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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32336494_32336500del | CA2580087205 | BRCA2 | c.2139_2145del (p.Gln713HisfsTer15) c.1770_1776del (p.Gln590HisfsTer15) n.2139_2145del | ClinVar |
| 13 | g.32336499dup | CA2695217992 | BRCA2 | c.2144dup (p.Gln716ThrfsTer3) c.1775dup (p.Gln593ThrfsTer3) n.2144dup | |
| 13 | g.32336499G>A | CA387770147 | BRCA2 | c.2144G>A (p.Gly715Glu) c.1775G>A (p.Gly592Glu) n.2144G>A | ClinVar dbSNP |
| 13 | g.32336499G>C | CA387770150 | BRCA2 | c.2144G>C (p.Gly715Ala) c.1775G>C (p.Gly592Ala) n.2144G>C | ClinVar dbSNP |
| 13 | g.32336499G= | CA2082749748 | BRCA2 | c.2144G= (p.Gly715=) c.1775G= (p.Gly592=) n.2144G= | |
| 13 | g.32336499G>T | CA387770152 | BRCA2 | c.2144G>T (p.Gly715Val) c.1775G>T (p.Gly592Val) n.2144G>T | dbSNP |
| 13 | g.32336500A= | CA2082749762 | BRCA2 | c.2145A= (p.Gly715=) c.1776A= (p.Gly592=) n.2145A= | |
| 13 | g.32336500A>C | CA483436812 | BRCA2 | c.2145A>C (p.Gly715=) c.1776A>C (p.Gly592=) n.2145A>C | |
| 13 | g.32336500A>G | CA014444 | BRCA2 | c.2145A>G (p.Gly715=) c.1776A>G (p.Gly592=) n.2145A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336500A>T | CA483436813 | BRCA2 | c.2145A>T (p.Gly715=) c.1776A>T (p.Gly592=) n.2145A>T | dbSNP |
| 13 | g.32336501C>A | CA387770155 | BRCA2 | c.2146C>A (p.Gln716Lys) c.1777C>A (p.Gln593Lys) n.2146C>A | dbSNP |
| 13 | g.32336501C= | CA2082749772 | BRCA2 | c.2146C= (p.Gln716=) c.1777C= (p.Gln593=) n.2146C= | |
| 13 | g.32336501C>G | CA387770158 | BRCA2 | c.2146C>G (p.Gln716Glu) c.1777C>G (p.Gln593Glu) n.2146C>G | dbSNP |
| 13 | g.32336501C>T | CA387770160 | BRCA2 | c.2146C>T (p.Gln716Ter) c.1777C>T (p.Gln593Ter) n.2146C>T | ClinVar dbSNP |
| 13 | g.32336501_32336502delinsCA | CA2082749771 | BRCA2 | c.2146_2147delinsCA (p.Gln716=) c.1777_1778delinsCA (p.Gln593=) n.2146_2147delinsCA | |
| 13 | g.32336502del | CA658798105 | BRCA2 | c.2147del (p.Gln716ArgfsTer14) c.1778del (p.Gln593ArgfsTer14) n.2147del | ClinVar dbSNP |
| 13 | g.32336502A>C | CA387770164 | BRCA2 | c.2147A>C (p.Gln716Pro) c.1778A>C (p.Gln593Pro) n.2147A>C | |
| 13 | g.32336502A>G | CA387770165 | BRCA2 | c.2147A>G (p.Gln716Arg) c.1778A>G (p.Gln593Arg) n.2147A>G | |
| 13 | g.32336502A>T | CA387770163 | BRCA2 | c.2147A>T (p.Gln716Leu) c.1778A>T (p.Gln593Leu) n.2147A>T | ClinVar |
| 13 | g.32336502dup | CA10589138 | BRCA2 | c.2147dup (p.Cys717ValfsTer2) c.1778dup (p.Cys594ValfsTer2) n.2147dup | ClinVar dbSNP |
| 13 | g.32336502_32336504delinsAGT | CA2082749789 | BRCA2 | c.2147_2149delinsAGT (p.Gln716=) c.1778_1780delinsAGT (p.Gln593=) n.2147_2149delinsAGT | |
| 13 | g.32336503G>A | CA483436814 | BRCA2 | c.2148G>A (p.Gln716=) c.1779G>A (p.Gln593=) n.2148G>A | dbSNP |
| 13 | g.32336503G>C | CA10579524 | BRCA2 | c.2148G>C (p.Gln716His) c.1779G>C (p.Gln593His) n.2148G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336503G= | CA2082749802 | BRCA2 | c.2148G= (p.Gln716=) c.1779G= (p.Gln593=) n.2148G= | |
| 13 | g.32336503G>T | CA387770171 | BRCA2 | c.2148G>T (p.Gln716His) c.1779G>T (p.Gln593His) n.2148G>T | |
| 13 | g.32336506_32336507del | CA10583078 | BRCA2 | c.2151_2152del (p.Cys717Ter) c.1782_1783del (p.Cys594Ter) n.2151_2152del | ClinVar dbSNP |
| 13 | g.32336504T>A | CA387770174 | BRCA2 | c.2149T>A (p.Cys717Ser) c.1780T>A (p.Cys594Ser) n.2149T>A | dbSNP gnomAD v4 |
| 13 | g.32336504T>C | CA387770177 | BRCA2 | c.2149T>C (p.Cys717Arg) c.1780T>C (p.Cys594Arg) n.2149T>C | dbSNP |
| 13 | g.32336504T>G | CA387770180 | BRCA2 | c.2149T>G (p.Cys717Gly) c.1780T>G (p.Cys594Gly) n.2149T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336504T= | CA2082749818 | BRCA2 | c.2149T= (p.Cys717=) c.1780T= (p.Cys594=) n.2149T= | |
| 13 | g.32336504_32336505delinsTG | CA2082749820 | BRCA2 | c.2149_2150delinsTG (p.Cys717=) c.1780_1781delinsTG (p.Cys594=) n.2149_2150delinsTG | |
| 13 | g.32336505del | CA014453 | BRCA2 | c.2150del (p.Cys717LeufsTer13) c.1781del (p.Cys594LeufsTer13) n.2150del | ClinVar dbSNP |
| 13 | g.32336505G>A | CA387770184 | BRCA2 | c.2150G>A (p.Cys717Tyr) c.1781G>A (p.Cys594Tyr) n.2150G>A | ClinVar dbSNP |
| 13 | g.32336505G>C | CA387770186 | BRCA2 | c.2150G>C (p.Cys717Ser) c.1781G>C (p.Cys594Ser) n.2150G>C | dbSNP |
| 13 | g.32336505G= | CA2082749840 | BRCA2 | c.2150G= (p.Cys717=) c.1781G= (p.Cys594=) n.2150G= | |
| 13 | g.32336505G>T | CA387770188 | BRCA2 | c.2150G>T (p.Cys717Phe) c.1781G>T (p.Cys594Phe) n.2150G>T | |
| 13 | g.32336506T>A | CA10579525 | BRCA2 | c.2151T>A (p.Cys717Ter) c.1782T>A (p.Cys594Ter) n.2151T>A | ClinVar dbSNP |
| 13 | g.32336506T>C | CA483436815 | BRCA2 | c.2151T>C (p.Cys717=) c.1782T>C (p.Cys594=) n.2151T>C | |
| 13 | g.32336506T>G | CA387770194 | BRCA2 | c.2151T>G (p.Cys717Trp) c.1782T>G (p.Cys594Trp) n.2151T>G | dbSNP |
| 13 | g.32336506T= | CA2082749851 | BRCA2 | c.2151T= (p.Cys717=) c.1782T= (p.Cys594=) n.2151T= | |
| 13 | g.32336507G>A | CA014465 | BRCA2 | c.2152G>A (p.Glu718Lys) c.1783G>A (p.Glu595Lys) n.2152G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336507G>C | CA387770197 | BRCA2 | c.2152G>C (p.Glu718Gln) c.1783G>C (p.Glu595Gln) n.2152G>C | |
| 13 | g.32336507G= | CA2082749861 | BRCA2 | c.2152G= (p.Glu718=) c.1783G= (p.Glu595=) n.2152G= | |
| 13 | g.32336507G>T | CA387770200 | BRCA2 | c.2152G>T (p.Glu718Ter) c.1783G>T (p.Glu595Ter) n.2152G>T | |
| 13 | g.32336508A= | CA2082749871 | BRCA2 | c.2153A= (p.Glu718=) c.1784A= (p.Glu595=) n.2153A= | |
| 13 | g.32336508A>C | CA16614243 | BRCA2 | c.2153A>C (p.Glu718Ala) c.1784A>C (p.Glu595Ala) n.2153A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336508A>G | CA387770205 | BRCA2 | c.2153A>G (p.Glu718Gly) c.1784A>G (p.Glu595Gly) n.2153A>G | dbSNP gnomAD v4 |
| 13 | g.32336508A>T | CA387770207 | BRCA2 | c.2153A>T (p.Glu718Val) c.1784A>T (p.Glu595Val) n.2153A>T | dbSNP |
| 13 | g.32336511del | CA2580087240 | BRCA2 | c.2156del (p.Asn719MetfsTer11) c.1787del (p.Asn596MetfsTer11) n.2156del | ClinVar |
| 13 | g.32336509A= | CA2082749884 | BRCA2 | c.2154A= (p.Glu718=) c.1785A= (p.Glu595=) n.2154A= | |
| 13 | g.32336509A>C | CA387770210 | BRCA2 | c.2154A>C (p.Glu718Asp) c.1785A>C (p.Glu595Asp) n.2154A>C | ClinVar dbSNP |
| 13 | g.32336509A>G | CA483436816 | BRCA2 | c.2154A>G (p.Glu718=) c.1785A>G (p.Glu595=) n.2154A>G | |
| 13 | g.32336509A>T | CA387770213 | BRCA2 | c.2154A>T (p.Glu718Asp) c.1785A>T (p.Glu595Asp) n.2154A>T | dbSNP |
| 13 | g.32336509_32336513delinsAAATG | CA2082749886 | BRCA2 | c.2154_2158delinsAAATG (p.Glu718=) c.1785_1789delinsAAATG (p.Glu595=) n.2154_2158delinsAAATG | |
| 13 | g.32336510A>C | CA387770214 | BRCA2 | c.2155A>C (p.Asn719His) c.1786A>C (p.Asn596His) n.2155A>C | |
| 13 | g.32336510A>G | CA387770215 | BRCA2 | c.2155A>G (p.Asn719Asp) c.1786A>G (p.Asn596Asp) n.2155A>G | |
| 13 | g.32336510A>T | CA387770217 | BRCA2 | c.2155A>T (p.Asn719Tyr) c.1786A>T (p.Asn596Tyr) n.2155A>T | dbSNP |
| 13 | g.32336511_32336514del | CA645509340 | BRCA2 | c.2156_2159del (p.Asn719IlefsTer10) c.1787_1790del (p.Asn596IlefsTer10) n.2156_2159del | ClinVar dbSNP |
| 13 | g.32336511A= | CA2082749902 | BRCA2 | c.2156A= (p.Asn719=) c.1787A= (p.Asn596=) n.2156A= | |
| 13 | g.32336511A>C | CA387770220 | BRCA2 | c.2156A>C (p.Asn719Thr) c.1787A>C (p.Asn596Thr) n.2156A>C | |
| 13 | g.32336511A>G | CA6940585 | BRCA2 | c.2156A>G (p.Asn719Ser) c.1787A>G (p.Asn596Ser) n.2156A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336511A>T | CA387770224 | BRCA2 | c.2156A>T (p.Asn719Ile) c.1787A>T (p.Asn596Ile) n.2156A>T | dbSNP |
| 13 | g.32336512del | CA1139770862 | BRCA2 | c.2157del (p.Asn719LysfsTer11) c.1788del (p.Asn596LysfsTer11) n.2157del | |
| 13 | g.32336512T>A | CA16621907 | BRCA2 | c.2157T>A (p.Asn719Lys) c.1788T>A (p.Asn596Lys) n.2157T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336512T>C | CA483436817 | BRCA2 | c.2157T>C (p.Asn719=) c.1788T>C (p.Asn596=) n.2157T>C | ClinVar dbSNP |
| 13 | g.32336512T>G | CA387770227 | BRCA2 | c.2157T>G (p.Asn719Lys) c.1788T>G (p.Asn596Lys) n.2157T>G | |
| 13 | g.32336512T= | CA2082749909 | BRCA2 | c.2157T= (p.Asn719=) c.1788T= (p.Asn596=) n.2157T= | |
| 13 | g.32336513G>A | CA387770234 | BRCA2 | c.2158G>A (p.Asp720Asn) c.1789G>A (p.Asp597Asn) n.2158G>A | dbSNP |
| 13 | g.32336513G>C | CA387770235 | BRCA2 | c.2158G>C (p.Asp720His) c.1789G>C (p.Asp597His) n.2158G>C | dbSNP |
| 13 | g.32336513G>T | CA387770232 | BRCA2 | c.2158G>T (p.Asp720Tyr) c.1789G>T (p.Asp597Tyr) n.2158G>T | ClinVar dbSNP |
| 13 | g.32336514A= | CA2082749915 | BRCA2 | c.2159A= (p.Asp720=) c.1790A= (p.Asp597=) n.2159A= | |
| 13 | g.32336514A>C | CA387770244 | BRCA2 | c.2159A>C (p.Asp720Ala) c.1790A>C (p.Asp597Ala) n.2159A>C | |
| 13 | g.32336514A>G | CA387770238 | BRCA2 | c.2159A>G (p.Asp720Gly) c.1790A>G (p.Asp597Gly) n.2159A>G | |
| 13 | g.32336514A>T | CA387770241 | BRCA2 | c.2159A>T (p.Asp720Val) c.1790A>T (p.Asp597Val) n.2159A>T | ClinVar dbSNP |
| 13 | g.32336514_32336515delinsAT | CA2082749917 | BRCA2 | c.2159_2160delinsAT (p.Asp720=) c.1790_1791delinsAT (p.Asp597=) n.2159_2160delinsAT | |
| 13 | g.32336515T>A | CA387770246 | BRCA2 | c.2160T>A (p.Asp720Glu) c.1791T>A (p.Asp597Glu) n.2160T>A | gnomAD v4 |
| 13 | g.32336515T>C | CA10579526 | BRCA2 | c.2160T>C (p.Asp720=) c.1791T>C (p.Asp597=) n.2160T>C | ClinVar dbSNP |
| 13 | g.32336515T>G | CA387770248 | BRCA2 | c.2160T>G (p.Asp720Glu) c.1791T>G (p.Asp597Glu) n.2160T>G | |
| 13 | g.32336515T= | CA2082749925 | BRCA2 | c.2160T= (p.Asp720=) c.1791T= (p.Asp597=) n.2160T= | |
| 13 | g.32336515delinsCAGGAA | CA1139663106 | BRCA2 | c.2160delinsCAGGAA (p.Pro721ArgfsTer11) c.1791delinsCAGGAA (p.Pro598ArgfsTer11) n.2160delinsCAGGAA | ClinVar dbSNP |
| 13 | g.32336516C>A | CA387770250 | BRCA2 | c.2161C>A (p.Pro721Thr) c.1792C>A (p.Pro598Thr) n.2161C>A | ClinVar dbSNP |
| 13 | g.32336516C= | CA2082749930 | BRCA2 | c.2161C= (p.Pro721=) c.1792C= (p.Pro598=) n.2161C= | |
| 13 | g.32336516C>G | CA387770252 | BRCA2 | c.2161C>G (p.Pro721Ala) c.1792C>G (p.Pro598Ala) n.2161C>G | dbSNP |
| 13 | g.32336516C>T | CA247501511 | BRCA2 | c.2161C>T (p.Pro721Ser) c.1792C>T (p.Pro598Ser) n.2161C>T | ClinVar dbSNP |
| 13 | g.32336517C>A | CA387770254 | BRCA2 | c.2162C>A (p.Pro721Gln) c.1793C>A (p.Pro598Gln) n.2162C>A | gnomAD v4 |
| 13 | g.32336517C= | CA2082749939 | BRCA2 | c.2162C= (p.Pro721=) c.1793C= (p.Pro598=) n.2162C= | |
| 13 | g.32336517C>G | CA014489 | BRCA2 | c.2162C>G (p.Pro721Arg) c.1793C>G (p.Pro598Arg) n.2162C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336517C>T | CA387770256 | BRCA2 | c.2162C>T (p.Pro721Leu) c.1793C>T (p.Pro598Leu) n.2162C>T | |
| 13 | g.32336517_32336518insTGAGAGATTACTGTATT | CA2082749946 | BRCA2 | c.2162_2163insTGAGAGATTACTGTATT (p.Lys722GlufsTer6) c.1793_1794insTGAGAGATTACTGTATT (p.Lys599GlufsTer6) n.2162_2163insTGAGAGATTACTGTATT | dbSNP |
| 13 | g.32336518A= | CA2082749947 | BRCA2 | c.2163A= (p.Pro721=) c.1794A= (p.Pro598=) n.2163A= | |
| 13 | g.32336518A>C | CA483436818 | BRCA2 | c.2163A>C (p.Pro721=) c.1794A>C (p.Pro598=) n.2163A>C | |
| 13 | g.32336518A>G | CA483436820 | BRCA2 | c.2163A>G (p.Pro721=) c.1794A>G (p.Pro598=) n.2163A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32336518A>T | CA483436819 | BRCA2 | c.2163A>T (p.Pro721=) c.1794A>T (p.Pro598=) n.2163A>T | dbSNP |
| 13 | g.32336518_32336519insCAGGA | CA2695217993 | BRCA2 | c.2163_2164insCAGGA (p.Lys722GlnfsTer10) c.1794_1795insCAGGA (p.Lys599GlnfsTer10) n.2163_2164insCAGGA | |
| 13 | g.32336522dup | CA1139663107 | BRCA2 | c.2167dup (p.Ser723LysfsTer28) c.1798dup (p.Ser600LysfsTer28) n.2167dup | ClinVar dbSNP |
| 13 | g.32336522del | CA2499222099 | BRCA2 | c.2167del (p.Ser723AlafsTer7) c.1798del (p.Ser600AlafsTer7) n.2167del | ClinVar dbSNP |
| 13 | g.32336519A>C | CA387770262 | BRCA2 | c.2164A>C (p.Lys722Gln) c.1795A>C (p.Lys599Gln) n.2164A>C | dbSNP COSMIC COSMIC |
| 13 | g.32336519A>G | CA387770260 | BRCA2 | c.2164A>G (p.Lys722Glu) c.1795A>G (p.Lys599Glu) n.2164A>G | ClinVar |
| 13 | g.32336519A>T | CA387770258 | BRCA2 | c.2164A>T (p.Lys722Ter) c.1795A>T (p.Lys599Ter) n.2164A>T | dbSNP |
| 13 | g.32336520A>C | CA387770264 | BRCA2 | c.2165A>C (p.Lys722Thr) c.1796A>C (p.Lys599Thr) n.2165A>C | |
| 13 | g.32336520A>G | CA387770266 | BRCA2 | c.2165A>G (p.Lys722Arg) c.1796A>G (p.Lys599Arg) n.2165A>G | |
| 13 | g.32336520A>T | CA387770269 | BRCA2 | c.2165A>T (p.Lys722Ile) c.1796A>T (p.Lys599Ile) n.2165A>T | dbSNP |
| 13 | g.32336521A>C | CA387770270 | BRCA2 | c.2166A>C (p.Lys722Asn) c.1797A>C (p.Lys599Asn) n.2166A>C | |
| 13 | g.32336521A>G | CA483436821 | BRCA2 | c.2166A>G (p.Lys722=) c.1797A>G (p.Lys599=) n.2166A>G | ClinVar dbSNP |
| 13 | g.32336521A>T | CA387770272 | BRCA2 | c.2166A>T (p.Lys722Asn) c.1797A>T (p.Lys599Asn) n.2166A>T | |
| 13 | g.32336521_32336523delinsAAG | CA2082749952 | BRCA2 | c.2166_2168delinsAAG (p.Lys722=) c.1797_1799delinsAAG (p.Lys599=) n.2166_2168delinsAAG | |
| 13 | g.32336521_32336524delinsAAGC | CA2082749953 | BRCA2 | c.2166_2169delinsAAGC (p.Lys722=) c.1797_1800delinsAAGC (p.Lys599=) n.2166_2169delinsAAGC | |
| 13 | g.32336522A>C | CA387770274 | BRCA2 | c.2167A>C (p.Ser723Arg) c.1798A>C (p.Ser600Arg) n.2167A>C | ClinVar |
| 13 | g.32336522A>G | CA387770275 | BRCA2 | c.2167A>G (p.Ser723Gly) c.1798A>G (p.Ser600Gly) n.2167A>G | |
| 13 | g.32336522A>T | CA387770276 | BRCA2 | c.2167A>T (p.Ser723Cys) c.1798A>T (p.Ser600Cys) n.2167A>T | dbSNP |
| 13 | g.32336522_32336523del | CA915946980 | BRCA2 | c.2167_2168del (p.Ser723GlnfsTer27) c.1798_1799del (p.Ser600GlnfsTer27) n.2167_2168del | ClinVar dbSNP |
| 13 | g.32336522_32336524delinsCT | CA891844445 | BRCA2 | c.2167_2169delinsCT (p.Ser723LeufsTer7) c.1798_1800delinsCT (p.Ser600LeufsTer7) n.2167_2169delinsCT | ClinVar dbSNP |
| 13 | g.32336523del | CA2580614651 | BRCA2 | c.2168del (p.Ser723ThrfsTer7) c.1799del (p.Ser600ThrfsTer7) n.2168del | ClinVar |
| 13 | g.32336523G>A | CA387770277 | BRCA2 | c.2168G>A (p.Ser723Asn) c.1799G>A (p.Ser600Asn) n.2168G>A | ClinVar dbSNP |
| 13 | g.32336523G>C | CA387770279 | BRCA2 | c.2168G>C (p.Ser723Thr) c.1799G>C (p.Ser600Thr) n.2168G>C | dbSNP |
| 13 | g.32336523G>T | CA387770282 | BRCA2 | c.2168G>T (p.Ser723Ile) c.1799G>T (p.Ser600Ile) n.2168G>T | |
| 13 | g.32336524del | CA2575387803 | BRCA2 | c.2169del (p.Ser723ArgfsTer7) c.1800del (p.Ser600ArgfsTer7) n.2169del | |
| 13 | g.32336524C>A | CA387770284 | BRCA2 | c.2169C>A (p.Ser723Arg) c.1800C>A (p.Ser600Arg) n.2169C>A | |
| 13 | g.32336524C= | CA2082749963 | BRCA2 | c.2169C= (p.Ser723=) c.1800C= (p.Ser600=) n.2169C= | |
| 13 | g.32336524C>G | CA387770286 | BRCA2 | c.2169C>G (p.Ser723Arg) c.1800C>G (p.Ser600Arg) n.2169C>G | dbSNP |
| 13 | g.32336524C>T | CA483436822 | BRCA2 | c.2169C>T (p.Ser723=) c.1800C>T (p.Ser600=) n.2169C>T | |
| 13 | g.32336524_32336525delinsCA | CA2082749962 | BRCA2 | c.2169_2170delinsCA (p.Ser723=) c.1800_1801delinsCA (p.Ser600=) n.2169_2170delinsCA | |
| 13 | g.32336524_32336525insT | CA915946981 | BRCA2 | c.2169_2170insT (p.Lys724Ter) c.1800_1801insT (p.Lys601Ter) n.2169_2170insT | ClinVar dbSNP |
| 13 | g.32336525A>C | CA387770291 | BRCA2 | c.2170A>C (p.Lys724Gln) c.1801A>C (p.Lys601Gln) n.2170A>C | |
| 13 | g.32336525A>G | CA387770294 | BRCA2 | c.2170A>G (p.Lys724Glu) c.1801A>G (p.Lys601Glu) n.2170A>G | |
| 13 | g.32336525A>T | CA387770288 | BRCA2 | c.2170A>T (p.Lys724Ter) c.1801A>T (p.Lys601Ter) n.2170A>T | ClinVar dbSNP |
| 13 | g.32336530dup | CA014516 | BRCA2 | c.2175dup (p.Val726SerfsTer25) c.1806dup (p.Val603SerfsTer25) n.2175dup | ClinVar dbSNP |
| 13 | g.32336530del | CA1139663108 | BRCA2 | c.2175del (p.Val726PhefsTer4) c.1806del (p.Val603PhefsTer4) n.2175del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336526A= | CA2082749976 | BRCA2 | c.2171A= (p.Lys724=) c.1802A= (p.Lys601=) n.2171A= | |
| 13 | g.32336526A>C | CA387770301 | BRCA2 | c.2171A>C (p.Lys724Thr) c.1802A>C (p.Lys601Thr) n.2171A>C | |
| 13 | g.32336526A>G | CA014500 | BRCA2 | c.2171A>G (p.Lys724Arg) c.1802A>G (p.Lys601Arg) n.2171A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336526A>T | CA387770304 | BRCA2 | c.2171A>T (p.Lys724Ile) c.1802A>T (p.Lys601Ile) n.2171A>T | dbSNP |
| 13 | g.32336527A>C | CA387770308 | BRCA2 | c.2172A>C (p.Lys724Asn) c.1803A>C (p.Lys601Asn) n.2172A>C | dbSNP |
| 13 | g.32336527A>G | CA483436823 | BRCA2 | c.2172A>G (p.Lys724=) c.1803A>G (p.Lys601=) n.2172A>G | |
| 13 | g.32336527A>T | CA387770310 | BRCA2 | c.2172A>T (p.Lys724Asn) c.1803A>T (p.Lys601Asn) n.2172A>T | dbSNP |
| 13 | g.32336528A= | CA2082749984 | BRCA2 | c.2173A= (p.Lys725=) c.1804A= (p.Lys602=) n.2173A= | |
| 13 | g.32336528A>C | CA387770314 | BRCA2 | c.2173A>C (p.Lys725Gln) c.1804A>C (p.Lys602Gln) n.2173A>C | ClinVar dbSNP |
| 13 | g.32336528A>G | CA014510 | BRCA2 | c.2173A>G (p.Lys725Glu) c.1804A>G (p.Lys602Glu) n.2173A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336528A>T | CA387770319 | BRCA2 | c.2173A>T (p.Lys725Ter) c.1804A>T (p.Lys602Ter) n.2173A>T | ClinVar dbSNP |
| 13 | g.32336529A>C | CA387770322 | BRCA2 | c.2174A>C (p.Lys725Thr) c.1805A>C (p.Lys602Thr) n.2174A>C | ClinVar dbSNP |
| 13 | g.32336529A>G | CA387770324 | BRCA2 | c.2174A>G (p.Lys725Arg) c.1805A>G (p.Lys602Arg) n.2174A>G | dbSNP |
| 13 | g.32336529A>T | CA387770325 | BRCA2 | c.2174A>T (p.Lys725Ile) c.1805A>T (p.Lys602Ile) n.2174A>T | dbSNP |
| 13 | g.32336530A= | CA2082749994 | BRCA2 | c.2175A= (p.Lys725=) c.1806A= (p.Lys602=) n.2175A= | |
| 13 | g.32336530A>C | CA387770327 | BRCA2 | c.2175A>C (p.Lys725Asn) c.1806A>C (p.Lys602Asn) n.2175A>C | ClinVar |
| 13 | g.32336530A>G | CA014522 | BRCA2 | c.2175A>G (p.Lys725=) c.1806A>G (p.Lys602=) n.2175A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336530A>T | CA014530 | BRCA2 | c.2175A>T (p.Lys725Asn) c.1806A>T (p.Lys602Asn) n.2175A>T | ClinVar dbSNP |
| 13 | g.32336530_32336531delinsAG | CA2082749996 | BRCA2 | c.2175_2176delinsAG (p.Lys725=) c.1806_1807delinsAG (p.Lys602=) n.2175_2176delinsAG | |
| 13 | g.32336531del | CA658683818 | BRCA2 | c.2176del (p.Val726PhefsTer4) c.1807del (p.Val603PhefsTer4) n.2176del | ClinVar dbSNP |
| 13 | g.32336531G>A | CA387770336 | BRCA2 | c.2176G>A (p.Val726Ile) c.1807G>A (p.Val603Ile) n.2176G>A | |
| 13 | g.32336531G>C | CA387770335 | BRCA2 | c.2176G>C (p.Val726Leu) c.1807G>C (p.Val603Leu) n.2176G>C | ClinVar gnomAD v4 |
| 13 | g.32336531G>T | CA387770333 | BRCA2 | c.2176G>T (p.Val726Phe) c.1807G>T (p.Val603Phe) n.2176G>T | |
| 13 | g.32336532T>A | CA387770339 | BRCA2 | c.2177T>A (p.Val726Asp) c.1808T>A (p.Val603Asp) n.2177T>A | dbSNP |
| 13 | g.32336532T>C | CA387770341 | BRCA2 | c.2177T>C (p.Val726Ala) c.1808T>C (p.Val603Ala) n.2177T>C | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336532T>G | CA387770344 | BRCA2 | c.2177T>G (p.Val726Gly) c.1808T>G (p.Val603Gly) n.2177T>G | dbSNP |
| 13 | g.32336532T= | CA2082750010 | BRCA2 | c.2177T= (p.Val726=) c.1808T= (p.Val603=) n.2177T= | |
| 13 | g.32336534del | CA2499222100 | BRCA2 | c.2179del (p.Ser727GlnfsTer3) c.1810del (p.Ser604GlnfsTer3) n.2179del | |
| 13 | g.32336533T>A | CA483436826 | BRCA2 | c.2178T>A (p.Val726=) c.1809T>A (p.Val603=) n.2178T>A | dbSNP |
| 13 | g.32336533T>C | CA483436825 | BRCA2 | c.2178T>C (p.Val726=) c.1809T>C (p.Val603=) n.2178T>C | |
| 13 | g.32336533T>G | CA483436824 | BRCA2 | c.2178T>G (p.Val726=) c.1809T>G (p.Val603=) n.2178T>G | |
| 13 | g.32336534T>A | CA387770349 | BRCA2 | c.2179T>A (p.Ser727Thr) c.1810T>A (p.Ser604Thr) n.2179T>A | dbSNP |
| 13 | g.32336534T>C | CA387770351 | BRCA2 | c.2179T>C (p.Ser727Pro) c.1810T>C (p.Ser604Pro) n.2179T>C | ClinVar |
| 13 | g.32336534T>G | CA387770355 | BRCA2 | c.2179T>G (p.Ser727Ala) c.1810T>G (p.Ser604Ala) n.2179T>G | |
| 13 | g.32336535C>A | CA387770362 | BRCA2 | c.2180C>A (p.Ser727Ter) c.1811C>A (p.Ser604Ter) n.2180C>A | dbSNP |
| 13 | g.32336535C= | CA2082750015 | BRCA2 | c.2180C= (p.Ser727=) c.1811C= (p.Ser604=) n.2180C= | |
| 13 | g.32336535C>G | CA387770364 | BRCA2 | c.2180C>G (p.Ser727Ter) c.1811C>G (p.Ser604Ter) n.2180C>G | dbSNP |
| 13 | g.32336535C>T | CA387770367 | BRCA2 | c.2180C>T (p.Ser727Leu) c.1811C>T (p.Ser604Leu) n.2180C>T | ClinVar dbSNP |
| 13 | g.32336536A= | CA2082750032 | BRCA2 | c.2181A= (p.Ser727=) c.1812A= (p.Ser604=) n.2181A= | |
| 13 | g.32336536A>C | CA483436827 | BRCA2 | c.2181A>C (p.Ser727=) c.1812A>C (p.Ser604=) n.2181A>C | ClinVar dbSNP |
| 13 | g.32336536A>G | CA10579527 | BRCA2 | c.2181A>G (p.Ser727=) c.1812A>G (p.Ser604=) n.2181A>G | ClinVar dbSNP |
| 13 | g.32336536A>T | CA483436828 | BRCA2 | c.2181A>T (p.Ser727=) c.1812A>T (p.Ser604=) n.2181A>T | dbSNP |
| 13 | g.32336536dup | CA2499222101 | BRCA2 | c.2181dup (p.Asp728ArgfsTer23) c.1812dup (p.Asp605ArgfsTer23) n.2181dup | |
| 13 | g.32336539_32336550dup | CA10576063 | BRCA2 | c.2184_2195dup (p.Glu731_Glu732insAspIleLysGlu) c.1815_1826dup (p.Glu608_Glu609insAspIleLysGlu) n.2184_2195dup | ClinVar dbSNP |
| 13 | g.32336537G>A | CA387770377 | BRCA2 | c.2182G>A (p.Asp728Asn) c.1813G>A (p.Asp605Asn) n.2182G>A | dbSNP |
| 13 | g.32336537G>C | CA387770380 | BRCA2 | c.2182G>C (p.Asp728His) c.1813G>C (p.Asp605His) n.2182G>C | |
| 13 | g.32336537G= | CA2082750039 | BRCA2 | c.2182G= (p.Asp728=) c.1813G= (p.Asp605=) n.2182G= | |
| 13 | g.32336537G>T | CA387770383 | BRCA2 | c.2182G>T (p.Asp728Tyr) c.1813G>T (p.Asp605Tyr) n.2182G>T | ClinVar dbSNP |
| 13 | g.32336538A= | CA2082750048 | BRCA2 | c.2183A= (p.Asp728=) c.1814A= (p.Asp605=) n.2183A= | |
| 13 | g.32336538A>C | CA6940586 | BRCA2 | c.2183A>C (p.Asp728Ala) c.1814A>C (p.Asp605Ala) n.2183A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336538A>G | CA387770387 | BRCA2 | c.2183A>G (p.Asp728Gly) c.1814A>G (p.Asp605Gly) n.2183A>G | |
| 13 | g.32336538A>T | CA387770385 | BRCA2 | c.2183A>T (p.Asp728Val) c.1814A>T (p.Asp605Val) n.2183A>T | ClinVar dbSNP |
| 13 | g.32336539T>A | CA387770391 | BRCA2 | c.2184T>A (p.Asp728Glu) c.1815T>A (p.Asp605Glu) n.2184T>A | dbSNP |
| 13 | g.32336539T>C | CA483436829 | BRCA2 | c.2184T>C (p.Asp728=) c.1815T>C (p.Asp605=) n.2184T>C | |
| 13 | g.32336539T>G | CA387770393 | BRCA2 | c.2184T>G (p.Asp728Glu) c.1815T>G (p.Asp605Glu) n.2184T>G | ClinVar dbSNP |
| 13 | g.32336540A= | CA2082750054 | BRCA2 | c.2185A= (p.Ile729=) c.1816A= (p.Ile606=) n.2185A= | |
| 13 | g.32336540A>C | CA387770396 | BRCA2 | c.2185A>C (p.Ile729Leu) c.1816A>C (p.Ile606Leu) n.2185A>C | |
| 13 | g.32336540A>G | CA014554 | BRCA2 | c.2185A>G (p.Ile729Val) c.1816A>G (p.Ile606Val) n.2185A>G | ClinVar dbSNP |
| 13 | g.32336540A>T | CA387770400 | BRCA2 | c.2185A>T (p.Ile729Leu) c.1816A>T (p.Ile606Leu) n.2185A>T | dbSNP |
| 13 | g.32336541T>A | CA387770402 | BRCA2 | c.2186T>A (p.Ile729Lys) c.1817T>A (p.Ile606Lys) n.2186T>A | |
| 13 | g.32336541T>C | CA014563 | BRCA2 | c.2186T>C (p.Ile729Thr) c.1817T>C (p.Ile606Thr) n.2186T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336541T>G | CA387770406 | BRCA2 | c.2186T>G (p.Ile729Arg) c.1817T>G (p.Ile606Arg) n.2186T>G | ClinVar |
| 13 | g.32336541T= | CA2082750062 | BRCA2 | c.2186T= (p.Ile729=) c.1817T= (p.Ile606=) n.2186T= | |
| 13 | g.32336542A= | CA2082750069 | BRCA2 | c.2187A= (p.Ile729=) c.1818A= (p.Ile606=) n.2187A= | |
| 13 | g.32336542A>C | CA483436830 | BRCA2 | c.2187A>C (p.Ile729=) c.1818A>C (p.Ile606=) n.2187A>C | |
| 13 | g.32336542A>G | CA014573 | BRCA2 | c.2187A>G (p.Ile729Met) c.1818A>G (p.Ile606Met) n.2187A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336542A>T | CA483436831 | BRCA2 | c.2187A>T (p.Ile729=) c.1818A>T (p.Ile606=) n.2187A>T | dbSNP |
| 13 | g.32336542_32336548del | CA2573149367 | BRCA2 | c.2187_2193del (p.Ile729MetfsTer?) c.1818_1824del (p.Ile606MetfsTer?) n.2187_2193del | dbSNP |
| 13 | g.32336544_32336548del | CA2697551721 | BRCA2 | c.2189_2193del (p.Lys730ArgfsTer19) c.1820_1824del (p.Lys607ArgfsTer19) n.2189_2193del | ClinVar |
| 13 | g.32336542_32336543insC | CA919242525 | BRCA2 | c.2187_2188insC (p.Lys730GlnfsTer21) c.1818_1819insC (p.Lys607GlnfsTer21) n.2187_2188insC | dbSNP |
| 13 | g.32336543A= | CA2082750078 | BRCA2 | c.2188A= (p.Lys730=) c.1819A= (p.Lys607=) n.2188A= | |
| 13 | g.32336543A>C | CA387770420 | BRCA2 | c.2188A>C (p.Lys730Gln) c.1819A>C (p.Lys607Gln) n.2188A>C | |
| 13 | g.32336543A>G | CA387770416 | BRCA2 | c.2188A>G (p.Lys730Glu) c.1819A>G (p.Lys607Glu) n.2188A>G | ClinVar dbSNP |
| 13 | g.32336543A>T | CA387770418 | BRCA2 | c.2188A>T (p.Lys730Ter) c.1819A>T (p.Lys607Ter) n.2188A>T | |
| 13 | g.32336543_32336544insC | CA2695217996 | BRCA2 | c.2188_2189insC (p.Lys730ThrfsTer21) c.1819_1820insC (p.Lys607ThrfsTer21) n.2188_2189insC | |
| 13 | g.32336544A>C | CA387770423 | BRCA2 | c.2189A>C (p.Lys730Thr) c.1820A>C (p.Lys607Thr) n.2189A>C | |
| 13 | g.32336544A>G | CA387770426 | BRCA2 | c.2189A>G (p.Lys730Arg) c.1820A>G (p.Lys607Arg) n.2189A>G | dbSNP |
| 13 | g.32336544A>T | CA387770428 | BRCA2 | c.2189A>T (p.Lys730Ile) c.1820A>T (p.Lys607Ile) n.2189A>T | gnomAD v4 |
| 13 | g.32336544_32336549delinsAAGAAG | CA2082750092 | BRCA2 | c.2189_2194delinsAAGAAG (p.Lys730=) c.1820_1825delinsAAGAAG (p.Lys607=) n.2189_2194delinsAAGAAG | |
| 13 | g.32336545A>C | CA387770430 | BRCA2 | c.2190A>C (p.Lys730Asn) c.1821A>C (p.Lys607Asn) n.2190A>C | |
| 13 | g.32336545A>G | CA483436832 | BRCA2 | c.2190A>G (p.Lys730=) c.1821A>G (p.Lys607=) n.2190A>G | ClinVar |
| 13 | g.32336545A>T | CA387770432 | BRCA2 | c.2190A>T (p.Lys730Asn) c.1821A>T (p.Lys607Asn) n.2190A>T | |
| 13 | g.32336547_32336551del | CA16619667 | BRCA2 | c.2192_2196del (p.Glu731GlyfsTer18) c.1823_1827del (p.Glu608GlyfsTer18) n.2192_2196del | ClinVar dbSNP |
| 13 | g.32336546G>A | CA387770437 | BRCA2 | c.2191G>A (p.Glu731Lys) c.1822G>A (p.Glu608Lys) n.2191G>A | dbSNP |
| 13 | g.32336546G>C | CA387770434 | BRCA2 | c.2191G>C (p.Glu731Gln) c.1822G>C (p.Glu608Gln) n.2191G>C | ClinVar dbSNP |
| 13 | g.32336546G>T | CA387770436 | BRCA2 | c.2191G>T (p.Glu731Ter) c.1822G>T (p.Glu608Ter) n.2191G>T | dbSNP |
| 13 | g.32336547A>C | CA387770442 | BRCA2 | c.2192A>C (p.Glu731Ala) c.1823A>C (p.Glu608Ala) n.2192A>C | |
| 13 | g.32336547A>G | CA387770447 | BRCA2 | c.2192A>G (p.Glu731Gly) c.1823A>G (p.Glu608Gly) n.2192A>G | |
| 13 | g.32336547A>T | CA387770449 | BRCA2 | c.2192A>T (p.Glu731Val) c.1823A>T (p.Glu608Val) n.2192A>T | |
| 13 | g.32336548A= | CA2082750102 | BRCA2 | c.2193A= (p.Glu731=) c.1824A= (p.Glu608=) n.2193A= | |
| 13 | g.32336548A>C | CA387770451 | BRCA2 | c.2193A>C (p.Glu731Asp) c.1824A>C (p.Glu608Asp) n.2193A>C | |
| 13 | g.32336548A>G | CA483436833 | BRCA2 | c.2193A>G (p.Glu731=) c.1824A>G (p.Glu608=) n.2193A>G | |
| 13 | g.32336548A>T | CA387770454 | BRCA2 | c.2193A>T (p.Glu731Asp) c.1824A>T (p.Glu608Asp) n.2193A>T | |
| 13 | g.32336549G>A | CA387770457 | BRCA2 | c.2194G>A (p.Glu732Lys) c.1825G>A (p.Glu609Lys) n.2194G>A | ClinVar dbSNP |
| 13 | g.32336549G>C | CA387770462 | BRCA2 | c.2194G>C (p.Glu732Gln) c.1825G>C (p.Glu609Gln) n.2194G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32336549G= | CA2082750111 | BRCA2 | c.2194G= (p.Glu732=) c.1825G= (p.Glu609=) n.2194G= | |
| 13 | g.32336549G>T | CA387770465 | BRCA2 | c.2194G>T (p.Glu732Ter) c.1825G>T (p.Glu609Ter) n.2194G>T | dbSNP |
| 13 | g.32336549_32336554dup | CA915946982 | BRCA2 | c.2194_2199dup (p.Val733_Leu734insGluVal) c.1825_1830dup (p.Val610_Leu611insGluVal) n.2194_2199dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336550A= | CA2082750119 | BRCA2 | c.2195A= (p.Glu732=) c.1826A= (p.Glu609=) n.2195A= | |
| 13 | g.32336550A>C | CA387770468 | BRCA2 | c.2195A>C (p.Glu732Ala) c.1826A>C (p.Glu609Ala) n.2195A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336550A>G | CA387770472 | BRCA2 | c.2195A>G (p.Glu732Gly) c.1826A>G (p.Glu609Gly) n.2195A>G | dbSNP |
| 13 | g.32336550A>T | CA387770474 | BRCA2 | c.2195A>T (p.Glu732Val) c.1826A>T (p.Glu609Val) n.2195A>T | dbSNP |
| 13 | g.32336550_32336551delinsAG | CA2082750125 | BRCA2 | c.2195_2196delinsAG (p.Glu732=) c.1826_1827delinsAG (p.Glu609=) n.2195_2196delinsAG | |
| 13 | g.32336551G>A | CA483436834 | BRCA2 | c.2196G>A (p.Glu732=) c.1827G>A (p.Glu609=) n.2196G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336551G>C | CA387770475 | BRCA2 | c.2196G>C (p.Glu732Asp) c.1827G>C (p.Glu609Asp) n.2196G>C | dbSNP |
| 13 | g.32336551G= | CA2082750142 | BRCA2 | c.2196G= (p.Glu732=) c.1827G= (p.Glu609=) n.2196G= | |
| 13 | g.32336551G>T | CA387770476 | BRCA2 | c.2196G>T (p.Glu732Asp) c.1827G>T (p.Glu609Asp) n.2196G>T | dbSNP |
| 13 | g.32336552del | CA10589139 | BRCA2 | c.2197del (p.Val733SerfsTer?) c.1828del (p.Val610SerfsTer?) n.2197del | ClinVar dbSNP |
| 13 | g.32336552G>A | CA10579528 | BRCA2 | c.2197G>A (p.Val733Ile) c.1828G>A (p.Val610Ile) n.2197G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336552G>C | CA387770480 | BRCA2 | c.2197G>C (p.Val733Leu) c.1828G>C (p.Val610Leu) n.2197G>C | ClinVar dbSNP |
| 13 | g.32336552G= | CA2082750153 | BRCA2 | c.2197G= (p.Val733=) c.1828G= (p.Val610=) n.2197G= | |
| 13 | g.32336552G>T | CA387770484 | BRCA2 | c.2197G>T (p.Val733Phe) c.1828G>T (p.Val610Phe) n.2197G>T | ClinVar dbSNP |
| 13 | g.32336553T>A | CA387770488 | BRCA2 | c.2198T>A (p.Val733Asp) c.1829T>A (p.Val610Asp) n.2198T>A | dbSNP |
| 13 | g.32336553T>C | CA387770491 | BRCA2 | c.2198T>C (p.Val733Ala) c.1829T>C (p.Val610Ala) n.2198T>C | |
| 13 | g.32336553T>G | CA387770493 | BRCA2 | c.2198T>G (p.Val733Gly) c.1829T>G (p.Val610Gly) n.2198T>G | ClinVar dbSNP |
| 13 | g.32336553T= | CA2082750158 | BRCA2 | c.2198T= (p.Val733=) c.1829T= (p.Val610=) n.2198T= | |
| 13 | g.32336554C>A | CA483436835 | BRCA2 | c.2199C>A (p.Val733=) c.1830C>A (p.Val610=) n.2199C>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336554C= | CA2082750164 | BRCA2 | c.2199C= (p.Val733=) c.1830C= (p.Val610=) n.2199C= | |
| 13 | g.32336554C>G | CA483436836 | BRCA2 | c.2199C>G (p.Val733=) c.1830C>G (p.Val610=) n.2199C>G | ClinVar dbSNP |
| 13 | g.32336554C>T | CA483436837 | BRCA2 | c.2199C>T (p.Val733=) c.1830C>T (p.Val610=) n.2199C>T | dbSNP |
| 13 | g.32336555T>A | CA387770496 | BRCA2 | c.2200T>A (p.Leu734Met) c.1831T>A (p.Leu611Met) n.2200T>A | dbSNP |
| 13 | g.32336555T>C | CA483436838 | BRCA2 | c.2200T>C (p.Leu734=) c.1831T>C (p.Leu611=) n.2200T>C | ClinVar dbSNP |
| 13 | g.32336555T>G | CA387770500 | BRCA2 | c.2200T>G (p.Leu734Val) c.1831T>G (p.Leu611Val) n.2200T>G | |
| 13 | g.32336555T= | CA2082750172 | BRCA2 | c.2200T= (p.Leu734=) c.1831T= (p.Leu611=) n.2200T= | |
| 13 | g.32336556T>A | CA387770502 | BRCA2 | c.2201T>A (p.Leu734Ter) c.1832T>A (p.Leu611Ter) n.2201T>A | |
| 13 | g.32336556T>C | CA387770504 | BRCA2 | c.2201T>C (p.Leu734Ser) c.1832T>C (p.Leu611Ser) n.2201T>C | ClinVar |
| 13 | g.32336556T>G | CA387770508 | BRCA2 | c.2201T>G (p.Leu734Trp) c.1832T>G (p.Leu611Trp) n.2201T>G | |
| 13 | g.32336556T= | CA2082750178 | BRCA2 | c.2201T= (p.Leu734=) c.1832T= (p.Leu611=) n.2201T= | |
| 13 | g.32336556_32336557insAA | CA658823614 | BRCA2 | c.2201_2202insAA (p.Ala735ArgfsTer?) c.1832_1833insAA (p.Ala612ArgfsTer?) n.2201_2202insAA | ClinVar dbSNP |
| 13 | g.32336557G>A | CA483436839 | BRCA2 | c.2202G>A (p.Leu734=) c.1833G>A (p.Leu611=) n.2202G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336557G>C | CA387770512 | BRCA2 | c.2202G>C (p.Leu734Phe) c.1833G>C (p.Leu611Phe) n.2202G>C | ClinVar dbSNP |
| 13 | g.32336557G= | CA2082750189 | BRCA2 | c.2202G= (p.Leu734=) c.1833G= (p.Leu611=) n.2202G= | |
| 13 | g.32336557G>T | CA387770514 | BRCA2 | c.2202G>T (p.Leu734Phe) c.1833G>T (p.Leu611Phe) n.2202G>T | ClinVar dbSNP |
| 13 | g.32336557_32336558insAA | CA10589140 | BRCA2 | c.2202_2203insAA (p.Ala735LysfsTer?) c.1833_1834insAA (p.Ala612LysfsTer?) n.2202_2203insAA | ClinVar dbSNP |
| 13 | g.32336558G>A | CA387770527 | BRCA2 | c.2203G>A (p.Ala735Thr) c.1834G>A (p.Ala612Thr) n.2203G>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336558G>C | CA387770525 | BRCA2 | c.2203G>C (p.Ala735Pro) c.1834G>C (p.Ala612Pro) n.2203G>C | dbSNP |
| 13 | g.32336558G>T | CA387770521 | BRCA2 | c.2203G>T (p.Ala735Ser) c.1834G>T (p.Ala612Ser) n.2203G>T | dbSNP COSMIC COSMIC |
| 13 | g.32336559C>A | CA387770532 | BRCA2 | c.2204C>A (p.Ala735Asp) c.1835C>A (p.Ala612Asp) n.2204C>A | dbSNP |
| 13 | g.32336559C= | CA2082750202 | BRCA2 | c.2204C= (p.Ala735=) c.1835C= (p.Ala612=) n.2204C= | |
| 13 | g.32336559C>G | CA387770535 | BRCA2 | c.2204C>G (p.Ala735Gly) c.1835C>G (p.Ala612Gly) n.2204C>G | ClinVar dbSNP |
| 13 | g.32336559C>T | CA387770537 | BRCA2 | c.2204C>T (p.Ala735Val) c.1835C>T (p.Ala612Val) n.2204C>T | dbSNP |
| 13 | g.32336559dup | CA2573149369 | BRCA2 | c.2204dup (p.Ala736CysfsTer15) c.1835dup (p.Ala613CysfsTer15) n.2204dup | ClinVar dbSNP |
| 13 | g.32336559_32336560delinsCT | CA2082750205 | BRCA2 | c.2204_2205delinsCT (p.Ala735=) c.1835_1836delinsCT (p.Ala612=) n.2204_2205delinsCT | |
| 13 | g.32336560del | CA915946983 | BRCA2 | c.2205del (p.Ala736GlnfsTer?) c.1836del (p.Ala613GlnfsTer?) n.2205del | ClinVar dbSNP |
| 13 | g.32336560T>A | CA483436840 | BRCA2 | c.2205T>A (p.Ala735=) c.1836T>A (p.Ala612=) n.2205T>A | dbSNP |
| 13 | g.32336560T>C | CA483436841 | BRCA2 | c.2205T>C (p.Ala735=) c.1836T>C (p.Ala612=) n.2205T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336560T>G | CA483436842 | BRCA2 | c.2205T>G (p.Ala735=) c.1836T>G (p.Ala612=) n.2205T>G | dbSNP |
| 13 | g.32336560T= | CA2082750219 | BRCA2 | c.2205T= (p.Ala735=) c.1836T= (p.Ala612=) n.2205T= | |
| 13 | g.32336560_32336561delinsTG | CA2082750218 | BRCA2 | c.2205_2206delinsTG (p.Ala735=) c.1836_1837delinsTG (p.Ala612=) n.2205_2206delinsTG | |
| 13 | g.32336561del | CA10589141 | BRCA2 | c.2206del (p.Ala736GlnfsTer?) c.1837del (p.Ala613GlnfsTer?) n.2206del | ClinVar dbSNP |
| 13 | g.32336561G>A | CA014584 | BRCA2 | c.2206G>A (p.Ala736Thr) c.1837G>A (p.Ala613Thr) n.2206G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336561G>C | CA387770543 | BRCA2 | c.2206G>C (p.Ala736Pro) c.1837G>C (p.Ala613Pro) n.2206G>C | dbSNP |
| 13 | g.32336561G= | CA2082750246 | BRCA2 | c.2206G= (p.Ala736=) c.1837G= (p.Ala613=) n.2206G= | |
| 13 | g.32336561G>T | CA387770546 | BRCA2 | c.2206G>T (p.Ala736Ser) c.1837G>T (p.Ala613Ser) n.2206G>T | dbSNP |
| 13 | g.32336561_32336569delinsGCAGCATGT | CA2082750252 | BRCA2 | c.2206_2214delinsGCAGCATGT (p.Ala736=) c.1837_1845delinsGCAGCATGT (p.Ala613=) n.2206_2214delinsGCAGCATGT | |
| 13 | g.32336562C>A | CA387770558 | BRCA2 | c.2207C>A (p.Ala736Glu) c.1838C>A (p.Ala613Glu) n.2207C>A | dbSNP |
| 13 | g.32336562C= | CA2082750265 | BRCA2 | c.2207C= (p.Ala736=) c.1838C= (p.Ala613=) n.2207C= | |
| 13 | g.32336562C>G | CA387770560 | BRCA2 | c.2207C>G (p.Ala736Gly) c.1838C>G (p.Ala613Gly) n.2207C>G | dbSNP |
| 13 | g.32336562C>T | CA6940587 | BRCA2 | c.2207C>T (p.Ala736Val) c.1838C>T (p.Ala613Val) n.2207C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336562_32336563delinsCA | CA2082750256 | BRCA2 | c.2207_2208delinsCA (p.Ala736=) c.1838_1839delinsCA (p.Ala613=) n.2207_2208delinsCA | |
| 13 | g.32336564_32336571del | CA10589143 | BRCA2 | c.2209_2216del (p.Ala737ProfsTer11) c.1840_1847del (p.Ala614ProfsTer11) n.2209_2216del | ClinVar dbSNP |
| 13 | g.32336563del | CA10589142 | BRCA2 | c.2208del (p.Ala737HisfsTer?) c.1839del (p.Ala614HisfsTer?) n.2208del | ClinVar dbSNP |
| 13 | g.32336563A= | CA2082750272 | BRCA2 | c.2208A= (p.Ala736=) c.1839A= (p.Ala613=) n.2208A= | |
| 13 | g.32336563A>C | CA483436845 | BRCA2 | c.2208A>C (p.Ala736=) c.1839A>C (p.Ala613=) n.2208A>C | |
| 13 | g.32336563A>G | CA014590 | BRCA2 | c.2208A>G (p.Ala736=) c.1839A>G (p.Ala613=) n.2208A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336563A>T | CA483436846 | BRCA2 | c.2208A>T (p.Ala736=) c.1839A>T (p.Ala613=) n.2208A>T | dbSNP |
| 13 | g.32336564G>A | CA387770565 | BRCA2 | c.2209G>A (p.Ala737Thr) c.1840G>A (p.Ala614Thr) n.2209G>A | dbSNP |
| 13 | g.32336564G>C | CA387770567 | BRCA2 | c.2209G>C (p.Ala737Pro) c.1840G>C (p.Ala614Pro) n.2209G>C | dbSNP |
| 13 | g.32336564G= | CA2082750280 | BRCA2 | c.2209G= (p.Ala737=) c.1840G= (p.Ala614=) n.2209G= | |
| 13 | g.32336564G>T | CA014600 | BRCA2 | c.2209G>T (p.Ala737Ser) c.1840G>T (p.Ala614Ser) n.2209G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336565C>A | CA387770577 | BRCA2 | c.2210C>A (p.Ala737Glu) c.1841C>A (p.Ala614Glu) n.2210C>A | ClinVar dbSNP |
| 13 | g.32336565C= | CA2082750288 | BRCA2 | c.2210C= (p.Ala737=) c.1841C= (p.Ala614=) n.2210C= | |
| 13 | g.32336565C>G | CA10579529 | BRCA2 | c.2210C>G (p.Ala737Gly) c.1841C>G (p.Ala614Gly) n.2210C>G | ClinVar dbSNP |
| 13 | g.32336565C>T | CA387770572 | BRCA2 | c.2210C>T (p.Ala737Val) c.1841C>T (p.Ala614Val) n.2210C>T | dbSNP |
| 13 | g.32336566A= | CA2082750300 | BRCA2 | c.2211A= (p.Ala737=) c.1842A= (p.Ala614=) n.2211A= | |
| 13 | g.32336566A>C | CA014606 | BRCA2 | c.2211A>C (p.Ala737=) c.1842A>C (p.Ala614=) n.2211A>C | ClinVar dbSNP |
| 13 | g.32336566A>G | CA014614 | BRCA2 | c.2211A>G (p.Ala737=) c.1842A>G (p.Ala614=) n.2211A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336566A>T | CA483436847 | BRCA2 | c.2211A>T (p.Ala737=) c.1842A>T (p.Ala614=) n.2211A>T | ClinVar dbSNP |
| 13 | g.32336567T>A | CA387770587 | BRCA2 | c.2212T>A (p.Cys738Ser) c.1843T>A (p.Cys615Ser) n.2212T>A | dbSNP |
| 13 | g.32336567T>C | CA387770588 | BRCA2 | c.2212T>C (p.Cys738Arg) c.1843T>C (p.Cys615Arg) n.2212T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336567T>G | CA387770591 | BRCA2 | c.2212T>G (p.Cys738Gly) c.1843T>G (p.Cys615Gly) n.2212T>G | ClinVar dbSNP |
| 13 | g.32336567dup | CA014625 | BRCA2 | c.2212dup (p.Cys738LeufsTer13) c.1843dup (p.Cys615LeufsTer13) n.2212dup | ClinVar dbSNP |
| 13 | g.32336568G>A | CA387770594 | BRCA2 | c.2213G>A (p.Cys738Tyr) c.1844G>A (p.Cys615Tyr) n.2213G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336568G>C | CA387770596 | BRCA2 | c.2213G>C (p.Cys738Ser) c.1844G>C (p.Cys615Ser) n.2213G>C | dbSNP |
| 13 | g.32336568G= | CA2082750315 | BRCA2 | c.2213G= (p.Cys738=) c.1844G= (p.Cys615=) n.2213G= | |
| 13 | g.32336568G>T | CA387770598 | BRCA2 | c.2213G>T (p.Cys738Phe) c.1844G>T (p.Cys615Phe) n.2213G>T | |
| 13 | g.32336569T>A | CA014637 | BRCA2 | c.2214T>A (p.Cys738Ter) c.1845T>A (p.Cys615Ter) n.2214T>A | ClinVar dbSNP |
| 13 | g.32336569T>C | CA483436848 | BRCA2 | c.2214T>C (p.Cys738=) c.1845T>C (p.Cys615=) n.2214T>C | dbSNP |
| 13 | g.32336569T>G | CA387770613 | BRCA2 | c.2214T>G (p.Cys738Trp) c.1845T>G (p.Cys615Trp) n.2214T>G | dbSNP |
| 13 | g.32336569T= | CA2082750322 | BRCA2 | c.2214T= (p.Cys738=) c.1845T= (p.Cys615=) n.2214T= | |
| 13 | g.32336570C>A | CA387770623 | BRCA2 | c.2215C>A (p.His739Asn) c.1846C>A (p.His616Asn) n.2215C>A | dbSNP |
| 13 | g.32336570C= | CA2082750332 | BRCA2 | c.2215C= (p.His739=) c.1846C= (p.His616=) n.2215C= | |
| 13 | g.32336570C>G | CA387770616 | BRCA2 | c.2215C>G (p.His739Asp) c.1846C>G (p.His616Asp) n.2215C>G | ClinVar dbSNP |
| 13 | g.32336570C>T | CA387770621 | BRCA2 | c.2215C>T (p.His739Tyr) c.1846C>T (p.His616Tyr) n.2215C>T | ClinVar dbSNP |
| 13 | g.32336571A>C | CA387770626 | BRCA2 | c.2216A>C (p.His739Pro) c.1847A>C (p.His616Pro) n.2216A>C | dbSNP |
| 13 | g.32336571A>G | CA387770629 | BRCA2 | c.2216A>G (p.His739Arg) c.1847A>G (p.His616Arg) n.2216A>G | |
| 13 | g.32336571A>T | CA387770641 | BRCA2 | c.2216A>T (p.His739Leu) c.1847A>T (p.His616Leu) n.2216A>T | |
| 13 | g.32336572C>A | CA387770646 | BRCA2 | c.2217C>A (p.His739Gln) c.1848C>A (p.His616Gln) n.2217C>A | dbSNP |
| 13 | g.32336572C= | CA2082750338 | BRCA2 | c.2217C= (p.His739=) c.1848C= (p.His616=) n.2217C= | |
| 13 | g.32336572C>G | CA387770650 | BRCA2 | c.2217C>G (p.His739Gln) c.1848C>G (p.His616Gln) n.2217C>G | ClinVar dbSNP |
| 13 | g.32336572C>T | CA483436850 | BRCA2 | c.2217C>T (p.His739=) c.1848C>T (p.His616=) n.2217C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336573C>A | CA387770653 | BRCA2 | c.2218C>A (p.Pro740Thr) c.1849C>A (p.Pro617Thr) n.2218C>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336573C>G | CA387770655 | BRCA2 | c.2218C>G (p.Pro740Ala) c.1849C>G (p.Pro617Ala) n.2218C>G | ClinVar dbSNP |
| 13 | g.32336573C>T | CA387770659 | BRCA2 | c.2218C>T (p.Pro740Ser) c.1849C>T (p.Pro617Ser) n.2218C>T | ClinVar dbSNP |
| 13 | g.32336574C>A | CA387770663 | BRCA2 | c.2219C>A (p.Pro740Gln) c.1850C>A (p.Pro617Gln) n.2219C>A | dbSNP |
| 13 | g.32336574C>G | CA387770666 | BRCA2 | c.2219C>G (p.Pro740Arg) c.1850C>G (p.Pro617Arg) n.2219C>G | dbSNP |
| 13 | g.32336574C>T | CA387770668 | BRCA2 | c.2219C>T (p.Pro740Leu) c.1850C>T (p.Pro617Leu) n.2219C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336575A>C | CA483436853 | BRCA2 | c.2220A>C (p.Pro740=) c.1851A>C (p.Pro617=) n.2220A>C | |
| 13 | g.32336575A>G | CA483436855 | BRCA2 | c.2220A>G (p.Pro740=) c.1851A>G (p.Pro617=) n.2220A>G | |
| 13 | g.32336575A>T | CA483436854 | BRCA2 | c.2220A>T (p.Pro740=) c.1851A>T (p.Pro617=) n.2220A>T | dbSNP gnomAD v4 |
| 13 | g.32336576G>A | CA387770676 | BRCA2 | c.2221G>A (p.Val741Ile) c.1852G>A (p.Val618Ile) n.2221G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336576G>C | CA387770674 | BRCA2 | c.2221G>C (p.Val741Leu) c.1852G>C (p.Val618Leu) n.2221G>C | ClinVar dbSNP |
| 13 | g.32336576G= | CA2082750354 | BRCA2 | c.2221G= (p.Val741=) c.1852G= (p.Val618=) n.2221G= | |
| 13 | g.32336576G>T | CA014641 | BRCA2 | c.2221G>T (p.Val741Leu) c.1852G>T (p.Val618Leu) n.2221G>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336577T>A | CA387770679 | BRCA2 | c.2222T>A (p.Val741Glu) c.1853T>A (p.Val618Glu) n.2222T>A | dbSNP |
| 13 | g.32336577T>C | CA387770684 | BRCA2 | c.2222T>C (p.Val741Ala) c.1853T>C (p.Val618Ala) n.2222T>C | dbSNP |
| 13 | g.32336577T>G | CA387770693 | BRCA2 | c.2222T>G (p.Val741Gly) c.1853T>G (p.Val618Gly) n.2222T>G | dbSNP |
| 13 | g.32336580_32336607dup | CA2580087250 | BRCA2 | c.2225_2252dup (p.Asp752ThrfsTer8) c.1856_1883dup (p.Asp629ThrfsTer8) n.2225_2252dup | ClinVar |
| 13 | g.32336578A>C | CA483436857 | BRCA2 | c.2223A>C (p.Val741=) c.1854A>C (p.Val618=) n.2223A>C | dbSNP |
| 13 | g.32336578A>G | CA483436859 | BRCA2 | c.2223A>G (p.Val741=) c.1854A>G (p.Val618=) n.2223A>G | dbSNP |
| 13 | g.32336578A>T | CA483436860 | BRCA2 | c.2223A>T (p.Val741=) c.1854A>T (p.Val618=) n.2223A>T | dbSNP |
| 13 | g.32336579C>A | CA014659 | BRCA2 | c.2224C>A (p.Gln742Lys) c.1855C>A (p.Gln619Lys) n.2224C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336579C= | CA2082750374 | BRCA2 | c.2224C= (p.Gln742=) c.1855C= (p.Gln619=) n.2224C= | |
| 13 | g.32336579C>G | CA387770696 | BRCA2 | c.2224C>G (p.Gln742Glu) c.1855C>G (p.Gln619Glu) n.2224C>G | ClinVar dbSNP gnomAD v2 |
| 13 | g.32336579C>T | CA014670 | BRCA2 | c.2224C>T (p.Gln742Ter) c.1855C>T (p.Gln619Ter) n.2224C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.32336579_32336580delinsCA | CA2082750372 | BRCA2 | c.2224_2225delinsCA (p.Gln742=) c.1855_1856delinsCA (p.Gln619=) n.2224_2225delinsCA | |
| 13 | g.32336580A= | CA2082750387 | BRCA2 | c.2225A= (p.Gln742=) c.1856A= (p.Gln619=) n.2225A= | |
| 13 | g.32336580A>C | CA387770701 | BRCA2 | c.2225A>C (p.Gln742Pro) c.1856A>C (p.Gln619Pro) n.2225A>C | |
| 13 | g.32336580A>G | CA387770705 | BRCA2 | c.2225A>G (p.Gln742Arg) c.1856A>G (p.Gln619Arg) n.2225A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336580A>T | CA387770709 | BRCA2 | c.2225A>T (p.Gln742Leu) c.1856A>T (p.Gln619Leu) n.2225A>T | dbSNP |
| 13 | g.32336581del | CA10586499 | BRCA2 | c.2226del (p.Gln742HisfsTer30) c.1857del (p.Gln619HisfsTer30) n.2226del | ClinVar dbSNP |
| 13 | g.32336581A= | CA2082750398 | BRCA2 | c.2226A= (p.Gln742=) c.1857A= (p.Gln619=) n.2226A= | |
| 13 | g.32336581A>C | CA387770714 | BRCA2 | c.2226A>C (p.Gln742His) c.1857A>C (p.Gln619His) n.2226A>C | dbSNP gnomAD v4 |
| 13 | g.32336581A>G | CA014680 | BRCA2 | c.2226A>G (p.Gln742=) c.1857A>G (p.Gln619=) n.2226A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336581A>T | CA387770722 | BRCA2 | c.2226A>T (p.Gln742His) c.1857A>T (p.Gln619His) n.2226A>T | ClinVar dbSNP |
| 13 | g.32336582C>A | CA387770733 | BRCA2 | c.2227C>A (p.His743Asn) c.1858C>A (p.His620Asn) n.2227C>A | dbSNP |
| 13 | g.32336582C= | CA2082750407 | BRCA2 | c.2227C= (p.His743=) c.1858C= (p.His620=) n.2227C= | |
| 13 | g.32336582C>G | CA387770727 | BRCA2 | c.2227C>G (p.His743Asp) c.1858C>G (p.His620Asp) n.2227C>G | dbSNP |
| 13 | g.32336582C>T | CA387770729 | BRCA2 | c.2227C>T (p.His743Tyr) c.1858C>T (p.His620Tyr) n.2227C>T | dbSNP |
| 13 | g.32336583A>C | CA387770737 | BRCA2 | c.2228A>C (p.His743Pro) c.1859A>C (p.His620Pro) n.2228A>C | |
| 13 | g.32336583A>G | CA387770741 | BRCA2 | c.2228A>G (p.His743Arg) c.1859A>G (p.His620Arg) n.2228A>G | |
| 13 | g.32336583A>T | CA387770744 | BRCA2 | c.2228A>T (p.His743Leu) c.1859A>T (p.His620Leu) n.2228A>T | |
| 13 | g.32336584T>A | CA387770751 | BRCA2 | c.2229T>A (p.His743Gln) c.1860T>A (p.His620Gln) n.2229T>A | |
| 13 | g.32336584T>C | CA014685 | BRCA2 | c.2229T>C (p.His743=) c.1860T>C (p.His620=) n.2229T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336584T>G | CA387770764 | BRCA2 | c.2229T>G (p.His743Gln) c.1860T>G (p.His620Gln) n.2229T>G | |
| 13 | g.32336584T= | CA2018046977 | BRCA2 | c.2229T= (p.His743=) c.1860T= (p.His620=) n.2229T= | |
| 13 | g.32336585dup | CA658761155 | BRCA2 | c.2230dup (p.Ser744PhefsTer7) c.1861dup (p.Ser621PhefsTer7) n.2230dup | |
| 13 | g.32336585T>A | CA387770766 | BRCA2 | c.2230T>A (p.Ser744Thr) c.1861T>A (p.Ser621Thr) n.2230T>A | dbSNP |
| 13 | g.32336585T>C | CA387770770 | BRCA2 | c.2230T>C (p.Ser744Pro) c.1861T>C (p.Ser621Pro) n.2230T>C | |
| 13 | g.32336585T>G | CA387770772 | BRCA2 | c.2230T>G (p.Ser744Ala) c.1861T>G (p.Ser621Ala) n.2230T>G | |
| 13 | g.32336586C>A | CA10579530 | BRCA2 | c.2231C>A (p.Ser744Ter) c.1862C>A (p.Ser621Ter) n.2231C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336586C= | CA2082750425 | BRCA2 | c.2231C= (p.Ser744=) c.1862C= (p.Ser621=) n.2231C= | |
| 13 | g.32336586C>G | CA014691 | BRCA2 | c.2231C>G (p.Ser744Ter) c.1862C>G (p.Ser621Ter) n.2231C>G | ClinVar dbSNP |
| 13 | g.32336586C>T | CA014700 | BRCA2 | c.2231C>T (p.Ser744Leu) c.1862C>T (p.Ser621Leu) n.2231C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336586_32336587delinsCA | CA2082750437 | BRCA2 | c.2231_2232delinsCA (p.Ser744=) c.1862_1863delinsCA (p.Ser621=) n.2231_2232delinsCA | |
| 13 | g.32336587A>C | CA483436940 | BRCA2 | c.2232A>C (p.Ser744=) c.1863A>C (p.Ser621=) n.2232A>C | ClinVar gnomAD v4 |
| 13 | g.32336587A>G | CA483436941 | BRCA2 | c.2232A>G (p.Ser744=) c.1863A>G (p.Ser621=) n.2232A>G | dbSNP |
| 13 | g.32336587A>T | CA483436942 | BRCA2 | c.2232A>T (p.Ser744=) c.1863A>T (p.Ser621=) n.2232A>T | dbSNP |
| 13 | g.32336590del | CA16613853 | BRCA2 | c.2235del (p.Val746TrpfsTer26) c.1866del (p.Val623TrpfsTer26) n.2235del | ClinVar dbSNP |
| 13 | g.32336589_32336590del | CA2837994560 | BRCA2 | c.2234_2235del (p.Lys745SerfsTer5) c.1865_1866del (p.Lys622SerfsTer5) n.2234_2235del | |
| 13 | g.32336587_32336588insCTAAATATTTTTCACTAAGTT | CA2540583075 | BRCA2 | c.2232_2233insCTAAATATTTTTCACTAAGTT c.1863_1864insCTAAATATTTTTCACTAAGTT n.2232_2233insCTAAATATTTTTCACTAAGTT | |
| 13 | g.32336588A= | CA2082750460 | BRCA2 | c.2233A= (p.Lys745=) c.1864A= (p.Lys622=) n.2233A= | |
| 13 | g.32336588A>C | CA387770775 | BRCA2 | c.2233A>C (p.Lys745Gln) c.1864A>C (p.Lys622Gln) n.2233A>C | |
| 13 | g.32336588A>G | CA014707 | BRCA2 | c.2233A>G (p.Lys745Glu) c.1864A>G (p.Lys622Glu) n.2233A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336588A>T | CA387770774 | BRCA2 | c.2233A>T (p.Lys745Ter) c.1864A>T (p.Lys622Ter) n.2233A>T | dbSNP |
| 13 | g.32336589A>C | CA387770782 | BRCA2 | c.2234A>C (p.Lys745Thr) c.1865A>C (p.Lys622Thr) n.2234A>C | |
| 13 | g.32336589A>G | CA387770788 | BRCA2 | c.2234A>G (p.Lys745Arg) c.1865A>G (p.Lys622Arg) n.2234A>G | |
| 13 | g.32336589A>T | CA387770790 | BRCA2 | c.2234A>T (p.Lys745Ile) c.1865A>T (p.Lys622Ile) n.2234A>T | dbSNP |
| 13 | g.32336590A>C | CA387770793 | BRCA2 | c.2235A>C (p.Lys745Asn) c.1866A>C (p.Lys622Asn) n.2235A>C | |
| 13 | g.32336590A>G | CA483436948 | BRCA2 | c.2235A>G (p.Lys745=) c.1866A>G (p.Lys622=) n.2235A>G | |
| 13 | g.32336590A>T | CA387770796 | BRCA2 | c.2235A>T (p.Lys745Asn) c.1866A>T (p.Lys622Asn) n.2235A>T | |
| 13 | g.32336591G>A | CA387770804 | BRCA2 | c.2236G>A (p.Val746Met) c.1867G>A (p.Val623Met) n.2236G>A | dbSNP |
| 13 | g.32336591G>C | CA387770803 | BRCA2 | c.2236G>C (p.Val746Leu) c.1867G>C (p.Val623Leu) n.2236G>C | dbSNP |
| 13 | g.32336591G>T | CA387770801 | BRCA2 | c.2236G>T (p.Val746Leu) c.1867G>T (p.Val623Leu) n.2236G>T | dbSNP |
| 13 | g.32336592T>A | CA387770805 | BRCA2 | c.2237T>A (p.Val746Glu) c.1868T>A (p.Val623Glu) n.2237T>A | |
| 13 | g.32336592T>C | CA387770806 | BRCA2 | c.2237T>C (p.Val746Ala) c.1868T>C (p.Val623Ala) n.2237T>C | ClinVar |
| 13 | g.32336592T>G | CA387770807 | BRCA2 | c.2237T>G (p.Val746Gly) c.1868T>G (p.Val623Gly) n.2237T>G | |
| 13 | g.32336593G>A | CA483436954 | BRCA2 | c.2238G>A (p.Val746=) c.1869G>A (p.Val623=) n.2238G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336593G>C | CA483436955 | BRCA2 | c.2238G>C (p.Val746=) c.1869G>C (p.Val623=) n.2238G>C | |
| 13 | g.32336593G= | CA2082750469 | BRCA2 | c.2238G= (p.Val746=) c.1869G= (p.Val623=) n.2238G= | |
| 13 | g.32336593G>T | CA483436957 | BRCA2 | c.2238G>T (p.Val746=) c.1869G>T (p.Val623=) n.2238G>T | |
| 13 | g.32336594G>A | CA16607460 | BRCA2 | c.2239G>A (p.Glu747Lys) c.1870G>A (p.Glu624Lys) n.2239G>A | ClinVar dbSNP |
| 13 | g.32336594G>C | CA387770810 | BRCA2 | c.2239G>C (p.Glu747Gln) c.1870G>C (p.Glu624Gln) n.2239G>C | ClinVar dbSNP |
| 13 | g.32336594G= | CA2082750478 | BRCA2 | c.2239G= (p.Glu747=) c.1870G= (p.Glu624=) n.2239G= | |
| 13 | g.32336594G>T | CA10583079 | BRCA2 | c.2239G>T (p.Glu747Ter) c.1870G>T (p.Glu624Ter) n.2239G>T | ClinVar dbSNP |
| 13 | g.32336595A= | CA2082750497 | BRCA2 | c.2240A= (p.Glu747=) c.1871A= (p.Glu624=) n.2240A= | |
| 13 | g.32336595A>C | CA387770814 | BRCA2 | c.2240A>C (p.Glu747Ala) c.1871A>C (p.Glu624Ala) n.2240A>C | ClinVar dbSNP |
| 13 | g.32336595A>G | CA014722 | BRCA2 | c.2240A>G (p.Glu747Gly) c.1871A>G (p.Glu624Gly) n.2240A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336595A>T | CA387770817 | BRCA2 | c.2240A>T (p.Glu747Val) c.1871A>T (p.Glu624Val) n.2240A>T | dbSNP |
| 13 | g.32336596A= | CA2082750509 | BRCA2 | c.2241A= (p.Glu747=) c.1872A= (p.Glu624=) n.2241A= | |
| 13 | g.32336596A>C | CA387770823 | BRCA2 | c.2241A>C (p.Glu747Asp) c.1872A>C (p.Glu624Asp) n.2241A>C | |
| 13 | g.32336596A>G | CA16613856 | BRCA2 | c.2241A>G (p.Glu747=) c.1872A>G (p.Glu624=) n.2241A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336596A>T | CA387770825 | BRCA2 | c.2241A>T (p.Glu747Asp) c.1872A>T (p.Glu624Asp) n.2241A>T | dbSNP |
| 13 | g.32336597T>A | CA387770831 | BRCA2 | c.2242T>A (p.Tyr748Asn) c.1873T>A (p.Tyr625Asn) n.2242T>A | dbSNP |
| 13 | g.32336597T>C | CA387770833 | BRCA2 | c.2242T>C (p.Tyr748His) c.1873T>C (p.Tyr625His) n.2242T>C | dbSNP |
| 13 | g.32336597T>G | CA387770837 | BRCA2 | c.2242T>G (p.Tyr748Asp) c.1873T>G (p.Tyr625Asp) n.2242T>G | dbSNP |
| 13 | g.32336597_32336599delinsTAC | CA2082750514 | BRCA2 | c.2242_2244delinsTAC (p.Tyr748=) c.1873_1875delinsTAC (p.Tyr625=) n.2242_2244delinsTAC | |
| 13 | g.32336598A>C | CA387770840 | BRCA2 | c.2243A>C (p.Tyr748Ser) c.1874A>C (p.Tyr625Ser) n.2243A>C | dbSNP |
| 13 | g.32336598A>G | CA387770842 | BRCA2 | c.2243A>G (p.Tyr748Cys) c.1874A>G (p.Tyr625Cys) n.2243A>G | ClinVar dbSNP |
| 13 | g.32336598A>T | CA387770845 | BRCA2 | c.2243A>T (p.Tyr748Phe) c.1874A>T (p.Tyr625Phe) n.2243A>T | dbSNP |
| 13 | g.32336599_32336600del | CA10586056 | BRCA2 | c.2244_2245del (p.Tyr748Ter) c.1875_1876del (p.Tyr625Ter) n.2244_2245del | ClinVar dbSNP |
| 13 | g.32336599C>A | CA387770850 | BRCA2 | c.2244C>A (p.Tyr748Ter) c.1875C>A (p.Tyr625Ter) n.2244C>A | dbSNP |
| 13 | g.32336599C= | CA2082750539 | BRCA2 | c.2244C= (p.Tyr748=) c.1875C= (p.Tyr625=) n.2244C= | |
| 13 | g.32336599C>G | CA387770853 | BRCA2 | c.2244C>G (p.Tyr748Ter) c.1875C>G (p.Tyr625Ter) n.2244C>G | ClinVar dbSNP |
| 13 | g.32336599C>T | CA483436967 | BRCA2 | c.2244C>T (p.Tyr748=) c.1875C>T (p.Tyr625=) n.2244C>T | ClinVar dbSNP gnomAD v4 |