| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53409202G>A | CA413255655 | SMC1A | c.1405C>T (p.Arg469Cys) c.637C>T (p.Arg213Cys) n.757C>T c.1339C>T (p.Arg447Cys) | gnomAD v4 COSMIC |
| X | g.53409202G>C | CA413255656 | SMC1A | c.1405C>G (p.Arg469Gly) c.637C>G (p.Arg213Gly) n.757C>G c.1339C>G (p.Arg447Gly) | |
| X | g.53409202G>T | CA413255657 | SMC1A | c.1405C>A (p.Arg469Ser) c.637C>A (p.Arg213Ser) n.757C>A c.1339C>A (p.Arg447Ser) | gnomAD v4 |
| X | g.53409203C>A | CA516561947 | SMC1A | c.1404G>T (p.Arg468=) c.636G>T (p.Arg212=) n.756G>T c.1338G>T (p.Arg446=) | |
| X | g.53409203C>G | CA516561948 | SMC1A | c.1404G>C (p.Arg468=) c.636G>C (p.Arg212=) n.756G>C c.1338G>C (p.Arg446=) | |
| X | g.53409203C>T | CA516561949 | SMC1A | c.1404G>A (p.Arg468=) c.636G>A (p.Arg212=) n.756G>A c.1338G>A (p.Arg446=) | ClinVar |
| X | g.53409204C>A | CA413255658 | SMC1A | c.1403G>T (p.Arg468Leu) c.635G>T (p.Arg212Leu) n.755G>T c.1337G>T (p.Arg446Leu) | |
| X | g.53409204C= | CA2429826596 | SMC1A | c.1403G= (p.Arg468=) c.635G= (p.Arg212=) n.755G= c.1337G= (p.Arg446=) | |
| X | g.53409204C>G | CA413255659 | SMC1A | c.1403G>C (p.Arg468Pro) c.635G>C (p.Arg212Pro) n.755G>C c.1337G>C (p.Arg446Pro) | |
| X | g.53409204C>T | CA413255660 | SMC1A | c.1403G>A (p.Arg468Gln) c.635G>A (p.Arg212Gln) n.755G>A c.1337G>A (p.Arg446Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.53409205G>A | CA413255661 | SMC1A | c.1402C>T (p.Arg468Trp) c.634C>T (p.Arg212Trp) n.754C>T c.1336C>T (p.Arg446Trp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53409205G>C | CA413255662 | SMC1A | c.1402C>G (p.Arg468Gly) c.634C>G (p.Arg212Gly) n.754C>G c.1336C>G (p.Arg446Gly) | |
| X | g.53409205G= | CA2429826602 | SMC1A | c.1402C= (p.Arg468=) c.634C= (p.Arg212=) n.754C= c.1336C= (p.Arg446=) | |
| X | g.53409205G>T | CA516561950 | SMC1A | c.1402C>A (p.Arg468=) c.634C>A (p.Arg212=) n.754C>A c.1336C>A (p.Arg446=) | ClinVar dbSNP |
| X | g.53409206C>A | CA413255664 | SMC1A | c.1401G>T (p.Lys467Asn) c.633G>T (p.Lys211Asn) n.753G>T c.1335G>T (p.Lys445Asn) | |
| X | g.53409206C>G | CA413255663 | SMC1A | c.1401G>C (p.Lys467Asn) c.633G>C (p.Lys211Asn) n.753G>C c.1335G>C (p.Lys445Asn) | |
| X | g.53409206C>T | CA516561951 | SMC1A | c.1401G>A (p.Lys467=) c.633G>A (p.Lys211=) n.753G>A c.1335G>A (p.Lys445=) | |
| X | g.53409207T>A | CA413255665 | SMC1A | c.1400A>T (p.Lys467Met) c.632A>T (p.Lys211Met) n.752A>T c.1334A>T (p.Lys445Met) | |
| X | g.53409207T>C | CA413255666 | SMC1A | c.1400A>G (p.Lys467Arg) c.632A>G (p.Lys211Arg) n.752A>G c.1334A>G (p.Lys445Arg) | |
| X | g.53409207T>G | CA413255667 | SMC1A | c.1400A>C (p.Lys467Thr) c.632A>C (p.Lys211Thr) n.752A>C c.1334A>C (p.Lys445Thr) | |
| X | g.53409208T>A | CA413255668 | SMC1A | c.1399A>T (p.Lys467Ter) c.631A>T (p.Lys211Ter) n.751A>T c.1333A>T (p.Lys445Ter) | |
| X | g.53409208T>C | CA413255669 | SMC1A | c.1399A>G (p.Lys467Glu) c.631A>G (p.Lys211Glu) n.751A>G c.1333A>G (p.Lys445Glu) | |
| X | g.53409208T>G | CA413255670 | SMC1A | c.1399A>C (p.Lys467Gln) c.631A>C (p.Lys211Gln) n.751A>C c.1333A>C (p.Lys445Gln) | |
| X | g.53409209G>A | CA516561952 | SMC1A | c.1398C>T (p.Ala466=) c.630C>T (p.Ala210=) n.750C>T c.1332C>T (p.Ala444=) | |
| X | g.53409209G>C | CA516561953 | SMC1A | c.1398C>G (p.Ala466=) c.630C>G (p.Ala210=) n.750C>G c.1332C>G (p.Ala444=) | |
| X | g.53409209G>T | CA516561954 | SMC1A | c.1398C>A (p.Ala466=) c.630C>A (p.Ala210=) n.750C>A c.1332C>A (p.Ala444=) | |
| X | g.53409210G>A | CA413255671 | SMC1A | c.1397C>T (p.Ala466Val) c.629C>T (p.Ala210Val) n.749C>T c.1331C>T (p.Ala444Val) | |
| X | g.53409210G>C | CA413255672 | SMC1A | c.1397C>G (p.Ala466Gly) c.629C>G (p.Ala210Gly) n.749C>G c.1331C>G (p.Ala444Gly) | |
| X | g.53409210G>T | CA413255673 | SMC1A | c.1397C>A (p.Ala466Asp) c.629C>A (p.Ala210Asp) n.749C>A c.1331C>A (p.Ala444Asp) | |
| X | g.53409211C>A | CA413255674 | SMC1A | c.1396G>T (p.Ala466Ser) c.628G>T (p.Ala210Ser) n.748G>T c.1330G>T (p.Ala444Ser) | ClinVar |
| X | g.53409211C>G | CA413255675 | SMC1A | c.1396G>C (p.Ala466Pro) c.628G>C (p.Ala210Pro) n.748G>C c.1330G>C (p.Ala444Pro) | |
| X | g.53409211C>T | CA413255676 | SMC1A | c.1396G>A (p.Ala466Thr) c.628G>A (p.Ala210Thr) n.748G>A c.1330G>A (p.Ala444Thr) | |
| X | g.53409212C>A | CA413255677 | SMC1A | c.1395G>T (p.Met465Ile) c.627G>T (p.Met209Ile) n.747G>T c.1329G>T (p.Met443Ile) | |
| X | g.53409212C= | CA2429826605 | SMC1A | c.1395G= (p.Met465=) c.627G= (p.Met209=) n.747G= c.1329G= (p.Met443=) | |
| X | g.53409212C>G | CA413255678 | SMC1A | c.1395G>C (p.Met465Ile) c.627G>C (p.Met209Ile) n.747G>C c.1329G>C (p.Met443Ile) | |
| X | g.53409212C>T | CA10420558 | SMC1A | c.1395G>A (p.Met465Ile) c.627G>A (p.Met209Ile) n.747G>A c.1329G>A (p.Met443Ile) | dbSNP ExAC gnomAD v2 |
| X | g.53409213A>C | CA413255681 | SMC1A | c.1394T>G (p.Met465Arg) c.626T>G (p.Met209Arg) n.746T>G c.1328T>G (p.Met443Arg) | |
| X | g.53409213A>G | CA413255679 | SMC1A | c.1394T>C (p.Met465Thr) c.626T>C (p.Met209Thr) n.746T>C c.1328T>C (p.Met443Thr) | |
| X | g.53409213A>T | CA413255680 | SMC1A | c.1394T>A (p.Met465Lys) c.626T>A (p.Met209Lys) n.746T>A c.1328T>A (p.Met443Lys) | |
| X | g.53409214T>A | CA413255682 | SMC1A | c.1393A>T (p.Met465Leu) c.625A>T (p.Met209Leu) n.745A>T c.1327A>T (p.Met443Leu) | |
| X | g.53409214T>C | CA413255683 | SMC1A | c.1393A>G (p.Met465Val) c.625A>G (p.Met209Val) n.745A>G c.1327A>G (p.Met443Val) | |
| X | g.53409214T>G | CA413255684 | SMC1A | c.1393A>C (p.Met465Leu) c.625A>C (p.Met209Leu) n.745A>C c.1327A>C (p.Met443Leu) | |
| X | g.53409215C>A | CA413255685 | SMC1A | c.1392G>T (p.Glu464Asp) c.624G>T (p.Glu208Asp) n.744G>T c.1326G>T (p.Glu442Asp) | |
| X | g.53409215C>G | CA413255686 | SMC1A | c.1392G>C (p.Glu464Asp) c.624G>C (p.Glu208Asp) n.744G>C c.1326G>C (p.Glu442Asp) | |
| X | g.53409215C>T | CA516561957 | SMC1A | c.1392G>A (p.Glu464=) c.624G>A (p.Glu208=) n.744G>A c.1326G>A (p.Glu442=) | |
| X | g.53409216T>A | CA413255687 | SMC1A | c.1391A>T (p.Glu464Val) c.623A>T (p.Glu208Val) n.743A>T c.1325A>T (p.Glu442Val) | |
| X | g.53409216T>C | CA413255689 | SMC1A | c.1391A>G (p.Glu464Gly) c.623A>G (p.Glu208Gly) n.743A>G c.1325A>G (p.Glu442Gly) | |
| X | g.53409216T>G | CA413255688 | SMC1A | c.1391A>C (p.Glu464Ala) c.623A>C (p.Glu208Ala) n.743A>C c.1325A>C (p.Glu442Ala) | |
| X | g.53409217C>A | CA413255690 | SMC1A | c.1390G>T (p.Glu464Ter) c.622G>T (p.Glu208Ter) n.742G>T c.1324G>T (p.Glu442Ter) | |
| X | g.53409217C>G | CA413255691 | SMC1A | c.1390G>C (p.Glu464Gln) c.622G>C (p.Glu208Gln) n.742G>C c.1324G>C (p.Glu442Gln) | |
| X | g.53409217C>T | CA413255692 | SMC1A | c.1390G>A (p.Glu464Lys) c.622G>A (p.Glu208Lys) n.742G>A c.1324G>A (p.Glu442Lys) | |
| X | g.53409218C>A | CA516561959 | SMC1A | c.1389G>T (p.Val463=) c.621G>T (p.Val207=) n.741G>T c.1323G>T (p.Val441=) | |
| X | g.53409218C= | CA2429826606 | SMC1A | c.1389G= (p.Val463=) c.621G= (p.Val207=) n.741G= c.1323G= (p.Val441=) | |
| X | g.53409218C>G | CA516561960 | SMC1A | c.1389G>C (p.Val463=) c.621G>C (p.Val207=) n.741G>C c.1323G>C (p.Val441=) | |
| X | g.53409218C>T | CA10420559 | SMC1A | c.1389G>A (p.Val463=) c.621G>A (p.Val207=) n.741G>A c.1323G>A (p.Val441=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53409218_53409219insG | CA16044384 | SMC1A | c.1388_1389insC (p.Glu464GlyfsTer8) c.620_621insC (p.Glu208GlyfsTer8) n.740_741insC c.1322_1323insC (p.Glu442GlyfsTer8) | ClinVar dbSNP |
| X | g.53409219A>C | CA413255695 | SMC1A | c.1388T>G (p.Val463Gly) c.620T>G (p.Val207Gly) n.740T>G c.1322T>G (p.Val441Gly) | |
| X | g.53409219A>G | CA413255694 | SMC1A | c.1388T>C (p.Val463Ala) c.620T>C (p.Val207Ala) n.740T>C c.1322T>C (p.Val441Ala) | |
| X | g.53409219A>T | CA413255693 | SMC1A | c.1388T>A (p.Val463Glu) c.620T>A (p.Val207Glu) n.740T>A c.1322T>A (p.Val441Glu) | |
| X | g.53409220C>A | CA413255696 | SMC1A | c.1387G>T (p.Val463Leu) c.619G>T (p.Val207Leu) n.739G>T c.1321G>T (p.Val441Leu) | |
| X | g.53409220C>G | CA413255697 | SMC1A | c.1387G>C (p.Val463Leu) c.619G>C (p.Val207Leu) n.739G>C c.1321G>C (p.Val441Leu) | |
| X | g.53409220C>T | CA413255698 | SMC1A | c.1387G>A (p.Val463Met) c.619G>A (p.Val207Met) n.739G>A c.1321G>A (p.Val441Met) | |
| X | g.53409221C>A | CA413255699 | SMC1A | c.1386G>T (p.Glu462Asp) c.618G>T (p.Glu206Asp) n.738G>T c.1320G>T (p.Glu440Asp) | |
| X | g.53409221C>G | CA413255700 | SMC1A | c.1386G>C (p.Glu462Asp) c.618G>C (p.Glu206Asp) n.738G>C c.1320G>C (p.Glu440Asp) | |
| X | g.53409221C>T | CA516561961 | SMC1A | c.1386G>A (p.Glu462=) c.618G>A (p.Glu206=) n.738G>A c.1320G>A (p.Glu440=) | gnomAD v4 |
| X | g.53409222T>A | CA413255701 | SMC1A | c.1385A>T (p.Glu462Val) c.617A>T (p.Glu206Val) n.737A>T c.1319A>T (p.Glu440Val) | |
| X | g.53409222T>C | CA413255702 | SMC1A | c.1385A>G (p.Glu462Gly) c.617A>G (p.Glu206Gly) n.737A>G c.1319A>G (p.Glu440Gly) | |
| X | g.53409222T>G | CA413255703 | SMC1A | c.1385A>C (p.Glu462Ala) c.617A>C (p.Glu206Ala) n.737A>C c.1319A>C (p.Glu440Ala) | |
| X | g.53409223C>A | CA413255704 | SMC1A | c.1384G>T (p.Glu462Ter) c.616G>T (p.Glu206Ter) n.736G>T c.1318G>T (p.Glu440Ter) | |
| X | g.53409223C>G | CA413255705 | SMC1A | c.1384G>C (p.Glu462Gln) c.616G>C (p.Glu206Gln) n.736G>C c.1318G>C (p.Glu440Gln) | |
| X | g.53409223C>T | CA413255706 | SMC1A | c.1384G>A (p.Glu462Lys) c.616G>A (p.Glu206Lys) n.736G>A c.1318G>A (p.Glu440Lys) | |
| X | g.53409224C>A | CA413255707 | SMC1A | c.1383G>T (p.Glu461Asp) c.615G>T (p.Glu205Asp) n.735G>T c.1317G>T (p.Glu439Asp) | |
| X | g.53409224C>G | CA413255708 | SMC1A | c.1383G>C (p.Glu461Asp) c.615G>C (p.Glu205Asp) n.735G>C c.1317G>C (p.Glu439Asp) | |
| X | g.53409224C>T | CA516561962 | SMC1A | c.1383G>A (p.Glu461=) c.615G>A (p.Glu205=) n.735G>A c.1317G>A (p.Glu439=) | |
| X | g.53409225T>A | CA413255709 | SMC1A | c.1382A>T (p.Glu461Val) c.614A>T (p.Glu205Val) n.734A>T c.1316A>T (p.Glu439Val) | |
| X | g.53409225T>C | CA413255710 | SMC1A | c.1382A>G (p.Glu461Gly) c.614A>G (p.Glu205Gly) n.734A>G c.1316A>G (p.Glu439Gly) | |
| X | g.53409225T>G | CA413255711 | SMC1A | c.1382A>C (p.Glu461Ala) c.614A>C (p.Glu205Ala) n.734A>C c.1316A>C (p.Glu439Ala) | |
| X | g.53409226C>A | CA413255712 | SMC1A | c.1381G>T (p.Glu461Ter) c.613G>T (p.Glu205Ter) n.733G>T c.1315G>T (p.Glu439Ter) | |
| X | g.53409226C>G | CA413255713 | SMC1A | c.1381G>C (p.Glu461Gln) c.613G>C (p.Glu205Gln) n.733G>C c.1315G>C (p.Glu439Gln) | |
| X | g.53409226C>T | CA413255714 | SMC1A | c.1381G>A (p.Glu461Lys) c.613G>A (p.Glu205Lys) n.733G>A c.1315G>A (p.Glu439Lys) | |
| X | g.53409227T>A | CA516561963 | SMC1A | c.1380A>T (p.Thr460=) c.612A>T (p.Thr204=) n.732A>T c.1314A>T (p.Thr438=) | |
| X | g.53409227T>C | CA516561964 | SMC1A | c.1380A>G (p.Thr460=) c.612A>G (p.Thr204=) n.732A>G c.1314A>G (p.Thr438=) | |
| X | g.53409227T>G | CA516561965 | SMC1A | c.1380A>C (p.Thr460=) c.612A>C (p.Thr204=) n.732A>C c.1314A>C (p.Thr438=) | |
| X | g.53409228G>A | CA413255715 | SMC1A | c.1379C>T (p.Thr460Ile) c.611C>T (p.Thr204Ile) n.731C>T c.1313C>T (p.Thr438Ile) | |
| X | g.53409228G>C | CA413255716 | SMC1A | c.1379C>G (p.Thr460Arg) c.611C>G (p.Thr204Arg) n.731C>G c.1313C>G (p.Thr438Arg) | |
| X | g.53409228G>T | CA413255717 | SMC1A | c.1379C>A (p.Thr460Lys) c.611C>A (p.Thr204Lys) n.731C>A c.1313C>A (p.Thr438Lys) | |
| X | g.53409229T>A | CA413255718 | SMC1A | c.1378A>T (p.Thr460Ser) c.610A>T (p.Thr204Ser) n.730A>T c.1312A>T (p.Thr438Ser) | |
| X | g.53409229T>C | CA413255719 | SMC1A | c.1378A>G (p.Thr460Ala) c.610A>G (p.Thr204Ala) n.730A>G c.1312A>G (p.Thr438Ala) | |
| X | g.53409229T>G | CA413255720 | SMC1A | c.1378A>C (p.Thr460Pro) c.610A>C (p.Thr204Pro) n.730A>C c.1312A>C (p.Thr438Pro) | |
| X | g.53409230C>A | CA516561966 | SMC1A | c.1377G>T (p.Leu459=) c.609G>T (p.Leu203=) n.729G>T c.1311G>T (p.Leu437=) | |
| X | g.53409230C>G | CA516561967 | SMC1A | c.1377G>C (p.Leu459=) c.609G>C (p.Leu203=) n.729G>C c.1311G>C (p.Leu437=) | |
| X | g.53409230C>T | CA516561968 | SMC1A | c.1377G>A (p.Leu459=) c.609G>A (p.Leu203=) n.729G>A c.1311G>A (p.Leu437=) | COSMIC |
| X | g.53409231A>C | CA413255722 | SMC1A | c.1376T>G (p.Leu459Arg) c.608T>G (p.Leu203Arg) n.728T>G c.1310T>G (p.Leu437Arg) | |
| X | g.53409231A>G | CA413255723 | SMC1A | c.1376T>C (p.Leu459Pro) c.608T>C (p.Leu203Pro) n.728T>C c.1310T>C (p.Leu437Pro) | |
| X | g.53409231A>T | CA413255721 | SMC1A | c.1376T>A (p.Leu459Gln) c.608T>A (p.Leu203Gln) n.728T>A c.1310T>A (p.Leu437Gln) | |
| X | g.53409232G>A | CA516561997 | SMC1A | c.1375C>T (p.Leu459=) c.607C>T (p.Leu203=) n.727C>T c.1309C>T (p.Leu437=) | |
| X | g.53409232G>C | CA413255724 | SMC1A | c.1375C>G (p.Leu459Val) c.607C>G (p.Leu203Val) n.727C>G c.1309C>G (p.Leu437Val) | |
| X | g.53409232G>T | CA413255725 | SMC1A | c.1375C>A (p.Leu459Met) c.607C>A (p.Leu203Met) n.727C>A c.1309C>A (p.Leu437Met) | |
| X | g.53409233C>A | CA413255726 | SMC1A | c.1374G>T (p.Glu458Asp) c.606G>T (p.Glu202Asp) n.726G>T c.1308G>T (p.Glu436Asp) | |
| X | g.53409233C>G | CA413255727 | SMC1A | c.1374G>C (p.Glu458Asp) c.606G>C (p.Glu202Asp) n.726G>C c.1308G>C (p.Glu436Asp) | |
| X | g.53409233C>T | CA516561998 | SMC1A | c.1374G>A (p.Glu458=) c.606G>A (p.Glu202=) n.726G>A c.1308G>A (p.Glu436=) | gnomAD v4 |
| X | g.53409234T>A | CA413255730 | SMC1A | c.1373A>T (p.Glu458Val) c.605A>T (p.Glu202Val) n.725A>T c.1307A>T (p.Glu436Val) | |
| X | g.53409234T>C | CA413255729 | SMC1A | c.1373A>G (p.Glu458Gly) c.605A>G (p.Glu202Gly) n.725A>G c.1307A>G (p.Glu436Gly) | |
| X | g.53409234T>G | CA413255728 | SMC1A | c.1373A>C (p.Glu458Ala) c.605A>C (p.Glu202Ala) n.725A>C c.1307A>C (p.Glu436Ala) | |
| X | g.53409235C>A | CA413255731 | SMC1A | c.1372G>T (p.Glu458Ter) c.604G>T (p.Glu202Ter) n.724G>T c.1306G>T (p.Glu436Ter) | |
| X | g.53409235C>G | CA413255732 | SMC1A | c.1372G>C (p.Glu458Gln) c.604G>C (p.Glu202Gln) n.724G>C c.1306G>C (p.Glu436Gln) | |
| X | g.53409235C>T | CA413255733 | SMC1A | c.1372G>A (p.Glu458Lys) c.604G>A (p.Glu202Lys) n.724G>A c.1306G>A (p.Glu436Lys) | |
| X | g.53409236C>A | CA516562001 | SMC1A | c.1371G>T (p.Gly457=) c.603G>T (p.Gly201=) n.723G>T c.1305G>T (p.Gly435=) | |
| X | g.53409236C>G | CA516562000 | SMC1A | c.1371G>C (p.Gly457=) c.603G>C (p.Gly201=) n.723G>C c.1305G>C (p.Gly435=) | |
| X | g.53409236C>T | CA516561999 | SMC1A | c.1371G>A (p.Gly457=) c.603G>A (p.Gly201=) n.723G>A c.1305G>A (p.Gly435=) | |
| X | g.53409237C>A | CA413255734 | SMC1A | c.1370G>T (p.Gly457Val) c.602G>T (p.Gly201Val) n.722G>T c.1304G>T (p.Gly435Val) | |
| X | g.53409237C= | CA2429826611 | SMC1A | c.1370G= (p.Gly457=) c.602G= (p.Gly201=) n.722G= c.1304G= (p.Gly435=) | |
| X | g.53409237C>G | CA413255735 | SMC1A | c.1370G>C (p.Gly457Ala) c.602G>C (p.Gly201Ala) n.722G>C c.1304G>C (p.Gly435Ala) | ClinVar dbSNP |
| X | g.53409237C>T | CA413255736 | SMC1A | c.1370G>A (p.Gly457Glu) c.602G>A (p.Gly201Glu) n.722G>A c.1304G>A (p.Gly435Glu) | gnomAD v4 |
| X | g.53409238C>A | CA413255739 | SMC1A | c.1369G>T (p.Gly457Trp) c.601G>T (p.Gly201Trp) n.721G>T c.1303G>T (p.Gly435Trp) | |
| X | g.53409238C>G | CA413255738 | SMC1A | c.1369G>C (p.Gly457Arg) c.601G>C (p.Gly201Arg) n.721G>C c.1303G>C (p.Gly435Arg) | ClinVar gnomAD v4 |
| X | g.53409238C>T | CA413255737 | SMC1A | c.1369G>A (p.Gly457Arg) c.601G>A (p.Gly201Arg) n.721G>A c.1303G>A (p.Gly435Arg) | |
| X | g.53409239C>A | CA413255740 | SMC1A | c.1368G>T (p.Glu456Asp) c.600G>T (p.Glu200Asp) n.720G>T c.1302G>T (p.Glu434Asp) | |
| X | g.53409239C>G | CA413255741 | SMC1A | c.1368G>C (p.Glu456Asp) c.600G>C (p.Glu200Asp) n.720G>C c.1302G>C (p.Glu434Asp) | gnomAD v4 |
| X | g.53409239C>T | CA516562002 | SMC1A | c.1368G>A (p.Glu456=) c.600G>A (p.Glu200=) n.720G>A c.1302G>A (p.Glu434=) | |
| X | g.53409240T>A | CA413255742 | SMC1A | c.1367A>T (p.Glu456Val) c.599A>T (p.Glu200Val) n.719A>T c.1301A>T (p.Glu434Val) | |
| X | g.53409240T>C | CA413255743 | SMC1A | c.1367A>G (p.Glu456Gly) c.599A>G (p.Glu200Gly) n.719A>G c.1301A>G (p.Glu434Gly) | |
| X | g.53409240T>G | CA413255744 | SMC1A | c.1367A>C (p.Glu456Ala) c.599A>C (p.Glu200Ala) n.719A>C c.1301A>C (p.Glu434Ala) | |
| X | g.53409241C>A | CA413255745 | SMC1A | c.1366G>T (p.Glu456Ter) c.598G>T (p.Glu200Ter) n.718G>T c.1300G>T (p.Glu434Ter) | |
| X | g.53409241C>G | CA413255746 | SMC1A | c.1366G>C (p.Glu456Gln) c.598G>C (p.Glu200Gln) n.718G>C c.1300G>C (p.Glu434Gln) | |
| X | g.53409241C>T | CA413255747 | SMC1A | c.1366G>A (p.Glu456Lys) c.598G>A (p.Glu200Lys) n.718G>A c.1300G>A (p.Glu434Lys) | |
| X | g.53409242T>A | CA516562003 | SMC1A | c.1365A>T (p.Leu455=) c.597A>T (p.Leu199=) n.717A>T c.1299A>T (p.Leu433=) | |
| X | g.53409242T>C | CA516562004 | SMC1A | c.1365A>G (p.Leu455=) c.597A>G (p.Leu199=) n.717A>G c.1299A>G (p.Leu433=) | |
| X | g.53409242T>G | CA516562005 | SMC1A | c.1365A>C (p.Leu455=) c.597A>C (p.Leu199=) n.717A>C c.1299A>C (p.Leu433=) | |
| X | g.53409243A= | CA2429826616 | SMC1A | c.1364T= (p.Leu455=) c.596T= (p.Leu199=) n.716T= c.1298T= (p.Leu433=) | |
| X | g.53409243A>C | CA413255748 | SMC1A | c.1364T>G (p.Leu455Arg) c.596T>G (p.Leu199Arg) n.716T>G c.1298T>G (p.Leu433Arg) | |
| X | g.53409243A>G | CA10605564 | SMC1A | c.1364T>C (p.Leu455Pro) c.596T>C (p.Leu199Pro) n.716T>C c.1298T>C (p.Leu433Pro) | ClinVar dbSNP |
| X | g.53409243A>T | CA413255749 | SMC1A | c.1364T>A (p.Leu455Gln) c.596T>A (p.Leu199Gln) n.716T>A c.1298T>A (p.Leu433Gln) | |
| X | g.53409244G>A | CA516562006 | SMC1A | c.1363C>T (p.Leu455=) c.595C>T (p.Leu199=) n.715C>T c.1297C>T (p.Leu433=) | |
| X | g.53409244G>C | CA413255750 | SMC1A | c.1363C>G (p.Leu455Val) c.595C>G (p.Leu199Val) n.715C>G c.1297C>G (p.Leu433Val) | |
| X | g.53409244G>T | CA413255751 | SMC1A | c.1363C>A (p.Leu455Ile) c.595C>A (p.Leu199Ile) n.715C>A c.1297C>A (p.Leu433Ile) | |
| X | g.53409245C>A | CA413255752 | SMC1A | c.1362G>T (p.Lys454Asn) c.594G>T (p.Lys198Asn) n.714G>T c.1296G>T (p.Lys432Asn) | |
| X | g.53409245C>G | CA413255753 | SMC1A | c.1362G>C (p.Lys454Asn) c.594G>C (p.Lys198Asn) n.714G>C c.1296G>C (p.Lys432Asn) | |
| X | g.53409245C>T | CA516562007 | SMC1A | c.1362G>A (p.Lys454=) c.594G>A (p.Lys198=) n.714G>A c.1296G>A (p.Lys432=) | |
| X | g.53409246T>A | CA413255756 | SMC1A | c.1361A>T (p.Lys454Met) c.593A>T (p.Lys198Met) n.713A>T c.1295A>T (p.Lys432Met) | |
| X | g.53409246T>C | CA413255754 | SMC1A | c.1361A>G (p.Lys454Arg) c.593A>G (p.Lys198Arg) n.713A>G c.1295A>G (p.Lys432Arg) | gnomAD v4 |
| X | g.53409246T>G | CA413255755 | SMC1A | c.1361A>C (p.Lys454Thr) c.593A>C (p.Lys198Thr) n.713A>C c.1295A>C (p.Lys432Thr) | |
| X | g.53409247T>A | CA413255757 | SMC1A | c.1360A>T (p.Lys454Ter) c.592A>T (p.Lys198Ter) n.712A>T c.1294A>T (p.Lys432Ter) | |
| X | g.53409247T>C | CA413255758 | SMC1A | c.1360A>G (p.Lys454Glu) c.592A>G (p.Lys198Glu) n.712A>G c.1294A>G (p.Lys432Glu) | |
| X | g.53409247T>G | CA413255759 | SMC1A | c.1360A>C (p.Lys454Gln) c.592A>C (p.Lys198Gln) n.712A>C c.1294A>C (p.Lys432Gln) | |
| X | g.53409248C>A | CA413255760 | SMC1A | c.1359G>T (p.Lys453Asn) c.591G>T (p.Lys197Asn) n.711G>T c.1293G>T (p.Lys431Asn) | gnomAD v4 |
| X | g.53409248C>G | CA413255761 | SMC1A | c.1359G>C (p.Lys453Asn) c.591G>C (p.Lys197Asn) n.711G>C c.1293G>C (p.Lys431Asn) | |
| X | g.53409248C>T | CA516562008 | SMC1A | c.1359G>A (p.Lys453=) c.591G>A (p.Lys197=) n.711G>A c.1293G>A (p.Lys431=) | |
| X | g.53409249T>A | CA413255762 | SMC1A | c.1358A>T (p.Lys453Met) c.590A>T (p.Lys197Met) n.710A>T c.1292A>T (p.Lys431Met) | |
| X | g.53409249T>C | CA413255763 | SMC1A | c.1358A>G (p.Lys453Arg) c.590A>G (p.Lys197Arg) n.710A>G c.1292A>G (p.Lys431Arg) | |
| X | g.53409249T>G | CA413255764 | SMC1A | c.1358A>C (p.Lys453Thr) c.590A>C (p.Lys197Thr) n.710A>C c.1292A>C (p.Lys431Thr) | |
| X | g.53409250T>A | CA413255765 | SMC1A | c.1357A>T (p.Lys453Ter) c.589A>T (p.Lys197Ter) n.709A>T c.1291A>T (p.Lys431Ter) | |
| X | g.53409250T>C | CA413255766 | SMC1A | c.1357A>G (p.Lys453Glu) c.589A>G (p.Lys197Glu) n.709A>G c.1291A>G (p.Lys431Glu) | |
| X | g.53409250T>G | CA413255767 | SMC1A | c.1357A>C (p.Lys453Gln) c.589A>C (p.Lys197Gln) n.709A>C c.1291A>C (p.Lys431Gln) | |
| X | g.53409251C>A | CA413255768 | SMC1A | c.1356G>T (p.Gln452His) c.588G>T (p.Gln196His) n.708G>T c.1290G>T (p.Gln430His) | |
| X | g.53409251C>G | CA413255769 | SMC1A | c.1356G>C (p.Gln452His) c.588G>C (p.Gln196His) n.708G>C c.1290G>C (p.Gln430His) | |
| X | g.53409251C>T | CA516562009 | SMC1A | c.1356G>A (p.Gln452=) c.588G>A (p.Gln196=) n.708G>A c.1290G>A (p.Gln430=) | |
| X | g.53409252T>A | CA413255770 | SMC1A | c.1355A>T (p.Gln452Leu) c.587A>T (p.Gln196Leu) n.707A>T c.1289A>T (p.Gln430Leu) | |
| X | g.53409252T>C | CA413255772 | SMC1A | c.1355A>G (p.Gln452Arg) c.587A>G (p.Gln196Arg) n.707A>G c.1289A>G (p.Gln430Arg) | |
| X | g.53409252T>G | CA413255771 | SMC1A | c.1355A>C (p.Gln452Pro) c.587A>C (p.Gln196Pro) n.707A>C c.1289A>C (p.Gln430Pro) | |
| X | g.53409253G>A | CA413255773 | SMC1A | c.1354C>T (p.Gln452Ter) c.586C>T (p.Gln196Ter) n.706C>T c.1288C>T (p.Gln430Ter) | |
| X | g.53409253G>C | CA413255774 | SMC1A | c.1354C>G (p.Gln452Glu) c.586C>G (p.Gln196Glu) n.706C>G c.1288C>G (p.Gln430Glu) | gnomAD v4 |
| X | g.53409253G>T | CA413255775 | SMC1A | c.1354C>A (p.Gln452Lys) c.586C>A (p.Gln196Lys) n.706C>A c.1288C>A (p.Gln430Lys) | gnomAD v4 |
| X | g.53409254C>A | CA413255776 | SMC1A | c.1353G>T (p.Glu451Asp) c.585G>T (p.Glu195Asp) n.705G>T c.1287G>T (p.Glu429Asp) | |
| X | g.53409254C= | CA2429826620 | SMC1A | c.1353G= (p.Glu451=) c.585G= (p.Glu195=) n.705G= c.1287G= (p.Glu429=) | |
| X | g.53409254C>G | CA413255777 | SMC1A | c.1353G>C (p.Glu451Asp) c.585G>C (p.Glu195Asp) n.705G>C c.1287G>C (p.Glu429Asp) | |
| X | g.53409254C>T | CA516562010 | SMC1A | c.1353G>A (p.Glu451=) c.585G>A (p.Glu195=) n.705G>A c.1287G>A (p.Glu429=) | dbSNP |
| X | g.53409255T>A | CA413255778 | SMC1A | c.1352A>T (p.Glu451Val) c.584A>T (p.Glu195Val) n.704A>T c.1286A>T (p.Glu429Val) | |
| X | g.53409255T>C | CA413255779 | SMC1A | c.1352A>G (p.Glu451Gly) c.584A>G (p.Glu195Gly) n.704A>G c.1286A>G (p.Glu429Gly) | |
| X | g.53409255T>G | CA413255780 | SMC1A | c.1352A>C (p.Glu451Ala) c.584A>C (p.Glu195Ala) n.704A>C c.1286A>C (p.Glu429Ala) | |
| X | g.53409256C>A | CA413255781 | SMC1A | c.1351G>T (p.Glu451Ter) c.583G>T (p.Glu195Ter) n.703G>T c.1285G>T (p.Glu429Ter) | |
| X | g.53409256C>G | CA413255782 | SMC1A | c.1351G>C (p.Glu451Gln) c.583G>C (p.Glu195Gln) n.703G>C c.1285G>C (p.Glu429Gln) | |
| X | g.53409256C>T | CA413255783 | SMC1A | c.1351G>A (p.Glu451Lys) c.583G>A (p.Glu195Lys) n.703G>A c.1285G>A (p.Glu429Lys) | |
| X | g.53409257T>A | CA413255784 | SMC1A | c.1350A>T (p.Glu450Asp) c.582A>T (p.Glu194Asp) n.702A>T c.1284A>T (p.Glu428Asp) | |
| X | g.53409257T>C | CA516562011 | SMC1A | c.1350A>G (p.Glu450=) c.582A>G (p.Glu194=) n.702A>G c.1284A>G (p.Glu428=) | |
| X | g.53409257T>G | CA413255785 | SMC1A | c.1350A>C (p.Glu450Asp) c.582A>C (p.Glu194Asp) n.702A>C c.1284A>C (p.Glu428Asp) | |
| X | g.53409258T>A | CA413255787 | SMC1A | c.1349A>T (p.Glu450Val) c.581A>T (p.Glu194Val) n.701A>T c.1283A>T (p.Glu428Val) | |
| X | g.53409258T>C | CA413255786 | SMC1A | c.1349A>G (p.Glu450Gly) c.581A>G (p.Glu194Gly) n.701A>G c.1283A>G (p.Glu428Gly) | gnomAD v4 |
| X | g.53409258T>G | CA329907446 | SMC1A | c.1349A>C (p.Glu450Ala) c.581A>C (p.Glu194Ala) n.701A>C c.1283A>C (p.Glu428Ala) | dbSNP gnomAD v4 |
| X | g.53409258T= | CA2429826627 | SMC1A | c.1349A= (p.Glu450=) c.581A= (p.Glu194=) n.701A= c.1283A= (p.Glu428=) | |
| X | g.53409258_53409265delinsTCTAGGGA | CA2429826625 | SMC1A | c.1342_1349delinsTCCCTAGA (p.Ser448=) c.574_581delinsTCCCTAGA (p.Ser192=) n.694_701delinsTCCCTAGA c.1276_1283delinsTCCCTAGA (p.Ser426=) | |
| X | g.53409259C>A | CA413255788 | SMC1A | c.1348G>T (p.Glu450Ter) c.580G>T (p.Glu194Ter) n.700G>T c.1282G>T (p.Glu428Ter) | |
| X | g.53409259C>G | CA413255789 | SMC1A | c.1348G>C (p.Glu450Gln) c.580G>C (p.Glu194Gln) n.700G>C c.1282G>C (p.Glu428Gln) | |
| X | g.53409259C>T | CA413255790 | SMC1A | c.1348G>A (p.Glu450Lys) c.580G>A (p.Glu194Lys) n.700G>A c.1282G>A (p.Glu428Lys) | |
| X | g.53409261_53409267del | CA1139667584 | SMC1A | c.1342_1348del (p.Ser448LysfsTer6) c.574_580del (p.Ser192LysfsTer6) n.694_700del c.1276_1282del (p.Ser426LysfsTer6) | ClinVar dbSNP |
| X | g.53409260T>A | CA516562013 | SMC1A | c.1347A>T (p.Leu449=) c.579A>T (p.Leu193=) n.699A>T c.1281A>T (p.Leu427=) | |
| X | g.53409260T>C | CA516562012 | SMC1A | c.1347A>G (p.Leu449=) c.579A>G (p.Leu193=) n.699A>G c.1281A>G (p.Leu427=) | |
| X | g.53409260T>G | CA10420560 | SMC1A | c.1347A>C (p.Leu449=) c.579A>C (p.Leu193=) n.699A>C c.1281A>C (p.Leu427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53409260T= | CA2429826635 | SMC1A | c.1347A= (p.Leu449=) c.579A= (p.Leu193=) n.699A= c.1281A= (p.Leu427=) | |
| X | g.53409261A>C | CA413255791 | SMC1A | c.1346T>G (p.Leu449Arg) c.578T>G (p.Leu193Arg) n.698T>G c.1280T>G (p.Leu427Arg) | |
| X | g.53409261A>G | CA413255792 | SMC1A | c.1346T>C (p.Leu449Pro) c.578T>C (p.Leu193Pro) n.698T>C c.1280T>C (p.Leu427Pro) | |
| X | g.53409261A>T | CA413255793 | SMC1A | c.1346T>A (p.Leu449Gln) c.578T>A (p.Leu193Gln) n.698T>A c.1280T>A (p.Leu427Gln) | |
| X | g.53409262G>A | CA516562014 | SMC1A | c.1345C>T (p.Leu449=) c.577C>T (p.Leu193=) n.697C>T c.1279C>T (p.Leu427=) | |
| X | g.53409262G>C | CA413255794 | SMC1A | c.1345C>G (p.Leu449Val) c.577C>G (p.Leu193Val) n.697C>G c.1279C>G (p.Leu427Val) | |
| X | g.53409262G>T | CA413255795 | SMC1A | c.1345C>A (p.Leu449Ile) c.577C>A (p.Leu193Ile) n.697C>A c.1279C>A (p.Leu427Ile) | |
| X | g.53409264del | CA2520785106 | SMC1A | c.1345del (p.Leu449Ter) c.577del (p.Leu193Ter) n.697del c.1279del (p.Leu427Ter) | |
| X | g.53409263G>A | CA516562015 | SMC1A | c.1344C>T (p.Ser448=) c.576C>T (p.Ser192=) n.696C>T c.1278C>T (p.Ser426=) | gnomAD v4 COSMIC |
| X | g.53409263G>C | CA516562017 | SMC1A | c.1344C>G (p.Ser448=) c.576C>G (p.Ser192=) n.696C>G c.1278C>G (p.Ser426=) | dbSNP |
| X | g.53409263G= | CA2429826640 | SMC1A | c.1344C= (p.Ser448=) c.576C= (p.Ser192=) n.696C= c.1278C= (p.Ser426=) | |
| X | g.53409263G>T | CA516562016 | SMC1A | c.1344C>A (p.Ser448=) c.576C>A (p.Ser192=) n.696C>A c.1278C>A (p.Ser426=) | |
| X | g.53409264G>A | CA413255796 | SMC1A | c.1343C>T (p.Ser448Phe) c.575C>T (p.Ser192Phe) n.695C>T c.1277C>T (p.Ser426Phe) | COSMIC |
| X | g.53409264G>C | CA413255797 | SMC1A | c.1343C>G (p.Ser448Cys) c.575C>G (p.Ser192Cys) n.695C>G c.1277C>G (p.Ser426Cys) | |
| X | g.53409264G>T | CA413255798 | SMC1A | c.1343C>A (p.Ser448Tyr) c.575C>A (p.Ser192Tyr) n.695C>A c.1277C>A (p.Ser426Tyr) | |
| X | g.53409265A>C | CA413255799 | SMC1A | c.1342T>G (p.Ser448Ala) c.574T>G (p.Ser192Ala) n.694T>G c.1276T>G (p.Ser426Ala) | |
| X | g.53409265A>G | CA413255801 | SMC1A | c.1342T>C (p.Ser448Pro) c.574T>C (p.Ser192Pro) n.694T>C c.1276T>C (p.Ser426Pro) | |
| X | g.53409265A>T | CA413255800 | SMC1A | c.1342T>A (p.Ser448Thr) c.574T>A (p.Ser192Thr) n.694T>A c.1276T>A (p.Ser426Thr) | |
| X | g.53409266C>A | CA413255802 | SMC1A | c.1341G>T (p.Gln447His) c.573G>T (p.Gln191His) n.693G>T c.1275G>T (p.Gln425His) | gnomAD v4 |
| X | g.53409266C>G | CA413255803 | SMC1A | c.1341G>C (p.Gln447His) c.573G>C (p.Gln191His) n.693G>C c.1275G>C (p.Gln425His) | |
| X | g.53409266C>T | CA516562018 | SMC1A | c.1341G>A (p.Gln447=) c.573G>A (p.Gln191=) n.693G>A c.1275G>A (p.Gln425=) | |
| X | g.53409267T>A | CA413255804 | SMC1A | c.1340A>T (p.Gln447Leu) c.572A>T (p.Gln191Leu) n.692A>T c.1274A>T (p.Gln425Leu) | |
| X | g.53409267T>C | CA413255805 | SMC1A | c.1340A>G (p.Gln447Arg) c.572A>G (p.Gln191Arg) n.692A>G c.1274A>G (p.Gln425Arg) | |
| X | g.53409267T>G | CA413255806 | SMC1A | c.1340A>C (p.Gln447Pro) c.572A>C (p.Gln191Pro) n.692A>C c.1274A>C (p.Gln425Pro) | |
| X | g.53409268G>A | CA413255807 | SMC1A | c.1339C>T (p.Gln447Ter) c.571C>T (p.Gln191Ter) n.691C>T c.1273C>T (p.Gln425Ter) | |
| X | g.53409268G>C | CA413255808 | SMC1A | c.1339C>G (p.Gln447Glu) c.571C>G (p.Gln191Glu) n.691C>G c.1273C>G (p.Gln425Glu) | |
| X | g.53409268G>T | CA413255809 | SMC1A | c.1339C>A (p.Gln447Lys) c.571C>A (p.Gln191Lys) n.691C>A c.1273C>A (p.Gln425Lys) | |
| X | g.53409269C>A | CA413255810 | SMC1A | c.1338G>T (p.Lys446Asn) c.570G>T (p.Lys190Asn) n.690G>T c.1272G>T (p.Lys424Asn) | |
| X | g.53409269C>G | CA413255811 | SMC1A | c.1338G>C (p.Lys446Asn) c.570G>C (p.Lys190Asn) n.690G>C c.1272G>C (p.Lys424Asn) | |
| X | g.53409269C>T | CA516562019 | SMC1A | c.1338G>A (p.Lys446=) c.570G>A (p.Lys190=) n.690G>A c.1272G>A (p.Lys424=) | |
| X | g.53409270C>A | CA413255812 | SMC1A | c.1338-1G>T (n.1338-1G>T) c.570-1G>T (n.570-1G>T) n.690-1G>T c.1272-1G>T (n.1272-1G>T) | |
| X | g.53409270C>G | CA413255813 | SMC1A | c.1338-1G>C (n.1338-1G>C) c.570-1G>C (n.570-1G>C) n.690-1G>C c.1272-1G>C (n.1272-1G>C) | |
| X | g.53409270C>T | CA413255814 | SMC1A | c.1338-1G>A (n.1338-1G>A) c.570-1G>A (n.570-1G>A) n.690-1G>A c.1272-1G>A (n.1272-1G>A) | |
| X | g.53409271T>A | CA413255817 | SMC1A | c.1338-2A>T (n.1338-2A>T) c.570-2A>T (n.570-2A>T) n.690-2A>T c.1272-2A>T (n.1272-2A>T) | |
| X | g.53409271T>C | CA413255816 | SMC1A | c.1338-2A>G (n.1338-2A>G) c.570-2A>G (n.570-2A>G) n.690-2A>G c.1272-2A>G (n.1272-2A>G) | |
| X | g.53409271T>G | CA413255815 | SMC1A | c.1338-2A>C (n.1338-2A>C) c.570-2A>C (n.570-2A>C) n.690-2A>C c.1272-2A>C (n.1272-2A>C) | |
| X | g.53409273C>A | CA2693805410 | SMC1A | c.1338-4G>T (n.1338-4G>T) c.570-4G>T (n.570-4G>T) n.690-4G>T c.1272-4G>T (n.1272-4G>T) | gnomAD v4 |
| X | g.53409273C>G | CA2580101214 | SMC1A | c.1338-4G>C (n.1338-4G>C) c.570-4G>C (n.570-4G>C) n.690-4G>C c.1272-4G>C (n.1272-4G>C) | ClinVar gnomAD v4 |
| X | g.53409273C>T | CA2499226792 | SMC1A | c.1338-4G>A (n.1338-4G>A) c.570-4G>A (n.570-4G>A) n.690-4G>A c.1272-4G>A (n.1272-4G>A) | ClinVar dbSNP |
| X | g.53409277G>A | CA2693805411 | SMC1A | c.1338-8C>T (n.1338-8C>T) c.570-8C>T (n.570-8C>T) n.690-8C>T c.1272-8C>T (n.1272-8C>T) | gnomAD v4 |
| X | g.53409277G>C | CA2820947415 | SMC1A | c.1338-8C>G (n.1338-8C>G) c.570-8C>G (n.570-8C>G) n.690-8C>G c.1272-8C>G (n.1272-8C>G) | |
| X | g.53409277G>T | CA2693805412 | SMC1A | c.1338-8C>A (n.1338-8C>A) c.570-8C>A (n.570-8C>A) n.690-8C>A c.1272-8C>A (n.1272-8C>A) | gnomAD v4 |
| X | g.53409278T>C | CA2429826645 | SMC1A | c.1338-9A>G (n.1338-9A>G) c.570-9A>G (n.570-9A>G) n.690-9A>G c.1272-9A>G (n.1272-9A>G) | dbSNP |
| X | g.53409278T= | CA2429826644 | SMC1A | c.1338-9A= (n.1338-9A=) c.570-9A= (n.570-9A=) n.690-9A= c.1272-9A= (n.1272-9A=) | |
| X | g.53409279G>A | CA2693805413 | SMC1A | c.1338-10C>T (n.1338-10C>T) c.570-10C>T (n.570-10C>T) n.690-10C>T c.1272-10C>T (n.1272-10C>T) | gnomAD v4 |
| X | g.53409280A= | CA2429826650 | SMC1A | c.1338-11T= (n.1338-11T=) c.570-11T= (n.570-11T=) n.690-11T= c.1272-11T= (n.1272-11T=) | |
| X | g.53409280A>T | CA641897369 | SMC1A | c.1338-11T>A (n.1338-11T>A) c.570-11T>A (n.570-11T>A) n.690-11T>A c.1272-11T>A (n.1272-11T>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53409280_53409281delinsAG | CA2429826648 | SMC1A | c.1338-12_1338-11delinsCT (n.1338-12_1338-11delinsCT) c.570-12_570-11delinsCT (n.570-12_570-11delinsCT) n.690-12_690-11delinsCT c.1272-12_1272-11delinsCT (n.1272-12_1272-11delinsCT) | |
| X | g.53409281G>A | CA2429826653 | SMC1A | c.1338-12C>T (n.1338-12C>T) c.570-12C>T (n.570-12C>T) n.690-12C>T c.1272-12C>T (n.1272-12C>T) | dbSNP gnomAD v4 |
| X | g.53409281G>C | CA2580101215 | SMC1A | c.1338-12C>G (n.1338-12C>G) c.570-12C>G (n.570-12C>G) n.690-12C>G c.1272-12C>G (n.1272-12C>G) | ClinVar |
| X | g.53409281G= | CA2429826652 | SMC1A | c.1338-12C= (n.1338-12C=) c.570-12C= (n.570-12C=) n.690-12C= c.1272-12C= (n.1272-12C=) | |
| X | g.53409283del | CA10420561 | SMC1A | c.1338-12del (n.1338-12del) c.570-12del (n.570-12del) n.690-12del c.1272-12del (n.1272-12del) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.53409282G>A | CA641897373 | SMC1A | c.1338-13C>T (n.1338-13C>T) c.570-13C>T (n.570-13C>T) n.690-13C>T c.1272-13C>T (n.1272-13C>T) | dbSNP gnomAD v2 |
| X | g.53409282G= | CA2429826657 | SMC1A | c.1338-13C= (n.1338-13C=) c.570-13C= (n.570-13C=) n.690-13C= c.1272-13C= (n.1272-13C=) | |
| X | g.53409283G>T | CA2693805414 | SMC1A | c.1338-14C>A (n.1338-14C>A) c.570-14C>A (n.570-14C>A) n.690-14C>A c.1272-14C>A (n.1272-14C>A) | gnomAD v4 |
| X | g.53409284C>A | CA1133179703 | SMC1A | c.1338-15G>T (n.1338-15G>T) c.570-15G>T (n.570-15G>T) n.690-15G>T c.1272-15G>T (n.1272-15G>T) | gnomAD v3 gnomAD v4 |
| X | g.53409286C= | CA2429826659 | SMC1A | c.1338-17G= (n.1338-17G=) c.570-17G= (n.570-17G=) n.690-17G= c.1272-17G= (n.1272-17G=) | |
| X | g.53409286C>T | CA641897375 | SMC1A | c.1338-17G>A (n.1338-17G>A) c.570-17G>A (n.570-17G>A) n.690-17G>A c.1272-17G>A (n.1272-17G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53409288C= | CA2429826660 | SMC1A | c.1338-19G= (n.1338-19G=) c.570-19G= (n.570-19G=) n.690-19G= c.1272-19G= (n.1272-19G=) | |
| X | g.53409288C>T | CA2429826661 | SMC1A | c.1338-19G>A (n.1338-19G>A) c.570-19G>A (n.570-19G>A) n.690-19G>A c.1272-19G>A (n.1272-19G>A) | dbSNP |
| X | g.53409291G>A | CA876286277 | SMC1A | c.1338-22C>T (n.1338-22C>T) c.570-22C>T (n.570-22C>T) n.690-22C>T c.1272-22C>T (n.1272-22C>T) | dbSNP |
| X | g.53409291G= | CA2429826663 | SMC1A | c.1338-22C= (n.1338-22C=) c.570-22C= (n.570-22C=) n.690-22C= c.1272-22C= (n.1272-22C=) | |
| X | g.53409293G>A | CA10420562 | SMC1A | c.1338-24C>T (n.1338-24C>T) c.570-24C>T (n.570-24C>T) n.690-24C>T c.1272-24C>T (n.1272-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53409293G= | CA2429826665 | SMC1A | c.1338-24C= (n.1338-24C=) c.570-24C= (n.570-24C=) n.690-24C= c.1272-24C= (n.1272-24C=) | |
| X | g.53409295T>A | CA2579615846 | SMC1A | c.1338-26A>T (n.1338-26A>T) c.570-26A>T (n.570-26A>T) n.690-26A>T c.1272-26A>T (n.1272-26A>T) | gnomAD v4 |
| X | g.53409295T>C | CA658018923 | SMC1A | c.1338-26A>G (n.1338-26A>G) c.570-26A>G (n.570-26A>G) n.690-26A>G c.1272-26A>G (n.1272-26A>G) | COSMIC |
| X | g.53409296A>C | CA2520899148 | SMC1A | c.1338-27T>G (n.1338-27T>G) c.570-27T>G (n.570-27T>G) n.690-27T>G c.1272-27T>G (n.1272-27T>G) | |
| X | g.53409296A>T | CA2693805415 | SMC1A | c.1338-27T>A (n.1338-27T>A) c.570-27T>A (n.570-27T>A) n.690-27T>A c.1272-27T>A (n.1272-27T>A) | gnomAD v4 |
| X | g.53409297C>A | CA2693805416 | SMC1A | c.1338-28G>T (n.1338-28G>T) c.570-28G>T (n.570-28G>T) n.690-28G>T c.1272-28G>T (n.1272-28G>T) | gnomAD v4 |
| X | g.53409297C= | CA2429826666 | SMC1A | c.1338-28G= (n.1338-28G=) c.570-28G= (n.570-28G=) n.690-28G= c.1272-28G= (n.1272-28G=) | |
| X | g.53409297C>T | CA876286278 | SMC1A | c.1338-28G>A (n.1338-28G>A) c.570-28G>A (n.570-28G>A) n.690-28G>A c.1272-28G>A (n.1272-28G>A) | dbSNP |
| X | g.53409298T>G | CA641897379 | SMC1A | c.1338-29A>C (n.1338-29A>C) c.570-29A>C (n.570-29A>C) n.690-29A>C c.1272-29A>C (n.1272-29A>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53409298T= | CA2429826667 | SMC1A | c.1338-29A= (n.1338-29A=) c.570-29A= (n.570-29A=) n.690-29A= c.1272-29A= (n.1272-29A=) | |
| X | g.53409299C>A | CA10420563 | SMC1A | c.1338-30G>T (n.1338-30G>T) c.570-30G>T (n.570-30G>T) n.690-30G>T c.1272-30G>T (n.1272-30G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53409299C= | CA2429826668 | SMC1A | c.1338-30G= (n.1338-30G=) c.570-30G= (n.570-30G=) n.690-30G= c.1272-30G= (n.1272-30G=) | |
| X | g.53409300C>A | CA2579615847 | SMC1A | c.1338-31G>T (n.1338-31G>T) c.570-31G>T (n.570-31G>T) n.690-31G>T c.1272-31G>T (n.1272-31G>T) | |
| X | g.53409300C>T | CA2552394179 | SMC1A | c.1338-31G>A (n.1338-31G>A) c.570-31G>A (n.570-31G>A) n.690-31G>A c.1272-31G>A (n.1272-31G>A) | |
| X | g.53409301T>A | CA2429826671 | SMC1A | c.1338-32A>T (n.1338-32A>T) c.570-32A>T (n.570-32A>T) n.690-32A>T c.1272-32A>T (n.1272-32A>T) | dbSNP |
| X | g.53409301T>C | CA329907447 | SMC1A | c.1338-32A>G (n.1338-32A>G) c.570-32A>G (n.570-32A>G) n.690-32A>G c.1272-32A>G (n.1272-32A>G) | dbSNP gnomAD v4 |
| X | g.53409301T>G | CA329907448 | SMC1A | c.1338-32A>C (n.1338-32A>C) c.570-32A>C (n.570-32A>C) n.690-32A>C c.1272-32A>C (n.1272-32A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53409301T= | CA10420564 | SMC1A | c.1338-32A= (n.1338-32A=) c.570-32A= (n.570-32A=) n.690-32A= c.1272-32A= (n.1272-32A=) | |
| X | g.53409302G>A | CA2579615848 | SMC1A | c.1338-33C>T (n.1338-33C>T) c.570-33C>T (n.570-33C>T) n.690-33C>T c.1272-33C>T (n.1272-33C>T) | gnomAD v4 |