Asp) c.1089A>T (p.Glu363Asp) c.8630A>T (n.8630A>T) c.1187A>T c.120A>T (p.Glu40Asp) c.8526A>T (p.Glu2842Asp) | dbSNP |
| 13 | g.32371091del | CA2580087407 | BRCA2 | c.8623del (p.Glu2875AsnfsTer16) c.8623del (p.Glu2875AsnfsTer11) c.8254del (p.Glu2752AsnfsTer16) c.8623del (p.Glu2875AsnfsTer17) c.1090del (p.Glu364AsnfsTer16) c.8631del (n.8631del) c.1188del c.121del (p.Glu41AsnfsTer11) c.8527del (p.Glu2843AsnfsTer16) | ClinVar |
| 13 | g.32371091G>A | CA387752980 | BRCA2 | c.8623G>A (p.Glu2875Lys) c.8254G>A (p.Glu2752Lys) c.1090G>A (p.Glu364Lys) c.8631G>A (n.8631G>A) c.1188G>A c.121G>A (p.Glu41Lys) c.8527G>A (p.Glu2843Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371091G>C | CA387752981 | BRCA2 | c.8623G>C (p.Glu2875Gln) c.8254G>C (p.Glu2752Gln) c.1090G>C (p.Glu364Gln) c.8631G>C (n.8631G>C) c.1188G>C c.121G>C (p.Glu41Gln) c.8527G>C (p.Glu2843Gln) | dbSNP |
| 13 | g.32371091G>T | CA387752982 | BRCA2 | c.8623G>T (p.Glu2875Ter) c.8254G>T (p.Glu2752Ter) c.1090G>T (p.Glu364Ter) c.8631G>T (n.8631G>T) c.1188G>T c.121G>T (p.Glu41Ter) c.8527G>T (p.Glu2843Ter) | dbSNP |
| 13 | g.32371092A>C | CA387752983 | BRCA2 | c.8624A>C (p.Glu2875Ala) c.8255A>C (p.Glu2752Ala) c.1091A>C (p.Glu364Ala) c.8632A>C (n.8632A>C) c.1189A>C c.122A>C (p.Glu41Ala) c.8528A>C (p.Glu2843Ala) | |
| 13 | g.32371092A>G | CA387752988 | BRCA2 | c.8624A>G (p.Glu2875Gly) c.8255A>G (p.Glu2752Gly) c.1091A>G (p.Glu364Gly) c.8632A>G (n.8632A>G) c.1189A>G c.122A>G (p.Glu41Gly) c.8528A>G (p.Glu2843Gly) | dbSNP |
| 13 | g.32371092A>T | CA387752992 | BRCA2 | c.8624A>T (p.Glu2875Val) c.8255A>T (p.Glu2752Val) c.1091A>T (p.Glu364Val) c.8632A>T (n.8632A>T) c.1189A>T c.122A>T (p.Glu41Val) c.8528A>T (p.Glu2843Val) | dbSNP |
| 13 | g.32371093A= | CA2082816540 | BRCA2 | c.8625A= (p.Glu2875=) c.8256A= (p.Glu2752=) c.1092A= (p.Glu364=) c.8633A= (n.8633A=) c.1190A= c.123A= (p.Glu41=) c.8529A= (p.Glu2843=) | |
| 13 | g.32371093A>C | CA387752997 | BRCA2 | c.8625A>C (p.Glu2875Asp) c.8256A>C (p.Glu2752Asp) c.1092A>C (p.Glu364Asp) c.8633A>C (n.8633A>C) c.1190A>C c.123A>C (p.Glu41Asp) c.8529A>C (p.Glu2843Asp) | ClinVar dbSNP |
| 13 | g.32371093A>G | CA483261565 | BRCA2 | c.8625A>G (p.Glu2875=) c.8256A>G (p.Glu2752=) c.1092A>G (p.Glu364=) c.8633A>G (n.8633A>G) c.1190A>G c.123A>G (p.Glu41=) c.8529A>G (p.Glu2843=) | ClinVar dbSNP |
| 13 | g.32371093A>T | CA387752995 | BRCA2 | c.8625A>T (p.Glu2875Asp) c.8256A>T (p.Glu2752Asp) c.1092A>T (p.Glu364Asp) c.8633A>T (n.8633A>T) c.1190A>T c.123A>T (p.Glu41Asp) c.8529A>T (p.Glu2843Asp) | |
| 13 | g.32371094C>A | CA387753000 | BRCA2 | c.8626C>A (p.His2876Asn) c.8257C>A (p.His2753Asn) c.1093C>A (p.His365Asn) c.8634C>A (n.8634C>A) c.1191C>A c.124C>A (p.His42Asn) c.8530C>A (p.His2844Asn) | |
| 13 | g.32371094C= | CA2082816543 | BRCA2 | c.8626C= (p.His2876=) c.8257C= (p.His2753=) c.1093C= (p.His365=) c.8634C= (n.8634C=) c.1191C= c.124C= (p.His42=) c.8530C= (p.His2844=) | |
| 13 | g.32371094C>G | CA387753002 | BRCA2 | c.8626C>G (p.His2876Asp) c.8257C>G (p.His2753Asp) c.1093C>G (p.His365Asp) c.8634C>G (n.8634C>G) c.1191C>G c.124C>G (p.His42Asp) c.8530C>G (p.His2844Asp) | dbSNP |
| 13 | g.32371094C>T | CA6941264 | BRCA2 | c.8626C>T (p.His2876Tyr) c.8257C>T (p.His2753Tyr) c.1093C>T (p.His365Tyr) c.8634C>T (n.8634C>T) c.1191C>T c.124C>T (p.His42Tyr) c.8530C>T (p.His2844Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371095del | CA2697551762 | BRCA2 | c.8627del (p.His2876LeufsTer15) c.8627del (p.His2876LeufsTer10) c.8258del (p.His2753LeufsTer15) c.8627del (p.His2876LeufsTer16) c.1094del (p.His365LeufsTer15) c.8635del (n.8635del) c.1192del c.125del (p.His42LeufsTer10) c.8531del (p.His2844LeufsTer15) | ClinVar |
| 13 | g.32371095A= | CA2082816550 | BRCA2 | c.8627A= (p.His2876=) c.8258A= (p.His2753=) c.1094A= (p.His365=) c.8635A= (n.8635A=) c.1192A= c.125A= (p.His42=) c.8531A= (p.His2844=) | |
| 13 | g.32371095A>C | CA16614013 | BRCA2 | c.8627A>C (p.His2876Pro) c.8258A>C (p.His2753Pro) c.1094A>C (p.His365Pro) c.8635A>C (n.8635A>C) c.1192A>C c.125A>C (p.His42Pro) c.8531A>C (p.His2844Pro) | ClinVar dbSNP |
| 13 | g.32371095A>G | CA387753007 | BRCA2 | c.8627A>G (p.His2876Arg) c.8258A>G (p.His2753Arg) c.1094A>G (p.His365Arg) c.8635A>G (n.8635A>G) c.1192A>G c.125A>G (p.His42Arg) c.8531A>G (p.His2844Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32371095A>T | CA387753005 | BRCA2 | c.8627A>T (p.His2876Leu) c.8258A>T (p.His2753Leu) c.1094A>T (p.His365Leu) c.8635A>T (n.8635A>T) c.1192A>T c.125A>T (p.His42Leu) c.8531A>T (p.His2844Leu) | |
| 13 | g.32371096T>A | CA387753009 | BRCA2 | c.8628T>A (p.His2876Gln) c.8259T>A (p.His2753Gln) c.1095T>A (p.His365Gln) c.8636T>A (n.8636T>A) c.1193T>A c.126T>A (p.His42Gln) c.8532T>A (p.His2844Gln) | dbSNP |
| 13 | g.32371096T>C | CA483261566 | BRCA2 | c.8628T>C (p.His2876=) c.8259T>C (p.His2753=) c.1095T>C (p.His365=) c.8636T>C (n.8636T>C) c.1193T>C c.126T>C (p.His42=) c.8532T>C (p.His2844=) | ClinVar |
| 13 | g.32371096T>G | CA387753011 | BRCA2 | c.8628T>G (p.His2876Gln) c.8259T>G (p.His2753Gln) c.1095T>G (p.His365Gln) c.8636T>G (n.8636T>G) c.1193T>G c.126T>G (p.His42Gln) c.8532T>G (p.His2844Gln) | |
| 13 | g.32371096_32371097delinsTG | CA2082816552 | BRCA2 | c.8628_8629delinsTG (p.His2876=) c.8259_8260delinsTG (p.His2753=) c.1095_1096delinsTG (p.His365=) c.8636_8637delinsTG (n.8636_8637delinsTG) c.1193_1194delinsTG c.126_127delinsTG (p.His42=) c.8532_8533delinsTG (p.His2844=) | |
| 13 | g.32371097del | CA1139663174 | BRCA2 | c.8629del (p.Glu2877LysfsTer14) c.8629del (p.Glu2877LysfsTer9) c.8260del (p.Glu2754LysfsTer14) c.8629del (p.Glu2877LysfsTer15) c.1096del (p.Glu366LysfsTer14) c.8637del (n.8637del) c.1194del c.127del (p.Glu43LysfsTer9) c.8533del (p.Glu2845LysfsTer14) | ClinVar dbSNP |
| 13 | g.32371097G>A | CA387753012 | BRCA2 | c.8629G>A (p.Glu2877Lys) c.8260G>A (p.Glu2754Lys) c.1096G>A (p.Glu366Lys) c.8637G>A (n.8637G>A) c.1194G>A c.127G>A (p.Glu43Lys) c.8533G>A (p.Glu2845Lys) | ClinVar dbSNP |
| 13 | g.32371097G>C | CA387753014 | BRCA2 | c.8629G>C (p.Glu2877Gln) c.8260G>C (p.Glu2754Gln) c.1096G>C (p.Glu366Gln) c.8637G>C (n.8637G>C) c.1194G>C c.127G>C (p.Glu43Gln) c.8533G>C (p.Glu2845Gln) | dbSNP gnomAD v4 |
| 13 | g.32371097G= | CA2082816563 | BRCA2 | c.8629G= (p.Glu2877=) c.8260G= (p.Glu2754=) c.1096G= (p.Glu366=) c.8637G= (n.8637G=) c.1194G= c.127G= (p.Glu43=) c.8533G= (p.Glu2845=) | |
| 13 | g.32371097G>T | CA025737 | BRCA2 | c.8629G>T (p.Glu2877Ter) c.8260G>T (p.Glu2754Ter) c.1096G>T (p.Glu366Ter) c.8637G>T (n.8637G>T) c.1194G>T c.127G>T (p.Glu43Ter) c.8533G>T (p.Glu2845Ter) | ClinVar dbSNP |
| 13 | g.32371098A= | CA2082816569 | BRCA2 | c.8630A= (p.Glu2877=) c.8261A= (p.Glu2754=) c.1097A= (p.Glu366=) c.8638A= (n.8638A=) c.1195A= c.128A= (p.Glu43=) c.8534A= (p.Glu2845=) | |
| 13 | g.32371098A>C | CA387753015 | BRCA2 | c.8630A>C (p.Glu2877Ala) c.8261A>C (p.Glu2754Ala) c.1097A>C (p.Glu366Ala) c.8638A>C (n.8638A>C) c.1195A>C c.128A>C (p.Glu43Ala) c.8534A>C (p.Glu2845Ala) | |
| 13 | g.32371098A>G | CA16619780 | BRCA2 | c.8630A>G (p.Glu2877Gly) c.8261A>G (p.Glu2754Gly) c.1097A>G (p.Glu366Gly) c.8638A>G (n.8638A>G) c.1195A>G c.128A>G (p.Glu43Gly) c.8534A>G (p.Glu2845Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32371098A>T | CA387753017 | BRCA2 | c.8630A>T (p.Glu2877Val) c.8261A>T (p.Glu2754Val) c.1097A>T (p.Glu366Val) c.8638A>T (n.8638A>T) c.1195A>T c.128A>T (p.Glu43Val) c.8534A>T (p.Glu2845Val) | |
| 13 | g.32371099A= | CA2082816580 | BRCA2 | c.8631A= (p.Glu2877=) c.8262A= (p.Glu2754=) c.1098A= (p.Glu366=) c.8639A= (n.8639A=) c.1196A= c.129A= (p.Glu43=) c.8535A= (p.Glu2845=) | |
| 13 | g.32371099A>C | CA387753019 | BRCA2 | c.8631A>C (p.Glu2877Asp) c.8262A>C (p.Glu2754Asp) c.1098A>C (p.Glu366Asp) c.8639A>C (n.8639A>C) c.1196A>C c.129A>C (p.Glu43Asp) c.8535A>C (p.Glu2845Asp) | |
| 13 | g.32371099A>G | CA16619781 | BRCA2 | c.8631A>G (p.Glu2877=) c.8262A>G (p.Glu2754=) c.1098A>G (p.Glu366=) c.8639A>G (n.8639A>G) c.1196A>G c.129A>G (p.Glu43=) c.8535A>G (p.Glu2845=) | ClinVar dbSNP |
| 13 | g.32371099A>T | CA387753022 | BRCA2 | c.8631A>T (p.Glu2877Asp) c.8262A>T (p.Glu2754Asp) c.1098A>T (p.Glu366Asp) c.8639A>T (n.8639A>T) c.1196A>T c.129A>T (p.Glu43Asp) c.8535A>T (p.Glu2845Asp) | dbSNP |
| 13 | g.32371100G>A | CA025745 | BRCA2 | c.8632G>A (p.Glu2878Lys) c.8632G>A (p.Val2878Ile) c.8263G>A (p.Glu2755Lys) c.1099G>A (p.Glu367Lys) c.8640G>A (n.8640G>A) c.1197G>A c.130G>A (p.Val44Ile) c.8536G>A (p.Glu2846Lys) | ClinVar dbSNP |
| 13 | g.32371100G>C | CA387753025 | BRCA2 | c.8632G>C (p.Glu2878Gln) c.8632G>C (p.Val2878Leu) c.8263G>C (p.Glu2755Gln) c.1099G>C (p.Glu367Gln) c.8640G>C (n.8640G>C) c.1197G>C c.130G>C (p.Val44Leu) c.8536G>C (p.Glu2846Gln) | ClinVar dbSNP |
| 13 | g.32371100G= | CA2082816587 | BRCA2 | c.8632G= (p.Glu2878=) c.8632G= (p.Val2878=) c.8263G= (p.Glu2755=) c.1099G= (p.Glu367=) c.8640G= (n.8640G=) c.1197G= c.130G= (p.Val44=) c.8536G= (p.Glu2846=) | |
| 13 | g.32371100G>T | CA387753027 | BRCA2 | c.8632G>T (p.Glu2878Ter) c.8632G>T (p.Val2878Phe) c.8263G>T (p.Glu2755Ter) c.1099G>T (p.Glu367Ter) c.8640G>T (n.8640G>T) c.1197G>T c.130G>T (p.Val44Phe) c.8536G>T (p.Glu2846Ter) | |
| 13 | g.32371101G>A | CA025740 | BRCA2 | c.8632+1G>A (n.8632+1G>A) c.8263+1G>A (n.8263+1G>A) c.1099+1G>A (n.1099+1G>A) c.8640+1G>A (n.8640+1G>A) c.1197+1G>A c.130+1G>A (n.130+1G>A) c.8536+1G>A (n.8536+1G>A) | ClinVar dbSNP |
| 13 | g.32371101G>C | CA387753031 | BRCA2 | c.8632+1G>C (n.8632+1G>C) c.8263+1G>C (n.8263+1G>C) c.1099+1G>C (n.1099+1G>C) c.8640+1G>C (n.8640+1G>C) c.1197+1G>C c.130+1G>C (n.130+1G>C) c.8536+1G>C (n.8536+1G>C) | dbSNP |
| 13 | g.32371101G= | CA2082816598 | BRCA2 | c.8632+1G= (n.8632+1G=) c.8263+1G= (n.8263+1G=) c.1099+1G= (n.1099+1G=) c.8640+1G= (n.8640+1G=) c.1197+1G= c.130+1G= (n.130+1G=) c.8536+1G= (n.8536+1G=) | |
| 13 | g.32371101G>T | CA025741 | BRCA2 | c.8632+1G>T (n.8632+1G>T) c.8263+1G>T (n.8263+1G>T) c.1099+1G>T (n.1099+1G>T) c.8640+1G>T (n.8640+1G>T) c.1197+1G>T c.130+1G>T (n.130+1G>T) c.8536+1G>T (n.8536+1G>T) | ClinVar dbSNP |
| 13 | g.32371102T>A | CA387753033 | BRCA2 | c.8632+2T>A (n.8632+2T>A) c.8263+2T>A (n.8263+2T>A) c.1099+2T>A (n.1099+2T>A) c.8640+2T>A (n.8640+2T>A) c.1197+2T>A c.130+2T>A (n.130+2T>A) c.8536+2T>A (n.8536+2T>A) | |
| 13 | g.32371102T>C | CA387753034 | BRCA2 | c.8632+2T>C (n.8632+2T>C) c.8263+2T>C (n.8263+2T>C) c.1099+2T>C (n.1099+2T>C) c.8640+2T>C (n.8640+2T>C) c.1197+2T>C c.130+2T>C (n.130+2T>C) c.8536+2T>C (n.8536+2T>C) | ClinVar dbSNP |
| 13 | g.32371102T>G | CA025743 | BRCA2 | c.8632+2T>G (n.8632+2T>G) c.8263+2T>G (n.8263+2T>G) c.1099+2T>G (n.1099+2T>G) c.8640+2T>G (n.8640+2T>G) c.1197+2T>G c.130+2T>G (n.130+2T>G) c.8536+2T>G (n.8536+2T>G) | ClinVar dbSNP |
| 13 | g.32371102T= | CA2082816648 | BRCA2 | c.8632+2T= (n.8632+2T=) c.8263+2T= (n.8263+2T=) c.1099+2T= (n.1099+2T=) c.8640+2T= (n.8640+2T=) c.1197+2T= c.130+2T= (n.130+2T=) c.8536+2T= (n.8536+2T=) | |
| 13 | g.32371103A= | CA2082816655 | BRCA2 | c.8632+3A= (n.8632+3A=) c.8263+3A= (n.8263+3A=) c.1099+3A= (n.1099+3A=) c.8640+3A= (n.8640+3A=) c.1197+3A= c.130+3A= (n.130+3A=) c.8536+3A= (n.8536+3A=) | |
| 13 | g.32371103A>T | CA658656388 | BRCA2 | c.8632+3A>T (n.8632+3A>T) c.8263+3A>T (n.8263+3A>T) c.1099+3A>T (n.1099+3A>T) c.8640+3A>T (n.8640+3A>T) c.1197+3A>T c.130+3A>T (n.130+3A>T) c.8536+3A>T (n.8536+3A>T) | ClinVar dbSNP |
| 13 | g.32371103_32371104insT | CA2573149217 | BRCA2 | c.8632+3_8632+4insT (n.8632+3_8632+4insT) c.8263+3_8263+4insT (n.8263+3_8263+4insT) c.1099+3_1099+4insT (n.1099+3_1099+4insT) c.8640+3_8640+4insT (n.8640+3_8640+4insT) c.1197+3_1197+4insT c.130+3_130+4insT (n.130+3_130+4insT) c.8536+3_8536+4insT (n.8536+3_8536+4insT) | ClinVar dbSNP |
| 13 | g.32371104A= | CA2082816656 | BRCA2 | c.8632+4A= (n.8632+4A=) c.8263+4A= (n.8263+4A=) c.1099+4A= (n.1099+4A=) c.8640+4A= (n.8640+4A=) c.1197+4A= c.130+4A= (n.130+4A=) c.8536+4A= (n.8536+4A=) | |
| 13 | g.32371104A>G | CA2082816658 | BRCA2 | c.8632+4A>G (n.8632+4A>G) c.8263+4A>G (n.8263+4A>G) c.1099+4A>G (n.1099+4A>G) c.8640+4A>G (n.8640+4A>G) c.1197+4A>G c.130+4A>G (n.130+4A>G) c.8536+4A>G (n.8536+4A>G) | dbSNP |
| 13 | g.32371105A= | CA2082816661 | BRCA2 | c.8632+5A= (n.8632+5A=) c.8263+5A= (n.8263+5A=) c.1099+5A= (n.1099+5A=) c.8640+5A= (n.8640+5A=) c.1197+5A= c.130+5A= (n.130+5A=) c.8536+5A= (n.8536+5A=) | |
| 13 | g.32371105A>G | CA6941265 | BRCA2 | c.8632+5A>G (n.8632+5A>G) c.8263+5A>G (n.8263+5A>G) c.1099+5A>G (n.1099+5A>G) c.8640+5A>G (n.8640+5A>G) c.1197+5A>G c.130+5A>G (n.130+5A>G) c.8536+5A>G (n.8536+5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371105A>T | CA2727840319 | BRCA2 | c.8632+5A>T (n.8632+5A>T) c.8263+5A>T (n.8263+5A>T) c.1099+5A>T (n.1099+5A>T) c.8640+5A>T (n.8640+5A>T) c.1197+5A>T c.130+5A>T (n.130+5A>T) c.8536+5A>T (n.8536+5A>T) | dbSNP |
| 13 | g.32371106A= | CA2082816671 | BRCA2 | c.8632+6A= (n.8632+6A=) c.8263+6A= (n.8263+6A=) c.1099+6A= (n.1099+6A=) c.8640+6A= (n.8640+6A=) c.1197+6A= c.130+6A= (n.130+6A=) c.8536+6A= (n.8536+6A=) | |
| 13 | g.32371106A>G | CA025744 | BRCA2 | c.8632+6A>G (n.8632+6A>G) c.8263+6A>G (n.8263+6A>G) c.1099+6A>G (n.1099+6A>G) c.8640+6A>G (n.8640+6A>G) c.1197+6A>G c.130+6A>G (n.130+6A>G) c.8536+6A>G (n.8536+6A>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371107T>A | CA2727874197 | BRCA2 | c.8632+7T>A (n.8632+7T>A) c.8263+7T>A (n.8263+7T>A) c.1099+7T>A (n.1099+7T>A) c.8640+7T>A (n.8640+7T>A) c.1197+7T>A c.130+7T>A (n.130+7T>A) c.8536+7T>A (n.8536+7T>A) | dbSNP |
| 13 | g.32371107T>C | CA2082816681 | BRCA2 | c.8632+7T>C (n.8632+7T>C) c.8263+7T>C (n.8263+7T>C) c.1099+7T>C (n.1099+7T>C) c.8640+7T>C (n.8640+7T>C) c.1197+7T>C c.130+7T>C (n.130+7T>C) c.8536+7T>C (n.8536+7T>C) | dbSNP |
| 13 | g.32371107T>G | CA2727874196 | BRCA2 | c.8632+7T>G (n.8632+7T>G) c.8263+7T>G (n.8263+7T>G) c.1099+7T>G (n.1099+7T>G) c.8640+7T>G (n.8640+7T>G) c.1197+7T>G c.130+7T>G (n.130+7T>G) c.8536+7T>G (n.8536+7T>G) | dbSNP |
| 13 | g.32371107T= | CA2082816679 | BRCA2 | c.8632+7T= (n.8632+7T=) c.8263+7T= (n.8263+7T=) c.1099+7T= (n.1099+7T=) c.8640+7T= (n.8640+7T=) c.1197+7T= c.130+7T= (n.130+7T=) c.8536+7T= (n.8536+7T=) | |
| 13 | g.32371108T>C | CA1139663175 | BRCA2 | c.8632+8T>C (n.8632+8T>C) c.8263+8T>C (n.8263+8T>C) c.1099+8T>C (n.1099+8T>C) c.8640+8T>C (n.8640+8T>C) c.1197+8T>C c.130+8T>C (n.130+8T>C) c.8536+8T>C (n.8536+8T>C) | ClinVar dbSNP |
| 13 | g.32371108T>G | CA2727912853 | BRCA2 | c.8632+8T>G (n.8632+8T>G) c.8263+8T>G (n.8263+8T>G) c.1099+8T>G (n.1099+8T>G) c.8640+8T>G (n.8640+8T>G) c.1197+8T>G c.130+8T>G (n.130+8T>G) c.8536+8T>G (n.8536+8T>G) | dbSNP |
| 13 | g.32371108T= | CA2082816685 | BRCA2 | c.8632+8T= (n.8632+8T=) c.8263+8T= (n.8263+8T=) c.1099+8T= (n.1099+8T=) c.8640+8T= (n.8640+8T=) c.1197+8T= c.130+8T= (n.130+8T=) c.8536+8T= (n.8536+8T=) | |
| 13 | g.32371109A>C | CA2697551763 | BRCA2 | c.8632+9A>C (n.8632+9A>C) c.8263+9A>C (n.8263+9A>C) c.1099+9A>C (n.1099+9A>C) c.8640+9A>C (n.8640+9A>C) c.1197+9A>C c.130+9A>C (n.130+9A>C) c.8536+9A>C (n.8536+9A>C) | ClinVar |
| 13 | g.32371110G>A | CA697345366 | BRCA2 | c.8632+10G>A (n.8632+10G>A) c.8263+10G>A (n.8263+10G>A) c.1099+10G>A (n.1099+10G>A) c.8640+10G>A (n.8640+10G>A) c.1197+10G>A c.130+10G>A (n.130+10G>A) c.8536+10G>A (n.8536+10G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371110G= | CA2082816690 | BRCA2 | c.8632+10G= (n.8632+10G=) c.8263+10G= (n.8263+10G=) c.1099+10G= (n.1099+10G=) c.8640+10G= (n.8640+10G=) c.1197+10G= c.130+10G= (n.130+10G=) c.8536+10G= (n.8536+10G=) | |
| 13 | g.32371111T>A | CA2727921969 | BRCA2 | c.8632+11T>A (n.8632+11T>A) c.8263+11T>A (n.8263+11T>A) c.1099+11T>A (n.1099+11T>A) c.8640+11T>A (n.8640+11T>A) c.1197+11T>A c.130+11T>A (n.130+11T>A) c.8536+11T>A (n.8536+11T>A) | dbSNP |
| 13 | g.32371111T= | CA2082816699 | BRCA2 | c.8632+11T= (n.8632+11T=) c.8263+11T= (n.8263+11T=) c.1099+11T= (n.1099+11T=) c.8640+11T= (n.8640+11T=) c.1197+11T= c.130+11T= (n.130+11T=) c.8536+11T= (n.8536+11T=) | |
| 13 | g.32371111_32371118delinsTTATATGG | CA2082816702 | BRCA2 | c.8632+11_8632+18delinsTTATATGG (n.8632+11_8632+18delinsTTATATGG) c.8263+11_8263+18delinsTTATATGG (n.8263+11_8263+18delinsTTATATGG) c.1099+11_1099+18delinsTTATATGG (n.1099+11_1099+18delinsTTATATGG) c.8640+11_8640+18delinsTTATATGG (n.8640+11_8640+18delinsTTATATGG) c.1197+11_1197+18delinsTTATATGG c.130+11_130+18delinsTTATATGG (n.130+11_130+18delinsTTATATGG) c.8536+11_8536+18delinsTTATATGG (n.8536+11_8536+18delinsTTATATGG) | |
| 13 | g.32371111_32371112insA | CA697345367 | BRCA2 | c.8632+11_8632+12insA (n.8632+11_8632+12insA) c.8263+11_8263+12insA (n.8263+11_8263+12insA) c.1099+11_1099+12insA (n.1099+11_1099+12insA) c.8640+11_8640+12insA (n.8640+11_8640+12insA) c.1197+11_1197+12insA c.130+11_130+12insA (n.130+11_130+12insA) c.8536+11_8536+12insA (n.8536+11_8536+12insA) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371112T>A | CA2727921998 | BRCA2 | c.8632+12T>A (n.8632+12T>A) c.8263+12T>A (n.8263+12T>A) c.1099+12T>A (n.1099+12T>A) c.8640+12T>A (n.8640+12T>A) c.1197+12T>A c.130+12T>A (n.130+12T>A) c.8536+12T>A (n.8536+12T>A) | dbSNP |
| 13 | g.32371112T>G | CA2580087408 | BRCA2 | c.8632+12T>G (n.8632+12T>G) c.8263+12T>G (n.8263+12T>G) c.1099+12T>G (n.1099+12T>G) c.8640+12T>G (n.8640+12T>G) c.1197+12T>G c.130+12T>G (n.130+12T>G) c.8536+12T>G (n.8536+12T>G) | ClinVar |
| 13 | g.32371112_32371118delinsATATA | CA658656389 | BRCA2 | c.8632+12_8632+18delinsATATA (n.8632+12_8632+18delinsATATA) c.8263+12_8263+18delinsATATA (n.8263+12_8263+18delinsATATA) c.1099+12_1099+18delinsATATA (n.1099+12_1099+18delinsATATA) c.8640+12_8640+18delinsATATA (n.8640+12_8640+18delinsATATA) c.1197+12_1197+18delinsATATA c.130+12_130+18delinsATATA (n.130+12_130+18delinsATATA) c.8536+12_8536+18delinsATATA (n.8536+12_8536+18delinsATATA) | ClinVar dbSNP |
| 13 | g.32371113A= | CA2082816713 | BRCA2 | c.8632+13A= (n.8632+13A=) c.8263+13A= (n.8263+13A=) c.1099+13A= (n.1099+13A=) c.8640+13A= (n.8640+13A=) c.1197+13A= c.130+13A= (n.130+13A=) c.8536+13A= (n.8536+13A=) | |
| 13 | g.32371113A>G | CA891843900 | BRCA2 | c.8632+13A>G (n.8632+13A>G) c.8263+13A>G (n.8263+13A>G) c.1099+13A>G (n.1099+13A>G) c.8640+13A>G (n.8640+13A>G) c.1197+13A>G c.130+13A>G (n.130+13A>G) c.8536+13A>G (n.8536+13A>G) | ClinVar dbSNP |
| 13 | g.32371113A>T | CA2575388010 | BRCA2 | c.8632+13A>T (n.8632+13A>T) c.8263+13A>T (n.8263+13A>T) c.1099+13A>T (n.1099+13A>T) c.8640+13A>T (n.8640+13A>T) c.1197+13A>T c.130+13A>T (n.130+13A>T) c.8536+13A>T (n.8536+13A>T) | |
| 13 | g.32371114T>A | CA2727839142 | BRCA2 | c.8632+14T>A (n.8632+14T>A) c.8263+14T>A (n.8263+14T>A) c.1099+14T>A (n.1099+14T>A) c.8640+14T>A (n.8640+14T>A) c.1197+14T>A c.130+14T>A (n.130+14T>A) c.8536+14T>A (n.8536+14T>A) | dbSNP |
| 13 | g.32371114T>C | CA025739 | BRCA2 | c.8632+14T>C (n.8632+14T>C) c.8263+14T>C (n.8263+14T>C) c.1099+14T>C (n.1099+14T>C) c.8640+14T>C (n.8640+14T>C) c.1197+14T>C c.130+14T>C (n.130+14T>C) c.8536+14T>C (n.8536+14T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371114T= | CA2082816718 | BRCA2 | c.8632+14T= (n.8632+14T=) c.8263+14T= (n.8263+14T=) c.1099+14T= (n.1099+14T=) c.8640+14T= (n.8640+14T=) c.1197+14T= c.130+14T= (n.130+14T=) c.8536+14T= (n.8536+14T=) | |
| 13 | g.32371115A= | CA2082816733 | BRCA2 | c.8632+15A= (n.8632+15A=) c.8263+15A= (n.8263+15A=) c.1099+15A= (n.1099+15A=) c.8640+15A= (n.8640+15A=) c.1197+15A= c.130+15A= (n.130+15A=) c.8536+15A= (n.8536+15A=) | |
| 13 | g.32371115A>G | CA913188618 | BRCA2 | c.8632+15A>G (n.8632+15A>G) c.8263+15A>G (n.8263+15A>G) c.1099+15A>G (n.1099+15A>G) c.8640+15A>G (n.8640+15A>G) c.1197+15A>G c.130+15A>G (n.130+15A>G) c.8536+15A>G (n.8536+15A>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371115A>T | CA2727874199 | BRCA2 | c.8632+15A>T (n.8632+15A>T) c.8263+15A>T (n.8263+15A>T) c.1099+15A>T (n.1099+15A>T) c.8640+15A>T (n.8640+15A>T) c.1197+15A>T c.130+15A>T (n.130+15A>T) c.8536+15A>T (n.8536+15A>T) | dbSNP |
| 13 | g.32371115_32371118delinsATGG | CA2082816731 | BRCA2 | c.8632+15_8632+18delinsATGG (n.8632+15_8632+18delinsATGG) c.8263+15_8263+18delinsATGG (n.8263+15_8263+18delinsATGG) c.1099+15_1099+18delinsATGG (n.1099+15_1099+18delinsATGG) c.8640+15_8640+18delinsATGG (n.8640+15_8640+18delinsATGG) c.1197+15_1197+18delinsATGG c.130+15_130+18delinsATGG (n.130+15_130+18delinsATGG) c.8536+15_8536+18delinsATGG (n.8536+15_8536+18delinsATGG) | |
| 13 | g.32371116T>A | CA2082816745 | BRCA2 | c.8632+16T>A (n.8632+16T>A) c.8263+16T>A (n.8263+16T>A) c.1099+16T>A (n.1099+16T>A) c.8640+16T>A (n.8640+16T>A) c.1197+16T>A c.130+16T>A (n.130+16T>A) c.8536+16T>A (n.8536+16T>A) | dbSNP |
| 13 | g.32371116T= | CA2082816740 | BRCA2 | c.8632+16T= (n.8632+16T=) c.8263+16T= (n.8263+16T=) c.1099+16T= (n.1099+16T=) c.8640+16T= (n.8640+16T=) c.1197+16T= c.130+16T= (n.130+16T=) c.8536+16T= (n.8536+16T=) | |
| 13 | g.32371117_32371119del | CA697345375 | BRCA2 | c.8632+17_8632+19del (n.8632+17_8632+19del) c.8263+17_8263+19del (n.8263+17_8263+19del) c.1099+17_1099+19del (n.1099+17_1099+19del) c.8640+17_8640+19del (n.8640+17_8640+19del) c.1197+17_1197+19del c.130+17_130+19del (n.130+17_130+19del) c.8536+17_8536+19del (n.8536+17_8536+19del) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371117G>A | CA2082816755 | BRCA2 | c.8632+17G>A (n.8632+17G>A) c.8263+17G>A (n.8263+17G>A) c.1099+17G>A (n.1099+17G>A) c.8640+17G>A (n.8640+17G>A) c.1197+17G>A c.130+17G>A (n.130+17G>A) c.8536+17G>A (n.8536+17G>A) | dbSNP |
| 13 | g.32371117G>C | CA658656390 | BRCA2 | c.8632+17G>C (n.8632+17G>C) c.8263+17G>C (n.8263+17G>C) c.1099+17G>C (n.1099+17G>C) c.8640+17G>C (n.8640+17G>C) c.1197+17G>C c.130+17G>C (n.130+17G>C) c.8536+17G>C (n.8536+17G>C) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371117G= | CA2082816750 | BRCA2 | c.8632+17G= (n.8632+17G=) c.8263+17G= (n.8263+17G=) c.1099+17G= (n.1099+17G=) c.8640+17G= (n.8640+17G=) c.1197+17G= c.130+17G= (n.130+17G=) c.8536+17G= (n.8536+17G=) | |
| 13 | g.32371117G>T | CA2727873239 | BRCA2 | c.8632+17G>T (n.8632+17G>T) c.8263+17G>T (n.8263+17G>T) c.1099+17G>T (n.1099+17G>T) c.8640+17G>T (n.8640+17G>T) c.1197+17G>T c.130+17G>T (n.130+17G>T) c.8536+17G>T (n.8536+17G>T) | dbSNP |
| 13 | g.32371118del | CA2727922006 | BRCA2 | c.8632+18del (n.8632+18del) c.8263+18del (n.8263+18del) c.1099+18del (n.1099+18del) c.8640+18del (n.8640+18del) c.1197+18del c.130+18del (n.130+18del) c.8536+18del (n.8536+18del) | dbSNP |
| 13 | g.32371118G>A | CA6941266 | BRCA2 | c.8632+18G>A (n.8632+18G>A) c.8263+18G>A (n.8263+18G>A) c.1099+18G>A (n.1099+18G>A) c.8640+18G>A (n.8640+18G>A) c.1197+18G>A c.130+18G>A (n.130+18G>A) c.8536+18G>A (n.8536+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371118G>C | CA2727840321 | BRCA2 | c.8632+18G>C (n.8632+18G>C) c.8263+18G>C (n.8263+18G>C) c.1099+18G>C (n.1099+18G>C) c.8640+18G>C (n.8640+18G>C) c.1197+18G>C c.130+18G>C (n.130+18G>C) c.8536+18G>C (n.8536+18G>C) | dbSNP |
| 13 | g.32371118G= | CA2082816760 | BRCA2 | c.8632+18G= (n.8632+18G=) c.8263+18G= (n.8263+18G=) c.1099+18G= (n.1099+18G=) c.8640+18G= (n.8640+18G=) c.1197+18G= c.130+18G= (n.130+18G=) c.8536+18G= (n.8536+18G=) | |
| 13 | g.32371118G>T | CA2727840320 | BRCA2 | c.8632+18G>T (n.8632+18G>T) c.8263+18G>T (n.8263+18G>T) c.1099+18G>T (n.1099+18G>T) c.8640+18G>T (n.8640+18G>T) c.1197+18G>T c.130+18G>T (n.130+18G>T) c.8536+18G>T (n.8536+18G>T) | dbSNP |
| 13 | g.32371119T>A | CA2622601310 | BRCA2 | c.8632+19T>A (n.8632+19T>A) c.8263+19T>A (n.8263+19T>A) c.1099+19T>A (n.1099+19T>A) c.8640+19T>A (n.8640+19T>A) c.1197+19T>A c.130+19T>A (n.130+19T>A) c.8536+19T>A (n.8536+19T>A) | dbSNP gnomAD v4 |
| 13 | g.32371119T>C | CA2580087409 | BRCA2 | c.8632+19T>C (n.8632+19T>C) c.8263+19T>C (n.8263+19T>C) c.1099+19T>C (n.1099+19T>C) c.8640+19T>C (n.8640+19T>C) c.1197+19T>C c.130+19T>C (n.130+19T>C) c.8536+19T>C (n.8536+19T>C) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371119T>G | CA2727922064 | BRCA2 | c.8632+19T>G (n.8632+19T>G) c.8263+19T>G (n.8263+19T>G) c.1099+19T>G (n.1099+19T>G) c.8640+19T>G (n.8640+19T>G) c.1197+19T>G c.130+19T>G (n.130+19T>G) c.8536+19T>G (n.8536+19T>G) | dbSNP |
| 13 | g.32371120A= | CA2082816766 | BRCA2 | c.8632+20A= (n.8632+20A=) c.8263+20A= (n.8263+20A=) c.1099+20A= (n.1099+20A=) c.8640+20A= (n.8640+20A=) c.1197+20A= c.130+20A= (n.130+20A=) c.8536+20A= (n.8536+20A=) | |
| 13 | g.32371120A>G | CA609454005 | BRCA2 | c.8632+20A>G (n.8632+20A>G) c.8263+20A>G (n.8263+20A>G) c.1099+20A>G (n.1099+20A>G) c.8640+20A>G (n.8640+20A>G) c.1197+20A>G c.130+20A>G (n.130+20A>G) c.8536+20A>G (n.8536+20A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32371120A>T | CA2573149218 | BRCA2 | c.8632+20A>T (n.8632+20A>T) c.8263+20A>T (n.8263+20A>T) c.1099+20A>T (n.1099+20A>T) c.8640+20A>T (n.8640+20A>T) c.1197+20A>T c.130+20A>T (n.130+20A>T) c.8536+20A>T (n.8536+20A>T) | ClinVar dbSNP |
| 13 | g.32371121C>A | CA6941267 | BRCA2 | c.8632+21C>A (n.8632+21C>A) c.8263+21C>A (n.8263+21C>A) c.1099+21C>A (n.1099+21C>A) c.8640+21C>A (n.8640+21C>A) c.1197+21C>A c.130+21C>A (n.130+21C>A) c.8536+21C>A (n.8536+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371121C= | CA2082816770 | BRCA2 | c.8632+21C= (n.8632+21C=) c.8263+21C= (n.8263+21C=) c.1099+21C= (n.1099+21C=) c.8640+21C= (n.8640+21C=) c.1197+21C= c.130+21C= (n.130+21C=) c.8536+21C= (n.8536+21C=) | |
| 13 | g.32371121C>G | CA2727839505 | BRCA2 | c.8632+21C>G (n.8632+21C>G) c.8263+21C>G (n.8263+21C>G) c.1099+21C>G (n.1099+21C>G) c.8640+21C>G (n.8640+21C>G) c.1197+21C>G c.130+21C>G (n.130+21C>G) c.8536+21C>G (n.8536+21C>G) | dbSNP |
| 13 | g.32371121C>T | CA654745760 | BRCA2 | c.8632+21C>T (n.8632+21C>T) c.8263+21C>T (n.8263+21C>T) c.1099+21C>T (n.1099+21C>T) c.8640+21C>T (n.8640+21C>T) c.1197+21C>T c.130+21C>T (n.130+21C>T) c.8536+21C>T (n.8536+21C>T) | COSMIC |
| 13 | g.32371122A>G | CA2622601311 | BRCA2 | c.8632+22A>G (n.8632+22A>G) c.8263+22A>G (n.8263+22A>G) c.1099+22A>G (n.1099+22A>G) c.8640+22A>G (n.8640+22A>G) c.1197+22A>G c.130+22A>G (n.130+22A>G) c.8536+22A>G (n.8536+22A>G) | gnomAD v4 |
| 13 | g.32371122A>T | CA2622601312 | BRCA2 | c.8632+22A>T (n.8632+22A>T) c.8263+22A>T (n.8263+22A>T) c.1099+22A>T (n.1099+22A>T) c.8640+22A>T (n.8640+22A>T) c.1197+22A>T c.130+22A>T (n.130+22A>T) c.8536+22A>T (n.8536+22A>T) | dbSNP gnomAD v4 |
| 13 | g.32371123C>G | CA2727922182 | BRCA2 | c.8632+23C>G (n.8632+23C>G) c.8263+23C>G (n.8263+23C>G) c.1099+23C>G (n.1099+23C>G) c.8640+23C>G (n.8640+23C>G) c.1197+23C>G c.130+23C>G (n.130+23C>G) c.8536+23C>G (n.8536+23C>G) | dbSNP |
| 13 | g.32371123C>T | CA2622601313 | BRCA2 | c.8632+23C>T (n.8632+23C>T) c.8263+23C>T (n.8263+23C>T) c.1099+23C>T (n.1099+23C>T) c.8640+23C>T (n.8640+23C>T) c.1197+23C>T c.130+23C>T (n.130+23C>T) c.8536+23C>T (n.8536+23C>T) | dbSNP gnomAD v4 |
| 13 | g.32371124A= | CA2082816779 | BRCA2 | c.8632+24A= (n.8632+24A=) c.8263+24A= (n.8263+24A=) c.1099+24A= (n.1099+24A=) c.8640+24A= (n.8640+24A=) c.1197+24A= c.130+24A= (n.130+24A=) c.8536+24A= (n.8536+24A=) | |
| 13 | g.32371124A>C | CA6941268 | BRCA2 | c.8632+24A>C (n.8632+24A>C) c.8263+24A>C (n.8263+24A>C) c.1099+24A>C (n.1099+24A>C) c.8640+24A>C (n.8640+24A>C) c.1197+24A>C c.130+24A>C (n.130+24A>C) c.8536+24A>C (n.8536+24A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371124A>G | CA025742 | BRCA2 | c.8632+24A>G (n.8632+24A>G) c.8263+24A>G (n.8263+24A>G) c.1099+24A>G (n.1099+24A>G) c.8640+24A>G (n.8640+24A>G) c.1197+24A>G c.130+24A>G (n.130+24A>G) c.8536+24A>G (n.8536+24A>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371125T>A | CA2727922186 | BRCA2 | c.8632+25T>A (n.8632+25T>A) c.8263+25T>A (n.8263+25T>A) c.1099+25T>A (n.1099+25T>A) c.8640+25T>A (n.8640+25T>A) c.1197+25T>A c.130+25T>A (n.130+25T>A) c.8536+25T>A (n.8536+25T>A) | dbSNP |
| 13 | g.32371125T>C | CA2575388011 | BRCA2 | c.8632+25T>C (n.8632+25T>C) c.8263+25T>C (n.8263+25T>C) c.1099+25T>C (n.1099+25T>C) c.8640+25T>C (n.8640+25T>C) c.1197+25T>C c.130+25T>C (n.130+25T>C) c.8536+25T>C (n.8536+25T>C) | gnomAD v4 |
| 13 | g.32371126T>C | CA2082816787 | BRCA2 | c.8632+26T>C (n.8632+26T>C) c.8263+26T>C (n.8263+26T>C) c.1099+26T>C (n.1099+26T>C) c.8640+26T>C (n.8640+26T>C) c.1197+26T>C c.130+26T>C (n.130+26T>C) c.8536+26T>C (n.8536+26T>C) | dbSNP |
| 13 | g.32371126T= | CA2082816784 | BRCA2 | c.8632+26T= (n.8632+26T=) c.8263+26T= (n.8263+26T=) c.1099+26T= (n.1099+26T=) c.8640+26T= (n.8640+26T=) c.1197+26T= c.130+26T= (n.130+26T=) c.8536+26T= (n.8536+26T=) | |
| 13 | g.32371127G>A | CA954695574 | BRCA2 | c.8632+27G>A (n.8632+27G>A) c.8263+27G>A (n.8263+27G>A) c.1099+27G>A (n.1099+27G>A) c.8640+27G>A (n.8640+27G>A) c.1197+27G>A c.130+27G>A (n.130+27G>A) c.8536+27G>A (n.8536+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371127G= | CA2082816793 | BRCA2 | c.8632+27G= (n.8632+27G=) c.8263+27G= (n.8263+27G=) c.1099+27G= (n.1099+27G=) c.8640+27G= (n.8640+27G=) c.1197+27G= c.130+27G= (n.130+27G=) c.8536+27G= (n.8536+27G=) | |
| 13 | g.32371127G>T | CA6941269 | BRCA2 | c.8632+27G>T (n.8632+27G>T) c.8263+27G>T (n.8263+27G>T) c.1099+27G>T (n.1099+27G>T) c.8640+27G>T (n.8640+27G>T) c.1197+27G>T c.130+27G>T (n.130+27G>T) c.8536+27G>T (n.8536+27G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32371128T>A | CA2727922247 | BRCA2 | c.8632+28T>A (n.8632+28T>A) c.8263+28T>A (n.8263+28T>A) c.1099+28T>A (n.1099+28T>A) c.8640+28T>A (n.8640+28T>A) c.1197+28T>A c.130+28T>A (n.130+28T>A) c.8536+28T>A (n.8536+28T>A) | dbSNP |
| 13 | g.32371129T>A | CA2727922314 | BRCA2 | c.8632+29T>A (n.8632+29T>A) c.8263+29T>A (n.8263+29T>A) c.1099+29T>A (n.1099+29T>A) c.8640+29T>A (n.8640+29T>A) c.1197+29T>A c.130+29T>A (n.130+29T>A) c.8536+29T>A (n.8536+29T>A) | dbSNP |
| 13 | g.32371129T>C | CA2727922271 | BRCA2 | c.8632+29T>C (n.8632+29T>C) c.8263+29T>C (n.8263+29T>C) c.1099+29T>C (n.1099+29T>C) c.8640+29T>C (n.8640+29T>C) c.1197+29T>C c.130+29T>C (n.130+29T>C) c.8536+29T>C (n.8536+29T>C) | dbSNP |
| 13 | g.32371130A>T | CA2727922319 | BRCA2 | c.8632+30A>T (n.8632+30A>T) c.8263+30A>T (n.8263+30A>T) c.1099+30A>T (n.1099+30A>T) c.8640+30A>T (n.8640+30A>T) c.1197+30A>T c.130+30A>T (n.130+30A>T) c.8536+30A>T (n.8536+30A>T) | dbSNP |
| 13 | g.32371131T>A | CA2727922320 | BRCA2 | c.8632+31T>A (n.8632+31T>A) c.8263+31T>A (n.8263+31T>A) c.1099+31T>A (n.1099+31T>A) c.8640+31T>A (n.8640+31T>A) c.1197+31T>A c.130+31T>A (n.130+31T>A) c.8536+31T>A (n.8536+31T>A) | dbSNP |
| 13 | g.32371133del | CA2622601314 | BRCA2 | c.8632+33del (n.8632+33del) c.8263+33del (n.8263+33del) c.1099+33del (n.1099+33del) c.8640+33del (n.8640+33del) c.1197+33del c.130+33del (n.130+33del) c.8536+33del (n.8536+33del) | gnomAD v4 |
| 13 | g.32371132T>C | CA2575388012 | BRCA2 | c.8632+32T>C (n.8632+32T>C) c.8263+32T>C (n.8263+32T>C) c.1099+32T>C (n.1099+32T>C) c.8640+32T>C (n.8640+32T>C) c.1197+32T>C c.130+32T>C (n.130+32T>C) c.8536+32T>C (n.8536+32T>C) | |
| 13 | g.32371132T>G | CA697345385 | BRCA2 | c.8632+32T>G (n.8632+32T>G) c.8263+32T>G (n.8263+32T>G) c.1099+32T>G (n.1099+32T>G) c.8640+32T>G (n.8640+32T>G) c.1197+32T>G c.130+32T>G (n.130+32T>G) c.8536+32T>G (n.8536+32T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371132T= | CA2082816800 | BRCA2 | c.8632+32T= (n.8632+32T=) c.8263+32T= (n.8263+32T=) c.1099+32T= (n.1099+32T=) c.8640+32T= (n.8640+32T=) c.1197+32T= c.130+32T= (n.130+32T=) c.8536+32T= (n.8536+32T=) | |
| 13 | g.32371134C>A | CA954695577 | BRCA2 | c.8632+34C>A (n.8632+34C>A) c.8263+34C>A (n.8263+34C>A) c.1099+34C>A (n.1099+34C>A) c.8640+34C>A (n.8640+34C>A) c.1197+34C>A c.130+34C>A (n.130+34C>A) c.8536+34C>A (n.8536+34C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371134C= | CA2082816803 | BRCA2 | c.8632+34C= (n.8632+34C=) c.8263+34C= (n.8263+34C=) c.1099+34C= (n.1099+34C=) c.8640+34C= (n.8640+34C=) c.1197+34C= c.130+34C= (n.130+34C=) c.8536+34C= (n.8536+34C=) | |
| 13 | g.32371134C>G | CA2727912859 | BRCA2 | c.8632+34C>G (n.8632+34C>G) c.8263+34C>G (n.8263+34C>G) c.1099+34C>G (n.1099+34C>G) c.8640+34C>G (n.8640+34C>G) c.1197+34C>G c.130+34C>G (n.130+34C>G) c.8536+34C>G (n.8536+34C>G) | dbSNP |
| 13 | g.32371134C>T | CA2727912860 | BRCA2 | c.8632+34C>T (n.8632+34C>T) c.8263+34C>T (n.8263+34C>T) c.1099+34C>T (n.1099+34C>T) c.8640+34C>T (n.8640+34C>T) c.1197+34C>T c.130+34C>T (n.130+34C>T) c.8536+34C>T (n.8536+34C>T) | dbSNP |
| 13 | g.32371136A= | CA2082816822 | BRCA2 | c.8632+36A= (n.8632+36A=) c.8263+36A= (n.8263+36A=) c.1099+36A= (n.1099+36A=) c.8640+36A= (n.8640+36A=) c.1197+36A= c.130+36A= (n.130+36A=) c.8536+36A= (n.8536+36A=) | |
| 13 | g.32371136A>C | CA2082816826 | BRCA2 | c.8632+36A>C (n.8632+36A>C) c.8263+36A>C (n.8263+36A>C) c.1099+36A>C (n.1099+36A>C) c.8640+36A>C (n.8640+36A>C) c.1197+36A>C c.130+36A>C (n.130+36A>C) c.8536+36A>C (n.8536+36A>C) | dbSNP |
| 13 | g.32371136A>G | CA247484390 | BRCA2 | c.8632+36A>G (n.8632+36A>G) c.8263+36A>G (n.8263+36A>G) c.1099+36A>G (n.1099+36A>G) c.8640+36A>G (n.8640+36A>G) c.1197+36A>G c.130+36A>G (n.130+36A>G) c.8536+36A>G (n.8536+36A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32371137A= | CA2082816832 | BRCA2 | c.8632+37A= (n.8632+37A=) c.8263+37A= (n.8263+37A=) c.1099+37A= (n.1099+37A=) c.8640+37A= (n.8640+37A=) c.1197+37A= c.130+37A= (n.130+37A=) c.8536+37A= (n.8536+37A=) | |
| 13 | g.32371137A>G | CA2082816834 | BRCA2 | c.8632+37A>G (n.8632+37A>G) c.8263+37A>G (n.8263+37A>G) c.1099+37A>G (n.1099+37A>G) c.8640+37A>G (n.8640+37A>G) c.1197+37A>G c.130+37A>G (n.130+37A>G) c.8536+37A>G (n.8536+37A>G) | dbSNP |
| 13 | g.32371137A>T | CA2622601315 | BRCA2 | c.8632+37A>T (n.8632+37A>T) c.8263+37A>T (n.8263+37A>T) c.1099+37A>T (n.1099+37A>T) c.8640+37A>T (n.8640+37A>T) c.1197+37A>T c.130+37A>T (n.130+37A>T) c.8536+37A>T (n.8536+37A>T) | dbSNP gnomAD v4 |
| 13 | g.32371138T>A | CA2727846565 | BRCA2 | c.8632+38T>A (n.8632+38T>A) c.8263+38T>A (n.8263+38T>A) c.1099+38T>A (n.1099+38T>A) c.8640+38T>A (n.8640+38T>A) c.1197+38T>A c.130+38T>A (n.130+38T>A) c.8536+38T>A (n.8536+38T>A) | dbSNP |
| 13 | g.32371138T>C | CA247484395 | BRCA2 | c.8632+38T>C (n.8632+38T>C) c.8263+38T>C (n.8263+38T>C) c.1099+38T>C (n.1099+38T>C) c.8640+38T>C (n.8640+38T>C) c.1197+38T>C c.130+38T>C (n.130+38T>C) c.8536+38T>C (n.8536+38T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371138T= | CA2082816835 | BRCA2 | c.8632+38T= (n.8632+38T=) c.8263+38T= (n.8263+38T=) c.1099+38T= (n.1099+38T=) c.8640+38T= (n.8640+38T=) c.1197+38T= c.130+38T= (n.130+38T=) c.8536+38T= (n.8536+38T=) | |
| 13 | g.32371139A= | CA2082816842 | BRCA2 | c.8632+39A= (n.8632+39A=) c.8263+39A= (n.8263+39A=) c.1099+39A= (n.1099+39A=) c.8640+39A= (n.8640+39A=) c.1197+39A= c.130+39A= (n.130+39A=) c.8536+39A= (n.8536+39A=) | |
| 13 | g.32371139A>G | CA483261567 | BRCA2 | c.8632+39A>G (n.8632+39A>G) c.8263+39A>G (n.8263+39A>G) c.1099+39A>G (n.1099+39A>G) c.8640+39A>G (n.8640+39A>G) c.1197+39A>G c.130+39A>G (n.130+39A>G) c.8536+39A>G (n.8536+39A>G) | dbSNP gnomAD v4 |
| 13 | g.32371139A>T | CA2727912862 | BRCA2 | c.8632+39A>T (n.8632+39A>T) c.8263+39A>T (n.8263+39A>T) c.1099+39A>T (n.1099+39A>T) c.8640+39A>T (n.8640+39A>T) c.1197+39A>T c.130+39A>T (n.130+39A>T) c.8536+39A>T (n.8536+39A>T) | dbSNP |
| 13 | g.32371140T>C | CA247484399 | BRCA2 | c.8632+40T>C (n.8632+40T>C) c.8263+40T>C (n.8263+40T>C) c.1099+40T>C (n.1099+40T>C) c.8640+40T>C (n.8640+40T>C) c.1197+40T>C c.130+40T>C (n.130+40T>C) c.8536+40T>C (n.8536+40T>C) | dbSNP |
| 13 | g.32371140T= | CA2082816847 | BRCA2 | c.8632+40T= (n.8632+40T=) c.8263+40T= (n.8263+40T=) c.1099+40T= (n.1099+40T=) c.8640+40T= (n.8640+40T=) c.1197+40T= c.130+40T= (n.130+40T=) c.8536+40T= (n.8536+40T=) | |
| 13 | g.32371141G>A | CA2082816875 | BRCA2 | c.8632+41G>A (n.8632+41G>A) c.8263+41G>A (n.8263+41G>A) c.1099+41G>A (n.1099+41G>A) c.8640+41G>A (n.8640+41G>A) c.1197+41G>A c.130+41G>A (n.130+41G>A) c.8536+41G>A (n.8536+41G>A) | dbSNP |
| 13 | g.32371141G>C | CA2727912863 | BRCA2 | c.8632+41G>C (n.8632+41G>C) c.8263+41G>C (n.8263+41G>C) c.1099+41G>C (n.1099+41G>C) c.8640+41G>C (n.8640+41G>C) c.1197+41G>C c.130+41G>C (n.130+41G>C) c.8536+41G>C (n.8536+41G>C) | dbSNP |
| 13 | g.32371141G= | CA2082816874 | BRCA2 | c.8632+41G= (n.8632+41G=) c.8263+41G= (n.8263+41G=) c.1099+41G= (n.1099+41G=) c.8640+41G= (n.8640+41G=) c.1197+41G= c.130+41G= (n.130+41G=) c.8536+41G= (n.8536+41G=) | |
| 13 | g.32371142A>G | CA2727922321 | BRCA2 | c.8632+42A>G (n.8632+42A>G) c.8263+42A>G (n.8263+42A>G) c.1099+42A>G (n.1099+42A>G) c.8640+42A>G (n.8640+42A>G) c.1197+42A>G c.130+42A>G (n.130+42A>G) c.8536+42A>G (n.8536+42A>G) | dbSNP |
| 13 | g.32371142A>T | CA2727922323 | BRCA2 | c.8632+42A>T (n.8632+42A>T) c.8263+42A>T (n.8263+42A>T) c.1099+42A>T (n.1099+42A>T) c.8640+42A>T (n.8640+42A>T) c.1197+42A>T c.130+42A>T (n.130+42A>T) c.8536+42A>T (n.8536+42A>T) | dbSNP |
| 13 | g.32371143G>C | CA2622601316 | BRCA2 | c.8632+43G>C (n.8632+43G>C) c.8263+43G>C (n.8263+43G>C) c.1099+43G>C (n.1099+43G>C) c.8640+43G>C (n.8640+43G>C) c.1197+43G>C c.130+43G>C (n.130+43G>C) c.8536+43G>C (n.8536+43G>C) | dbSNP gnomAD v4 |
| 13 | g.32371144A= | CA2082816879 | BRCA2 | c.8632+44A= (n.8632+44A=) c.8263+44A= (n.8263+44A=) c.1099+44A= (n.1099+44A=) c.8640+44A= (n.8640+44A=) c.1197+44A= c.130+44A= (n.130+44A=) c.8536+44A= (n.8536+44A=) | |
| 13 | g.32371144A>G | CA2082816880 | BRCA2 | c.8632+44A>G (n.8632+44A>G) c.8263+44A>G (n.8263+44A>G) c.1099+44A>G (n.1099+44A>G) c.8640+44A>G (n.8640+44A>G) c.1197+44A>G c.130+44A>G (n.130+44A>G) c.8536+44A>G (n.8536+44A>G) | dbSNP |
| 13 | g.32371144A>T | CA2798730084 | BRCA2 | c.8632+44A>T (n.8632+44A>T) c.8263+44A>T (n.8263+44A>T) c.1099+44A>T (n.1099+44A>T) c.8640+44A>T (n.8640+44A>T) c.1197+44A>T c.130+44A>T (n.130+44A>T) c.8536+44A>T (n.8536+44A>T) | |
| 13 | g.32371145A>T | CA2727922362 | BRCA2 | c.8632+45A>T (n.8632+45A>T) c.8263+45A>T (n.8263+45A>T) c.1099+45A>T (n.1099+45A>T) c.8640+45A>T (n.8640+45A>T) c.1197+45A>T c.130+45A>T (n.130+45A>T) c.8536+45A>T (n.8536+45A>T) | dbSNP |
| 13 | g.32371146C>A | CA2622601317 | BRCA2 | c.8632+46C>A (n.8632+46C>A) c.8263+46C>A (n.8263+46C>A) c.1099+46C>A (n.1099+46C>A) c.8640+46C>A (n.8640+46C>A) c.1197+46C>A c.130+46C>A (n.130+46C>A) c.8536+46C>A (n.8536+46C>A) | dbSNP gnomAD v4 |
| 13 | g.32371146C>G | CA2727922437 | BRCA2 | c.8632+46C>G (n.8632+46C>G) c.8263+46C>G (n.8263+46C>G) c.1099+46C>G (n.1099+46C>G) c.8640+46C>G (n.8640+46C>G) c.1197+46C>G c.130+46C>G (n.130+46C>G) c.8536+46C>G (n.8536+46C>G) | dbSNP |
| 13 | g.32371146C>T | CA2622601318 | BRCA2 | c.8632+46C>T (n.8632+46C>T) c.8263+46C>T (n.8263+46C>T) c.1099+46C>T (n.1099+46C>T) c.8640+46C>T (n.8640+46C>T) c.1197+46C>T c.130+46C>T (n.130+46C>T) c.8536+46C>T (n.8536+46C>T) | dbSNP gnomAD v4 |
| 13 | g.32371148_32371149del | CA2622601319 | BRCA2 | c.8632+48_8632+49del (n.8632+48_8632+49del) c.8263+48_8263+49del (n.8263+48_8263+49del) c.1099+48_1099+49del (n.1099+48_1099+49del) c.8640+48_8640+49del (n.8640+48_8640+49del) c.1197+48_1197+49del c.130+48_130+49del (n.130+48_130+49del) c.8536+48_8536+49del (n.8536+48_8536+49del) | gnomAD v4 |
| 13 | g.32371148A= | CA2082816885 | BRCA2 | c.8632+48A= (n.8632+48A=) c.8263+48A= (n.8263+48A=) c.1099+48A= (n.1099+48A=) c.8640+48A= (n.8640+48A=) c.1197+48A= c.130+48A= (n.130+48A=) c.8536+48A= (n.8536+48A=) | |
| 13 | g.32371148A>G | CA2082816886 | BRCA2 | c.8632+48A>G (n.8632+48A>G) c.8263+48A>G (n.8263+48A>G) c.1099+48A>G (n.1099+48A>G) c.8640+48A>G (n.8640+48A>G) c.1197+48A>G c.130+48A>G (n.130+48A>G) c.8536+48A>G (n.8536+48A>G) | dbSNP |
| 13 | g.32371149A>C | CA2727922462 | BRCA2 | c.8632+49A>C (n.8632+49A>C) c.8263+49A>C (n.8263+49A>C) c.1099+49A>C (n.1099+49A>C) c.8640+49A>C (n.8640+49A>C) c.1197+49A>C c.130+49A>C (n.130+49A>C) c.8536+49A>C (n.8536+49A>C) | dbSNP |
| 13 | g.32371149A>G | CA2727922463 | BRCA2 | c.8632+49A>G (n.8632+49A>G) c.8263+49A>G (n.8263+49A>G) c.1099+49A>G (n.1099+49A>G) c.8640+49A>G (n.8640+49A>G) c.1197+49A>G c.130+49A>G (n.130+49A>G) c.8536+49A>G (n.8536+49A>G) | dbSNP |
| 13 | g.32371149A>T | CA2727922464 | BRCA2 | c.8632+49A>T (n.8632+49A>T) c.8263+49A>T (n.8263+49A>T) c.1099+49A>T (n.1099+49A>T) c.8640+49A>T (n.8640+49A>T) c.1197+49A>T c.130+49A>T (n.130+49A>T) c.8536+49A>T (n.8536+49A>T) | dbSNP |
| 13 | g.32371150G>A | CA247484408 | BRCA2 | c.8632+50G>A (n.8632+50G>A) c.8263+50G>A (n.8263+50G>A) c.1099+50G>A (n.1099+50G>A) c.8640+50G>A (n.8640+50G>A) c.1197+50G>A c.130+50G>A (n.130+50G>A) c.8536+50G>A (n.8536+50G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371150G>C | CA2727835704 | BRCA2 | c.8632+50G>C (n.8632+50G>C) c.8263+50G>C (n.8263+50G>C) c.1099+50G>C (n.1099+50G>C) c.8640+50G>C (n.8640+50G>C) c.1197+50G>C c.130+50G>C (n.130+50G>C) c.8536+50G>C (n.8536+50G>C) | dbSNP |
| 13 | g.32371150G= | CA2082816887 | BRCA2 | c.8632+50G= (n.8632+50G=) c.8263+50G= (n.8263+50G=) c.1099+50G= (n.1099+50G=) c.8640+50G= (n.8640+50G=) c.1197+50G= c.130+50G= (n.130+50G=) c.8536+50G= (n.8536+50G=) |