Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885987_56887036del | CA915949274 | SLC12A3 | c.1926-377_2121del c.1923-377_2118del | ClinVar |
16 | g.56886445C>A | CA495605108 | SLC12A3 | c.2007C>A (p.Leu669=) c.2004C>A (p.Leu668=) | |
16 | g.56886445C= | CA2224357230 | SLC12A3 | c.2007C= (p.Leu669=) c.2004C= (p.Leu668=) | |
16 | g.56886445C>G | CA495605109 | SLC12A3 | c.2007C>G (p.Leu669=) c.2004C>G (p.Leu668=) | |
16 | g.56886445C>T | CA495605111 | SLC12A3 | c.2007C>T (p.Leu669=) c.2004C>T (p.Leu668=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886446A= | CA2224357231 | SLC12A3 | c.2008A= (p.Ser670=) c.2005A= (p.Ser669=) | |
16 | g.56886446A>C | CA395993267 | SLC12A3 | c.2008A>C (p.Ser670Arg) c.2005A>C (p.Ser669Arg) | |
16 | g.56886446A>G | CA8069685 | SLC12A3 | c.2008A>G (p.Ser670Gly) c.2005A>G (p.Ser669Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886446A>T | CA395993263 | SLC12A3 | c.2008A>T (p.Ser670Cys) c.2005A>T (p.Ser669Cys) | |
16 | g.56886447G>A | CA395993271 | SLC12A3 | c.2009G>A (p.Ser670Asn) c.2006G>A (p.Ser669Asn) | |
16 | g.56886447G>C | CA395993273 | SLC12A3 | c.2009G>C (p.Ser670Thr) c.2006G>C (p.Ser669Thr) | |
16 | g.56886447G>T | CA395993275 | SLC12A3 | c.2009G>T (p.Ser670Ile) c.2006G>T (p.Ser669Ile) | |
16 | g.56886448C>A | CA395993279 | SLC12A3 | c.2010C>A (p.Ser670Arg) c.2007C>A (p.Ser669Arg) | |
16 | g.56886448C>G | CA395993282 | SLC12A3 | c.2010C>G (p.Ser670Arg) c.2007C>G (p.Ser669Arg) | |
16 | g.56886448C>T | CA495605119 | SLC12A3 | c.2010C>T (p.Ser670=) c.2007C>T (p.Ser669=) | |
16 | g.56886449C>A | CA395993286 | SLC12A3 | c.2011C>A (p.Leu671Met) c.2008C>A (p.Leu670Met) | |
16 | g.56886449C>G | CA395993289 | SLC12A3 | c.2011C>G (p.Leu671Val) c.2008C>G (p.Leu670Val) | |
16 | g.56886449C>T | CA495605122 | SLC12A3 | c.2011C>T (p.Leu671=) c.2008C>T (p.Leu670=) | ClinVar dbSNP gnomAD v4 |
16 | g.56886450T>A | CA395993293 | SLC12A3 | c.2012T>A (p.Leu671Gln) c.2009T>A (p.Leu670Gln) | |
16 | g.56886450T>C | CA395993297 | SLC12A3 | c.2012T>C (p.Leu671Pro) c.2009T>C (p.Leu670Pro) | |
16 | g.56886450T>G | CA395993299 | SLC12A3 | c.2012T>G (p.Leu671Arg) c.2009T>G (p.Leu670Arg) | |
16 | g.56886451G>A | CA495605130 | SLC12A3 | c.2013G>A (p.Leu671=) c.2010G>A (p.Leu670=) | |
16 | g.56886451G>C | CA495605126 | SLC12A3 | c.2013G>C (p.Leu671=) c.2010G>C (p.Leu670=) | |
16 | g.56886451G>T | CA495605128 | SLC12A3 | c.2013G>T (p.Leu671=) c.2010G>T (p.Leu670=) | |
16 | g.56886452A>C | CA395993308 | SLC12A3 | c.2014A>C (p.Met672Leu) c.2011A>C (p.Met671Leu) | |
16 | g.56886452A>G | CA395993302 | SLC12A3 | c.2014A>G (p.Met672Val) c.2011A>G (p.Met671Val) | |
16 | g.56886452A>T | CA395993305 | SLC12A3 | c.2014A>T (p.Met672Leu) c.2011A>T (p.Met671Leu) | |
16 | g.56886453T>A | CA395993312 | SLC12A3 | c.2015T>A (p.Met672Lys) c.2012T>A (p.Met671Lys) | gnomAD v4 |
16 | g.56886453T>C | CA395993314 | SLC12A3 | c.2015T>C (p.Met672Thr) c.2012T>C (p.Met671Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886453T>G | CA395993321 | SLC12A3 | c.2015T>G (p.Met672Arg) c.2012T>G (p.Met671Arg) | |
16 | g.56886453T= | CA2224357232 | SLC12A3 | c.2015T= (p.Met672=) c.2012T= (p.Met671=) | |
16 | g.56886454G>A | CA395993325 | SLC12A3 | c.2016G>A (p.Met672Ile) c.2013G>A (p.Met671Ile) | |
16 | g.56886454G>C | CA395993327 | SLC12A3 | c.2016G>C (p.Met672Ile) c.2013G>C (p.Met671Ile) | gnomAD v4 |
16 | g.56886454G>T | CA395993330 | SLC12A3 | c.2016G>T (p.Met672Ile) c.2013G>T (p.Met671Ile) | |
16 | g.56886455A>C | CA395993333 | SLC12A3 | c.2017A>C (p.Ile673Leu) c.2014A>C (p.Ile672Leu) | |
16 | g.56886455A>G | CA395993335 | SLC12A3 | c.2017A>G (p.Ile673Val) c.2014A>G (p.Ile672Val) | |
16 | g.56886455A>T | CA395993336 | SLC12A3 | c.2017A>T (p.Ile673Phe) c.2014A>T (p.Ile672Phe) | |
16 | g.56886456T>A | CA395993340 | SLC12A3 | c.2018T>A (p.Ile673Asn) c.2015T>A (p.Ile672Asn) | |
16 | g.56886456T>C | CA395993342 | SLC12A3 | c.2018T>C (p.Ile673Thr) c.2015T>C (p.Ile672Thr) | gnomAD v4 |
16 | g.56886456T>G | CA395993343 | SLC12A3 | c.2018T>G (p.Ile673Ser) c.2015T>G (p.Ile672Ser) | COSMIC |
16 | g.56886457C>A | CA495605140 | SLC12A3 | c.2019C>A (p.Ile673=) c.2016C>A (p.Ile672=) | dbSNP COSMIC |
16 | g.56886457C= | CA2224357233 | SLC12A3 | c.2019C= (p.Ile673=) c.2016C= (p.Ile672=) | |
16 | g.56886457C>G | CA395993348 | SLC12A3 | c.2019C>G (p.Ile673Met) c.2016C>G (p.Ile672Met) | |
16 | g.56886457C>T | CA8069686 | SLC12A3 | c.2019C>T (p.Ile673=) c.2016C>T (p.Ile672=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886458T>A | CA395993351 | SLC12A3 | c.2020T>A (p.Cys674Ser) c.2017T>A (p.Cys673Ser) | |
16 | g.56886458T>C | CA395993355 | SLC12A3 | c.2020T>C (p.Cys674Arg) c.2017T>C (p.Cys673Arg) | |
16 | g.56886458T>G | CA395993352 | SLC12A3 | c.2020T>G (p.Cys674Gly) c.2017T>G (p.Cys673Gly) | |
16 | g.56886459G>A | CA395993357 | SLC12A3 | c.2021G>A (p.Cys674Tyr) c.2018G>A (p.Cys673Tyr) | |
16 | g.56886459G>C | CA395993359 | SLC12A3 | c.2021G>C (p.Cys674Ser) c.2018G>C (p.Cys673Ser) | |
16 | g.56886459G>T | CA395993361 | SLC12A3 | c.2021G>T (p.Cys674Phe) c.2018G>T (p.Cys673Phe) | |
16 | g.56886460T>A | CA395993363 | SLC12A3 | c.2022T>A (p.Cys674Ter) c.2019T>A (p.Cys673Ter) | |
16 | g.56886460T>C | CA495605148 | SLC12A3 | c.2022T>C (p.Cys674=) c.2019T>C (p.Cys673=) | |
16 | g.56886460T>G | CA395993365 | SLC12A3 | c.2022T>G (p.Cys674Trp) c.2019T>G (p.Cys673Trp) | |
16 | g.56886461G>A | CA395993367 | SLC12A3 | c.2023G>A (p.Gly675Ser) c.2020G>A (p.Gly674Ser) | |
16 | g.56886461G>C | CA395993370 | SLC12A3 | c.2023G>C (p.Gly675Arg) c.2020G>C (p.Gly674Arg) | |
16 | g.56886461G>T | CA395993372 | SLC12A3 | c.2023G>T (p.Gly675Cys) c.2020G>T (p.Gly674Cys) | |
16 | g.56886462G>A | CA395993374 | SLC12A3 | c.2024G>A (p.Gly675Asp) c.2021G>A (p.Gly674Asp) | ClinVar |
16 | g.56886462G>C | CA395993375 | SLC12A3 | c.2024G>C (p.Gly675Ala) c.2021G>C (p.Gly674Ala) | |
16 | g.56886462G= | CA2224357234 | SLC12A3 | c.2024G= (p.Gly675=) c.2021G= (p.Gly674=) | |
16 | g.56886462G>T | CA395993376 | SLC12A3 | c.2024G>T (p.Gly675Val) c.2021G>T (p.Gly674Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886463C>A | CA495605155 | SLC12A3 | c.2025C>A (p.Gly675=) c.2022C>A (p.Gly674=) | ClinVar |
16 | g.56886463C= | CA2224357235 | SLC12A3 | c.2025C= (p.Gly675=) c.2022C= (p.Gly674=) | |
16 | g.56886463C>G | CA495605157 | SLC12A3 | c.2025C>G (p.Gly675=) c.2022C>G (p.Gly674=) | ClinVar dbSNP |
16 | g.56886463C>T | CA495605156 | SLC12A3 | c.2025C>T (p.Gly675=) c.2022C>T (p.Gly674=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886464C>A | CA395993381 | SLC12A3 | c.2026C>A (p.His676Asn) c.2023C>A (p.His675Asn) | |
16 | g.56886464C= | CA2224357236 | SLC12A3 | c.2026C= (p.His676=) c.2023C= (p.His675=) | |
16 | g.56886464C>G | CA395993380 | SLC12A3 | c.2026C>G (p.His676Asp) c.2023C>G (p.His675Asp) | |
16 | g.56886464C>T | CA395993378 | SLC12A3 | c.2026C>T (p.His676Tyr) c.2023C>T (p.His675Tyr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886465A>C | CA395993385 | SLC12A3 | c.2027A>C (p.His676Pro) c.2024A>C (p.His675Pro) | |
16 | g.56886465A>G | CA395993386 | SLC12A3 | c.2027A>G (p.His676Arg) c.2024A>G (p.His675Arg) | |
16 | g.56886465A>T | CA395993388 | SLC12A3 | c.2027A>T (p.His676Leu) c.2024A>T (p.His675Leu) | |
16 | g.56886466C>A | CA395993391 | SLC12A3 | c.2028C>A (p.His676Gln) c.2025C>A (p.His675Gln) | |
16 | g.56886466C= | CA2224357237 | SLC12A3 | c.2028C= (p.His676=) c.2025C= (p.His675=) | |
16 | g.56886466C>G | CA8069688 | SLC12A3 | c.2028C>G (p.His676Gln) c.2025C>G (p.His675Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886466C>T | CA8069687 | SLC12A3 | c.2028C>T (p.His676=) c.2025C>T (p.His675=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886467G>A | CA8069689 | SLC12A3 | c.2029G>A (p.Val677Met) c.2026G>A (p.Val676Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886467G>C | CA395993396 | SLC12A3 | c.2029G>C (p.Val677Leu) c.2026G>C (p.Val676Leu) | |
16 | g.56886467G= | CA2224357238 | SLC12A3 | c.2029G= (p.Val677=) c.2026G= (p.Val676=) | |
16 | g.56886467G>T | CA395993397 | SLC12A3 | c.2029G>T (p.Val677Leu) c.2026G>T (p.Val676Leu) | gnomAD v4 |
16 | g.56886468T>A | CA395993398 | SLC12A3 | c.2030T>A (p.Val677Glu) c.2027T>A (p.Val676Glu) | |
16 | g.56886468T>C | CA395993399 | SLC12A3 | c.2030T>C (p.Val677Ala) c.2027T>C (p.Val676Ala) | |
16 | g.56886468T>G | CA395993402 | SLC12A3 | c.2030T>G (p.Val677Gly) c.2027T>G (p.Val676Gly) | ClinVar dbSNP |
16 | g.56886468T= | CA2224357239 | SLC12A3 | c.2030T= (p.Val677=) c.2027T= (p.Val676=) | |
16 | g.56886469G>A | CA495605169 | SLC12A3 | c.2031G>A (p.Val677=) c.2028G>A (p.Val676=) | |
16 | g.56886469G>C | CA495605170 | SLC12A3 | c.2031G>C (p.Val677=) c.2028G>C (p.Val676=) | |
16 | g.56886469G>T | CA495605172 | SLC12A3 | c.2031G>T (p.Val677=) c.2028G>T (p.Val676=) | gnomAD v4 |
16 | g.56886470C>A | CA395993409 | SLC12A3 | c.2032C>A (p.Leu678Ile) c.2029C>A (p.Leu677Ile) | |
16 | g.56886470C>G | CA395993407 | SLC12A3 | c.2032C>G (p.Leu678Val) c.2029C>G (p.Leu677Val) | |
16 | g.56886470C>T | CA395993404 | SLC12A3 | c.2032C>T (p.Leu678Phe) c.2029C>T (p.Leu677Phe) | |
16 | g.56886471T>A | CA395993410 | SLC12A3 | c.2033T>A (p.Leu678His) c.2030T>A (p.Leu677His) | |
16 | g.56886471T>C | CA395993412 | SLC12A3 | c.2033T>C (p.Leu678Pro) c.2030T>C (p.Leu677Pro) | |
16 | g.56886471T>G | CA395993411 | SLC12A3 | c.2033T>G (p.Leu678Arg) c.2030T>G (p.Leu677Arg) | |
16 | g.56886472C>A | CA495605180 | SLC12A3 | c.2034C>A (p.Leu678=) c.2031C>A (p.Leu677=) | |
16 | g.56886472C= | CA2224357240 | SLC12A3 | c.2034C= (p.Leu678=) c.2031C= (p.Leu677=) | |
16 | g.56886472C>G | CA495605178 | SLC12A3 | c.2034C>G (p.Leu678=) c.2031C>G (p.Leu677=) | |
16 | g.56886472C>T | CA8069690 | SLC12A3 | c.2034C>T (p.Leu678=) c.2031C>T (p.Leu677=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886473A>C | CA395993415 | SLC12A3 | c.2035A>C (p.Ile679Leu) c.2032A>C (p.Ile678Leu) | |
16 | g.56886473A>G | CA395993413 | SLC12A3 | c.2035A>G (p.Ile679Val) c.2032A>G (p.Ile678Val) | gnomAD v4 |
16 | g.56886473A>T | CA395993414 | SLC12A3 | c.2035A>T (p.Ile679Phe) c.2032A>T (p.Ile678Phe) | |
16 | g.56886474T>A | CA395993416 | SLC12A3 | c.2036T>A (p.Ile679Asn) c.2033T>A (p.Ile678Asn) | |
16 | g.56886474T>C | CA395993417 | SLC12A3 | c.2036T>C (p.Ile679Thr) c.2033T>C (p.Ile678Thr) | |
16 | g.56886474T>G | CA395993418 | SLC12A3 | c.2036T>G (p.Ile679Ser) c.2033T>G (p.Ile678Ser) | |
16 | g.56886475C>A | CA8069692 | SLC12A3 | c.2037C>A (p.Ile679=) c.2034C>A (p.Ile678=) | dbSNP ExAC gnomAD v2 |
16 | g.56886475C= | CA2224357241 | SLC12A3 | c.2037C= (p.Ile679=) c.2034C= (p.Ile678=) | |
16 | g.56886475C>G | CA395993419 | SLC12A3 | c.2037C>G (p.Ile679Met) c.2034C>G (p.Ile678Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886475C>T | CA8069691 | SLC12A3 | c.2037C>T (p.Ile679=) c.2034C>T (p.Ile678=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886476G>A | CA8069693 | SLC12A3 | c.2037+1G>A (n.2037+1G>A) c.2034+1G>A (n.2034+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886476G>C | CA395993420 | SLC12A3 | c.2037+1G>C (n.2037+1G>C) c.2034+1G>C (n.2034+1G>C) | |
16 | g.56886476G= | CA2224357242 | SLC12A3 | c.2037+1G= (n.2037+1G=) c.2034+1G= (n.2034+1G=) | |
16 | g.56886476G>T | CA395993421 | SLC12A3 | c.2037+1G>T (n.2037+1G>T) c.2034+1G>T (n.2034+1G>T) | |
16 | g.56886477T>A | CA395993424 | SLC12A3 | c.2037+2T>A (n.2037+2T>A) c.2034+2T>A (n.2034+2T>A) | |
16 | g.56886477T>C | CA395993423 | SLC12A3 | c.2037+2T>C (n.2037+2T>C) c.2034+2T>C (n.2034+2T>C) | |
16 | g.56886477T>G | CA395993422 | SLC12A3 | c.2037+2T>G (n.2037+2T>G) c.2034+2T>G (n.2034+2T>G) | |
16 | g.56886477_56886489delinsTGAGTGGCCCCTG | CA2224357243 | SLC12A3 | c.2037+2_2037+14delinsTGAGTGGCCCCTG (n.2037+2_2037+14delinsTGAGTGGCCCCTG) c.2034+2_2034+14delinsTGAGTGGCCCCTG (n.2034+2_2034+14delinsTGAGTGGCCCCTG) | |
16 | g.56886481_56886492del | CA2224357244 | SLC12A3 | c.2037+6_2037+17del (n.2037+6_2037+17del) c.2034+6_2034+17del (n.2034+6_2034+17del) | dbSNP |
16 | g.56886479A= | CA2224357245 | SLC12A3 | c.2037+4A= (n.2037+4A=) c.2034+4A= (n.2034+4A=) | |
16 | g.56886479A>G | CA8069694 | SLC12A3 | c.2037+4A>G (n.2037+4A>G) c.2034+4A>G (n.2034+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886480G>A | CA2633374492 | SLC12A3 | c.2037+5G>A (n.2037+5G>A) c.2034+5G>A (n.2034+5G>A) | gnomAD v4 |
16 | g.56886481T>G | CA2633374493 | SLC12A3 | c.2037+6T>G (n.2037+6T>G) c.2034+6T>G (n.2034+6T>G) | gnomAD v4 |
16 | g.56886482G>A | CA2576001840 | SLC12A3 | c.2037+7G>A (n.2037+7G>A) c.2034+7G>A (n.2034+7G>A) | ClinVar gnomAD v4 |
16 | g.56886483G>A | CA622338404 | SLC12A3 | c.2037+8G>A (n.2037+8G>A) c.2034+8G>A (n.2034+8G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886483G= | CA2224357246 | SLC12A3 | c.2037+8G= (n.2037+8G=) c.2034+8G= (n.2034+8G=) | |
16 | g.56886484C>A | CA2576001842 | SLC12A3 | c.2037+9C>A (n.2037+9C>A) c.2034+9C>A (n.2034+9C>A) | gnomAD v4 |
16 | g.56886484C= | CA2224357247 | SLC12A3 | c.2037+9C= (n.2037+9C=) c.2034+9C= (n.2034+9C=) | |
16 | g.56886484C>T | CA8069695 | SLC12A3 | c.2037+9C>T (n.2037+9C>T) c.2034+9C>T (n.2034+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886487del | CA2633374495 | SLC12A3 | c.2037+12del (n.2037+12del) c.2034+12del (n.2034+12del) | gnomAD v4 |
16 | g.56886485C>A | CA2576001843 | SLC12A3 | c.2037+10C>A (n.2037+10C>A) c.2034+10C>A (n.2034+10C>A) | gnomAD v4 |
16 | g.56886485C= | CA2224357248 | SLC12A3 | c.2037+10C= (n.2037+10C=) c.2034+10C= (n.2034+10C=) | |
16 | g.56886485C>T | CA8069696 | SLC12A3 | c.2037+10C>T (n.2037+10C>T) c.2034+10C>T (n.2034+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886486C>A | CA2633374499 | SLC12A3 | c.2037+11C>A (n.2037+11C>A) c.2034+11C>A (n.2034+11C>A) | gnomAD v4 |
16 | g.56886486C>G | CA2576001844 | SLC12A3 | c.2037+11C>G (n.2037+11C>G) c.2034+11C>G (n.2034+11C>G) | ClinVar |
16 | g.56886486C>T | CA2576001845 | SLC12A3 | c.2037+11C>T (n.2037+11C>T) c.2034+11C>T (n.2034+11C>T) | ClinVar gnomAD v4 |
16 | g.56886487C>A | CA8069697 | SLC12A3 | c.2037+12C>A (n.2037+12C>A) c.2034+12C>A (n.2034+12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886487C= | CA2224357250 | SLC12A3 | c.2037+12C= (n.2037+12C=) c.2034+12C= (n.2034+12C=) | |
16 | g.56886487C>T | CA2224357249 | SLC12A3 | c.2037+12C>T (n.2037+12C>T) c.2034+12C>T (n.2034+12C>T) | dbSNP |
16 | g.56886489G>A | CA2224357252 | SLC12A3 | c.2037+14G>A (n.2037+14G>A) c.2034+14G>A (n.2034+14G>A) | ClinVar dbSNP |
16 | g.56886489G>C | CA2576001846 | SLC12A3 | c.2037+14G>C (n.2037+14G>C) c.2034+14G>C (n.2034+14G>C) | gnomAD v4 |
16 | g.56886489G= | CA2224357251 | SLC12A3 | c.2037+14G= (n.2037+14G=) c.2034+14G= (n.2034+14G=) | |
16 | g.56886490G>A | CA622338405 | SLC12A3 | c.2037+15G>A (n.2037+15G>A) c.2034+15G>A (n.2034+15G>A) | dbSNP gnomAD v2 |
16 | g.56886490G>C | CA2576001847 | SLC12A3 | c.2037+15G>C (n.2037+15G>C) c.2034+15G>C (n.2034+15G>C) | gnomAD v4 |
16 | g.56886490G= | CA2224357253 | SLC12A3 | c.2037+15G= (n.2037+15G=) c.2034+15G= (n.2034+15G=) | |
16 | g.56886492G>A | CA2633374504 | SLC12A3 | c.2037+17G>A (n.2037+17G>A) c.2034+17G>A (n.2034+17G>A) | gnomAD v4 |
16 | g.56886493G>A | CA2633374506 | SLC12A3 | c.2037+18G>A (n.2037+18G>A) c.2034+18G>A (n.2034+18G>A) | gnomAD v4 |
16 | g.56886493G>T | CA2633374508 | SLC12A3 | c.2037+18G>T (n.2037+18G>T) c.2034+18G>T (n.2034+18G>T) | gnomAD v4 |
16 | g.56886494G>A | CA2633374509 | SLC12A3 | c.2037+19G>A (n.2037+19G>A) c.2034+19G>A (n.2034+19G>A) | gnomAD v4 |
16 | g.56886495G>A | CA622338406 | SLC12A3 | c.2037+20G>A (n.2037+20G>A) c.2034+20G>A (n.2034+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886495G= | CA2224357254 | SLC12A3 | c.2037+20G= (n.2037+20G=) c.2034+20G= (n.2034+20G=) | |
16 | g.56886495G>T | CA8069698 | SLC12A3 | c.2037+20G>T (n.2037+20G>T) c.2034+20G>T (n.2034+20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886496C>A | CA8069699 | SLC12A3 | c.2037+21C>A (n.2037+21C>A) c.2034+21C>A (n.2034+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886496C= | CA2224357256 | SLC12A3 | c.2037+21C= (n.2037+21C=) c.2034+21C= (n.2034+21C=) | |
16 | g.56886496C>G | CA2224357255 | SLC12A3 | c.2037+21C>G (n.2037+21C>G) c.2034+21C>G (n.2034+21C>G) | dbSNP gnomAD v4 |
16 | g.56886496dup | CA2633374513 | SLC12A3 | c.2037+21dup (n.2037+21dup) c.2034+21dup (n.2034+21dup) | gnomAD v4 |
16 | g.56886498_56886499del | CA2576001848 | SLC12A3 | c.2037+23_2037+24del (n.2037+23_2037+24del) c.2034+23_2034+24del (n.2034+23_2034+24del) | |
16 | g.56886497del | CA2633374516 | SLC12A3 | c.2037+22del (n.2037+22del) c.2034+22del (n.2034+22del) | gnomAD v4 |
16 | g.56886497A= | CA2224357257 | SLC12A3 | c.2037+22A= (n.2037+22A=) c.2034+22A= (n.2034+22A=) | |
16 | g.56886497A>C | CA8069700 | SLC12A3 | c.2037+22A>C (n.2037+22A>C) c.2034+22A>C (n.2034+22A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886498C>A | CA2576001849 | SLC12A3 | c.2037+23C>A (n.2037+23C>A) c.2034+23C>A (n.2034+23C>A) | gnomAD v4 |
16 | g.56886498C= | CA2224357258 | SLC12A3 | c.2037+23C= (n.2037+23C=) c.2034+23C= (n.2034+23C=) | |
16 | g.56886498C>T | CA622338407 | SLC12A3 | c.2037+23C>T (n.2037+23C>T) c.2034+23C>T (n.2034+23C>T) | dbSNP gnomAD v2 |
16 | g.56886503del | CA2633374517 | SLC12A3 | c.2037+28del (n.2037+28del) c.2034+28del (n.2034+28del) | gnomAD v4 |
16 | g.56886501G>A | CA8069701 | SLC12A3 | c.2037+26G>A (n.2037+26G>A) c.2034+26G>A (n.2034+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886501G= | CA2224357259 | SLC12A3 | c.2037+26G= (n.2037+26G=) c.2034+26G= (n.2034+26G=) | |
16 | g.56886501G>T | CA622338408 | SLC12A3 | c.2037+26G>T (n.2037+26G>T) c.2034+26G>T (n.2034+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886502G>A | CA2633374519 | SLC12A3 | c.2037+27G>A (n.2037+27G>A) c.2034+27G>A (n.2034+27G>A) | gnomAD v4 |
16 | g.56886503G>A | CA2576001850 | SLC12A3 | c.2037+28G>A (n.2037+28G>A) c.2034+28G>A (n.2034+28G>A) | |
16 | g.56886503G>T | CA2633374521 | SLC12A3 | c.2037+28G>T (n.2037+28G>T) c.2034+28G>T (n.2034+28G>T) | gnomAD v4 |
16 | g.56886504A= | CA2224357260 | SLC12A3 | c.2037+29A= (n.2037+29A=) c.2034+29A= (n.2034+29A=) | |
16 | g.56886504A>T | CA8069702 | SLC12A3 | c.2037+29A>T (n.2037+29A>T) c.2034+29A>T (n.2034+29A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886505C>A | CA2576001852 | SLC12A3 | c.2037+30C>A (n.2037+30C>A) c.2034+30C>A (n.2034+30C>A) | |
16 | g.56886505C>T | CA2633374522 | SLC12A3 | c.2037+30C>T (n.2037+30C>T) c.2034+30C>T (n.2034+30C>T) | gnomAD v4 |
16 | g.56886506del | CA2576001851 | SLC12A3 | c.2037+31del (n.2037+31del) c.2034+31del (n.2034+31del) | |
16 | g.56886506C>A | CA2633374523 | SLC12A3 | c.2037+31C>A (n.2037+31C>A) c.2034+31C>A (n.2034+31C>A) | gnomAD v4 |
16 | g.56886507A= | CA2224357261 | SLC12A3 | c.2037+32A= (n.2037+32A=) c.2034+32A= (n.2034+32A=) | |
16 | g.56886509dup | CA281508970 | SLC12A3 | c.2037+34dup (n.2037+34dup) c.2034+34dup (n.2034+34dup) | dbSNP |
16 | g.56886509G>A | CA495605199 | SLC12A3 | c.2037+34G>A (n.2037+34G>A) c.2034+34G>A (n.2034+34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886509G>C | CA2224357263 | SLC12A3 | c.2037+34G>C (n.2037+34G>C) c.2034+34G>C (n.2034+34G>C) | dbSNP |
16 | g.56886509G= | CA2224357262 | SLC12A3 | c.2037+34G= (n.2037+34G=) c.2034+34G= (n.2034+34G=) | |
16 | g.56886509G>T | CA2633374526 | SLC12A3 | c.2037+34G>T (n.2037+34G>T) c.2034+34G>T (n.2034+34G>T) | gnomAD v4 |
16 | g.56886510C>A | CA2576001853 | SLC12A3 | c.2037+35C>A (n.2037+35C>A) c.2034+35C>A (n.2034+35C>A) | |
16 | g.56886510C= | CA2224357264 | SLC12A3 | c.2037+35C= (n.2037+35C=) c.2034+35C= (n.2034+35C=) | |
16 | g.56886510C>T | CA8069703 | SLC12A3 | c.2037+35C>T (n.2037+35C>T) c.2034+35C>T (n.2034+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886511A= | CA2224357265 | SLC12A3 | c.2037+36A= (n.2037+36A=) c.2034+36A= (n.2034+36A=) | |
16 | g.56886511A>G | CA622338409 | SLC12A3 | c.2037+36A>G (n.2037+36A>G) c.2034+36A>G (n.2034+36A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886512_56886513delinsTG | CA2224357266 | SLC12A3 | c.2037+37_2037+38delinsTG (n.2037+37_2037+38delinsTG) c.2034+37_2034+38delinsTG (n.2034+37_2034+38delinsTG) | |
16 | g.56886513G>A | CA2224357268 | SLC12A3 | c.2037+38G>A (n.2037+38G>A) c.2034+38G>A (n.2034+38G>A) | dbSNP gnomAD v4 |
16 | g.56886513G= | CA2224357267 | SLC12A3 | c.2037+38G= (n.2037+38G=) c.2034+38G= (n.2034+38G=) | |
16 | g.56886513G>T | CA2633374532 | SLC12A3 | c.2037+38G>T (n.2037+38G>T) c.2034+38G>T (n.2034+38G>T) | gnomAD v4 |
16 | g.56886514del | CA622338410 | SLC12A3 | c.2037+39del (n.2037+39del) c.2034+39del (n.2034+39del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886514G>T | CA2633374535 | SLC12A3 | c.2037+39G>T (n.2037+39G>T) c.2034+39G>T (n.2034+39G>T) | gnomAD v4 |
16 | g.56886515_56886516delinsTG | CA2224357269 | SLC12A3 | c.2037+40_2037+41delinsTG (n.2037+40_2037+41delinsTG) c.2034+40_2034+41delinsTG (n.2034+40_2034+41delinsTG) | |
16 | g.56886516G>A | CA8069704 | SLC12A3 | c.2037+41G>A (n.2037+41G>A) c.2034+41G>A (n.2034+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886516G= | CA2224357270 | SLC12A3 | c.2037+41G= (n.2037+41G=) c.2034+41G= (n.2034+41G=) | |
16 | g.56886517del | CA622338411 | SLC12A3 | c.2037+42del (n.2037+42del) c.2034+42del (n.2034+42del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886517G>T | CA2633374538 | SLC12A3 | c.2037+42G>T (n.2037+42G>T) c.2034+42G>T (n.2034+42G>T) | gnomAD v4 |
16 | g.56886518C>A | CA2576001854 | SLC12A3 | c.2037+43C>A (n.2037+43C>A) c.2034+43C>A (n.2034+43C>A) | gnomAD v4 |
16 | g.56886518C= | CA2224357271 | SLC12A3 | c.2037+43C= (n.2037+43C=) c.2034+43C= (n.2034+43C=) | |
16 | g.56886518C>T | CA2224357272 | SLC12A3 | c.2037+43C>T (n.2037+43C>T) c.2034+43C>T (n.2034+43C>T) | dbSNP gnomAD v4 |
16 | g.56886519T>A | CA2633374541 | SLC12A3 | c.2037+44T>A (n.2037+44T>A) c.2034+44T>A (n.2034+44T>A) | gnomAD v4 |
16 | g.56886520C= | CA2224357273 | SLC12A3 | c.2037+45C= (n.2037+45C=) c.2034+45C= (n.2034+45C=) | |
16 | g.56886520C>T | CA8069705 | SLC12A3 | c.2037+45C>T (n.2037+45C>T) c.2034+45C>T (n.2034+45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886522T>C | CA2633374543 | SLC12A3 | c.2037+47T>C (n.2037+47T>C) c.2034+47T>C (n.2034+47T>C) | gnomAD v4 |
16 | g.56886523G>T | CA2633374545 | SLC12A3 | c.2037+48G>T (n.2037+48G>T) c.2034+48G>T (n.2034+48G>T) | gnomAD v4 |
16 | g.56886523_56886524delinsGC | CA2224357274 | SLC12A3 | c.2037+48_2037+49delinsGC (n.2037+48_2037+49delinsGC) c.2034+48_2034+49delinsGC (n.2034+48_2034+49delinsGC) | |
16 | g.56886524C>A | CA2576001855 | SLC12A3 | c.2037+49C>A (n.2037+49C>A) c.2034+49C>A (n.2034+49C>A) | gnomAD v4 |
16 | g.56886524C>T | CA2633374547 | SLC12A3 | c.2037+49C>T (n.2037+49C>T) c.2034+49C>T (n.2034+49C>T) | gnomAD v4 |
16 | g.56886525del | CA721937475 | SLC12A3 | c.2037+50del (n.2037+50del) c.2034+50del (n.2034+50del) | dbSNP |
16 | g.56886525C>A | CA2633374549 | SLC12A3 | c.2037+50C>A (n.2037+50C>A) c.2034+50C>A (n.2034+50C>A) | gnomAD v4 |
16 | g.56886526T>C | CA2576001856 | SLC12A3 | c.2037+51T>C (n.2037+51T>C) c.2034+51T>C (n.2034+51T>C) | gnomAD v4 |
16 | g.56886527G>A | CA977647356 | SLC12A3 | c.2037+52G>A (n.2037+52G>A) c.2034+52G>A (n.2034+52G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886527G= | CA2224357275 | SLC12A3 | c.2037+52G= (n.2037+52G=) c.2034+52G= (n.2034+52G=) | |
16 | g.56886528T>G | CA2576001857 | SLC12A3 | c.2037+53T>G (n.2037+53T>G) c.2034+53T>G (n.2034+53T>G) | |
16 | g.56886531A= | CA2224357276 | SLC12A3 | c.2037+56A= (n.2037+56A=) c.2034+56A= (n.2034+56A=) | |
16 | g.56886531A>C | CA2224357277 | SLC12A3 | c.2037+56A>C (n.2037+56A>C) c.2034+56A>C (n.2034+56A>C) | dbSNP |
16 | g.56886532C>A | CA2633374553 | SLC12A3 | c.2037+57C>A (n.2037+57C>A) c.2034+57C>A (n.2034+57C>A) | gnomAD v4 |
16 | g.56886532C>G | CA2633374554 | SLC12A3 | c.2037+57C>G (n.2037+57C>G) c.2034+57C>G (n.2034+57C>G) | gnomAD v4 |
16 | g.56886532C>T | CA2633374556 | SLC12A3 | c.2037+57C>T (n.2037+57C>T) c.2034+57C>T (n.2034+57C>T) | gnomAD v4 |
16 | g.56886533C>A | CA2576001858 | SLC12A3 | c.2037+58C>A (n.2037+58C>A) c.2034+58C>A (n.2034+58C>A) | gnomAD v4 |
16 | g.56886533C= | CA2224357278 | SLC12A3 | c.2037+58C= (n.2037+58C=) c.2034+58C= (n.2034+58C=) | |
16 | g.56886533C>T | CA622338481 | SLC12A3 | c.2037+58C>T (n.2037+58C>T) c.2034+58C>T (n.2034+58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886534C>G | CA2633374559 | SLC12A3 | c.2037+59C>G (n.2037+59C>G) c.2034+59C>G (n.2034+59C>G) | gnomAD v4 |
16 | g.56886535A>G | CA2633374561 | SLC12A3 | c.2037+60A>G (n.2037+60A>G) c.2034+60A>G (n.2034+60A>G) | gnomAD v4 |
16 | g.56886536G>A | CA281508993 | SLC12A3 | c.2037+61G>A (n.2037+61G>A) c.2034+61G>A (n.2034+61G>A) | dbSNP |
16 | g.56886536G= | CA2224357279 | SLC12A3 | c.2037+61G= (n.2037+61G=) c.2034+61G= (n.2034+61G=) | |
16 | g.56886536G>T | CA2633374562 | SLC12A3 | c.2037+61G>T (n.2037+61G>T) c.2034+61G>T (n.2034+61G>T) | gnomAD v4 |
16 | g.56886537C>A | CA2576001859 | SLC12A3 | c.2037+62C>A (n.2037+62C>A) c.2034+62C>A (n.2034+62C>A) | gnomAD v4 |
16 | g.56886538A>T | CA2807160506 | SLC12A3 | c.2037+63A>T (n.2037+63A>T) c.2034+63A>T (n.2034+63A>T) | |
16 | g.56886539C>A | CA2633374565 | SLC12A3 | c.2037+64C>A (n.2037+64C>A) c.2034+64C>A (n.2034+64C>A) | gnomAD v4 |
16 | g.56886539C= | CA2224357280 | SLC12A3 | c.2037+64C= (n.2037+64C=) c.2034+64C= (n.2034+64C=) | |
16 | g.56886539C>T | CA281509006 | SLC12A3 | c.2037+64C>T (n.2037+64C>T) c.2034+64C>T (n.2034+64C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886540T>C | CA2633374567 | SLC12A3 | c.2037+65T>C (n.2037+65T>C) c.2034+65T>C (n.2034+65T>C) | gnomAD v4 |
16 | g.56886541C>A | CA2633374568 | SLC12A3 | c.2037+66C>A (n.2037+66C>A) c.2034+66C>A (n.2034+66C>A) | gnomAD v4 |
16 | g.56886541C>T | CA2807160507 | SLC12A3 | c.2037+66C>T (n.2037+66C>T) c.2034+66C>T (n.2034+66C>T) | |
16 | g.56886546del | CA2633374570 | SLC12A3 | c.2037+71del (n.2037+71del) c.2034+71del (n.2034+71del) | gnomAD v4 |
16 | g.56886544G>A | CA2633374572 | SLC12A3 | c.2037+69G>A (n.2037+69G>A) c.2034+69G>A (n.2034+69G>A) | gnomAD v4 |
16 | g.56886544G>C | CA2224357282 | SLC12A3 | c.2037+69G>C (n.2037+69G>C) c.2034+69G>C (n.2034+69G>C) | dbSNP gnomAD v4 |
16 | g.56886544G= | CA2224357281 | SLC12A3 | c.2037+69G= (n.2037+69G=) c.2034+69G= (n.2034+69G=) | |
16 | g.56886544G>T | CA2633374573 | SLC12A3 | c.2037+69G>T (n.2037+69G>T) c.2034+69G>T (n.2034+69G>T) | gnomAD v4 |
16 | g.56886545G>A | CA2633374576 | SLC12A3 | c.2037+70G>A (n.2037+70G>A) c.2034+70G>A (n.2034+70G>A) | gnomAD v4 |
16 | g.56886545G>T | CA2633374578 | SLC12A3 | c.2037+70G>T (n.2037+70G>T) c.2034+70G>T (n.2034+70G>T) | gnomAD v4 |