| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127068904G>A | CA55320696 | BIN1 | c.519+20C>T (n.519+20C>T) c.447+20C>T (n.447+20C>T) c.438+20C>T (n.438+20C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068904G= | CA1286720606 | BIN1 | c.519+20C= (n.519+20C=) c.447+20C= (n.447+20C=) c.438+20C= (n.438+20C=) | |
| 2 | g.127068905A= | CA1286720608 | BIN1 | c.519+19T= (n.519+19T=) c.447+19T= (n.447+19T=) c.438+19T= (n.438+19T=) | |
| 2 | g.127068905A>C | CA1286720607 | BIN1 | c.519+19T>G (n.519+19T>G) c.447+19T>G (n.447+19T>G) c.438+19T>G (n.438+19T>G) | dbSNP |
| 2 | g.127068906C= | CA1286720609 | BIN1 | c.519+18G= (n.519+18G=) c.447+18G= (n.447+18G=) c.438+18G= (n.438+18G=) | |
| 2 | g.127068906C>T | CA55320703 | BIN1 | c.519+18G>A (n.519+18G>A) c.447+18G>A (n.447+18G>A) c.438+18G>A (n.438+18G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127068907C>A | CA2660975227 | BIN1 | c.519+17G>T (n.519+17G>T) c.447+17G>T (n.447+17G>T) c.438+17G>T (n.438+17G>T) | gnomAD v4 |
| 2 | g.127068907C>T | CA2660975228 | BIN1 | c.519+17G>A (n.519+17G>A) c.447+17G>A (n.447+17G>A) c.438+17G>A (n.438+17G>A) | gnomAD v4 |
| 2 | g.127068908C>A | CA535624448 | BIN1 | c.519+16G>T (n.519+16G>T) c.447+16G>T (n.447+16G>T) c.438+16G>T (n.438+16G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127068908C= | CA1286720610 | BIN1 | c.519+16G= (n.519+16G=) c.447+16G= (n.447+16G=) c.438+16G= (n.438+16G=) | |
| 2 | g.127068908C>G | CA2739271205 | BIN1 | c.519+16G>C (n.519+16G>C) c.447+16G>C (n.447+16G>C) c.438+16G>C (n.438+16G>C) | ClinVar |
| 2 | g.127068908C>T | CA535624449 | BIN1 | c.519+16G>A (n.519+16G>A) c.447+16G>A (n.447+16G>A) c.438+16G>A (n.438+16G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068909G>A | CA1857464 | BIN1 | c.519+15C>T (n.519+15C>T) c.447+15C>T (n.447+15C>T) c.438+15C>T (n.438+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068909G= | CA1286720611 | BIN1 | c.519+15C= (n.519+15C=) c.447+15C= (n.447+15C=) c.438+15C= (n.438+15C=) | |
| 2 | g.127068909G>T | CA2660975230 | BIN1 | c.519+15C>A (n.519+15C>A) c.447+15C>A (n.447+15C>A) c.438+15C>A (n.438+15C>A) | gnomAD v4 |
| 2 | g.127068910C>T | CA2660975231 | BIN1 | c.519+14G>A (n.519+14G>A) c.447+14G>A (n.447+14G>A) c.438+14G>A (n.438+14G>A) | gnomAD v4 |
| 2 | g.127068911C= | CA1286720612 | BIN1 | c.519+13G= (n.519+13G=) c.447+13G= (n.447+13G=) c.438+13G= (n.438+13G=) | |
| 2 | g.127068911C>T | CA535624450 | BIN1 | c.519+13G>A (n.519+13G>A) c.447+13G>A (n.447+13G>A) c.438+13G>A (n.438+13G>A) | dbSNP gnomAD v2 |
| 2 | g.127068912T>G | CA2660975232 | BIN1 | c.519+12A>C (n.519+12A>C) c.447+12A>C (n.447+12A>C) c.438+12A>C (n.438+12A>C) | gnomAD v4 |
| 2 | g.127068913C>A | CA2522578717 | BIN1 | c.519+11G>T (n.519+11G>T) c.447+11G>T (n.447+11G>T) c.438+11G>T (n.438+11G>T) | |
| 2 | g.127068913C>G | CA2660975233 | BIN1 | c.519+11G>C (n.519+11G>C) c.447+11G>C (n.447+11G>C) c.438+11G>C (n.438+11G>C) | gnomAD v4 |
| 2 | g.127068916G>A | CA1857465 | BIN1 | c.519+8C>T (n.519+8C>T) c.447+8C>T (n.447+8C>T) c.438+8C>T (n.438+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068916G= | CA1286720613 | BIN1 | c.519+8C= (n.519+8C=) c.447+8C= (n.447+8C=) c.438+8C= (n.438+8C=) | |
| 2 | g.127068917C>T | CA2577088645 | BIN1 | c.519+7G>A (n.519+7G>A) c.447+7G>A (n.447+7G>A) c.438+7G>A (n.438+7G>A) | |
| 2 | g.127068918C>A | CA2580063775 | BIN1 | c.519+6G>T (n.519+6G>T) c.447+6G>T (n.447+6G>T) c.438+6G>T (n.438+6G>T) | ClinVar |
| 2 | g.127068918C>T | CA2660975234 | BIN1 | c.519+6G>A (n.519+6G>A) c.447+6G>A (n.447+6G>A) c.438+6G>A (n.438+6G>A) | gnomAD v4 |
| 2 | g.127068919C>T | CA2577088646 | BIN1 | c.519+5G>A (n.519+5G>A) c.447+5G>A (n.447+5G>A) c.438+5G>A (n.438+5G>A) | gnomAD v4 |
| 2 | g.127068920T>C | CA535624453 | BIN1 | c.519+4A>G (n.519+4A>G) c.447+4A>G (n.447+4A>G) c.438+4A>G (n.438+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068920T= | CA1286720614 | BIN1 | c.519+4A= (n.519+4A=) c.447+4A= (n.447+4A=) c.438+4A= (n.438+4A=) | |
| 2 | g.127068921_127068922insC | CA645536548 | BIN1 | c.519+2_519+3insG (n.519+2_519+3insG) c.447+2_447+3insG (n.447+2_447+3insG) c.438+2_438+3insG (n.438+2_438+3insG) | COSMIC COSMIC |
| 2 | g.127068922A= | CA1286720615 | BIN1 | c.519+2T= (n.519+2T=) c.447+2T= (n.447+2T=) c.438+2T= (n.438+2T=) | |
| 2 | g.127068922A>C | CA348367542 | BIN1 | c.519+2T>G (n.519+2T>G) c.447+2T>G (n.447+2T>G) c.438+2T>G (n.438+2T>G) | |
| 2 | g.127068922A>G | CA55320727 | BIN1 | c.519+2T>C (n.519+2T>C) c.447+2T>C (n.447+2T>C) c.438+2T>C (n.438+2T>C) | dbSNP |
| 2 | g.127068922A>T | CA55320720 | BIN1 | c.519+2T>A (n.519+2T>A) c.447+2T>A (n.447+2T>A) c.438+2T>A (n.438+2T>A) | dbSNP gnomAD v4 |
| 2 | g.127068922_127068923insTATTAATCATCATCCTAGCCCTAAGTCTGGCCTATGAGTG | CA645536549 | BIN1 | c.519+1_519+2insCACTCATAGGCCAGACTTAGGGCTAGGATGATGATTAATA (n.519+1_519+2insCACTCATAGGCCAGACTTAGGGCTAGGATGATGATTAATA) c.447+1_447+2insCACTCATAGGCCAGACTTAGGGCTAGGATGATGATTAATA (n.447+1_447+2insCACTCATAGGCCAGACTTAGGGCTAGGATGATGATTAATA) c.438+1_438+2insCACTCATAGGCCAGACTTAGGGCTAGGATGATGATTAATA (n.438+1_438+2insCACTCATAGGCCAGACTTAGGGCTAGGATGATGATTAATA) | COSMIC COSMIC |
| 2 | g.127068923C>A | CA348367549 | BIN1 | c.519+1G>T (n.519+1G>T) c.447+1G>T (n.447+1G>T) c.438+1G>T (n.438+1G>T) | |
| 2 | g.127068923C= | CA1286720616 | BIN1 | c.519+1G= (n.519+1G=) c.447+1G= (n.447+1G=) c.438+1G= (n.438+1G=) | |
| 2 | g.127068923C>G | CA1857466 | BIN1 | c.519+1G>C (n.519+1G>C) c.447+1G>C (n.447+1G>C) c.438+1G>C (n.438+1G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068923C>T | CA348367551 | BIN1 | c.519+1G>A (n.519+1G>A) c.447+1G>A (n.447+1G>A) c.438+1G>A (n.438+1G>A) | |
| 2 | g.127068924C>A | CA348367553 | BIN1 | c.519G>T (p.Lys173Asn) c.447G>T (p.Lys149Asn) c.438G>T (p.Lys146Asn) | |
| 2 | g.127068924C= | CA1286720617 | BIN1 | c.519G= (p.Lys173=) c.447G= (p.Lys149=) c.438G= (p.Lys146=) | |
| 2 | g.127068924C>G | CA348367554 | BIN1 | c.519G>C (p.Lys173Asn) c.447G>C (p.Lys149Asn) c.438G>C (p.Lys146Asn) | |
| 2 | g.127068924C>T | CA428588516 | BIN1 | c.519G>A (p.Lys173=) c.447G>A (p.Lys149=) c.438G>A (p.Lys146=) | dbSNP |
| 2 | g.127068925T>A | CA348367556 | BIN1 | c.518A>T (p.Lys173Met) c.446A>T (p.Lys149Met) c.437A>T (p.Lys146Met) | |
| 2 | g.127068925T>C | CA348367560 | BIN1 | c.518A>G (p.Lys173Arg) c.446A>G (p.Lys149Arg) c.437A>G (p.Lys146Arg) | |
| 2 | g.127068925T>G | CA348367558 | BIN1 | c.518A>C (p.Lys173Thr) c.446A>C (p.Lys149Thr) c.437A>C (p.Lys146Thr) | dbSNP |
| 2 | g.127068925T= | CA1286720618 | BIN1 | c.518A= (p.Lys173=) c.446A= (p.Lys149=) c.437A= (p.Lys146=) | |
| 2 | g.127068926T>A | CA348367562 | BIN1 | c.517A>T (p.Lys173Ter) c.445A>T (p.Lys149Ter) c.436A>T (p.Lys146Ter) | |
| 2 | g.127068926T>C | CA348367564 | BIN1 | c.517A>G (p.Lys173Glu) c.445A>G (p.Lys149Glu) c.436A>G (p.Lys146Glu) | gnomAD v4 |
| 2 | g.127068926T>G | CA348367563 | BIN1 | c.517A>C (p.Lys173Gln) c.445A>C (p.Lys149Gln) c.436A>C (p.Lys146Gln) | |
| 2 | g.127068927G>A | CA428588529 | BIN1 | c.516C>T (p.Ala172=) c.444C>T (p.Ala148=) c.435C>T (p.Ala145=) | gnomAD v4 |
| 2 | g.127068927G>C | CA1857467 | BIN1 | c.516C>G (p.Ala172=) c.444C>G (p.Ala148=) c.435C>G (p.Ala145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068927G= | CA1286720619 | BIN1 | c.516C= (p.Ala172=) c.444C= (p.Ala148=) c.435C= (p.Ala145=) | |
| 2 | g.127068927G>T | CA428588527 | BIN1 | c.516C>A (p.Ala172=) c.444C>A (p.Ala148=) c.435C>A (p.Ala145=) | |
| 2 | g.127068928G>A | CA348367570 | BIN1 | c.515C>T (p.Ala172Val) c.443C>T (p.Ala148Val) c.434C>T (p.Ala145Val) | |
| 2 | g.127068928G>C | CA348367566 | BIN1 | c.515C>G (p.Ala172Gly) c.443C>G (p.Ala148Gly) c.434C>G (p.Ala145Gly) | |
| 2 | g.127068928G>T | CA348367568 | BIN1 | c.515C>A (p.Ala172Asp) c.443C>A (p.Ala148Asp) c.434C>A (p.Ala145Asp) | |
| 2 | g.127068929C>A | CA348367571 | BIN1 | c.514G>T (p.Ala172Ser) c.442G>T (p.Ala148Ser) c.433G>T (p.Ala145Ser) | |
| 2 | g.127068929C>G | CA348367574 | BIN1 | c.514G>C (p.Ala172Pro) c.442G>C (p.Ala148Pro) c.433G>C (p.Ala145Pro) | |
| 2 | g.127068929C>T | CA348367576 | BIN1 | c.514G>A (p.Ala172Thr) c.442G>A (p.Ala148Thr) c.433G>A (p.Ala145Thr) | |
| 2 | g.127068930A>C | CA348367577 | BIN1 | c.513T>G (p.Ile171Met) c.441T>G (p.Ile147Met) c.432T>G (p.Ile144Met) | |
| 2 | g.127068930A>G | CA428588538 | BIN1 | c.513T>C (p.Ile171=) c.441T>C (p.Ile147=) c.432T>C (p.Ile144=) | gnomAD v4 |
| 2 | g.127068930A>T | CA428588536 | BIN1 | c.513T>A (p.Ile171=) c.441T>A (p.Ile147=) c.432T>A (p.Ile144=) | |
| 2 | g.127068931A>C | CA348367580 | BIN1 | c.512T>G (p.Ile171Ser) c.440T>G (p.Ile147Ser) c.431T>G (p.Ile144Ser) | |
| 2 | g.127068931A>G | CA348367582 | BIN1 | c.512T>C (p.Ile171Thr) c.440T>C (p.Ile147Thr) c.431T>C (p.Ile144Thr) | dbSNP |
| 2 | g.127068931A>T | CA348367583 | BIN1 | c.512T>A (p.Ile171Asn) c.440T>A (p.Ile147Asn) c.431T>A (p.Ile144Asn) | |
| 2 | g.127068932T>A | CA348367585 | BIN1 | c.511A>T (p.Ile171Phe) c.439A>T (p.Ile147Phe) c.430A>T (p.Ile144Phe) | |
| 2 | g.127068932T>C | CA348367586 | BIN1 | c.511A>G (p.Ile171Val) c.439A>G (p.Ile147Val) c.430A>G (p.Ile144Val) | |
| 2 | g.127068932T>G | CA348367588 | BIN1 | c.511A>C (p.Ile171Leu) c.439A>C (p.Ile147Leu) c.430A>C (p.Ile144Leu) | |
| 2 | g.127068935del | CA2660975235 | BIN1 | c.511del (p.Ile171LeufsTer18) c.511del (p.Ile171LeufsTer25) c.439del (p.Ile147LeufsTer18) c.430del (p.Ile144LeufsTer25) c.439del (p.Ile147LeufsTer25) | gnomAD v4 |
| 2 | g.127068933T>A | CA348367591 | BIN1 | c.510A>T (p.Lys170Asn) c.438A>T (p.Lys146Asn) c.429A>T (p.Lys143Asn) | |
| 2 | g.127068933T>C | CA428588552 | BIN1 | c.510A>G (p.Lys170=) c.438A>G (p.Lys146=) c.429A>G (p.Lys143=) | |
| 2 | g.127068933T>G | CA348367590 | BIN1 | c.510A>C (p.Lys170Asn) c.438A>C (p.Lys146Asn) c.429A>C (p.Lys143Asn) | |
| 2 | g.127068934T>A | CA348367593 | BIN1 | c.509A>T (p.Lys170Ile) c.437A>T (p.Lys146Ile) c.428A>T (p.Lys143Ile) | |
| 2 | g.127068934T>C | CA348367595 | BIN1 | c.509A>G (p.Lys170Arg) c.437A>G (p.Lys146Arg) c.428A>G (p.Lys143Arg) | |
| 2 | g.127068934T>G | CA348367597 | BIN1 | c.509A>C (p.Lys170Thr) c.437A>C (p.Lys146Thr) c.428A>C (p.Lys143Thr) | gnomAD v4 |
| 2 | g.127068935T>A | CA348367600 | BIN1 | c.508A>T (p.Lys170Ter) c.436A>T (p.Lys146Ter) c.427A>T (p.Lys143Ter) | |
| 2 | g.127068935T>C | CA348367602 | BIN1 | c.508A>G (p.Lys170Glu) c.436A>G (p.Lys146Glu) c.427A>G (p.Lys143Glu) | |
| 2 | g.127068935T>G | CA348367604 | BIN1 | c.508A>C (p.Lys170Gln) c.436A>C (p.Lys146Gln) c.427A>C (p.Lys143Gln) | |
| 2 | g.127068936G>A | CA428588563 | BIN1 | c.507C>T (p.Ala169=) c.435C>T (p.Ala145=) c.426C>T (p.Ala142=) | gnomAD v4 |
| 2 | g.127068936G>C | CA428588564 | BIN1 | c.507C>G (p.Ala169=) c.435C>G (p.Ala145=) c.426C>G (p.Ala142=) | |
| 2 | g.127068936G>T | CA428588566 | BIN1 | c.507C>A (p.Ala169=) c.435C>A (p.Ala145=) c.426C>A (p.Ala142=) | |
| 2 | g.127068937G>A | CA348367606 | BIN1 | c.506C>T (p.Ala169Val) c.434C>T (p.Ala145Val) c.425C>T (p.Ala142Val) | |
| 2 | g.127068937G>C | CA348367608 | BIN1 | c.506C>G (p.Ala169Gly) c.434C>G (p.Ala145Gly) c.425C>G (p.Ala142Gly) | |
| 2 | g.127068937G= | CA1286720620 | BIN1 | c.506C= (p.Ala169=) c.434C= (p.Ala145=) c.425C= (p.Ala142=) | |
| 2 | g.127068937G>T | CA1857468 | BIN1 | c.506C>A (p.Ala169Asp) c.434C>A (p.Ala145Asp) c.425C>A (p.Ala142Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068938C>A | CA348367611 | BIN1 | c.505G>T (p.Ala169Ser) c.433G>T (p.Ala145Ser) c.424G>T (p.Ala142Ser) | |
| 2 | g.127068938C>G | CA348367612 | BIN1 | c.505G>C (p.Ala169Pro) c.433G>C (p.Ala145Pro) c.424G>C (p.Ala142Pro) | |
| 2 | g.127068938C>T | CA348367613 | BIN1 | c.505G>A (p.Ala169Thr) c.433G>A (p.Ala145Thr) c.424G>A (p.Ala142Thr) | |
| 2 | g.127068939T>A | CA348367615 | BIN1 | c.504A>T (p.Glu168Asp) c.432A>T (p.Glu144Asp) c.423A>T (p.Glu141Asp) | |
| 2 | g.127068939T>C | CA428588577 | BIN1 | c.504A>G (p.Glu168=) c.432A>G (p.Glu144=) c.423A>G (p.Glu141=) | ClinVar gnomAD v4 |
| 2 | g.127068939T>G | CA348367618 | BIN1 | c.504A>C (p.Glu168Asp) c.432A>C (p.Glu144Asp) c.423A>C (p.Glu141Asp) | dbSNP |
| 2 | g.127068939T= | CA1286720621 | BIN1 | c.504A= (p.Glu168=) c.432A= (p.Glu144=) c.423A= (p.Glu141=) | |
| 2 | g.127068940T>A | CA348367620 | BIN1 | c.503A>T (p.Glu168Val) c.431A>T (p.Glu144Val) c.422A>T (p.Glu141Val) | |
| 2 | g.127068940T>C | CA348367622 | BIN1 | c.503A>G (p.Glu168Gly) c.431A>G (p.Glu144Gly) c.422A>G (p.Glu141Gly) | |
| 2 | g.127068940T>G | CA348367624 | BIN1 | c.503A>C (p.Glu168Ala) c.431A>C (p.Glu144Ala) c.422A>C (p.Glu141Ala) | |
| 2 | g.127068941C>A | CA348367626 | BIN1 | c.502G>T (p.Glu168Ter) c.430G>T (p.Glu144Ter) c.421G>T (p.Glu141Ter) | |
| 2 | g.127068941C>G | CA348367628 | BIN1 | c.502G>C (p.Glu168Gln) c.430G>C (p.Glu144Gln) c.421G>C (p.Glu141Gln) | |
| 2 | g.127068941C>T | CA348367629 | BIN1 | c.502G>A (p.Glu168Lys) c.430G>A (p.Glu144Lys) c.421G>A (p.Glu141Lys) | COSMIC COSMIC |
| 2 | g.127068942A>C | CA348367631 | BIN1 | c.501T>G (p.Asp167Glu) c.429T>G (p.Asp143Glu) c.420T>G (p.Asp140Glu) | |
| 2 | g.127068942A>G | CA428588589 | BIN1 | c.501T>C (p.Asp167=) c.429T>C (p.Asp143=) c.420T>C (p.Asp140=) | |
| 2 | g.127068942A>T | CA348367633 | BIN1 | c.501T>A (p.Asp167Glu) c.429T>A (p.Asp143Glu) c.420T>A (p.Asp140Glu) | |
| 2 | g.127068943T>A | CA348367635 | BIN1 | c.500A>T (p.Asp167Val) c.428A>T (p.Asp143Val) c.419A>T (p.Asp140Val) | |
| 2 | g.127068943T>C | CA348367636 | BIN1 | c.500A>G (p.Asp167Gly) c.428A>G (p.Asp143Gly) c.419A>G (p.Asp140Gly) | |
| 2 | g.127068943T>G | CA348367638 | BIN1 | c.500A>C (p.Asp167Ala) c.428A>C (p.Asp143Ala) c.419A>C (p.Asp140Ala) | |
| 2 | g.127068944C>A | CA348367647 | BIN1 | c.499G>T (p.Asp167Tyr) c.427G>T (p.Asp143Tyr) c.418G>T (p.Asp140Tyr) | |
| 2 | g.127068944C>G | CA348367645 | BIN1 | c.499G>C (p.Asp167His) c.427G>C (p.Asp143His) c.418G>C (p.Asp140His) | |
| 2 | g.127068944C>T | CA348367641 | BIN1 | c.499G>A (p.Asp167Asn) c.427G>A (p.Asp143Asn) c.418G>A (p.Asp140Asn) | |
| 2 | g.127068944_127068947delinsCCTT | CA1286720622 | BIN1 | c.496_499delinsAAGG (p.Lys166=) c.424_427delinsAAGG (p.Lys142=) c.415_418delinsAAGG (p.Lys139=) | |
| 2 | g.127068945C>A | CA348367649 | BIN1 | c.498G>T (p.Lys166Asn) c.426G>T (p.Lys142Asn) c.417G>T (p.Lys139Asn) | |
| 2 | g.127068945C>G | CA348367651 | BIN1 | c.498G>C (p.Lys166Asn) c.426G>C (p.Lys142Asn) c.417G>C (p.Lys139Asn) | |
| 2 | g.127068945C>T | CA428588609 | BIN1 | c.498G>A (p.Lys166=) c.426G>A (p.Lys142=) c.417G>A (p.Lys139=) | |
| 2 | g.127068948_127068950del | CA1857469 | BIN1 | c.496_498del (p.Lys166del) c.424_426del (p.Lys142del) c.415_417del (p.Lys139del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127068946T>A | CA348367654 | BIN1 | c.497A>T (p.Lys166Met) c.425A>T (p.Lys142Met) c.416A>T (p.Lys139Met) | |
| 2 | g.127068946T>C | CA348367656 | BIN1 | c.497A>G (p.Lys166Arg) c.425A>G (p.Lys142Arg) c.416A>G (p.Lys139Arg) | |
| 2 | g.127068946T>G | CA348367658 | BIN1 | c.497A>C (p.Lys166Thr) c.425A>C (p.Lys142Thr) c.416A>C (p.Lys139Thr) | |
| 2 | g.127068947T>A | CA348367660 | BIN1 | c.496A>T (p.Lys166Ter) c.424A>T (p.Lys142Ter) c.415A>T (p.Lys139Ter) | |
| 2 | g.127068947T>C | CA348367662 | BIN1 | c.496A>G (p.Lys166Glu) c.424A>G (p.Lys142Glu) c.415A>G (p.Lys139Glu) | |
| 2 | g.127068947T>G | CA348367664 | BIN1 | c.496A>C (p.Lys166Gln) c.424A>C (p.Lys142Gln) c.415A>C (p.Lys139Gln) | |
| 2 | g.127068948C>A | CA348367666 | BIN1 | c.495G>T (p.Lys165Asn) c.423G>T (p.Lys141Asn) c.414G>T (p.Lys138Asn) | gnomAD v4 |
| 2 | g.127068948C>G | CA348367668 | BIN1 | c.495G>C (p.Lys165Asn) c.423G>C (p.Lys141Asn) c.414G>C (p.Lys138Asn) | |
| 2 | g.127068948C>T | CA428588620 | BIN1 | c.495G>A (p.Lys165=) c.423G>A (p.Lys141=) c.414G>A (p.Lys138=) | |
| 2 | g.127068949T>A | CA348367674 | BIN1 | c.494A>T (p.Lys165Met) c.422A>T (p.Lys141Met) c.413A>T (p.Lys138Met) | |
| 2 | g.127068949T>C | CA348367672 | BIN1 | c.494A>G (p.Lys165Arg) c.422A>G (p.Lys141Arg) c.413A>G (p.Lys138Arg) | |
| 2 | g.127068949T>G | CA348367670 | BIN1 | c.494A>C (p.Lys165Thr) c.422A>C (p.Lys141Thr) c.413A>C (p.Lys138Thr) | |
| 2 | g.127068953del | CA645536550 | BIN1 | c.494del (p.Lys165ArgfsTer24) c.494del (p.Lys165ArgfsTer?) c.422del (p.Lys141ArgfsTer24) c.413del (p.Lys138ArgfsTer?) c.422del (p.Lys141ArgfsTer?) | COSMIC COSMIC |
| 2 | g.127068950T>A | CA348367676 | BIN1 | c.493A>T (p.Lys165Ter) c.421A>T (p.Lys141Ter) c.412A>T (p.Lys138Ter) | |
| 2 | g.127068950T>C | CA348367677 | BIN1 | c.493A>G (p.Lys165Glu) c.421A>G (p.Lys141Glu) c.412A>G (p.Lys138Glu) | |
| 2 | g.127068950T>G | CA348367678 | BIN1 | c.493A>C (p.Lys165Gln) c.421A>C (p.Lys141Gln) c.412A>C (p.Lys138Gln) | |
| 2 | g.127068951T>A | CA348367679 | BIN1 | c.492A>T (p.Lys164Asn) c.420A>T (p.Lys140Asn) c.411A>T (p.Lys137Asn) | |
| 2 | g.127068951T>C | CA428588631 | BIN1 | c.492A>G (p.Lys164=) c.420A>G (p.Lys140=) c.411A>G (p.Lys137=) | |
| 2 | g.127068951T>G | CA348367680 | BIN1 | c.492A>C (p.Lys164Asn) c.420A>C (p.Lys140Asn) c.411A>C (p.Lys137Asn) | |
| 2 | g.127068952T>A | CA348367683 | BIN1 | c.491A>T (p.Lys164Ile) c.419A>T (p.Lys140Ile) c.410A>T (p.Lys137Ile) | |
| 2 | g.127068952T>C | CA348367682 | BIN1 | c.491A>G (p.Lys164Arg) c.419A>G (p.Lys140Arg) c.410A>G (p.Lys137Arg) | |
| 2 | g.127068952T>G | CA348367681 | BIN1 | c.491A>C (p.Lys164Thr) c.419A>C (p.Lys140Thr) c.410A>C (p.Lys137Thr) | |
| 2 | g.127068953T>A | CA348367684 | BIN1 | c.490A>T (p.Lys164Ter) c.418A>T (p.Lys140Ter) c.409A>T (p.Lys137Ter) | |
| 2 | g.127068953T>C | CA348367685 | BIN1 | c.490A>G (p.Lys164Glu) c.418A>G (p.Lys140Glu) c.409A>G (p.Lys137Glu) | |
| 2 | g.127068953T>G | CA348367686 | BIN1 | c.490A>C (p.Lys164Gln) c.418A>C (p.Lys140Gln) c.409A>C (p.Lys137Gln) | |
| 2 | g.127068954G>A | CA428588647 | BIN1 | c.489C>T (p.Ala163=) c.417C>T (p.Ala139=) c.408C>T (p.Ala136=) | gnomAD v4 |
| 2 | g.127068954G>C | CA428588645 | BIN1 | c.489C>G (p.Ala163=) c.417C>G (p.Ala139=) c.408C>G (p.Ala136=) | |
| 2 | g.127068954G>T | CA428588643 | BIN1 | c.489C>A (p.Ala163=) c.417C>A (p.Ala139=) c.408C>A (p.Ala136=) | |
| 2 | g.127068955G>A | CA348367687 | BIN1 | c.488C>T (p.Ala163Val) c.416C>T (p.Ala139Val) c.407C>T (p.Ala136Val) | gnomAD v4 |
| 2 | g.127068955G>C | CA348367688 | BIN1 | c.488C>G (p.Ala163Gly) c.416C>G (p.Ala139Gly) c.407C>G (p.Ala136Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127068955G= | CA1286720623 | BIN1 | c.488C= (p.Ala163=) c.416C= (p.Ala139=) c.407C= (p.Ala136=) | |
| 2 | g.127068955G>T | CA348367689 | BIN1 | c.488C>A (p.Ala163Asp) c.416C>A (p.Ala139Asp) c.407C>A (p.Ala136Asp) | |
| 2 | g.127068956C>A | CA348367692 | BIN1 | c.487G>T (p.Ala163Ser) c.415G>T (p.Ala139Ser) c.406G>T (p.Ala136Ser) | dbSNP gnomAD v4 |
| 2 | g.127068956C= | CA1286720624 | BIN1 | c.487G= (p.Ala163=) c.415G= (p.Ala139=) c.406G= (p.Ala136=) | |
| 2 | g.127068956C>G | CA348367690 | BIN1 | c.487G>C (p.Ala163Pro) c.415G>C (p.Ala139Pro) c.406G>C (p.Ala136Pro) | |
| 2 | g.127068956C>T | CA348367691 | BIN1 | c.487G>A (p.Ala163Thr) c.415G>A (p.Ala139Thr) c.406G>A (p.Ala136Thr) | gnomAD v4 |
| 2 | g.127068957A= | CA1286720625 | BIN1 | c.486T= (p.Thr162=) c.414T= (p.Thr138=) c.405T= (p.Thr135=) | |
| 2 | g.127068957A>C | CA428588657 | BIN1 | c.486T>G (p.Thr162=) c.414T>G (p.Thr138=) c.405T>G (p.Thr135=) | |
| 2 | g.127068957A>G | CA171401 | BIN1 | c.486T>C (p.Thr162=) c.414T>C (p.Thr138=) c.405T>C (p.Thr135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068957A>T | CA428588660 | BIN1 | c.486T>A (p.Thr162=) c.414T>A (p.Thr138=) c.405T>A (p.Thr135=) | gnomAD v4 |
| 2 | g.127068958G>A | CA348367693 | BIN1 | c.485C>T (p.Thr162Ile) c.413C>T (p.Thr138Ile) c.404C>T (p.Thr135Ile) | |
| 2 | g.127068958G>C | CA348367695 | BIN1 | c.485C>G (p.Thr162Ser) c.413C>G (p.Thr138Ser) c.404C>G (p.Thr135Ser) | |
| 2 | g.127068958G>T | CA348367696 | BIN1 | c.485C>A (p.Thr162Asn) c.413C>A (p.Thr138Asn) c.404C>A (p.Thr135Asn) | |
| 2 | g.127068959T>A | CA348367697 | BIN1 | c.484A>T (p.Thr162Ser) c.412A>T (p.Thr138Ser) c.403A>T (p.Thr135Ser) | |
| 2 | g.127068959T>C | CA348367698 | BIN1 | c.484A>G (p.Thr162Ala) c.412A>G (p.Thr138Ala) c.403A>G (p.Thr135Ala) | |
| 2 | g.127068959T>G | CA348367699 | BIN1 | c.484A>C (p.Thr162Pro) c.412A>C (p.Thr138Pro) c.403A>C (p.Thr135Pro) | |
| 2 | g.127068960T>A | CA348367700 | BIN1 | c.483A>T (p.Gln161His) c.411A>T (p.Gln137His) c.402A>T (p.Gln134His) | |
| 2 | g.127068960T>C | CA428588672 | BIN1 | c.483A>G (p.Gln161=) c.411A>G (p.Gln137=) c.402A>G (p.Gln134=) | gnomAD v4 |
| 2 | g.127068960T>G | CA348367703 | BIN1 | c.483A>C (p.Gln161His) c.411A>C (p.Gln137His) c.402A>C (p.Gln134His) | |
| 2 | g.127068961T>A | CA348367706 | BIN1 | c.482A>T (p.Gln161Leu) c.410A>T (p.Gln137Leu) c.401A>T (p.Gln134Leu) | |
| 2 | g.127068961T>C | CA348367708 | BIN1 | c.482A>G (p.Gln161Arg) c.410A>G (p.Gln137Arg) c.401A>G (p.Gln134Arg) | |
| 2 | g.127068961T>G | CA348367710 | BIN1 | c.482A>C (p.Gln161Pro) c.410A>C (p.Gln137Pro) c.401A>C (p.Gln134Pro) | |
| 2 | g.127068962G>A | CA348367712 | BIN1 | c.481C>T (p.Gln161Ter) c.409C>T (p.Gln137Ter) c.400C>T (p.Gln134Ter) | |
| 2 | g.127068962G>C | CA348367715 | BIN1 | c.481C>G (p.Gln161Glu) c.409C>G (p.Gln137Glu) c.400C>G (p.Gln134Glu) | COSMIC COSMIC |
| 2 | g.127068962G>T | CA348367714 | BIN1 | c.481C>A (p.Gln161Lys) c.409C>A (p.Gln137Lys) c.400C>A (p.Gln134Lys) | gnomAD v4 |
| 2 | g.127068963A= | CA1286720626 | BIN1 | c.480T= (p.Leu160=) c.408T= (p.Leu136=) c.399T= (p.Leu133=) | |
| 2 | g.127068963A>C | CA428588682 | BIN1 | c.480T>G (p.Leu160=) c.408T>G (p.Leu136=) c.399T>G (p.Leu133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068963A>G | CA428588683 | BIN1 | c.480T>C (p.Leu160=) c.408T>C (p.Leu136=) c.399T>C (p.Leu133=) | |
| 2 | g.127068963A>T | CA428588685 | BIN1 | c.480T>A (p.Leu160=) c.408T>A (p.Leu136=) c.399T>A (p.Leu133=) | |
| 2 | g.127068964A= | CA1286720627 | BIN1 | c.479T= (p.Leu160=) c.407T= (p.Leu136=) c.398T= (p.Leu133=) | |
| 2 | g.127068964A>C | CA55320765 | BIN1 | c.479T>G (p.Leu160Arg) c.407T>G (p.Leu136Arg) c.398T>G (p.Leu133Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127068964A>G | CA348367722 | BIN1 | c.479T>C (p.Leu160Pro) c.407T>C (p.Leu136Pro) c.398T>C (p.Leu133Pro) | |
| 2 | g.127068964A>T | CA348367723 | BIN1 | c.479T>A (p.Leu160His) c.407T>A (p.Leu136His) c.398T>A (p.Leu133His) | |
| 2 | g.127068965G>A | CA348367727 | BIN1 | c.478C>T (p.Leu160Phe) c.406C>T (p.Leu136Phe) c.397C>T (p.Leu133Phe) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127068965G>C | CA348367729 | BIN1 | c.478C>G (p.Leu160Val) c.406C>G (p.Leu136Val) c.397C>G (p.Leu133Val) | |
| 2 | g.127068965G= | CA1286720628 | BIN1 | c.478C= (p.Leu160=) c.406C= (p.Leu136=) c.397C= (p.Leu133=) | |
| 2 | g.127068965G>T | CA348367731 | BIN1 | c.478C>A (p.Leu160Ile) c.406C>A (p.Leu136Ile) c.397C>A (p.Leu133Ile) | |
| 2 | g.127068966G>A | CA428588695 | BIN1 | c.477C>T (p.Ser159=) c.405C>T (p.Ser135=) c.396C>T (p.Ser132=) | COSMIC COSMIC |
| 2 | g.127068966G>C | CA428588699 | BIN1 | c.477C>G (p.Ser159=) c.405C>G (p.Ser135=) c.396C>G (p.Ser132=) | |
| 2 | g.127068966G>T | CA428588697 | BIN1 | c.477C>A (p.Ser159=) c.405C>A (p.Ser135=) c.396C>A (p.Ser132=) | |
| 2 | g.127068967G>A | CA348367733 | BIN1 | c.476C>T (p.Ser159Phe) c.404C>T (p.Ser135Phe) c.395C>T (p.Ser132Phe) | gnomAD v4 |
| 2 | g.127068967G>C | CA348367735 | BIN1 | c.476C>G (p.Ser159Cys) c.404C>G (p.Ser135Cys) c.395C>G (p.Ser132Cys) | |
| 2 | g.127068967G= | CA1286720629 | BIN1 | c.476C= (p.Ser159=) c.404C= (p.Ser135=) c.395C= (p.Ser132=) | |
| 2 | g.127068967G>T | CA55320767 | BIN1 | c.476C>A (p.Ser159Tyr) c.404C>A (p.Ser135Tyr) c.395C>A (p.Ser132Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127068968A>C | CA348367738 | BIN1 | c.475T>G (p.Ser159Ala) c.403T>G (p.Ser135Ala) c.394T>G (p.Ser132Ala) | |
| 2 | g.127068968A>G | CA348367740 | BIN1 | c.475T>C (p.Ser159Pro) c.403T>C (p.Ser135Pro) c.394T>C (p.Ser132Pro) | |
| 2 | g.127068968A>T | CA348367742 | BIN1 | c.475T>A (p.Ser159Thr) c.403T>A (p.Ser135Thr) c.394T>A (p.Ser132Thr) | |
| 2 | g.127068969C>A | CA348367746 | BIN1 | c.474G>T (p.Glu158Asp) c.402G>T (p.Glu134Asp) c.393G>T (p.Glu131Asp) | |
| 2 | g.127068969C= | CA1286720630 | BIN1 | c.474G= (p.Glu158=) c.402G= (p.Glu134=) c.393G= (p.Glu131=) | |
| 2 | g.127068969C>G | CA348367744 | BIN1 | c.474G>C (p.Glu158Asp) c.402G>C (p.Glu134Asp) c.393G>C (p.Glu131Asp) | |
| 2 | g.127068969C>T | CA428588712 | BIN1 | c.474G>A (p.Glu158=) c.402G>A (p.Glu134=) c.393G>A (p.Glu131=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127068970T>A | CA348367748 | BIN1 | c.473A>T (p.Glu158Val) c.401A>T (p.Glu134Val) c.392A>T (p.Glu131Val) | |
| 2 | g.127068970T>C | CA348367750 | BIN1 | c.473A>G (p.Glu158Gly) c.401A>G (p.Glu134Gly) c.392A>G (p.Glu131Gly) | gnomAD v4 |
| 2 | g.127068970T>G | CA348367752 | BIN1 | c.473A>C (p.Glu158Ala) c.401A>C (p.Glu134Ala) c.392A>C (p.Glu131Ala) | |
| 2 | g.127068971C>A | CA348367754 | BIN1 | c.472G>T (p.Glu158Ter) c.400G>T (p.Glu134Ter) c.391G>T (p.Glu131Ter) | gnomAD v4 |
| 2 | g.127068971C= | CA1286720631 | BIN1 | c.472G= (p.Glu158=) c.400G= (p.Glu134=) c.391G= (p.Glu131=) | |
| 2 | g.127068971C>G | CA348367756 | BIN1 | c.472G>C (p.Glu158Gln) c.400G>C (p.Glu134Gln) c.391G>C (p.Glu131Gln) | |
| 2 | g.127068971C>T | CA1857470 | BIN1 | c.472G>A (p.Glu158Lys) c.400G>A (p.Glu134Lys) c.391G>A (p.Glu131Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127068972G>A | CA1857471 | BIN1 | c.471C>T (p.Tyr157=) c.399C>T (p.Tyr133=) c.390C>T (p.Tyr130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068972G>C | CA348367760 | BIN1 | c.471C>G (p.Tyr157Ter) c.399C>G (p.Tyr133Ter) c.390C>G (p.Tyr130Ter) | gnomAD v4 |
| 2 | g.127068972G= | CA1286720632 | BIN1 | c.471C= (p.Tyr157=) c.399C= (p.Tyr133=) c.390C= (p.Tyr130=) | |
| 2 | g.127068972G>T | CA348367762 | BIN1 | c.471C>A (p.Tyr157Ter) c.399C>A (p.Tyr133Ter) c.390C>A (p.Tyr130Ter) | |
| 2 | g.127068973T>A | CA348367765 | BIN1 | c.470A>T (p.Tyr157Phe) c.398A>T (p.Tyr133Phe) c.389A>T (p.Tyr130Phe) | COSMIC COSMIC |
| 2 | g.127068973T>C | CA348367766 | BIN1 | c.470A>G (p.Tyr157Cys) c.398A>G (p.Tyr133Cys) c.389A>G (p.Tyr130Cys) | |
| 2 | g.127068973T>G | CA348367768 | BIN1 | c.470A>C (p.Tyr157Ser) c.398A>C (p.Tyr133Ser) c.389A>C (p.Tyr130Ser) | |
| 2 | g.127068974A= | CA1286720633 | BIN1 | c.469T= (p.Tyr157=) c.397T= (p.Tyr133=) c.388T= (p.Tyr130=) | |
| 2 | g.127068974A>C | CA348367771 | BIN1 | c.469T>G (p.Tyr157Asp) c.397T>G (p.Tyr133Asp) c.388T>G (p.Tyr130Asp) | gnomAD v4 |
| 2 | g.127068974A>G | CA348367773 | BIN1 | c.469T>C (p.Tyr157His) c.397T>C (p.Tyr133His) c.388T>C (p.Tyr130His) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127068974A>T | CA348367770 | BIN1 | c.469T>A (p.Tyr157Asn) c.397T>A (p.Tyr133Asn) c.388T>A (p.Tyr130Asn) | |
| 2 | g.127068975G>A | CA428588730 | BIN1 | c.468C>T (p.His156=) c.396C>T (p.His132=) c.387C>T (p.His129=) | |
| 2 | g.127068975G>C | CA348367776 | BIN1 | c.468C>G (p.His156Gln) c.396C>G (p.His132Gln) c.387C>G (p.His129Gln) | |
| 2 | g.127068975G>T | CA348367777 | BIN1 | c.468C>A (p.His156Gln) c.396C>A (p.His132Gln) c.387C>A (p.His129Gln) | |
| 2 | g.127068976T>A | CA348367779 | BIN1 | c.467A>T (p.His156Leu) c.395A>T (p.His132Leu) c.386A>T (p.His129Leu) | |
| 2 | g.127068976T>C | CA348367781 | BIN1 | c.467A>G (p.His156Arg) c.395A>G (p.His132Arg) c.386A>G (p.His129Arg) | |
| 2 | g.127068976T>G | CA348367783 | BIN1 | c.467A>C (p.His156Pro) c.395A>C (p.His132Pro) c.386A>C (p.His129Pro) | |
| 2 | g.127068977G>A | CA348367790 | BIN1 | c.466C>T (p.His156Tyr) c.394C>T (p.His132Tyr) c.385C>T (p.His129Tyr) | |
| 2 | g.127068977G>C | CA348367786 | BIN1 | c.466C>G (p.His156Asp) c.394C>G (p.His132Asp) c.385C>G (p.His129Asp) | |
| 2 | g.127068977G>T | CA348367788 | BIN1 | c.466C>A (p.His156Asn) c.394C>A (p.His132Asn) c.385C>A (p.His129Asn) | |
| 2 | g.127068978G>A | CA428588741 | BIN1 | c.465C>T (p.His155=) c.393C>T (p.His131=) c.384C>T (p.His128=) | gnomAD v4 |
| 2 | g.127068978G>C | CA348367792 | BIN1 | c.465C>G (p.His155Gln) c.393C>G (p.His131Gln) c.384C>G (p.His128Gln) | |
| 2 | g.127068978G>T | CA348367794 | BIN1 | c.465C>A (p.His155Gln) c.393C>A (p.His131Gln) c.384C>A (p.His128Gln) | |
| 2 | g.127068979T>A | CA348367797 | BIN1 | c.464A>T (p.His155Leu) c.392A>T (p.His131Leu) c.383A>T (p.His128Leu) | |
| 2 | g.127068979T>C | CA348367800 | BIN1 | c.464A>G (p.His155Arg) c.392A>G (p.His131Arg) c.383A>G (p.His128Arg) | |
| 2 | g.127068979T>G | CA348367802 | BIN1 | c.464A>C (p.His155Pro) c.392A>C (p.His131Pro) c.383A>C (p.His128Pro) | |
| 2 | g.127068980G>A | CA348367807 | BIN1 | c.463C>T (p.His155Tyr) c.391C>T (p.His131Tyr) c.382C>T (p.His128Tyr) | |
| 2 | g.127068980G>C | CA348367804 | BIN1 | c.463C>G (p.His155Asp) c.391C>G (p.His131Asp) c.382C>G (p.His128Asp) | |
| 2 | g.127068980G>T | CA348367805 | BIN1 | c.463C>A (p.His155Asn) c.391C>A (p.His131Asn) c.382C>A (p.His128Asn) | |
| 2 | g.127068981C>A | CA428588750 | BIN1 | c.462G>T (p.Arg154=) c.390G>T (p.Arg130=) c.381G>T (p.Arg127=) | |
| 2 | g.127068981C= | CA1286720634 | BIN1 | c.462G= (p.Arg154=) c.390G= (p.Arg130=) c.381G= (p.Arg127=) | |
| 2 | g.127068981C>G | CA428588751 | BIN1 | c.462G>C (p.Arg154=) c.390G>C (p.Arg130=) c.381G>C (p.Arg127=) | |
| 2 | g.127068981C>T | CA428588753 | BIN1 | c.462G>A (p.Arg154=) c.390G>A (p.Arg130=) c.381G>A (p.Arg127=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127068982C>A | CA348367809 | BIN1 | c.461G>T (p.Arg154Leu) c.389G>T (p.Arg130Leu) c.380G>T (p.Arg127Leu) | dbSNP |
| 2 | g.127068982C= | CA1286720635 | BIN1 | c.461G= (p.Arg154=) c.389G= (p.Arg130=) c.380G= (p.Arg127=) | |
| 2 | g.127068982C>G | CA348367811 | BIN1 | c.461G>C (p.Arg154Pro) c.389G>C (p.Arg130Pro) c.380G>C (p.Arg127Pro) | |
| 2 | g.127068982C>T | CA119462 | BIN1 | c.461G>A (p.Arg154Gln) c.389G>A (p.Arg130Gln) c.380G>A (p.Arg127Gln) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127068983G>A | CA1857472 | BIN1 | c.460C>T (p.Arg154Trp) c.388C>T (p.Arg130Trp) c.379C>T (p.Arg127Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127068983G>C | CA348367816 | BIN1 | c.460C>G (p.Arg154Gly) c.388C>G (p.Arg130Gly) c.379C>G (p.Arg127Gly) | |
| 2 | g.127068983G= | CA1286720636 | BIN1 | c.460C= (p.Arg154=) c.388C= (p.Arg130=) c.379C= (p.Arg127=) | |
| 2 | g.127068983G>T | CA428588759 | BIN1 | c.460C>A (p.Arg154=) c.388C>A (p.Arg130=) c.379C>A (p.Arg127=) | |
| 2 | g.127068984G>A | CA428588762 | BIN1 | c.459C>T (p.Ala153=) c.387C>T (p.Ala129=) c.378C>T (p.Ala126=) | |
| 2 | g.127068984G>C | CA428588764 | BIN1 | c.459C>G (p.Ala153=) c.387C>G (p.Ala129=) c.378C>G (p.Ala126=) | |
| 2 | g.127068984G>T | CA428588766 | BIN1 | c.459C>A (p.Ala153=) c.387C>A (p.Ala129=) c.378C>A (p.Ala126=) | |
| 2 | g.127068985G>A | CA348367819 | BIN1 | c.458C>T (p.Ala153Val) c.386C>T (p.Ala129Val) c.377C>T (p.Ala126Val) | |
| 2 | g.127068985G>C | CA348367820 | BIN1 | c.458C>G (p.Ala153Gly) c.386C>G (p.Ala129Gly) c.377C>G (p.Ala126Gly) | |
| 2 | g.127068985G>T | CA348367821 | BIN1 | c.458C>A (p.Ala153Asp) c.386C>A (p.Ala129Asp) c.377C>A (p.Ala126Asp) | |
| 2 | g.127068986C>A | CA348367823 | BIN1 | c.457G>T (p.Ala153Ser) c.385G>T (p.Ala129Ser) c.376G>T (p.Ala126Ser) | gnomAD v4 |
| 2 | g.127068986C= | CA1286720637 | BIN1 | c.457G= (p.Ala153=) c.385G= (p.Ala129=) c.376G= (p.Ala126=) | |
| 2 | g.127068986C>G | CA348367825 | BIN1 | c.457G>C (p.Ala153Pro) c.385G>C (p.Ala129Pro) c.376G>C (p.Ala126Pro) | |
| 2 | g.127068986C>T | CA348367827 | BIN1 | c.457G>A (p.Ala153Thr) c.385G>A (p.Ala129Thr) c.376G>A (p.Ala126Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127068987A>C | CA348367829 | BIN1 | c.456T>G (p.Ser152Arg) c.384T>G (p.Ser128Arg) c.375T>G (p.Ser125Arg) | |
| 2 | g.127068987A>G | CA428588771 | BIN1 | c.456T>C (p.Ser152=) c.384T>C (p.Ser128=) c.375T>C (p.Ser125=) | |
| 2 | g.127068987A>T | CA348367831 | BIN1 | c.456T>A (p.Ser152Arg) c.384T>A (p.Ser128Arg) c.375T>A (p.Ser125Arg) | |
| 2 | g.127068988C>A | CA348367837 | BIN1 | c.455G>T (p.Ser152Ile) c.383G>T (p.Ser128Ile) c.374G>T (p.Ser125Ile) | |
| 2 | g.127068988C>G | CA348367833 | BIN1 | c.455G>C (p.Ser152Thr) c.383G>C (p.Ser128Thr) c.374G>C (p.Ser125Thr) | gnomAD v4 |
| 2 | g.127068988C>T | CA348367835 | BIN1 | c.455G>A (p.Ser152Asn) c.383G>A (p.Ser128Asn) c.374G>A (p.Ser125Asn) | |
| 2 | g.127068989T>A | CA348367841 | BIN1 | c.454A>T (p.Ser152Cys) c.382A>T (p.Ser128Cys) c.373A>T (p.Ser125Cys) | |
| 2 | g.127068989T>C | CA348367842 | BIN1 | c.454A>G (p.Ser152Gly) c.382A>G (p.Ser128Gly) c.373A>G (p.Ser125Gly) | |
| 2 | g.127068989T>G | CA348367845 | BIN1 | c.454A>C (p.Ser152Arg) c.382A>C (p.Ser128Arg) c.373A>C (p.Ser125Arg) | |
| 2 | g.127068990G>A | CA428588782 | BIN1 | c.453C>T (p.Asp151=) c.381C>T (p.Asp127=) c.372C>T (p.Asp124=) | |
| 2 | g.127068990G>C | CA348367847 | BIN1 | c.453C>G (p.Asp151Glu) c.381C>G (p.Asp127Glu) c.372C>G (p.Asp124Glu) | |
| 2 | g.127068990G>T | CA348367849 | BIN1 | c.453C>A (p.Asp151Glu) c.381C>A (p.Asp127Glu) c.372C>A (p.Asp124Glu) | |
| 2 | g.127068991T>A | CA348367854 | BIN1 | c.452A>T (p.Asp151Val) c.380A>T (p.Asp127Val) c.371A>T (p.Asp124Val) | |
| 2 | g.127068991T>C | CA348367853 | BIN1 | c.452A>G (p.Asp151Gly) c.380A>G (p.Asp127Gly) c.371A>G (p.Asp124Gly) | |
| 2 | g.127068991T>G | CA348367851 | BIN1 | c.452A>C (p.Asp151Ala) c.380A>C (p.Asp127Ala) c.371A>C (p.Asp124Ala) | |
| 2 | g.127068992C>A | CA348367856 | BIN1 | c.451G>T (p.Asp151Tyr) c.379G>T (p.Asp127Tyr) c.370G>T (p.Asp124Tyr) | |
| 2 | g.127068992C= | CA1286720638 | BIN1 | c.451G= (p.Asp151=) c.379G= (p.Asp127=) c.370G= (p.Asp124=) | |
| 2 | g.127068992C>G | CA348367857 | BIN1 | c.451G>C (p.Asp151His) c.379G>C (p.Asp127His) c.370G>C (p.Asp124His) | |
| 2 | g.127068992C>T | CA119459 | BIN1 | c.451G>A (p.Asp151Asn) c.379G>A (p.Asp127Asn) c.370G>A (p.Asp124Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127068993G>A | CA1857473 | BIN1 | c.450C>T (p.Tyr150=) c.378C>T (p.Tyr126=) c.369C>T (p.Tyr123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127068993G>C | CA348367861 | BIN1 | c.450C>G (p.Tyr150Ter) c.378C>G (p.Tyr126Ter) c.369C>G (p.Tyr123Ter) | |
| 2 | g.127068993G= | CA1286720639 | BIN1 | c.450C= (p.Tyr150=) c.378C= (p.Tyr126=) c.369C= (p.Tyr123=) | |
| 2 | g.127068993G>T | CA348367863 | BIN1 | c.450C>A (p.Tyr150Ter) c.378C>A (p.Tyr126Ter) c.369C>A (p.Tyr123Ter) | |
| 2 | g.127068994T>A | CA348367869 | BIN1 | c.449A>T (p.Tyr150Phe) c.377A>T (p.Tyr126Phe) c.368A>T (p.Tyr123Phe) | |
| 2 | g.127068994T>C | CA348367865 | BIN1 | c.449A>G (p.Tyr150Cys) c.377A>G (p.Tyr126Cys) c.368A>G (p.Tyr123Cys) | gnomAD v4 |
| 2 | g.127068994T>G | CA348367867 | BIN1 | c.449A>C (p.Tyr150Ser) c.377A>C (p.Tyr126Ser) c.368A>C (p.Tyr123Ser) | |
| 2 | g.127068995A>C | CA348367871 | BIN1 | c.448T>G (p.Tyr150Asp) c.376T>G (p.Tyr126Asp) c.367T>G (p.Tyr123Asp) | |
| 2 | g.127068995A>G | CA348367874 | BIN1 | c.448T>C (p.Tyr150His) c.376T>C (p.Tyr126His) c.367T>C (p.Tyr123His) | |
| 2 | g.127068995A>T | CA348367876 | BIN1 | c.448T>A (p.Tyr150Asn) c.376T>A (p.Tyr126Asn) c.367T>A (p.Tyr123Asn) | |
| 2 | g.127068996G>A | CA428588804 | BIN1 | c.447C>T (p.Asp149=) c.375C>T (p.Asp125=) c.366C>T (p.Asp122=) | dbSNP gnomAD v4 |
| 2 | g.127068996G>C | CA348367879 | BIN1 | c.447C>G (p.Asp149Glu) c.375C>G (p.Asp125Glu) c.366C>G (p.Asp122Glu) | |
| 2 | g.127068996G= | CA1286720640 | BIN1 | c.447C= (p.Asp149=) c.375C= (p.Asp125=) c.366C= (p.Asp122=) | |
| 2 | g.127068996G>T | CA348367881 | BIN1 | c.447C>A (p.Asp149Glu) c.375C>A (p.Asp125Glu) c.366C>A (p.Asp122Glu) | |
| 2 | g.127068997T>A | CA348367884 | BIN1 | c.446A>T (p.Asp149Val) c.374A>T (p.Asp125Val) c.365A>T (p.Asp122Val) | |
| 2 | g.127068997T>C | CA348367886 | BIN1 | c.446A>G (p.Asp149Gly) c.374A>G (p.Asp125Gly) c.365A>G (p.Asp122Gly) | |
| 2 | g.127068997T>G | CA348367889 | BIN1 | c.446A>C (p.Asp149Ala) c.374A>C (p.Asp125Ala) c.365A>C (p.Asp122Ala) | |
| 2 | g.127068998C>A | CA348367891 | BIN1 | c.445G>T (p.Asp149Tyr) c.373G>T (p.Asp125Tyr) c.364G>T (p.Asp122Tyr) | |
| 2 | g.127068998C>G | CA348367894 | BIN1 | c.445G>C (p.Asp149His) c.373G>C (p.Asp125His) c.364G>C (p.Asp122His) | |
| 2 | g.127068998C>T | CA348367897 | BIN1 | c.445G>A (p.Asp149Asn) c.373G>A (p.Asp125Asn) c.364G>A (p.Asp122Asn) | |
| 2 | g.127068999C>A | CA428588806 | BIN1 | c.444G>T (p.Val148=) c.372G>T (p.Val124=) c.363G>T (p.Val121=) | ClinVar gnomAD v4 |
| 2 | g.127068999C= | CA1286720641 | BIN1 | c.444G= (p.Val148=) c.372G= (p.Val124=) c.363G= (p.Val121=) | |
| 2 | g.127068999C>G | CA428588807 | BIN1 | c.444G>C (p.Val148=) c.372G>C (p.Val124=) c.363G>C (p.Val121=) | |
| 2 | g.127068999C>T | CA55320790 | BIN1 | c.444G>A (p.Val148=) c.372G>A (p.Val124=) c.363G>A (p.Val121=) | dbSNP COSMIC |
| 2 | g.127069000A>C | CA348367903 | BIN1 | c.443T>G (p.Val148Gly) c.371T>G (p.Val124Gly) c.362T>G (p.Val121Gly) | |
| 2 | g.127069000A>G | CA348367907 | BIN1 | c.443T>C (p.Val148Ala) c.371T>C (p.Val124Ala) c.362T>C (p.Val121Ala) | |
| 2 | g.127069000A>T | CA348367905 | BIN1 | c.443T>A (p.Val148Glu) c.371T>A (p.Val124Glu) c.362T>A (p.Val121Glu) | |
| 2 | g.127069001C>A | CA348367910 | BIN1 | c.442G>T (p.Val148Leu) c.370G>T (p.Val124Leu) c.361G>T (p.Val121Leu) | |
| 2 | g.127069001C>G | CA348367912 | BIN1 | c.442G>C (p.Val148Leu) c.370G>C (p.Val124Leu) c.361G>C (p.Val121Leu) | |
| 2 | g.127069001C>T | CA348367914 | BIN1 | c.442G>A (p.Val148Met) c.370G>A (p.Val124Met) c.361G>A (p.Val121Met) | |
| 2 | g.127069002C>A | CA428588818 | BIN1 | c.441G>T (p.Leu147=) c.369G>T (p.Leu123=) c.360G>T (p.Leu120=) | |
| 2 | g.127069002C>G | CA428588822 | BIN1 | c.441G>C (p.Leu147=) c.369G>C (p.Leu123=) c.360G>C (p.Leu120=) | |
| 2 | g.127069002C>T | CA428588820 | BIN1 | c.441G>A (p.Leu147=) c.369G>A (p.Leu123=) c.360G>A (p.Leu120=) | |
| 2 | g.127069003A>C | CA348367917 | BIN1 | c.440T>G (p.Leu147Arg) c.368T>G (p.Leu123Arg) c.359T>G (p.Leu120Arg) | |
| 2 | g.127069003A>G | CA348367920 | BIN1 | c.440T>C (p.Leu147Pro) c.368T>C (p.Leu123Pro) c.359T>C (p.Leu120Pro) | |
| 2 | g.127069003A>T | CA348367922 | BIN1 | c.440T>A (p.Leu147Gln) c.368T>A (p.Leu123Gln) c.359T>A (p.Leu120Gln) | |
| 2 | g.127069004G>A | CA428588833 | BIN1 | c.439C>T (p.Leu147=) c.367C>T (p.Leu123=) c.358C>T (p.Leu120=) | |
| 2 | g.127069004G>C | CA348367928 | BIN1 | c.439C>G (p.Leu147Val) c.367C>G (p.Leu123Val) c.358C>G (p.Leu120Val) | |
| 2 | g.127069004G>T | CA348367925 | BIN1 | c.439C>A (p.Leu147Met) c.367C>A (p.Leu123Met) c.358C>A (p.Leu120Met) |