Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.74421632_74422072del | CA2499226858 | SLC16A2 | c.-6_430+5del | ClinVar dbSNP |
X | g.74421803_74421820dup | CA643005912 | SLC16A2 | c.166_183dup (p.Pro61_Ala62insGlnProLeuProAspPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421803_74421820del | CA2511557643 | SLC16A2 | c.166_183del (p.Gln56_Pro61del) | |
X | g.74421811_74421828del | CA2694114358 | SLC16A2 | c.174_191del (p.Pro59_Leu64del) | gnomAD v4 |
X | g.74421817_74421834del | CA2579647047 | SLC16A2 | c.180_197del (p.Asp60_Pro65del) | |
X | g.74421814G>A | CA517464327 | SLC16A2 | c.177G>A (p.Pro59=) | gnomAD v4 |
X | g.74421814G>C | CA517464328 | SLC16A2 | c.177G>C (p.Pro59=) | gnomAD v4 |
X | g.74421814G>T | CA517464329 | SLC16A2 | c.177G>T (p.Pro59=) | gnomAD v4 |
X | g.74421815G>A | CA413655938 | SLC16A2 | c.178G>A (p.Asp60Asn) | |
X | g.74421815G>C | CA413655940 | SLC16A2 | c.178G>C (p.Asp60His) | |
X | g.74421815G>T | CA413655939 | SLC16A2 | c.178G>T (p.Asp60Tyr) | |
X | g.74421816A>C | CA413655941 | SLC16A2 | c.179A>C (p.Asp60Ala) | |
X | g.74421816A>G | CA413655943 | SLC16A2 | c.179A>G (p.Asp60Gly) | |
X | g.74421816A>T | CA413655942 | SLC16A2 | c.179A>T (p.Asp60Val) | gnomAD v4 |
X | g.74421817C>A | CA413655944 | SLC16A2 | c.180C>A (p.Asp60Glu) | COSMIC |
X | g.74421817C= | CA2437472600 | SLC16A2 | c.180C= (p.Asp60=) | |
X | g.74421817C>G | CA413655945 | SLC16A2 | c.180C>G (p.Asp60Glu) | |
X | g.74421817C>T | CA517464333 | SLC16A2 | c.180C>T (p.Asp60=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421820del | CA2694114359 | SLC16A2 | c.183del (p.Ala62HisfsTer22) | gnomAD v4 |
X | g.74421818C>A | CA413655946 | SLC16A2 | c.181C>A (p.Pro61Thr) | gnomAD v4 COSMIC |
X | g.74421818C>G | CA413655947 | SLC16A2 | c.181C>G (p.Pro61Ala) | |
X | g.74421818C>T | CA413655948 | SLC16A2 | c.181C>T (p.Pro61Ser) | gnomAD v4 |
X | g.74421819C>A | CA413655949 | SLC16A2 | c.182C>A (p.Pro61His) | gnomAD v4 |
X | g.74421819C= | CA2437472601 | SLC16A2 | c.182C= (p.Pro61=) | |
X | g.74421819C>G | CA413655950 | SLC16A2 | c.182C>G (p.Pro61Arg) | |
X | g.74421819C>T | CA331275946 | SLC16A2 | c.182C>T (p.Pro61Leu) | dbSNP |
X | g.74421820C>A | CA517464335 | SLC16A2 | c.183C>A (p.Pro61=) | gnomAD v4 COSMIC |
X | g.74421820C>G | CA517464336 | SLC16A2 | c.183C>G (p.Pro61=) | |
X | g.74421820C>T | CA517464337 | SLC16A2 | c.183C>T (p.Pro61=) | |
X | g.74421821G>A | CA413655951 | SLC16A2 | c.184G>A (p.Ala62Thr) | gnomAD v4 |
X | g.74421821G>C | CA413655952 | SLC16A2 | c.184G>C (p.Ala62Pro) | gnomAD v4 |
X | g.74421821G= | CA2437472602 | SLC16A2 | c.184G= (p.Ala62=) | |
X | g.74421821G>T | CA413655953 | SLC16A2 | c.184G>T (p.Ala62Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.74421822C>A | CA413655954 | SLC16A2 | c.185C>A (p.Ala62Glu) | gnomAD v4 |
X | g.74421822C= | CA2437472603 | SLC16A2 | c.185C= (p.Ala62=) | |
X | g.74421822C>G | CA413655956 | SLC16A2 | c.185C>G (p.Ala62Gly) | |
X | g.74421822C>T | CA413655955 | SLC16A2 | c.185C>T (p.Ala62Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421823A>C | CA517464339 | SLC16A2 | c.186A>C (p.Ala62=) | |
X | g.74421823A>G | CA517464340 | SLC16A2 | c.186A>G (p.Ala62=) | |
X | g.74421823A>T | CA517464342 | SLC16A2 | c.186A>T (p.Ala62=) | |
X | g.74421824C>A | CA413655957 | SLC16A2 | c.187C>A (p.Pro63Thr) | |
X | g.74421824C>G | CA413655958 | SLC16A2 | c.187C>G (p.Pro63Ala) | |
X | g.74421824C>T | CA413655959 | SLC16A2 | c.187C>T (p.Pro63Ser) | |
X | g.74421825C>A | CA413655960 | SLC16A2 | c.188C>A (p.Pro63His) | |
X | g.74421825C>G | CA413655961 | SLC16A2 | c.188C>G (p.Pro63Arg) | |
X | g.74421825C>T | CA413655962 | SLC16A2 | c.188C>T (p.Pro63Leu) | gnomAD v4 COSMIC |
X | g.74421826C>A | CA517464344 | SLC16A2 | c.189C>A (p.Pro63=) | |
X | g.74421826C>G | CA517464345 | SLC16A2 | c.189C>G (p.Pro63=) | |
X | g.74421826C>T | CA517464346 | SLC16A2 | c.189C>T (p.Pro63=) | |
X | g.74421827C>A | CA413655963 | SLC16A2 | c.190C>A (p.Leu64Met) | gnomAD v4 |
X | g.74421827C= | CA2437472604 | SLC16A2 | c.190C= (p.Leu64=) | |
X | g.74421827C>G | CA413655964 | SLC16A2 | c.190C>G (p.Leu64Val) | |
X | g.74421827C>T | CA10454382 | SLC16A2 | c.190C>T (p.Leu64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421828T>A | CA413655966 | SLC16A2 | c.191T>A (p.Leu64Gln) | |
X | g.74421828T>C | CA413655967 | SLC16A2 | c.191T>C (p.Leu64Pro) | gnomAD v4 |
X | g.74421828T>G | CA413655965 | SLC16A2 | c.191T>G (p.Leu64Arg) | |
X | g.74421829G>A | CA517464351 | SLC16A2 | c.192G>A (p.Leu64=) | |
X | g.74421829G>C | CA517464352 | SLC16A2 | c.192G>C (p.Leu64=) | |
X | g.74421829G>T | CA517464353 | SLC16A2 | c.192G>T (p.Leu64=) | |
X | g.74421830C>A | CA413655968 | SLC16A2 | c.193C>A (p.Pro65Thr) | |
X | g.74421830C>G | CA413655969 | SLC16A2 | c.193C>G (p.Pro65Ala) | ClinVar |
X | g.74421830C>T | CA413655970 | SLC16A2 | c.193C>T (p.Pro65Ser) | |
X | g.74421831del | CA2695234495 | SLC16A2 | c.194del (p.Pro65ArgfsTer19) | |
X | g.74421831C>A | CA413655971 | SLC16A2 | c.194C>A (p.Pro65Gln) | gnomAD v4 |
X | g.74421831C= | CA2437472605 | SLC16A2 | c.194C= (p.Pro65=) | |
X | g.74421831C>G | CA10454383 | SLC16A2 | c.194C>G (p.Pro65Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421831C>T | CA413655972 | SLC16A2 | c.194C>T (p.Pro65Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421832G>A | CA517464358 | SLC16A2 | c.195G>A (p.Pro65=) | gnomAD v4 |
X | g.74421832G>C | CA517464360 | SLC16A2 | c.195G>C (p.Pro65=) | |
X | g.74421832G>T | CA517464359 | SLC16A2 | c.195G>T (p.Pro65=) | |
X | g.74421833G>A | CA413655973 | SLC16A2 | c.196G>A (p.Glu66Lys) | |
X | g.74421833G>C | CA413655974 | SLC16A2 | c.196G>C (p.Glu66Gln) | |
X | g.74421833G>T | CA413655975 | SLC16A2 | c.196G>T (p.Glu66Ter) | gnomAD v4 |
X | g.74421834A= | CA2437472606 | SLC16A2 | c.197A= (p.Glu66=) | |
X | g.74421834A>C | CA413655976 | SLC16A2 | c.197A>C (p.Glu66Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421834A>G | CA413655977 | SLC16A2 | c.197A>G (p.Glu66Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.74421834A>T | CA413655978 | SLC16A2 | c.197A>T (p.Glu66Val) | |
X | g.74421835G>A | CA517464364 | SLC16A2 | c.198G>A (p.Glu66=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421835G>C | CA413655980 | SLC16A2 | c.198G>C (p.Glu66Asp) | |
X | g.74421835G= | CA2437472607 | SLC16A2 | c.198G= (p.Glu66=) | |
X | g.74421835G>T | CA413655979 | SLC16A2 | c.198G>T (p.Glu66Asp) | |
X | g.74421836C>A | CA413655981 | SLC16A2 | c.199C>A (p.Leu67Met) | gnomAD v4 |
X | g.74421836C>G | CA413655982 | SLC16A2 | c.199C>G (p.Leu67Val) | |
X | g.74421836C>T | CA517464366 | SLC16A2 | c.199C>T (p.Leu67=) | |
X | g.74421837T>A | CA413655983 | SLC16A2 | c.200T>A (p.Leu67Gln) | |
X | g.74421837T>C | CA413655984 | SLC16A2 | c.200T>C (p.Leu67Pro) | |
X | g.74421837T>G | CA413655985 | SLC16A2 | c.200T>G (p.Leu67Arg) | |
X | g.74421838G>A | CA517464367 | SLC16A2 | c.201G>A (p.Leu67=) | |
X | g.74421838G>C | CA517464368 | SLC16A2 | c.201G>C (p.Leu67=) | |
X | g.74421838G>T | CA517464369 | SLC16A2 | c.201G>T (p.Leu67=) | |
X | g.74421839G>A | CA331275947 | SLC16A2 | c.202G>A (p.Glu68Lys) | ClinVar dbSNP gnomAD v4 |
X | g.74421839G>C | CA413655986 | SLC16A2 | c.202G>C (p.Glu68Gln) | |
X | g.74421839G= | CA2437472608 | SLC16A2 | c.202G= (p.Glu68=) | |
X | g.74421839G>T | CA413655987 | SLC16A2 | c.202G>T (p.Glu68Ter) | ClinVar dbSNP gnomAD v4 |
X | g.74421840A>C | CA413655988 | SLC16A2 | c.203A>C (p.Glu68Ala) | gnomAD v4 |
X | g.74421840A>G | CA413655989 | SLC16A2 | c.203A>G (p.Glu68Gly) | gnomAD v4 |
X | g.74421840A>T | CA413655990 | SLC16A2 | c.203A>T (p.Glu68Val) | |
X | g.74421841G>A | CA331275948 | SLC16A2 | c.204G>A (p.Glu68=) | dbSNP gnomAD v4 |
X | g.74421841G>C | CA413655991 | SLC16A2 | c.204G>C (p.Glu68Asp) | |
X | g.74421841G= | CA2437472609 | SLC16A2 | c.204G= (p.Glu68=) | |
X | g.74421841G>T | CA413655992 | SLC16A2 | c.204G>T (p.Glu68Asp) | gnomAD v4 |
X | g.74421842T>A | CA413655994 | SLC16A2 | c.205T>A (p.Phe69Ile) | |
X | g.74421842T>C | CA413655995 | SLC16A2 | c.205T>C (p.Phe69Leu) | |
X | g.74421842T>G | CA413655993 | SLC16A2 | c.205T>G (p.Phe69Val) | |
X | g.74421843T>A | CA413655998 | SLC16A2 | c.206T>A (p.Phe69Tyr) | |
X | g.74421843T>C | CA413655996 | SLC16A2 | c.206T>C (p.Phe69Ser) | |
X | g.74421843T>G | CA413655997 | SLC16A2 | c.206T>G (p.Phe69Cys) | |
X | g.74421844C>A | CA413655999 | SLC16A2 | c.207C>A (p.Phe69Leu) | gnomAD v4 |
X | g.74421844C= | CA2437472610 | SLC16A2 | c.207C= (p.Phe69=) | |
X | g.74421844C>G | CA413656000 | SLC16A2 | c.207C>G (p.Phe69Leu) | |
X | g.74421844C>T | CA517464375 | SLC16A2 | c.207C>T (p.Phe69=) | dbSNP gnomAD v4 |
X | g.74421847_74421864dup | CA2694114360 | SLC16A2 | c.210_227dup (p.Glu76_Pro77insSerGluArgValHisGlu) | gnomAD v4 |
X | g.74421845G>A | CA413656001 | SLC16A2 | c.208G>A (p.Glu70Lys) | dbSNP |
X | g.74421845G>C | CA413656002 | SLC16A2 | c.208G>C (p.Glu70Gln) | |
X | g.74421845G= | CA2437472611 | SLC16A2 | c.208G= (p.Glu70=) | |
X | g.74421845G>T | CA413656003 | SLC16A2 | c.208G>T (p.Glu70Ter) | |
X | g.74421846A>C | CA413656004 | SLC16A2 | c.209A>C (p.Glu70Ala) | |
X | g.74421846A>G | CA413656005 | SLC16A2 | c.209A>G (p.Glu70Gly) | |
X | g.74421846A>T | CA413656006 | SLC16A2 | c.209A>T (p.Glu70Val) | |
X | g.74421847G>A | CA517464382 | SLC16A2 | c.210G>A (p.Glu70=) | |
X | g.74421847G>C | CA413656007 | SLC16A2 | c.210G>C (p.Glu70Asp) | |
X | g.74421847G>T | CA413656008 | SLC16A2 | c.210G>T (p.Glu70Asp) | |
X | g.74421848T>A | CA413656010 | SLC16A2 | c.211T>A (p.Ser71Thr) | |
X | g.74421848T>C | CA413656011 | SLC16A2 | c.211T>C (p.Ser71Pro) | |
X | g.74421848T>G | CA413656009 | SLC16A2 | c.211T>G (p.Ser71Ala) | |
X | g.74421849C>A | CA413656012 | SLC16A2 | c.212C>A (p.Ser71Tyr) | gnomAD v4 |
X | g.74421849C>G | CA413656013 | SLC16A2 | c.212C>G (p.Ser71Cys) | |
X | g.74421849C>T | CA413656014 | SLC16A2 | c.212C>T (p.Ser71Phe) | |
X | g.74421850C>A | CA517464387 | SLC16A2 | c.213C>A (p.Ser71=) | |
X | g.74421850C>G | CA517464388 | SLC16A2 | c.213C>G (p.Ser71=) | gnomAD v4 |
X | g.74421850C>T | CA517464389 | SLC16A2 | c.213C>T (p.Ser71=) | gnomAD v4 |
X | g.74421851G>A | CA413656015 | SLC16A2 | c.214G>A (p.Glu72Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421851G>C | CA413656016 | SLC16A2 | c.214G>C (p.Glu72Gln) | gnomAD v4 |
X | g.74421851G= | CA2437472612 | SLC16A2 | c.214G= (p.Glu72=) | |
X | g.74421851G>T | CA413656017 | SLC16A2 | c.214G>T (p.Glu72Ter) | gnomAD v4 |
X | g.74421852A>C | CA413656018 | SLC16A2 | c.215A>C (p.Glu72Ala) | |
X | g.74421852A>G | CA413656020 | SLC16A2 | c.215A>G (p.Glu72Gly) | |
X | g.74421852A>T | CA413656019 | SLC16A2 | c.215A>T (p.Glu72Val) | |
X | g.74421853G>A | CA517464391 | SLC16A2 | c.216G>A (p.Glu72=) | |
X | g.74421853G>C | CA413656021 | SLC16A2 | c.216G>C (p.Glu72Asp) | dbSNP |
X | g.74421853G= | CA2437472613 | SLC16A2 | c.216G= (p.Glu72=) | |
X | g.74421853G>T | CA413656022 | SLC16A2 | c.216G>T (p.Glu72Asp) | |
X | g.74421854C>A | CA517464392 | SLC16A2 | c.217C>A (p.Arg73=) | gnomAD v4 |
X | g.74421854C= | CA2437472614 | SLC16A2 | c.217C= (p.Arg73=) | |
X | g.74421854C>G | CA413656023 | SLC16A2 | c.217C>G (p.Arg73Gly) | gnomAD v4 |
X | g.74421854C>T | CA413656024 | SLC16A2 | c.217C>T (p.Arg73Trp) | dbSNP gnomAD v4 |
X | g.74421855G>A | CA413656026 | SLC16A2 | c.218G>A (p.Arg73Gln) | gnomAD v4 |
X | g.74421855G>C | CA10454384 | SLC16A2 | c.218G>C (p.Arg73Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421855G= | CA2437472615 | SLC16A2 | c.218G= (p.Arg73=) | |
X | g.74421855G>T | CA413656025 | SLC16A2 | c.218G>T (p.Arg73Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421856G>A | CA517464397 | SLC16A2 | c.219G>A (p.Arg73=) | dbSNP |
X | g.74421856G>C | CA517464398 | SLC16A2 | c.219G>C (p.Arg73=) | |
X | g.74421856G= | CA2437472616 | SLC16A2 | c.219G= (p.Arg73=) | |
X | g.74421856G>T | CA517464399 | SLC16A2 | c.219G>T (p.Arg73=) | |
X | g.74421857G>A | CA413656027 | SLC16A2 | c.220G>A (p.Val74Met) | gnomAD v4 |
X | g.74421857G>C | CA413656028 | SLC16A2 | c.220G>C (p.Val74Leu) | |
X | g.74421857G>T | CA413656029 | SLC16A2 | c.220G>T (p.Val74Leu) | |
X | g.74421858T>A | CA413656030 | SLC16A2 | c.221T>A (p.Val74Glu) | |
X | g.74421858T>C | CA413656031 | SLC16A2 | c.221T>C (p.Val74Ala) | |
X | g.74421858T>G | CA413656032 | SLC16A2 | c.221T>G (p.Val74Gly) | |
X | g.74421859G>A | CA517464404 | SLC16A2 | c.222G>A (p.Val74=) | |
X | g.74421859G>C | CA517464403 | SLC16A2 | c.222G>C (p.Val74=) | |
X | g.74421859G>T | CA517464402 | SLC16A2 | c.222G>T (p.Val74=) | |
X | g.74421860C>A | CA413656033 | SLC16A2 | c.223C>A (p.His75Asn) | |
X | g.74421860C>G | CA413656034 | SLC16A2 | c.223C>G (p.His75Asp) | |
X | g.74421860C>T | CA413656035 | SLC16A2 | c.223C>T (p.His75Tyr) | gnomAD v4 |
X | g.74421861A>C | CA413656036 | SLC16A2 | c.224A>C (p.His75Pro) | gnomAD v4 |
X | g.74421861A>G | CA413656037 | SLC16A2 | c.224A>G (p.His75Arg) | ClinVar dbSNP gnomAD v4 |
X | g.74421861A>T | CA413656038 | SLC16A2 | c.224A>T (p.His75Leu) | |
X | g.74421862C>A | CA413656039 | SLC16A2 | c.225C>A (p.His75Gln) | dbSNP |
X | g.74421862C= | CA2437472617 | SLC16A2 | c.225C= (p.His75=) | |
X | g.74421862C>G | CA413656040 | SLC16A2 | c.225C>G (p.His75Gln) | gnomAD v4 |
X | g.74421862C>T | CA10454385 | SLC16A2 | c.225C>T (p.His75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421863G>A | CA413656041 | SLC16A2 | c.226G>A (p.Glu76Lys) | |
X | g.74421863G>C | CA413656042 | SLC16A2 | c.226G>C (p.Glu76Gln) | |
X | g.74421863G>T | CA413656043 | SLC16A2 | c.226G>T (p.Glu76Ter) | |
X | g.74421864A>C | CA413656044 | SLC16A2 | c.227A>C (p.Glu76Ala) | |
X | g.74421864A>G | CA413656045 | SLC16A2 | c.227A>G (p.Glu76Gly) | |
X | g.74421864A>T | CA413656046 | SLC16A2 | c.227A>T (p.Glu76Val) | |
X | g.74421865A>C | CA413656047 | SLC16A2 | c.228A>C (p.Glu76Asp) | |
X | g.74421865A>G | CA517464411 | SLC16A2 | c.228A>G (p.Glu76=) | |
X | g.74421865A>T | CA413656048 | SLC16A2 | c.228A>T (p.Glu76Asp) | |
X | g.74421866C>A | CA413656049 | SLC16A2 | c.229C>A (p.Pro77Thr) | |
X | g.74421866C>G | CA413656050 | SLC16A2 | c.229C>G (p.Pro77Ala) | |
X | g.74421866C>T | CA413656051 | SLC16A2 | c.229C>T (p.Pro77Ser) | |
X | g.74421868del | CA2695234496 | SLC16A2 | c.231del (p.Glu78SerfsTer6) | |
X | g.74421867C>A | CA413656052 | SLC16A2 | c.230C>A (p.Pro77His) | |
X | g.74421867C>G | CA413656053 | SLC16A2 | c.230C>G (p.Pro77Arg) | |
X | g.74421867C>T | CA413656054 | SLC16A2 | c.230C>T (p.Pro77Leu) | |
X | g.74421868C>A | CA517464414 | SLC16A2 | c.231C>A (p.Pro77=) | gnomAD v4 |
X | g.74421868C= | CA2437472618 | SLC16A2 | c.231C= (p.Pro77=) | |
X | g.74421868C>G | CA10454386 | SLC16A2 | c.231C>G (p.Pro77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421868C>T | CA10454387 | SLC16A2 | c.231C>T (p.Pro77=) | dbSNP ExAC |
X | g.74421869G>A | CA413656055 | SLC16A2 | c.232G>A (p.Glu78Lys) | gnomAD v4 COSMIC |
X | g.74421869G>C | CA413656057 | SLC16A2 | c.232G>C (p.Glu78Gln) | |
X | g.74421869G>T | CA413656056 | SLC16A2 | c.232G>T (p.Glu78Ter) | ClinVar |
X | g.74421870A>C | CA413656058 | SLC16A2 | c.233A>C (p.Glu78Ala) | |
X | g.74421870A>G | CA413656060 | SLC16A2 | c.233A>G (p.Glu78Gly) | |
X | g.74421870A>T | CA413656059 | SLC16A2 | c.233A>T (p.Glu78Val) | |
X | g.74421871G>A | CA517464416 | SLC16A2 | c.234G>A (p.Glu78=) | ClinVar gnomAD v4 |
X | g.74421871G>C | CA413656061 | SLC16A2 | c.234G>C (p.Glu78Asp) | |
X | g.74421871G>T | CA413656062 | SLC16A2 | c.234G>T (p.Glu78Asp) | |
X | g.74421872C>A | CA331275949 | SLC16A2 | c.235C>A (p.Pro79Thr) | ClinVar dbSNP |
X | g.74421872C= | CA2437472619 | SLC16A2 | c.235C= (p.Pro79=) | |
X | g.74421872C>G | CA413656063 | SLC16A2 | c.235C>G (p.Pro79Ala) | |
X | g.74421872C>T | CA413656064 | SLC16A2 | c.235C>T (p.Pro79Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421873C>A | CA413656065 | SLC16A2 | c.236C>A (p.Pro79His) | |
X | g.74421873C>G | CA413656066 | SLC16A2 | c.236C>G (p.Pro79Arg) | |
X | g.74421873C>T | CA413656067 | SLC16A2 | c.236C>T (p.Pro79Leu) | |
X | g.74421874C>A | CA517464428 | SLC16A2 | c.237C>A (p.Pro79=) | |
X | g.74421874C>G | CA517464426 | SLC16A2 | c.237C>G (p.Pro79=) | |
X | g.74421874C>T | CA517464424 | SLC16A2 | c.237C>T (p.Pro79=) | ClinVar gnomAD v4 |
X | g.74421875_74421878del | CA2579647048 | SLC16A2 | c.238_241del (p.Thr80LeufsTer3) | |
X | g.74421875A>C | CA413656068 | SLC16A2 | c.238A>C (p.Thr80Pro) | |
X | g.74421875A>G | CA413656069 | SLC16A2 | c.238A>G (p.Thr80Ala) | gnomAD v4 |
X | g.74421875A>T | CA413656070 | SLC16A2 | c.238A>T (p.Thr80Ser) | |
X | g.74421876C>A | CA413656071 | SLC16A2 | c.239C>A (p.Thr80Lys) | gnomAD v4 |
X | g.74421876C= | CA2437472621 | SLC16A2 | c.239C= (p.Thr80=) | |
X | g.74421876C>G | CA413656072 | SLC16A2 | c.239C>G (p.Thr80Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421876C>T | CA208861 | SLC16A2 | c.239C>T (p.Thr80Met) | ClinVar dbSNP gnomAD v4 |
X | g.74421876_74421886delinsCGCCTACGGTA | CA2437472620 | SLC16A2 | c.239_249delinsCGCCTACGGTA (p.Thr80=) | |
X | g.74421877G>A | CA517464453 | SLC16A2 | c.240G>A (p.Thr80=) | |
X | g.74421877G>C | CA517464454 | SLC16A2 | c.240G>C (p.Thr80=) | gnomAD v4 |
X | g.74421877G= | CA2437472622 | SLC16A2 | c.240G= (p.Thr80=) | |
X | g.74421877G>T | CA517464456 | SLC16A2 | c.240G>T (p.Thr80=) | |
X | g.74421877_74421878insAG | CA643005917 | SLC16A2 | c.240_241insAG (p.Pro81SerfsTer4) | gnomAD v2 |
X | g.74421878_74421887del | CA643005916 | SLC16A2 | c.241_250del (p.Pro81ArgfsTer?) | dbSNP gnomAD v2 |
X | g.74421877_74421878insAGA | CA643005918 | SLC16A2 | c.240_241insAGA (p.Thr80_Pro81insArg) | dbSNP gnomAD v2 |
X | g.74421878C>A | CA413656073 | SLC16A2 | c.241C>A (p.Pro81Thr) | dbSNP gnomAD v2 |
X | g.74421878C= | CA2437472623 | SLC16A2 | c.241C= (p.Pro81=) | |
X | g.74421878C>G | CA413656074 | SLC16A2 | c.241C>G (p.Pro81Ala) | |
X | g.74421878C>T | CA413656075 | SLC16A2 | c.241C>T (p.Pro81Ser) | |
X | g.74421879C>A | CA413656076 | SLC16A2 | c.242C>A (p.Pro81His) | |
X | g.74421879C= | CA2437472624 | SLC16A2 | c.242C= (p.Pro81=) | |
X | g.74421879C>G | CA413656077 | SLC16A2 | c.242C>G (p.Pro81Arg) | dbSNP gnomAD v2 |
X | g.74421879C>T | CA413656078 | SLC16A2 | c.242C>T (p.Pro81Leu) | |
X | g.74421880T>A | CA517464460 | SLC16A2 | c.243T>A (p.Pro81=) | |
X | g.74421880T>C | CA517464462 | SLC16A2 | c.243T>C (p.Pro81=) | |
X | g.74421880T>G | CA517464463 | SLC16A2 | c.243T>G (p.Pro81=) | dbSNP gnomAD v2 |
X | g.74421880T= | CA2437472625 | SLC16A2 | c.243T= (p.Pro81=) | |
X | g.74421881A>C | CA413656079 | SLC16A2 | c.244A>C (p.Thr82Pro) | |
X | g.74421881A>G | CA413656080 | SLC16A2 | c.244A>G (p.Thr82Ala) | gnomAD v4 |
X | g.74421881A>T | CA413656081 | SLC16A2 | c.244A>T (p.Thr82Ser) | |
X | g.74421882C>A | CA413656083 | SLC16A2 | c.245C>A (p.Thr82Lys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421882C= | CA2437472626 | SLC16A2 | c.245C= (p.Thr82=) | |
X | g.74421882C>G | CA413656084 | SLC16A2 | c.245C>G (p.Thr82Arg) | |
X | g.74421882C>T | CA413656082 | SLC16A2 | c.245C>T (p.Thr82Met) | |
X | g.74421883G>A | CA517464469 | SLC16A2 | c.246G>A (p.Thr82=) | |
X | g.74421883G>C | CA517464470 | SLC16A2 | c.246G>C (p.Thr82=) | gnomAD v4 |
X | g.74421883G>T | CA517464471 | SLC16A2 | c.246G>T (p.Thr82=) | gnomAD v4 |
X | g.74421884G>A | CA413656085 | SLC16A2 | c.247G>A (p.Val83Ile) | |
X | g.74421884G>C | CA413656086 | SLC16A2 | c.247G>C (p.Val83Leu) | |
X | g.74421884G>T | CA413656087 | SLC16A2 | c.247G>T (p.Val83Leu) | |
X | g.74421885T>A | CA413656088 | SLC16A2 | c.248T>A (p.Val83Glu) | |
X | g.74421885T>C | CA413656089 | SLC16A2 | c.248T>C (p.Val83Ala) | |
X | g.74421885T>G | CA413656090 | SLC16A2 | c.248T>G (p.Val83Gly) | |
X | g.74421886A= | CA2437472627 | SLC16A2 | c.249A= (p.Val83=) | |
X | g.74421886A>C | CA517464474 | SLC16A2 | c.249A>C (p.Val83=) | |
X | g.74421886A>G | CA10454388 | SLC16A2 | c.249A>G (p.Val83=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.74421886A>T | CA517464477 | SLC16A2 | c.249A>T (p.Val83=) | |
X | g.74421887G>A | CA331275950 | SLC16A2 | c.250G>A (p.Glu84Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.74421887G>C | CA413656091 | SLC16A2 | c.250G>C (p.Glu84Gln) | |
X | g.74421887G= | CA2437472628 | SLC16A2 | c.250G= (p.Glu84=) | |
X | g.74421887G>T | CA413656092 | SLC16A2 | c.250G>T (p.Glu84Ter) | |
X | g.74421888A>C | CA413656093 | SLC16A2 | c.251A>C (p.Glu84Ala) | |
X | g.74421888A>G | CA413656094 | SLC16A2 | c.251A>G (p.Glu84Gly) | ClinVar |
X | g.74421888A>T | CA413656095 | SLC16A2 | c.251A>T (p.Glu84Val) | |
X | g.74421889G>A | CA517464481 | SLC16A2 | c.252G>A (p.Glu84=) | |
X | g.74421889G>C | CA413656096 | SLC16A2 | c.252G>C (p.Glu84Asp) | dbSNP gnomAD v2 |
X | g.74421889G= | CA2437472629 | SLC16A2 | c.252G= (p.Glu84=) | |
X | g.74421889G>T | CA413656097 | SLC16A2 | c.252G>T (p.Glu84Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421890A>C | CA413656098 | SLC16A2 | c.253A>C (p.Thr85Pro) | |
X | g.74421890A>G | CA413656099 | SLC16A2 | c.253A>G (p.Thr85Ala) | |
X | g.74421890A>T | CA413656100 | SLC16A2 | c.253A>T (p.Thr85Ser) | |
X | g.74421890_74421891delinsAC | CA2437472630 | SLC16A2 | c.253_254delinsAC (p.Thr85=) | |
X | g.74421891C>A | CA413656101 | SLC16A2 | c.254C>A (p.Thr85Asn) | |
X | g.74421891C>G | CA413656102 | SLC16A2 | c.254C>G (p.Thr85Ser) | |
X | g.74421891C>T | CA413656103 | SLC16A2 | c.254C>T (p.Thr85Ile) | |
X | g.74421893del | CA277060 | SLC16A2 | c.256del (p.Arg86AlafsTer?) | ClinVar dbSNP |
X | g.74421892C>A | CA517464484 | SLC16A2 | c.255C>A (p.Thr85=) c.1C>A | |
X | g.74421892C>G | CA517464485 | SLC16A2 | c.255C>G (p.Thr85=) c.1C>G | |
X | g.74421892C>T | CA517464488 | SLC16A2 | c.255C>T (p.Thr85=) c.1C>T | gnomAD v4 |
X | g.74421893C>A | CA413656104 | SLC16A2 | c.256C>A (p.Arg86Ser) c.2C>A | dbSNP gnomAD v2 |
X | g.74421893C= | CA2437472631 | SLC16A2 | c.256C= (p.Arg86=) c.2C= | |
X | g.74421893C>G | CA413656105 | SLC16A2 | c.256C>G (p.Arg86Gly) c.2C>G | |
X | g.74421893C>T | CA10454389 | SLC16A2 | c.256C>T (p.Arg86Cys) c.2C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421894G>A | CA331275951 | SLC16A2 | c.257G>A (p.Arg86His) c.3G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421894G>C | CA413656106 | SLC16A2 | c.257G>C (p.Arg86Pro) c.3G>C | |
X | g.74421894G= | CA2437472632 | SLC16A2 | c.257G= (p.Arg86=) c.3G= | |
X | g.74421894G>T | CA413656107 | SLC16A2 | c.257G>T (p.Arg86Leu) c.3G>T | |
X | g.74421895C>A | CA517464500 | SLC16A2 | c.258C>A (p.Arg86=) c.4C>A | ClinVar COSMIC |
X | g.74421895C>G | CA517464497 | SLC16A2 | c.258C>G (p.Arg86=) c.4C>G | |
X | g.74421895C>T | CA517464499 | SLC16A2 | c.258C>T (p.Arg86=) c.4C>T | ClinVar gnomAD v4 |
X | g.74421896G>A | CA413656109 | SLC16A2 | c.259G>A (p.Gly87Ser) c.5G>A | |
X | g.74421896G>C | CA10454390 | SLC16A2 | c.259G>C (p.Gly87Arg) c.5G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421896G= | CA2437472633 | SLC16A2 | c.259G= (p.Gly87=) c.5G= | |
X | g.74421896G>T | CA413656108 | SLC16A2 | c.259G>T (p.Gly87Cys) c.5G>T | |
X | g.74421897G>A | CA413656110 | SLC16A2 | c.260G>A (p.Gly87Asp) c.6G>A | gnomAD v4 |
X | g.74421897G>C | CA413656111 | SLC16A2 | c.260G>C (p.Gly87Ala) c.6G>C | |
X | g.74421897G>T | CA413656112 | SLC16A2 | c.260G>T (p.Gly87Val) c.6G>T | |
X | g.74421898C>A | CA517464508 | SLC16A2 | c.261C>A (p.Gly87=) c.7C>A | gnomAD v4 |
X | g.74421898C>G | CA517464509 | SLC16A2 | c.261C>G (p.Gly87=) c.7C>G | |
X | g.74421898C>T | CA517464510 | SLC16A2 | c.261C>T (p.Gly87=) c.7C>T | |
X | g.74421899A= | CA2437472634 | SLC16A2 | c.262A= (p.Thr88=) c.8A= | |
X | g.74421899A>C | CA413656113 | SLC16A2 | c.262A>C (p.Thr88Pro) c.8A>C | |
X | g.74421899A>G | CA10454391 | SLC16A2 | c.262A>G (p.Thr88Ala) c.8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421899A>T | CA413656114 | SLC16A2 | c.262A>T (p.Thr88Ser) c.8A>T | |
X | g.74421900C>A | CA413656117 | SLC16A2 | c.263C>A (p.Thr88Asn) c.9C>A | |
X | g.74421900C>G | CA413656115 | SLC16A2 | c.263C>G (p.Thr88Ser) c.9C>G | |
X | g.74421900C>T | CA413656116 | SLC16A2 | c.263C>T (p.Thr88Ile) c.9C>T | |
X | g.74421901C>A | CA517464526 | SLC16A2 | c.264C>A (p.Thr88=) c.10C>A | |
X | g.74421901C= | CA2437472635 | SLC16A2 | c.264C= (p.Thr88=) c.10C= | |
X | g.74421901C>G | CA517464528 | SLC16A2 | c.264C>G (p.Thr88=) c.10C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421901C>T | CA517464529 | SLC16A2 | c.264C>T (p.Thr88=) c.10C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G>A | CA10454393 | SLC16A2 | c.265G>A (p.Ala89Thr) c.11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G>C | CA10454392 | SLC16A2 | c.265G>C (p.Ala89Pro) c.11G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G= | CA2437472636 | SLC16A2 | c.265G= (p.Ala89=) c.11G= | |
X | g.74421902G>T | CA413656118 | SLC16A2 | c.265G>T (p.Ala89Ser) c.11G>T | |
X | g.74421903C>A | CA413656119 | SLC16A2 | c.266C>A (p.Ala89Glu) c.12C>A | dbSNP |
X | g.74421903C= | CA2437472637 | SLC16A2 | c.266C= (p.Ala89=) c.12C= | |
X | g.74421903C>G | CA413656120 | SLC16A2 | c.266C>G (p.Ala89Gly) c.12C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421903C>T | CA413656121 | SLC16A2 | c.266C>T (p.Ala89Val) c.12C>T | gnomAD v4 |
X | g.74421904G>A | CA331275952 | SLC16A2 | c.267G>A (p.Ala89=) c.13G>A | dbSNP gnomAD v4 |
X | g.74421904G>C | CA517464535 | SLC16A2 | c.267G>C (p.Ala89=) c.13G>C | |
X | g.74421904G= | CA2437472638 | SLC16A2 | c.267G= (p.Ala89=) c.13G= | |
X | g.74421904G>T | CA517464536 | SLC16A2 | c.267G>T (p.Ala89=) c.13G>T | |
X | g.74421905C>A | CA413656122 | SLC16A2 | c.268C>A (p.Arg90Ser) c.14C>A | gnomAD v4 |
X | g.74421905C= | CA2437472639 | SLC16A2 | c.268C= (p.Arg90=) c.14C= | |
X | g.74421905C>G | CA413656124 | SLC16A2 | c.268C>G (p.Arg90Gly) c.14C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421905C>T | CA413656123 | SLC16A2 | c.268C>T (p.Arg90Cys) c.14C>T | gnomAD v4 |
X | g.74421906G>A | CA413656125 | SLC16A2 | c.269G>A (p.Arg90His) c.15G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421906G>C | CA413656126 | SLC16A2 | c.269G>C (p.Arg90Pro) c.15G>C | |
X | g.74421906G= | CA2437472640 | SLC16A2 | c.269G= (p.Arg90=) c.15G= | |
X | g.74421906G>T | CA413656127 | SLC16A2 | c.269G>T (p.Arg90Leu) c.15G>T | |
X | g.74421906_74421907delinsAA | CA2740092201 | SLC16A2 | c.269_270delinsAA (p.Arg90Gln) c.15_16delinsAA | ClinVar |
X | g.74421907C>A | CA517464541 | SLC16A2 | c.270C>A (p.Arg90=) c.16C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421907C= | CA2437472641 | SLC16A2 | c.270C= (p.Arg90=) c.16C= | |
X | g.74421907C>G | CA517464542 | SLC16A2 | c.270C>G (p.Arg90=) c.16C>G | |
X | g.74421907C>T | CA517464543 | SLC16A2 | c.270C>T (p.Arg90=) c.16C>T | COSMIC |
X | g.74421908G>A | CA331275953 | SLC16A2 | c.271G>A (p.Gly91Ser) c.17G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421908G>C | CA413656128 | SLC16A2 | c.271G>C (p.Gly91Arg) c.17G>C | |
X | g.74421908G= | CA2437472642 | SLC16A2 | c.271G= (p.Gly91=) c.17G= | |
X | g.74421908G>T | CA413656129 | SLC16A2 | c.271G>T (p.Gly91Cys) c.17G>T | dbSNP gnomAD v2 |
X | g.74421909G>A | CA413656130 | SLC16A2 | c.272G>A (p.Gly91Asp) c.18G>A | dbSNP COSMIC |
X | g.74421909G>C | CA413656131 | SLC16A2 | c.272G>C (p.Gly91Ala) c.18G>C | |
X | g.74421909G= | CA2437472643 | SLC16A2 | c.272G= (p.Gly91=) c.18G= | |
X | g.74421909G>T | CA413656132 | SLC16A2 | c.272G>T (p.Gly91Val) c.18G>T | |
X | g.74421910C>A | CA517464545 | SLC16A2 | c.273C>A (p.Gly91=) c.19C>A | |
X | g.74421910C>G | CA517464547 | SLC16A2 | c.273C>G (p.Gly91=) c.19C>G | gnomAD v4 |
X | g.74421910C>T | CA517464550 | SLC16A2 | c.273C>T (p.Gly91=) c.19C>T | |
X | g.74421911T>A | CA413656133 | SLC16A2 | c.274T>A (p.Phe92Ile) c.20T>A | |
X | g.74421911T>C | CA413656134 | SLC16A2 | c.274T>C (p.Phe92Leu) c.20T>C | |
X | g.74421911T>G | CA413656135 | SLC16A2 | c.274T>G (p.Phe92Val) c.20T>G | |
X | g.74421912T>A | CA413656136 | SLC16A2 | c.275T>A (p.Phe92Tyr) c.21T>A | |
X | g.74421912T>C | CA413656138 | SLC16A2 | c.275T>C (p.Phe92Ser) c.21T>C | |
X | g.74421912T>G | CA413656137 | SLC16A2 | c.275T>G (p.Phe92Cys) c.21T>G | |
X | g.74421913C>A | CA413656139 | SLC16A2 | c.276C>A (p.Phe92Leu) c.22C>A | |
X | g.74421913C>G | CA413656140 | SLC16A2 | c.276C>G (p.Phe92Leu) c.22C>G | |
X | g.74421913C>T | CA517464561 | SLC16A2 | c.276C>T (p.Phe92=) c.22C>T | |
X | g.74421914C>A | CA413656141 | SLC16A2 | c.277C>A (p.Gln93Lys) c.23C>A | |
X | g.74421914C= | CA2437472644 | SLC16A2 | c.277C= (p.Gln93=) c.23C= | |
X | g.74421914C>G | CA413656142 | SLC16A2 | c.277C>G (p.Gln93Glu) c.23C>G | |
X | g.74421914C>T | CA272493 | SLC16A2 | c.277C>T (p.Gln93Ter) c.23C>T | ClinVar dbSNP |