Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.19918818G>A | CA2655329288 | TXNRD2 | c.374+42C>T (n.374+42C>T) c.284+42C>T (n.284+42C>T) c.371+42C>T (n.371+42C>T) c.305+42C>T (n.305+42C>T) c.317+42C>T (n.317+42C>T) c.278+42C>T (n.278+42C>T) n.379+42C>T c.86+42C>T (n.86+42C>T) n.506+42C>T n.332+42C>T | gnomAD v4 |
22 | g.19918818G>T | CA2655329287 | TXNRD2 | c.374+42C>A (n.374+42C>A) c.284+42C>A (n.284+42C>A) c.371+42C>A (n.371+42C>A) c.305+42C>A (n.305+42C>A) c.317+42C>A (n.317+42C>A) c.278+42C>A (n.278+42C>A) n.379+42C>A c.86+42C>A (n.86+42C>A) n.506+42C>A n.332+42C>A | gnomAD v4 |
22 | g.19918819T>C | CA638367407 | TXNRD2 | c.374+41A>G (n.374+41A>G) c.284+41A>G (n.284+41A>G) c.371+41A>G (n.371+41A>G) c.305+41A>G (n.305+41A>G) c.317+41A>G (n.317+41A>G) c.278+41A>G (n.278+41A>G) n.379+41A>G c.86+41A>G (n.86+41A>G) n.506+41A>G n.332+41A>G | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918819T= | CA2396103696 | TXNRD2 | c.374+41A= (n.374+41A=) c.284+41A= (n.284+41A=) c.371+41A= (n.371+41A=) c.305+41A= (n.305+41A=) c.317+41A= (n.317+41A=) c.278+41A= (n.278+41A=) n.379+41A= c.86+41A= (n.86+41A=) n.506+41A= n.332+41A= | |
22 | g.19918820A>G | CA2655329289 | TXNRD2 | c.374+40T>C (n.374+40T>C) c.284+40T>C (n.284+40T>C) c.371+40T>C (n.371+40T>C) c.305+40T>C (n.305+40T>C) c.317+40T>C (n.317+40T>C) c.278+40T>C (n.278+40T>C) n.379+40T>C c.86+40T>C (n.86+40T>C) n.506+40T>C n.332+40T>C | gnomAD v4 |
22 | g.19918821del | CA2577648397 | TXNRD2 | c.374+39del (n.374+39del) c.284+39del (n.284+39del) c.371+39del (n.371+39del) c.305+39del (n.305+39del) c.317+39del (n.317+39del) c.278+39del (n.278+39del) n.379+39del c.86+39del (n.86+39del) n.506+39del n.332+39del | |
22 | g.19918821G>A | CA10104237 | TXNRD2 | c.374+39C>T (n.374+39C>T) c.284+39C>T (n.284+39C>T) c.371+39C>T (n.371+39C>T) c.305+39C>T (n.305+39C>T) c.317+39C>T (n.317+39C>T) c.278+39C>T (n.278+39C>T) n.379+39C>T c.86+39C>T (n.86+39C>T) n.506+39C>T n.332+39C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918821G= | CA2396103697 | TXNRD2 | c.374+39C= (n.374+39C=) c.284+39C= (n.284+39C=) c.371+39C= (n.371+39C=) c.305+39C= (n.305+39C=) c.317+39C= (n.317+39C=) c.278+39C= (n.278+39C=) n.379+39C= c.86+39C= (n.86+39C=) n.506+39C= n.332+39C= | |
22 | g.19918821_19918826delinsGAAGAA | CA2396103698 | TXNRD2 | c.374+34_374+39delinsTTCTTC (n.374+34_374+39delinsTTCTTC) c.284+34_284+39delinsTTCTTC (n.284+34_284+39delinsTTCTTC) c.371+34_371+39delinsTTCTTC (n.371+34_371+39delinsTTCTTC) c.305+34_305+39delinsTTCTTC (n.305+34_305+39delinsTTCTTC) c.317+34_317+39delinsTTCTTC (n.317+34_317+39delinsTTCTTC) c.278+34_278+39delinsTTCTTC (n.278+34_278+39delinsTTCTTC) n.379+34_379+39delinsTTCTTC c.86+34_86+39delinsTTCTTC (n.86+34_86+39delinsTTCTTC) n.506+34_506+39delinsTTCTTC n.332+34_332+39delinsTTCTTC | |
22 | g.19918822A= | CA2396103699 | TXNRD2 | c.374+38T= (n.374+38T=) c.284+38T= (n.284+38T=) c.371+38T= (n.371+38T=) c.305+38T= (n.305+38T=) c.317+38T= (n.317+38T=) c.278+38T= (n.278+38T=) n.379+38T= c.86+38T= (n.86+38T=) n.506+38T= n.332+38T= | |
22 | g.19918822A>C | CA10104238 | TXNRD2 | c.374+38T>G (n.374+38T>G) c.284+38T>G (n.284+38T>G) c.371+38T>G (n.371+38T>G) c.305+38T>G (n.305+38T>G) c.317+38T>G (n.317+38T>G) c.278+38T>G (n.278+38T>G) n.379+38T>G c.86+38T>G (n.86+38T>G) n.506+38T>G n.332+38T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918825_19918829del | CA2396103700 | TXNRD2 | c.374+34_374+38del (n.374+34_374+38del) c.284+34_284+38del (n.284+34_284+38del) c.371+34_371+38del (n.371+34_371+38del) c.305+34_305+38del (n.305+34_305+38del) c.317+34_317+38del (n.317+34_317+38del) c.278+34_278+38del (n.278+34_278+38del) n.379+34_379+38del c.86+34_86+38del (n.86+34_86+38del) n.506+34_506+38del n.332+34_332+38del | dbSNP gnomAD v4 |
22 | g.19918825A= | CA2396103701 | TXNRD2 | c.374+35T= (n.374+35T=) c.284+35T= (n.284+35T=) c.371+35T= (n.371+35T=) c.305+35T= (n.305+35T=) c.317+35T= (n.317+35T=) c.278+35T= (n.278+35T=) n.379+35T= c.86+35T= (n.86+35T=) n.506+35T= n.332+35T= | |
22 | g.19918825A>G | CA10104239 | TXNRD2 | c.374+35T>C (n.374+35T>C) c.284+35T>C (n.284+35T>C) c.371+35T>C (n.371+35T>C) c.305+35T>C (n.305+35T>C) c.317+35T>C (n.317+35T>C) c.278+35T>C (n.278+35T>C) n.379+35T>C c.86+35T>C (n.86+35T>C) n.506+35T>C n.332+35T>C | dbSNP ExAC gnomAD v2 |
22 | g.19918826A= | CA2396103702 | TXNRD2 | c.374+34T= (n.374+34T=) c.284+34T= (n.284+34T=) c.371+34T= (n.371+34T=) c.305+34T= (n.305+34T=) c.317+34T= (n.317+34T=) c.278+34T= (n.278+34T=) n.379+34T= c.86+34T= (n.86+34T=) n.506+34T= n.332+34T= | |
22 | g.19918826A>G | CA1024155079 | TXNRD2 | c.374+34T>C (n.374+34T>C) c.284+34T>C (n.284+34T>C) c.371+34T>C (n.371+34T>C) c.305+34T>C (n.305+34T>C) c.317+34T>C (n.317+34T>C) c.278+34T>C (n.278+34T>C) n.379+34T>C c.86+34T>C (n.86+34T>C) n.506+34T>C n.332+34T>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918828A>C | CA2655329292 | TXNRD2 | c.374+32T>G (n.374+32T>G) c.284+32T>G (n.284+32T>G) c.371+32T>G (n.371+32T>G) c.305+32T>G (n.305+32T>G) c.317+32T>G (n.317+32T>G) c.278+32T>G (n.278+32T>G) n.379+32T>G c.86+32T>G (n.86+32T>G) n.506+32T>G n.332+32T>G | gnomAD v4 |
22 | g.19918829G>T | CA2655329293 | TXNRD2 | c.374+31C>A (n.374+31C>A) c.284+31C>A (n.284+31C>A) c.371+31C>A (n.371+31C>A) c.305+31C>A (n.305+31C>A) c.317+31C>A (n.317+31C>A) c.278+31C>A (n.278+31C>A) n.379+31C>A c.86+31C>A (n.86+31C>A) n.506+31C>A n.332+31C>A | gnomAD v4 |
22 | g.19918830C>A | CA2655329295 | TXNRD2 | c.374+30G>T (n.374+30G>T) c.284+30G>T (n.284+30G>T) c.371+30G>T (n.371+30G>T) c.305+30G>T (n.305+30G>T) c.317+30G>T (n.317+30G>T) c.278+30G>T (n.278+30G>T) n.379+30G>T c.86+30G>T (n.86+30G>T) n.506+30G>T n.332+30G>T | gnomAD v4 |
22 | g.19918830C= | CA2396103703 | TXNRD2 | c.374+30G= (n.374+30G=) c.284+30G= (n.284+30G=) c.371+30G= (n.371+30G=) c.305+30G= (n.305+30G=) c.317+30G= (n.317+30G=) c.278+30G= (n.278+30G=) n.379+30G= c.86+30G= (n.86+30G=) n.506+30G= n.332+30G= | |
22 | g.19918830C>T | CA638367408 | TXNRD2 | c.374+30G>A (n.374+30G>A) c.284+30G>A (n.284+30G>A) c.371+30G>A (n.371+30G>A) c.305+30G>A (n.305+30G>A) c.317+30G>A (n.317+30G>A) c.278+30G>A (n.278+30G>A) n.379+30G>A c.86+30G>A (n.86+30G>A) n.506+30G>A n.332+30G>A | dbSNP gnomAD v2 |
22 | g.19918831A>T | CA2655329297 | TXNRD2 | c.374+29T>A (n.374+29T>A) c.284+29T>A (n.284+29T>A) c.371+29T>A (n.371+29T>A) c.305+29T>A (n.305+29T>A) c.317+29T>A (n.317+29T>A) c.278+29T>A (n.278+29T>A) n.379+29T>A c.86+29T>A (n.86+29T>A) n.506+29T>A n.332+29T>A | gnomAD v4 |
22 | g.19918832C>A | CA2839264243 | TXNRD2 | c.374+28G>T (n.374+28G>T) c.284+28G>T (n.284+28G>T) c.371+28G>T (n.371+28G>T) c.305+28G>T (n.305+28G>T) c.317+28G>T (n.317+28G>T) c.278+28G>T (n.278+28G>T) n.379+28G>T c.86+28G>T (n.86+28G>T) n.506+28G>T n.332+28G>T | |
22 | g.19918832C>G | CA2655329298 | TXNRD2 | c.374+28G>C (n.374+28G>C) c.284+28G>C (n.284+28G>C) c.371+28G>C (n.371+28G>C) c.305+28G>C (n.305+28G>C) c.317+28G>C (n.317+28G>C) c.278+28G>C (n.278+28G>C) n.379+28G>C c.86+28G>C (n.86+28G>C) n.506+28G>C n.332+28G>C | gnomAD v4 |
22 | g.19918832C>T | CA2655329299 | TXNRD2 | c.374+28G>A (n.374+28G>A) c.284+28G>A (n.284+28G>A) c.371+28G>A (n.371+28G>A) c.305+28G>A (n.305+28G>A) c.317+28G>A (n.317+28G>A) c.278+28G>A (n.278+28G>A) n.379+28G>A c.86+28G>A (n.86+28G>A) n.506+28G>A n.332+28G>A | gnomAD v4 |
22 | g.19918833T>C | CA2655329301 | TXNRD2 | c.374+27A>G (n.374+27A>G) c.284+27A>G (n.284+27A>G) c.371+27A>G (n.371+27A>G) c.305+27A>G (n.305+27A>G) c.317+27A>G (n.317+27A>G) c.278+27A>G (n.278+27A>G) n.379+27A>G c.86+27A>G (n.86+27A>G) n.506+27A>G n.332+27A>G | gnomAD v4 |
22 | g.19918833T>G | CA2396103705 | TXNRD2 | c.374+27A>C (n.374+27A>C) c.284+27A>C (n.284+27A>C) c.371+27A>C (n.371+27A>C) c.305+27A>C (n.305+27A>C) c.317+27A>C (n.317+27A>C) c.278+27A>C (n.278+27A>C) n.379+27A>C c.86+27A>C (n.86+27A>C) n.506+27A>C n.332+27A>C | dbSNP |
22 | g.19918833T= | CA2396103704 | TXNRD2 | c.374+27A= (n.374+27A=) c.284+27A= (n.284+27A=) c.371+27A= (n.371+27A=) c.305+27A= (n.305+27A=) c.317+27A= (n.317+27A=) c.278+27A= (n.278+27A=) n.379+27A= c.86+27A= (n.86+27A=) n.506+27A= n.332+27A= | |
22 | g.19918835G>A | CA2655329303 | TXNRD2 | c.374+25C>T (n.374+25C>T) c.284+25C>T (n.284+25C>T) c.371+25C>T (n.371+25C>T) c.305+25C>T (n.305+25C>T) c.317+25C>T (n.317+25C>T) c.278+25C>T (n.278+25C>T) n.379+25C>T c.86+25C>T (n.86+25C>T) n.506+25C>T n.332+25C>T | gnomAD v4 |
22 | g.19918835G>T | CA2655329305 | TXNRD2 | c.374+25C>A (n.374+25C>A) c.284+25C>A (n.284+25C>A) c.371+25C>A (n.371+25C>A) c.305+25C>A (n.305+25C>A) c.317+25C>A (n.317+25C>A) c.278+25C>A (n.278+25C>A) n.379+25C>A c.86+25C>A (n.86+25C>A) n.506+25C>A n.332+25C>A | gnomAD v4 |
22 | g.19918836A= | CA2396103706 | TXNRD2 | c.374+24T= (n.374+24T=) c.284+24T= (n.284+24T=) c.371+24T= (n.371+24T=) c.305+24T= (n.305+24T=) c.317+24T= (n.317+24T=) c.278+24T= (n.278+24T=) n.379+24T= c.86+24T= (n.86+24T=) n.506+24T= n.332+24T= | |
22 | g.19918836A>G | CA10104240 | TXNRD2 | c.374+24T>C (n.374+24T>C) c.284+24T>C (n.284+24T>C) c.371+24T>C (n.371+24T>C) c.305+24T>C (n.305+24T>C) c.317+24T>C (n.317+24T>C) c.278+24T>C (n.278+24T>C) n.379+24T>C c.86+24T>C (n.86+24T>C) n.506+24T>C n.332+24T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918838T>A | CA2396103708 | TXNRD2 | c.374+22A>T (n.374+22A>T) c.284+22A>T (n.284+22A>T) c.371+22A>T (n.371+22A>T) c.305+22A>T (n.305+22A>T) c.317+22A>T (n.317+22A>T) c.278+22A>T (n.278+22A>T) n.379+22A>T c.86+22A>T (n.86+22A>T) n.506+22A>T n.332+22A>T | dbSNP |
22 | g.19918838T>C | CA2655329309 | TXNRD2 | c.374+22A>G (n.374+22A>G) c.284+22A>G (n.284+22A>G) c.371+22A>G (n.371+22A>G) c.305+22A>G (n.305+22A>G) c.317+22A>G (n.317+22A>G) c.278+22A>G (n.278+22A>G) n.379+22A>G c.86+22A>G (n.86+22A>G) n.506+22A>G n.332+22A>G | gnomAD v4 |
22 | g.19918838T>G | CA2655329310 | TXNRD2 | c.374+22A>C (n.374+22A>C) c.284+22A>C (n.284+22A>C) c.371+22A>C (n.371+22A>C) c.305+22A>C (n.305+22A>C) c.317+22A>C (n.317+22A>C) c.278+22A>C (n.278+22A>C) n.379+22A>C c.86+22A>C (n.86+22A>C) n.506+22A>C n.332+22A>C | gnomAD v4 |
22 | g.19918838T= | CA2396103707 | TXNRD2 | c.374+22A= (n.374+22A=) c.284+22A= (n.284+22A=) c.371+22A= (n.371+22A=) c.305+22A= (n.305+22A=) c.317+22A= (n.317+22A=) c.278+22A= (n.278+22A=) n.379+22A= c.86+22A= (n.86+22A=) n.506+22A= n.332+22A= | |
22 | g.19918839G>A | CA10104241 | TXNRD2 | c.374+21C>T (n.374+21C>T) c.284+21C>T (n.284+21C>T) c.371+21C>T (n.371+21C>T) c.305+21C>T (n.305+21C>T) c.317+21C>T (n.317+21C>T) c.278+21C>T (n.278+21C>T) n.379+21C>T c.86+21C>T (n.86+21C>T) n.506+21C>T n.332+21C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918839G= | CA2396103709 | TXNRD2 | c.374+21C= (n.374+21C=) c.284+21C= (n.284+21C=) c.371+21C= (n.371+21C=) c.305+21C= (n.305+21C=) c.317+21C= (n.317+21C=) c.278+21C= (n.278+21C=) n.379+21C= c.86+21C= (n.86+21C=) n.506+21C= n.332+21C= | |
22 | g.19918839G>T | CA2655329311 | TXNRD2 | c.374+21C>A (n.374+21C>A) c.284+21C>A (n.284+21C>A) c.371+21C>A (n.371+21C>A) c.305+21C>A (n.305+21C>A) c.317+21C>A (n.317+21C>A) c.278+21C>A (n.278+21C>A) n.379+21C>A c.86+21C>A (n.86+21C>A) n.506+21C>A n.332+21C>A | gnomAD v4 |
22 | g.19918840C>A | CA2573157669 | TXNRD2 | c.374+20G>T (n.374+20G>T) c.284+20G>T (n.284+20G>T) c.371+20G>T (n.371+20G>T) c.305+20G>T (n.305+20G>T) c.317+20G>T (n.317+20G>T) c.278+20G>T (n.278+20G>T) n.379+20G>T c.86+20G>T (n.86+20G>T) n.506+20G>T n.332+20G>T | ClinVar dbSNP gnomAD v4 |
22 | g.19918840C= | CA2396103710 | TXNRD2 | c.374+20G= (n.374+20G=) c.284+20G= (n.284+20G=) c.371+20G= (n.371+20G=) c.305+20G= (n.305+20G=) c.317+20G= (n.317+20G=) c.278+20G= (n.278+20G=) n.379+20G= c.86+20G= (n.86+20G=) n.506+20G= n.332+20G= | |
22 | g.19918840C>T | CA638367409 | TXNRD2 | c.374+20G>A (n.374+20G>A) c.284+20G>A (n.284+20G>A) c.371+20G>A (n.371+20G>A) c.305+20G>A (n.305+20G>A) c.317+20G>A (n.317+20G>A) c.278+20G>A (n.278+20G>A) n.379+20G>A c.86+20G>A (n.86+20G>A) n.506+20G>A n.332+20G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918841C>A | CA2655329313 | TXNRD2 | c.374+19G>T (n.374+19G>T) c.284+19G>T (n.284+19G>T) c.371+19G>T (n.371+19G>T) c.305+19G>T (n.305+19G>T) c.317+19G>T (n.317+19G>T) c.278+19G>T (n.278+19G>T) n.379+19G>T c.86+19G>T (n.86+19G>T) n.506+19G>T n.332+19G>T | gnomAD v4 |
22 | g.19918843C>A | CA10104243 | TXNRD2 | c.374+17G>T (n.374+17G>T) c.284+17G>T (n.284+17G>T) c.371+17G>T (n.371+17G>T) c.305+17G>T (n.305+17G>T) c.317+17G>T (n.317+17G>T) c.278+17G>T (n.278+17G>T) n.379+17G>T c.86+17G>T (n.86+17G>T) n.506+17G>T n.332+17G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918843C= | CA2396103711 | TXNRD2 | c.374+17G= (n.374+17G=) c.284+17G= (n.284+17G=) c.371+17G= (n.371+17G=) c.305+17G= (n.305+17G=) c.317+17G= (n.317+17G=) c.278+17G= (n.278+17G=) n.379+17G= c.86+17G= (n.86+17G=) n.506+17G= n.332+17G= | |
22 | g.19918843C>T | CA10104242 | TXNRD2 | c.374+17G>A (n.374+17G>A) c.284+17G>A (n.284+17G>A) c.371+17G>A (n.371+17G>A) c.305+17G>A (n.305+17G>A) c.317+17G>A (n.317+17G>A) c.278+17G>A (n.278+17G>A) n.379+17G>A c.86+17G>A (n.86+17G>A) n.506+17G>A n.332+17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918844G>A | CA10104245 | TXNRD2 | c.374+16C>T (n.374+16C>T) c.284+16C>T (n.284+16C>T) c.371+16C>T (n.371+16C>T) c.305+16C>T (n.305+16C>T) c.317+16C>T (n.317+16C>T) c.278+16C>T (n.278+16C>T) n.379+16C>T c.86+16C>T (n.86+16C>T) n.506+16C>T n.332+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918844G>C | CA2655329323 | TXNRD2 | c.374+16C>G (n.374+16C>G) c.284+16C>G (n.284+16C>G) c.371+16C>G (n.371+16C>G) c.305+16C>G (n.305+16C>G) c.317+16C>G (n.317+16C>G) c.278+16C>G (n.278+16C>G) n.379+16C>G c.86+16C>G (n.86+16C>G) n.506+16C>G n.332+16C>G | gnomAD v4 |
22 | g.19918844G= | CA2396103712 | TXNRD2 | c.374+16C= (n.374+16C=) c.284+16C= (n.284+16C=) c.371+16C= (n.371+16C=) c.305+16C= (n.305+16C=) c.317+16C= (n.317+16C=) c.278+16C= (n.278+16C=) n.379+16C= c.86+16C= (n.86+16C=) n.506+16C= n.332+16C= | |
22 | g.19918844G>T | CA10104244 | TXNRD2 | c.374+16C>A (n.374+16C>A) c.284+16C>A (n.284+16C>A) c.371+16C>A (n.371+16C>A) c.305+16C>A (n.305+16C>A) c.317+16C>A (n.317+16C>A) c.278+16C>A (n.278+16C>A) n.379+16C>A c.86+16C>A (n.86+16C>A) n.506+16C>A n.332+16C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918845G>T | CA2655329325 | TXNRD2 | c.374+15C>A (n.374+15C>A) c.284+15C>A (n.284+15C>A) c.371+15C>A (n.371+15C>A) c.305+15C>A (n.305+15C>A) c.317+15C>A (n.317+15C>A) c.278+15C>A (n.278+15C>A) n.379+15C>A c.86+15C>A (n.86+15C>A) n.506+15C>A n.332+15C>A | gnomAD v4 |
22 | g.19918846C>A | CA2655329326 | TXNRD2 | c.374+14G>T (n.374+14G>T) c.284+14G>T (n.284+14G>T) c.371+14G>T (n.371+14G>T) c.305+14G>T (n.305+14G>T) c.317+14G>T (n.317+14G>T) c.278+14G>T (n.278+14G>T) n.379+14G>T c.86+14G>T (n.86+14G>T) n.506+14G>T n.332+14G>T | gnomAD v4 |
22 | g.19918846C= | CA2396103713 | TXNRD2 | c.374+14G= (n.374+14G=) c.284+14G= (n.284+14G=) c.371+14G= (n.371+14G=) c.305+14G= (n.305+14G=) c.317+14G= (n.317+14G=) c.278+14G= (n.278+14G=) n.379+14G= c.86+14G= (n.86+14G=) n.506+14G= n.332+14G= | |
22 | g.19918846C>T | CA10104246 | TXNRD2 | c.374+14G>A (n.374+14G>A) c.284+14G>A (n.284+14G>A) c.371+14G>A (n.371+14G>A) c.305+14G>A (n.305+14G>A) c.317+14G>A (n.317+14G>A) c.278+14G>A (n.278+14G>A) n.379+14G>A c.86+14G>A (n.86+14G>A) n.506+14G>A n.332+14G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918847G>A | CA10104247 | TXNRD2 | c.374+13C>T (n.374+13C>T) c.284+13C>T (n.284+13C>T) c.371+13C>T (n.371+13C>T) c.305+13C>T (n.305+13C>T) c.317+13C>T (n.317+13C>T) c.278+13C>T (n.278+13C>T) n.379+13C>T c.86+13C>T (n.86+13C>T) n.506+13C>T n.332+13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918847G= | CA2396103714 | TXNRD2 | c.374+13C= (n.374+13C=) c.284+13C= (n.284+13C=) c.371+13C= (n.371+13C=) c.305+13C= (n.305+13C=) c.317+13C= (n.317+13C=) c.278+13C= (n.278+13C=) n.379+13C= c.86+13C= (n.86+13C=) n.506+13C= n.332+13C= | |
22 | g.19918847G>T | CA2655329329 | TXNRD2 | c.374+13C>A (n.374+13C>A) c.284+13C>A (n.284+13C>A) c.371+13C>A (n.371+13C>A) c.305+13C>A (n.305+13C>A) c.317+13C>A (n.317+13C>A) c.278+13C>A (n.278+13C>A) n.379+13C>A c.86+13C>A (n.86+13C>A) n.506+13C>A n.332+13C>A | gnomAD v4 |
22 | g.19918848C>A | CA2655329331 | TXNRD2 | c.374+12G>T (n.374+12G>T) c.284+12G>T (n.284+12G>T) c.371+12G>T (n.371+12G>T) c.305+12G>T (n.305+12G>T) c.317+12G>T (n.317+12G>T) c.278+12G>T (n.278+12G>T) n.379+12G>T c.86+12G>T (n.86+12G>T) n.506+12G>T n.332+12G>T | gnomAD v4 |
22 | g.19918848C= | CA2396103715 | TXNRD2 | c.374+12G= (n.374+12G=) c.284+12G= (n.284+12G=) c.371+12G= (n.371+12G=) c.305+12G= (n.305+12G=) c.317+12G= (n.317+12G=) c.278+12G= (n.278+12G=) n.379+12G= c.86+12G= (n.86+12G=) n.506+12G= n.332+12G= | |
22 | g.19918848C>T | CA10104248 | TXNRD2 | c.374+12G>A (n.374+12G>A) c.284+12G>A (n.284+12G>A) c.371+12G>A (n.371+12G>A) c.305+12G>A (n.305+12G>A) c.317+12G>A (n.317+12G>A) c.278+12G>A (n.278+12G>A) n.379+12G>A c.86+12G>A (n.86+12G>A) n.506+12G>A n.332+12G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918849C>G | CA2842906884 | TXNRD2 | c.374+11G>C (n.374+11G>C) c.284+11G>C (n.284+11G>C) c.371+11G>C (n.371+11G>C) c.305+11G>C (n.305+11G>C) c.317+11G>C (n.317+11G>C) c.278+11G>C (n.278+11G>C) n.379+11G>C c.86+11G>C (n.86+11G>C) n.506+11G>C n.332+11G>C | |
22 | g.19918849C>T | CA2655329333 | TXNRD2 | c.374+11G>A (n.374+11G>A) c.284+11G>A (n.284+11G>A) c.371+11G>A (n.371+11G>A) c.305+11G>A (n.305+11G>A) c.317+11G>A (n.317+11G>A) c.278+11G>A (n.278+11G>A) n.379+11G>A c.86+11G>A (n.86+11G>A) n.506+11G>A n.332+11G>A | gnomAD v4 |
22 | g.19918850A>C | CA2577648398 | TXNRD2 | c.374+10T>G (n.374+10T>G) c.284+10T>G (n.284+10T>G) c.371+10T>G (n.371+10T>G) c.305+10T>G (n.305+10T>G) c.317+10T>G (n.317+10T>G) c.278+10T>G (n.278+10T>G) n.379+10T>G c.86+10T>G (n.86+10T>G) n.506+10T>G n.332+10T>G | gnomAD v4 |
22 | g.19918851G>A | CA2655329334 | TXNRD2 | c.374+9C>T (n.374+9C>T) c.284+9C>T (n.284+9C>T) c.371+9C>T (n.371+9C>T) c.305+9C>T (n.305+9C>T) c.317+9C>T (n.317+9C>T) c.278+9C>T (n.278+9C>T) n.379+9C>T c.86+9C>T (n.86+9C>T) n.506+9C>T n.332+9C>T | gnomAD v4 |
22 | g.19918851G>T | CA2655329335 | TXNRD2 | c.374+9C>A (n.374+9C>A) c.284+9C>A (n.284+9C>A) c.371+9C>A (n.371+9C>A) c.305+9C>A (n.305+9C>A) c.317+9C>A (n.317+9C>A) c.278+9C>A (n.278+9C>A) n.379+9C>A c.86+9C>A (n.86+9C>A) n.506+9C>A n.332+9C>A | gnomAD v4 |
22 | g.19918853T>A | CA2655329336 | TXNRD2 | c.374+7A>T (n.374+7A>T) c.284+7A>T (n.284+7A>T) c.371+7A>T (n.371+7A>T) c.305+7A>T (n.305+7A>T) c.317+7A>T (n.317+7A>T) c.278+7A>T (n.278+7A>T) n.379+7A>T c.86+7A>T (n.86+7A>T) n.506+7A>T n.332+7A>T | gnomAD v4 |
22 | g.19918854C>A | CA638367410 | TXNRD2 | c.374+6G>T (n.374+6G>T) c.284+6G>T (n.284+6G>T) c.371+6G>T (n.371+6G>T) c.305+6G>T (n.305+6G>T) c.317+6G>T (n.317+6G>T) c.278+6G>T (n.278+6G>T) n.379+6G>T c.86+6G>T (n.86+6G>T) n.506+6G>T n.332+6G>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918854C= | CA2396103716 | TXNRD2 | c.374+6G= (n.374+6G=) c.284+6G= (n.284+6G=) c.371+6G= (n.371+6G=) c.305+6G= (n.305+6G=) c.317+6G= (n.317+6G=) c.278+6G= (n.278+6G=) n.379+6G= c.86+6G= (n.86+6G=) n.506+6G= n.332+6G= | |
22 | g.19918854C>T | CA2818401267 | TXNRD2 | c.374+6G>A (n.374+6G>A) c.284+6G>A (n.284+6G>A) c.371+6G>A (n.371+6G>A) c.305+6G>A (n.305+6G>A) c.317+6G>A (n.317+6G>A) c.278+6G>A (n.278+6G>A) n.379+6G>A c.86+6G>A (n.86+6G>A) n.506+6G>A n.332+6G>A | |
22 | g.19918855C>A | CA2655329337 | TXNRD2 | c.374+5G>T (n.374+5G>T) c.284+5G>T (n.284+5G>T) c.371+5G>T (n.371+5G>T) c.305+5G>T (n.305+5G>T) c.317+5G>T (n.317+5G>T) c.278+5G>T (n.278+5G>T) n.379+5G>T c.86+5G>T (n.86+5G>T) n.506+5G>T n.332+5G>T | gnomAD v4 |
22 | g.19918858A= | CA2396103717 | TXNRD2 | c.374+2T= (n.374+2T=) c.284+2T= (n.284+2T=) c.371+2T= (n.371+2T=) c.305+2T= (n.305+2T=) c.317+2T= (n.317+2T=) c.278+2T= (n.278+2T=) n.379+2T= c.86+2T= (n.86+2T=) n.506+2T= n.332+2T= | |
22 | g.19918858A>C | CA410693620 | TXNRD2 | c.374+2T>G (n.374+2T>G) c.284+2T>G (n.284+2T>G) c.371+2T>G (n.371+2T>G) c.305+2T>G (n.305+2T>G) c.317+2T>G (n.317+2T>G) c.278+2T>G (n.278+2T>G) n.379+2T>G c.86+2T>G (n.86+2T>G) n.506+2T>G n.332+2T>G | dbSNP |
22 | g.19918858A>G | CA410693621 | TXNRD2 | c.374+2T>C (n.374+2T>C) c.284+2T>C (n.284+2T>C) c.371+2T>C (n.371+2T>C) c.305+2T>C (n.305+2T>C) c.317+2T>C (n.317+2T>C) c.278+2T>C (n.278+2T>C) n.379+2T>C c.86+2T>C (n.86+2T>C) n.506+2T>C n.332+2T>C | |
22 | g.19918858A>T | CA410693622 | TXNRD2 | c.374+2T>A (n.374+2T>A) c.284+2T>A (n.284+2T>A) c.371+2T>A (n.371+2T>A) c.305+2T>A (n.305+2T>A) c.317+2T>A (n.317+2T>A) c.278+2T>A (n.278+2T>A) n.379+2T>A c.86+2T>A (n.86+2T>A) n.506+2T>A n.332+2T>A | dbSNP |
22 | g.19918859C>A | CA410693623 | TXNRD2 | c.374+1G>T (n.374+1G>T) c.284+1G>T (n.284+1G>T) c.371+1G>T (n.371+1G>T) c.305+1G>T (n.305+1G>T) c.317+1G>T (n.317+1G>T) c.278+1G>T (n.278+1G>T) n.379+1G>T c.86+1G>T (n.86+1G>T) n.506+1G>T n.332+1G>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918859C= | CA2396103718 | TXNRD2 | c.374+1G= (n.374+1G=) c.284+1G= (n.284+1G=) c.371+1G= (n.371+1G=) c.305+1G= (n.305+1G=) c.317+1G= (n.317+1G=) c.278+1G= (n.278+1G=) n.379+1G= c.86+1G= (n.86+1G=) n.506+1G= n.332+1G= | |
22 | g.19918859C>G | CA410693624 | TXNRD2 | c.374+1G>C (n.374+1G>C) c.284+1G>C (n.284+1G>C) c.371+1G>C (n.371+1G>C) c.305+1G>C (n.305+1G>C) c.317+1G>C (n.317+1G>C) c.278+1G>C (n.278+1G>C) n.379+1G>C c.86+1G>C (n.86+1G>C) n.506+1G>C n.332+1G>C | |
22 | g.19918859C>T | CA410693625 | TXNRD2 | c.374+1G>A (n.374+1G>A) c.284+1G>A (n.284+1G>A) c.371+1G>A (n.371+1G>A) c.305+1G>A (n.305+1G>A) c.317+1G>A (n.317+1G>A) c.278+1G>A (n.278+1G>A) n.379+1G>A c.86+1G>A (n.86+1G>A) n.506+1G>A n.332+1G>A | dbSNP |
22 | g.19918860C>A | CA410693626 | TXNRD2 | c.374G>T (p.Trp125Leu) c.284G>T (p.Trp95Leu) c.371G>T (p.Trp124Leu) c.305G>T (p.Trp102Leu) c.317G>T (p.Trp106Leu) c.278G>T (p.Trp93Leu) n.379G>T c.86G>T (p.Trp29Leu) n.506G>T n.332G>T | gnomAD v4 |
22 | g.19918860C>G | CA410693627 | TXNRD2 | c.374G>C (p.Trp125Ser) c.284G>C (p.Trp95Ser) c.371G>C (p.Trp124Ser) c.305G>C (p.Trp102Ser) c.317G>C (p.Trp106Ser) c.278G>C (p.Trp93Ser) n.379G>C c.86G>C (p.Trp29Ser) n.506G>C n.332G>C | |
22 | g.19918860C>T | CA410693628 | TXNRD2 | c.374G>A (p.Trp125Ter) c.284G>A (p.Trp95Ter) c.371G>A (p.Trp124Ter) c.305G>A (p.Trp102Ter) c.317G>A (p.Trp106Ter) c.278G>A (p.Trp93Ter) n.379G>A c.86G>A (p.Trp29Ter) n.506G>A n.332G>A | gnomAD v4 |
22 | g.19918861A= | CA2396103719 | TXNRD2 | c.373T= (p.Trp125=) c.283T= (p.Trp95=) c.370T= (p.Trp124=) c.304T= (p.Trp102=) c.316T= (p.Trp106=) c.277T= (p.Trp93=) n.378T= c.85T= (p.Trp29=) n.505T= n.331T= | |
22 | g.19918861A>C | CA410693629 | TXNRD2 | c.373T>G (p.Trp125Gly) c.283T>G (p.Trp95Gly) c.370T>G (p.Trp124Gly) c.304T>G (p.Trp102Gly) c.316T>G (p.Trp106Gly) c.277T>G (p.Trp93Gly) n.378T>G c.85T>G (p.Trp29Gly) n.505T>G n.331T>G | |
22 | g.19918861A>G | CA10104249 | TXNRD2 | c.373T>C (p.Trp125Arg) c.283T>C (p.Trp95Arg) c.370T>C (p.Trp124Arg) c.304T>C (p.Trp102Arg) c.316T>C (p.Trp106Arg) c.277T>C (p.Trp93Arg) n.378T>C c.85T>C (p.Trp29Arg) n.505T>C n.331T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918861A>T | CA410693630 | TXNRD2 | c.373T>A (p.Trp125Arg) c.283T>A (p.Trp95Arg) c.370T>A (p.Trp124Arg) c.304T>A (p.Trp102Arg) c.316T>A (p.Trp106Arg) c.277T>A (p.Trp93Arg) n.378T>A c.85T>A (p.Trp29Arg) n.505T>A n.331T>A | |
22 | g.19918862G>A | CA513369023 | TXNRD2 | c.372C>T (p.Asp124=) c.282C>T (p.Asp94=) c.369C>T (p.Asp123=) c.303C>T (p.Asp101=) c.315C>T (p.Asp105=) c.276C>T (p.Asp92=) n.377C>T c.84C>T (p.Asp28=) n.504C>T n.330C>T | |
22 | g.19918862G>C | CA410693631 | TXNRD2 | c.372C>G (p.Asp124Glu) c.282C>G (p.Asp94Glu) c.369C>G (p.Asp123Glu) c.303C>G (p.Asp101Glu) c.315C>G (p.Asp105Glu) c.276C>G (p.Asp92Glu) n.377C>G c.84C>G (p.Asp28Glu) n.504C>G n.330C>G | |
22 | g.19918862G>T | CA410693632 | TXNRD2 | c.372C>A (p.Asp124Glu) c.282C>A (p.Asp94Glu) c.369C>A (p.Asp123Glu) c.303C>A (p.Asp101Glu) c.315C>A (p.Asp105Glu) c.276C>A (p.Asp92Glu) n.377C>A c.84C>A (p.Asp28Glu) n.504C>A n.330C>A | gnomAD v4 |
22 | g.19918863T>A | CA410693633 | TXNRD2 | c.371A>T (p.Asp124Val) c.281A>T (p.Asp94Val) c.368A>T (p.Asp123Val) c.302A>T (p.Asp101Val) c.314A>T (p.Asp105Val) c.275A>T (p.Asp92Val) n.376A>T c.83A>T (p.Asp28Val) n.503A>T n.329A>T | |
22 | g.19918863T>C | CA10104250 | TXNRD2 | c.371A>G (p.Asp124Gly) c.281A>G (p.Asp94Gly) c.368A>G (p.Asp123Gly) c.302A>G (p.Asp101Gly) c.314A>G (p.Asp105Gly) c.275A>G (p.Asp92Gly) n.376A>G c.83A>G (p.Asp28Gly) n.503A>G n.329A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918863T>G | CA410693634 | TXNRD2 | c.371A>C (p.Asp124Ala) c.281A>C (p.Asp94Ala) c.368A>C (p.Asp123Ala) c.302A>C (p.Asp101Ala) c.314A>C (p.Asp105Ala) c.275A>C (p.Asp92Ala) n.376A>C c.83A>C (p.Asp28Ala) n.503A>C n.329A>C | |
22 | g.19918863T= | CA2396103720 | TXNRD2 | c.371A= (p.Asp124=) c.281A= (p.Asp94=) c.368A= (p.Asp123=) c.302A= (p.Asp101=) c.314A= (p.Asp105=) c.275A= (p.Asp92=) n.376A= c.83A= (p.Asp28=) n.503A= n.329A= | |
22 | g.19918864C>A | CA410693635 | TXNRD2 | c.370G>T (p.Asp124Tyr) c.280G>T (p.Asp94Tyr) c.367G>T (p.Asp123Tyr) c.301G>T (p.Asp101Tyr) c.313G>T (p.Asp105Tyr) c.274G>T (p.Asp92Tyr) n.375G>T c.82G>T (p.Asp28Tyr) n.502G>T n.328G>T | gnomAD v4 |
22 | g.19918864C>G | CA410693636 | TXNRD2 | c.370G>C (p.Asp124His) c.280G>C (p.Asp94His) c.367G>C (p.Asp123His) c.301G>C (p.Asp101His) c.313G>C (p.Asp105His) c.274G>C (p.Asp92His) n.375G>C c.82G>C (p.Asp28His) n.502G>C n.328G>C | |
22 | g.19918864C>T | CA410693637 | TXNRD2 | c.370G>A (p.Asp124Asn) c.280G>A (p.Asp94Asn) c.367G>A (p.Asp123Asn) c.301G>A (p.Asp101Asn) c.313G>A (p.Asp105Asn) c.274G>A (p.Asp92Asn) n.375G>A c.82G>A (p.Asp28Asn) n.502G>A n.328G>A | gnomAD v4 |
22 | g.19918864dup | CA2842906885 | TXNRD2 | c.370dup (p.Asp124GlyfsTer?) c.280dup (p.Asp94GlyfsTer?) c.367dup (p.Asp123GlyfsTer?) c.301dup (p.Asp101GlyfsTer?) c.313dup (p.Asp105GlyfsTer?) c.274dup (p.Asp92GlyfsTer?) n.375dup c.82dup (p.Asp28GlyfsTer?) n.502dup n.328dup | |
22 | g.19918865A>C | CA410693638 | TXNRD2 | c.369T>G (p.His123Gln) c.279T>G (p.His93Gln) c.366T>G (p.His122Gln) c.300T>G (p.His100Gln) c.312T>G (p.His104Gln) c.273T>G (p.His91Gln) n.374T>G c.81T>G (p.His27Gln) n.501T>G n.327T>G | |
22 | g.19918865A>G | CA513369027 | TXNRD2 | c.369T>C (p.His123=) c.279T>C (p.His93=) c.366T>C (p.His122=) c.300T>C (p.His100=) c.312T>C (p.His104=) c.273T>C (p.His91=) n.374T>C c.81T>C (p.His27=) n.501T>C n.327T>C | |
22 | g.19918865A>T | CA410693639 | TXNRD2 | c.369T>A (p.His123Gln) c.279T>A (p.His93Gln) c.366T>A (p.His122Gln) c.300T>A (p.His100Gln) c.312T>A (p.His104Gln) c.273T>A (p.His91Gln) n.374T>A c.81T>A (p.His27Gln) n.501T>A n.327T>A | |
22 | g.19918865dup | CA2842906886 | TXNRD2 | c.369dup (p.Asp124Ter) c.279dup (p.Asp94Ter) c.366dup (p.Asp123Ter) c.300dup (p.Asp101Ter) c.312dup (p.Asp105Ter) c.273dup (p.Asp92Ter) n.374dup c.81dup (p.Asp28Ter) n.501dup n.327dup | |
22 | g.19918866T>A | CA410693640 | TXNRD2 | c.368A>T (p.His123Leu) c.278A>T (p.His93Leu) c.365A>T (p.His122Leu) c.299A>T (p.His100Leu) c.311A>T (p.His104Leu) c.272A>T (p.His91Leu) n.373A>T c.80A>T (p.His27Leu) n.500A>T n.326A>T | |
22 | g.19918866T>C | CA410693641 | TXNRD2 | c.368A>G (p.His123Arg) c.278A>G (p.His93Arg) c.365A>G (p.His122Arg) c.299A>G (p.His100Arg) c.311A>G (p.His104Arg) c.272A>G (p.His91Arg) n.373A>G c.80A>G (p.His27Arg) n.500A>G n.326A>G | |
22 | g.19918866T>G | CA410693642 | TXNRD2 | c.368A>C (p.His123Pro) c.278A>C (p.His93Pro) c.365A>C (p.His122Pro) c.299A>C (p.His100Pro) c.311A>C (p.His104Pro) c.272A>C (p.His91Pro) n.373A>C c.80A>C (p.His27Pro) n.500A>C n.326A>C | |
22 | g.19918867G>A | CA410693644 | TXNRD2 | c.367C>T (p.His123Tyr) c.277C>T (p.His93Tyr) c.364C>T (p.His122Tyr) c.298C>T (p.His100Tyr) c.310C>T (p.His104Tyr) c.271C>T (p.His91Tyr) n.372C>T c.79C>T (p.His27Tyr) n.499C>T n.325C>T | gnomAD v4 |
22 | g.19918867G>C | CA410693645 | TXNRD2 | c.367C>G (p.His123Asp) c.277C>G (p.His93Asp) c.364C>G (p.His122Asp) c.298C>G (p.His100Asp) c.310C>G (p.His104Asp) c.271C>G (p.His91Asp) n.372C>G c.79C>G (p.His27Asp) n.499C>G n.325C>G | |
22 | g.19918867G>T | CA410693643 | TXNRD2 | c.367C>A (p.His123Asn) c.277C>A (p.His93Asn) c.364C>A (p.His122Asn) c.298C>A (p.His100Asn) c.310C>A (p.His104Asn) c.271C>A (p.His91Asn) n.372C>A c.79C>A (p.His27Asn) n.499C>A n.325C>A | gnomAD v4 |
22 | g.19918868C>A | CA513369032 | TXNRD2 | c.366G>T (p.Pro122=) c.276G>T (p.Pro92=) c.363G>T (p.Pro121=) c.297G>T (p.Pro99=) c.309G>T (p.Pro103=) c.270G>T (p.Pro90=) n.371G>T c.78G>T (p.Pro26=) n.498G>T n.324G>T | ClinVar dbSNP gnomAD v4 |
22 | g.19918868C= | CA2396103721 | TXNRD2 | c.366G= (p.Pro122=) c.276G= (p.Pro92=) c.363G= (p.Pro121=) c.297G= (p.Pro99=) c.309G= (p.Pro103=) c.270G= (p.Pro90=) n.371G= c.78G= (p.Pro26=) n.498G= n.324G= | |
22 | g.19918868C>G | CA513369031 | TXNRD2 | c.366G>C (p.Pro122=) c.276G>C (p.Pro92=) c.363G>C (p.Pro121=) c.297G>C (p.Pro99=) c.309G>C (p.Pro103=) c.270G>C (p.Pro90=) n.371G>C c.78G>C (p.Pro26=) n.498G>C n.324G>C | |
22 | g.19918868C>T | CA10104251 | TXNRD2 | c.366G>A (p.Pro122=) c.276G>A (p.Pro92=) c.363G>A (p.Pro121=) c.297G>A (p.Pro99=) c.309G>A (p.Pro103=) c.270G>A (p.Pro90=) n.371G>A c.78G>A (p.Pro26=) n.498G>A n.324G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918869G>A | CA10104252 | TXNRD2 | c.365C>T (p.Pro122Leu) c.275C>T (p.Pro92Leu) c.362C>T (p.Pro121Leu) c.296C>T (p.Pro99Leu) c.308C>T (p.Pro103Leu) c.269C>T (p.Pro90Leu) n.370C>T c.77C>T (p.Pro26Leu) n.497C>T n.323C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918869G>C | CA410693647 | TXNRD2 | c.365C>G (p.Pro122Arg) c.275C>G (p.Pro92Arg) c.362C>G (p.Pro121Arg) c.296C>G (p.Pro99Arg) c.308C>G (p.Pro103Arg) c.269C>G (p.Pro90Arg) n.370C>G c.77C>G (p.Pro26Arg) n.497C>G n.323C>G | |
22 | g.19918869G= | CA2396103722 | TXNRD2 | c.365C= (p.Pro122=) c.275C= (p.Pro92=) c.362C= (p.Pro121=) c.296C= (p.Pro99=) c.308C= (p.Pro103=) c.269C= (p.Pro90=) n.370C= c.77C= (p.Pro26=) n.497C= n.323C= | |
22 | g.19918869G>T | CA410693648 | TXNRD2 | c.365C>A (p.Pro122Gln) c.275C>A (p.Pro92Gln) c.362C>A (p.Pro121Gln) c.296C>A (p.Pro99Gln) c.308C>A (p.Pro103Gln) c.269C>A (p.Pro90Gln) n.370C>A c.77C>A (p.Pro26Gln) n.497C>A n.323C>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918870G>A | CA410693649 | TXNRD2 | c.364C>T (p.Pro122Ser) c.274C>T (p.Pro92Ser) c.361C>T (p.Pro121Ser) c.295C>T (p.Pro99Ser) c.307C>T (p.Pro103Ser) c.268C>T (p.Pro90Ser) n.369C>T c.76C>T (p.Pro26Ser) n.496C>T n.322C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918870G>C | CA410693650 | TXNRD2 | c.364C>G (p.Pro122Ala) c.274C>G (p.Pro92Ala) c.361C>G (p.Pro121Ala) c.295C>G (p.Pro99Ala) c.307C>G (p.Pro103Ala) c.268C>G (p.Pro90Ala) n.369C>G c.76C>G (p.Pro26Ala) n.496C>G n.322C>G | ClinVar |
22 | g.19918870G= | CA2396103723 | TXNRD2 | c.364C= (p.Pro122=) c.274C= (p.Pro92=) c.361C= (p.Pro121=) c.295C= (p.Pro99=) c.307C= (p.Pro103=) c.268C= (p.Pro90=) n.369C= c.76C= (p.Pro26=) n.496C= n.322C= | |
22 | g.19918870G>T | CA410693651 | TXNRD2 | c.364C>A (p.Pro122Thr) c.274C>A (p.Pro92Thr) c.361C>A (p.Pro121Thr) c.295C>A (p.Pro99Thr) c.307C>A (p.Pro103Thr) c.268C>A (p.Pro90Thr) n.369C>A c.76C>A (p.Pro26Thr) n.496C>A n.322C>A | ClinVar gnomAD v4 |
22 | g.19918871C>A | CA513369037 | TXNRD2 | c.363G>T (p.Val121=) c.273G>T (p.Val91=) c.360G>T (p.Val120=) c.294G>T (p.Val98=) c.306G>T (p.Val102=) c.267G>T (p.Val89=) n.368G>T c.75G>T (p.Val25=) n.495G>T n.321G>T | |
22 | g.19918871C>G | CA513369036 | TXNRD2 | c.363G>C (p.Val121=) c.273G>C (p.Val91=) c.360G>C (p.Val120=) c.294G>C (p.Val98=) c.306G>C (p.Val102=) c.267G>C (p.Val89=) n.368G>C c.75G>C (p.Val25=) n.495G>C n.321G>C | |
22 | g.19918871C>T | CA513369034 | TXNRD2 | c.363G>A (p.Val121=) c.273G>A (p.Val91=) c.360G>A (p.Val120=) c.294G>A (p.Val98=) c.306G>A (p.Val102=) c.267G>A (p.Val89=) n.368G>A c.75G>A (p.Val25=) n.495G>A n.321G>A | gnomAD v4 |
22 | g.19918872A>C | CA410693652 | TXNRD2 | c.362T>G (p.Val121Gly) c.272T>G (p.Val91Gly) c.359T>G (p.Val120Gly) c.293T>G (p.Val98Gly) c.305T>G (p.Val102Gly) c.266T>G (p.Val89Gly) n.367T>G c.74T>G (p.Val25Gly) n.494T>G n.320T>G | |
22 | g.19918872A>G | CA410693654 | TXNRD2 | c.362T>C (p.Val121Ala) c.272T>C (p.Val91Ala) c.359T>C (p.Val120Ala) c.293T>C (p.Val98Ala) c.305T>C (p.Val102Ala) c.266T>C (p.Val89Ala) n.367T>C c.74T>C (p.Val25Ala) n.494T>C n.320T>C | gnomAD v4 |
22 | g.19918872A>T | CA410693653 | TXNRD2 | c.362T>A (p.Val121Glu) c.272T>A (p.Val91Glu) c.359T>A (p.Val120Glu) c.293T>A (p.Val98Glu) c.305T>A (p.Val102Glu) c.266T>A (p.Val89Glu) n.367T>A c.74T>A (p.Val25Glu) n.494T>A n.320T>A | |
22 | g.19918873C>A | CA410693655 | TXNRD2 | c.361G>T (p.Val121Leu) c.271G>T (p.Val91Leu) c.358G>T (p.Val120Leu) c.292G>T (p.Val98Leu) c.304G>T (p.Val102Leu) c.265G>T (p.Val89Leu) n.366G>T c.73G>T (p.Val25Leu) n.493G>T n.319G>T | |
22 | g.19918873C= | CA2396103724 | TXNRD2 | c.361G= (p.Val121=) c.271G= (p.Val91=) c.358G= (p.Val120=) c.292G= (p.Val98=) c.304G= (p.Val102=) c.265G= (p.Val89=) n.366G= c.73G= (p.Val25=) n.493G= n.319G= | |
22 | g.19918873C>G | CA410693656 | TXNRD2 | c.361G>C (p.Val121Leu) c.271G>C (p.Val91Leu) c.358G>C (p.Val120Leu) c.292G>C (p.Val98Leu) c.304G>C (p.Val102Leu) c.265G>C (p.Val89Leu) n.366G>C c.73G>C (p.Val25Leu) n.493G>C n.319G>C | |
22 | g.19918873C>T | CA10104253 | TXNRD2 | c.361G>A (p.Val121Met) c.271G>A (p.Val91Met) c.358G>A (p.Val120Met) c.292G>A (p.Val98Met) c.304G>A (p.Val102Met) c.265G>A (p.Val89Met) n.366G>A c.73G>A (p.Val25Met) n.493G>A n.319G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918874G>A | CA10104254 | TXNRD2 | c.360C>T (p.Pro120=) c.270C>T (p.Pro90=) c.357C>T (p.Pro119=) c.291C>T (p.Pro97=) c.303C>T (p.Pro101=) c.264C>T (p.Pro88=) n.365C>T c.72C>T (p.Pro24=) n.492C>T n.318C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918874G>C | CA513369042 | TXNRD2 | c.360C>G (p.Pro120=) c.270C>G (p.Pro90=) c.357C>G (p.Pro119=) c.291C>G (p.Pro97=) c.303C>G (p.Pro101=) c.264C>G (p.Pro88=) n.365C>G c.72C>G (p.Pro24=) n.492C>G n.318C>G | |
22 | g.19918874G= | CA2396103725 | TXNRD2 | c.360C= (p.Pro120=) c.270C= (p.Pro90=) c.357C= (p.Pro119=) c.291C= (p.Pro97=) c.303C= (p.Pro101=) c.264C= (p.Pro88=) n.365C= c.72C= (p.Pro24=) n.492C= n.318C= | |
22 | g.19918874G>T | CA513369041 | TXNRD2 | c.360C>A (p.Pro120=) c.270C>A (p.Pro90=) c.357C>A (p.Pro119=) c.291C>A (p.Pro97=) c.303C>A (p.Pro101=) c.264C>A (p.Pro88=) n.365C>A c.72C>A (p.Pro24=) n.492C>A n.318C>A | gnomAD v4 |
22 | g.19918875G>A | CA410693659 | TXNRD2 | c.359C>T (p.Pro120Leu) c.269C>T (p.Pro90Leu) c.356C>T (p.Pro119Leu) c.290C>T (p.Pro97Leu) c.302C>T (p.Pro101Leu) c.263C>T (p.Pro88Leu) n.364C>T c.71C>T (p.Pro24Leu) n.491C>T n.317C>T | COSMIC COSMIC |
22 | g.19918875G>C | CA410693662 | TXNRD2 | c.359C>G (p.Pro120Arg) c.269C>G (p.Pro90Arg) c.356C>G (p.Pro119Arg) c.290C>G (p.Pro97Arg) c.302C>G (p.Pro101Arg) c.263C>G (p.Pro88Arg) n.364C>G c.71C>G (p.Pro24Arg) n.491C>G n.317C>G | gnomAD v4 |
22 | g.19918875G>T | CA410693661 | TXNRD2 | c.359C>A (p.Pro120His) c.269C>A (p.Pro90His) c.356C>A (p.Pro119His) c.290C>A (p.Pro97His) c.302C>A (p.Pro101His) c.263C>A (p.Pro88His) n.364C>A c.71C>A (p.Pro24His) n.491C>A n.317C>A | gnomAD v4 |
22 | g.19918876G>A | CA10104255 | TXNRD2 | c.358C>T (p.Pro120Ser) c.268C>T (p.Pro90Ser) c.355C>T (p.Pro119Ser) c.289C>T (p.Pro97Ser) c.301C>T (p.Pro101Ser) c.262C>T (p.Pro88Ser) n.363C>T c.70C>T (p.Pro24Ser) n.490C>T n.316C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918876G>C | CA410693664 | TXNRD2 | c.358C>G (p.Pro120Ala) c.268C>G (p.Pro90Ala) c.355C>G (p.Pro119Ala) c.289C>G (p.Pro97Ala) c.301C>G (p.Pro101Ala) c.262C>G (p.Pro88Ala) n.363C>G c.70C>G (p.Pro24Ala) n.490C>G n.316C>G | |
22 | g.19918876G= | CA2396103726 | TXNRD2 | c.358C= (p.Pro120=) c.268C= (p.Pro90=) c.355C= (p.Pro119=) c.289C= (p.Pro97=) c.301C= (p.Pro101=) c.262C= (p.Pro88=) n.363C= c.70C= (p.Pro24=) n.490C= n.316C= | |
22 | g.19918876G>T | CA410693666 | TXNRD2 | c.358C>A (p.Pro120Thr) c.268C>A (p.Pro90Thr) c.355C>A (p.Pro119Thr) c.289C>A (p.Pro97Thr) c.301C>A (p.Pro101Thr) c.262C>A (p.Pro88Thr) n.363C>A c.70C>A (p.Pro24Thr) n.490C>A n.316C>A | gnomAD v4 |
22 | g.19918877C>A | CA410693668 | TXNRD2 | c.357G>T (p.Gln119His) c.267G>T (p.Gln89His) c.354G>T (p.Gln118His) c.288G>T (p.Gln96His) c.300G>T (p.Gln100His) c.261G>T (p.Gln87His) n.362G>T c.69G>T (p.Gln23His) n.489G>T n.315G>T | gnomAD v4 |
22 | g.19918877C= | CA2396103727 | TXNRD2 | c.357G= (p.Gln119=) c.267G= (p.Gln89=) c.354G= (p.Gln118=) c.288G= (p.Gln96=) c.300G= (p.Gln100=) c.261G= (p.Gln87=) n.362G= c.69G= (p.Gln23=) n.489G= n.315G= | |
22 | g.19918877C>G | CA410693669 | TXNRD2 | c.357G>C (p.Gln119His) c.267G>C (p.Gln89His) c.354G>C (p.Gln118His) c.288G>C (p.Gln96His) c.300G>C (p.Gln100His) c.261G>C (p.Gln87His) n.362G>C c.69G>C (p.Gln23His) n.489G>C n.315G>C | |
22 | g.19918877C>T | CA513369044 | TXNRD2 | c.357G>A (p.Gln119=) c.267G>A (p.Gln89=) c.354G>A (p.Gln118=) c.288G>A (p.Gln96=) c.300G>A (p.Gln100=) c.261G>A (p.Gln87=) n.362G>A c.69G>A (p.Gln23=) n.489G>A n.315G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918878T>A | CA410693671 | TXNRD2 | c.356A>T (p.Gln119Leu) c.266A>T (p.Gln89Leu) c.353A>T (p.Gln118Leu) c.287A>T (p.Gln96Leu) c.299A>T (p.Gln100Leu) c.260A>T (p.Gln87Leu) n.361A>T c.68A>T (p.Gln23Leu) n.488A>T n.314A>T | |
22 | g.19918878T>C | CA410693673 | TXNRD2 | c.356A>G (p.Gln119Arg) c.266A>G (p.Gln89Arg) c.353A>G (p.Gln118Arg) c.287A>G (p.Gln96Arg) c.299A>G (p.Gln100Arg) c.260A>G (p.Gln87Arg) n.361A>G c.68A>G (p.Gln23Arg) n.488A>G n.314A>G | |
22 | g.19918878T>G | CA410693674 | TXNRD2 | c.356A>C (p.Gln119Pro) c.266A>C (p.Gln89Pro) c.353A>C (p.Gln118Pro) c.287A>C (p.Gln96Pro) c.299A>C (p.Gln100Pro) c.260A>C (p.Gln87Pro) n.361A>C c.68A>C (p.Gln23Pro) n.488A>C n.314A>C | dbSNP |
22 | g.19918878T= | CA2396103728 | TXNRD2 | c.356A= (p.Gln119=) c.266A= (p.Gln89=) c.353A= (p.Gln118=) c.287A= (p.Gln96=) c.299A= (p.Gln100=) c.260A= (p.Gln87=) n.361A= c.68A= (p.Gln23=) n.488A= n.314A= | |
22 | g.19918879G>A | CA410693676 | TXNRD2 | c.355C>T (p.Gln119Ter) c.265C>T (p.Gln89Ter) c.352C>T (p.Gln118Ter) c.286C>T (p.Gln96Ter) c.298C>T (p.Gln100Ter) c.259C>T (p.Gln87Ter) n.360C>T c.67C>T (p.Gln23Ter) n.487C>T n.313C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918879G>C | CA10104256 | TXNRD2 | c.355C>G (p.Gln119Glu) c.265C>G (p.Gln89Glu) c.352C>G (p.Gln118Glu) c.286C>G (p.Gln96Glu) c.298C>G (p.Gln100Glu) c.259C>G (p.Gln87Glu) n.360C>G c.67C>G (p.Gln23Glu) n.487C>G n.313C>G | dbSNP ExAC gnomAD v2 |
22 | g.19918879G= | CA2396103729 | TXNRD2 | c.355C= (p.Gln119=) c.265C= (p.Gln89=) c.352C= (p.Gln118=) c.286C= (p.Gln96=) c.298C= (p.Gln100=) c.259C= (p.Gln87=) n.360C= c.67C= (p.Gln23=) n.487C= n.313C= | |
22 | g.19918879G>T | CA410693678 | TXNRD2 | c.355C>A (p.Gln119Lys) c.265C>A (p.Gln89Lys) c.352C>A (p.Gln118Lys) c.286C>A (p.Gln96Lys) c.298C>A (p.Gln100Lys) c.259C>A (p.Gln87Lys) n.360C>A c.67C>A (p.Gln23Lys) n.487C>A n.313C>A | |
22 | g.19918881del | CA2655329349 | TXNRD2 | c.355del (p.Gln119SerfsTer18) c.265del (p.Gln89SerfsTer18) c.352del (p.Gln118SerfsTer18) c.286del (p.Gln96SerfsTer18) c.298del (p.Gln100SerfsTer18) c.259del (p.Gln87SerfsTer18) n.360del c.67del (p.Gln23SerfsTer18) n.487del n.313del | gnomAD v4 |
22 | g.19918880G>A | CA513369047 | TXNRD2 | c.354C>T (p.Ala118=) c.264C>T (p.Ala88=) c.351C>T (p.Ala117=) c.285C>T (p.Ala95=) c.297C>T (p.Ala99=) c.258C>T (p.Ala86=) n.359C>T c.66C>T (p.Ala22=) n.486C>T n.312C>T | gnomAD v4 |
22 | g.19918880G>C | CA513369046 | TXNRD2 | c.354C>G (p.Ala118=) c.264C>G (p.Ala88=) c.351C>G (p.Ala117=) c.285C>G (p.Ala95=) c.297C>G (p.Ala99=) c.258C>G (p.Ala86=) n.359C>G c.66C>G (p.Ala22=) n.486C>G n.312C>G | |
22 | g.19918880G>T | CA513369045 | TXNRD2 | c.354C>A (p.Ala118=) c.264C>A (p.Ala88=) c.351C>A (p.Ala117=) c.285C>A (p.Ala95=) c.297C>A (p.Ala99=) c.258C>A (p.Ala86=) n.359C>A c.66C>A (p.Ala22=) n.486C>A n.312C>A | gnomAD v4 |
22 | g.19918881G>A | CA410693682 | TXNRD2 | c.353C>T (p.Ala118Val) c.263C>T (p.Ala88Val) c.350C>T (p.Ala117Val) c.284C>T (p.Ala95Val) c.296C>T (p.Ala99Val) c.257C>T (p.Ala86Val) n.358C>T c.65C>T (p.Ala22Val) n.485C>T n.311C>T | gnomAD v4 |
22 | g.19918881G>C | CA10104257 | TXNRD2 | c.353C>G (p.Ala118Gly) c.263C>G (p.Ala88Gly) c.350C>G (p.Ala117Gly) c.284C>G (p.Ala95Gly) c.296C>G (p.Ala99Gly) c.257C>G (p.Ala86Gly) n.358C>G c.65C>G (p.Ala22Gly) n.485C>G n.311C>G | dbSNP ExAC |
22 | g.19918881G= | CA2396103730 | TXNRD2 | c.353C= (p.Ala118=) c.263C= (p.Ala88=) c.350C= (p.Ala117=) c.284C= (p.Ala95=) c.296C= (p.Ala99=) c.257C= (p.Ala86=) n.358C= c.65C= (p.Ala22=) n.485C= n.311C= | |
22 | g.19918881G>T | CA410693680 | TXNRD2 | c.353C>A (p.Ala118Asp) c.263C>A (p.Ala88Asp) c.350C>A (p.Ala117Asp) c.284C>A (p.Ala95Asp) c.296C>A (p.Ala99Asp) c.257C>A (p.Ala86Asp) n.358C>A c.65C>A (p.Ala22Asp) n.485C>A n.311C>A | |
22 | g.19918882C>A | CA410693684 | TXNRD2 | c.352G>T (p.Ala118Ser) c.262G>T (p.Ala88Ser) c.349G>T (p.Ala117Ser) c.283G>T (p.Ala95Ser) c.295G>T (p.Ala99Ser) c.256G>T (p.Ala86Ser) n.357G>T c.64G>T (p.Ala22Ser) n.484G>T n.310G>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918882C= | CA2396103731 | TXNRD2 | c.352G= (p.Ala118=) c.262G= (p.Ala88=) c.349G= (p.Ala117=) c.283G= (p.Ala95=) c.295G= (p.Ala99=) c.256G= (p.Ala86=) n.357G= c.64G= (p.Ala22=) n.484G= n.310G= | |
22 | g.19918882C>G | CA10104258 | TXNRD2 | c.352G>C (p.Ala118Pro) c.262G>C (p.Ala88Pro) c.349G>C (p.Ala117Pro) c.283G>C (p.Ala95Pro) c.295G>C (p.Ala99Pro) c.256G>C (p.Ala86Pro) n.357G>C c.64G>C (p.Ala22Pro) n.484G>C n.310G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918882C>T | CA410693685 | TXNRD2 | c.352G>A (p.Ala118Thr) c.262G>A (p.Ala88Thr) c.349G>A (p.Ala117Thr) c.283G>A (p.Ala95Thr) c.295G>A (p.Ala99Thr) c.256G>A (p.Ala86Thr) n.357G>A c.64G>A (p.Ala22Thr) n.484G>A n.310G>A | gnomAD v4 |
22 | g.19918883dup | CA2842906887 | TXNRD2 | c.352dup (p.Ala118GlyfsTer7) c.262dup (p.Ala88GlyfsTer7) c.349dup (p.Ala117GlyfsTer7) c.283dup (p.Ala95GlyfsTer7) c.295dup (p.Ala99GlyfsTer7) c.256dup (p.Ala86GlyfsTer7) n.357dup c.64dup (p.Ala22GlyfsTer7) n.484dup n.310dup | |
22 | g.19918883C>A | CA513369050 | TXNRD2 | c.351G>T (p.Val117=) c.261G>T (p.Val87=) c.348G>T (p.Val116=) c.282G>T (p.Val94=) c.294G>T (p.Val98=) c.255G>T (p.Val85=) n.356G>T c.63G>T (p.Val21=) n.483G>T n.309G>T | |
22 | g.19918883C= | CA2396103732 | TXNRD2 | c.351G= (p.Val117=) c.261G= (p.Val87=) c.348G= (p.Val116=) c.282G= (p.Val94=) c.294G= (p.Val98=) c.255G= (p.Val85=) n.356G= c.63G= (p.Val21=) n.483G= n.309G= | |
22 | g.19918883C>G | CA513369049 | TXNRD2 | c.351G>C (p.Val117=) c.261G>C (p.Val87=) c.348G>C (p.Val116=) c.282G>C (p.Val94=) c.294G>C (p.Val98=) c.255G>C (p.Val85=) n.356G>C c.63G>C (p.Val21=) n.483G>C n.309G>C | |
22 | g.19918883C>T | CA513369048 | TXNRD2 | c.351G>A (p.Val117=) c.261G>A (p.Val87=) c.348G>A (p.Val116=) c.282G>A (p.Val94=) c.294G>A (p.Val98=) c.255G>A (p.Val85=) n.356G>A c.63G>A (p.Val21=) n.483G>A n.309G>A | dbSNP |
22 | g.19918884A= | CA2396103733 | TXNRD2 | c.350T= (p.Val117=) c.260T= (p.Val87=) c.347T= (p.Val116=) c.281T= (p.Val94=) c.293T= (p.Val98=) c.254T= (p.Val85=) n.355T= c.62T= (p.Val21=) n.482T= n.308T= | |
22 | g.19918884A>C | CA10104259 | TXNRD2 | c.350T>G (p.Val117Gly) c.260T>G (p.Val87Gly) c.347T>G (p.Val116Gly) c.281T>G (p.Val94Gly) c.293T>G (p.Val98Gly) c.254T>G (p.Val85Gly) n.355T>G c.62T>G (p.Val21Gly) n.482T>G n.308T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918884A>G | CA410693688 | TXNRD2 | c.350T>C (p.Val117Ala) c.260T>C (p.Val87Ala) c.347T>C (p.Val116Ala) c.281T>C (p.Val94Ala) c.293T>C (p.Val98Ala) c.254T>C (p.Val85Ala) n.355T>C c.62T>C (p.Val21Ala) n.482T>C n.308T>C | ClinVar dbSNP |
22 | g.19918884A>T | CA410693690 | TXNRD2 | c.350T>A (p.Val117Glu) c.260T>A (p.Val87Glu) c.347T>A (p.Val116Glu) c.281T>A (p.Val94Glu) c.293T>A (p.Val98Glu) c.254T>A (p.Val85Glu) n.355T>A c.62T>A (p.Val21Glu) n.482T>A n.308T>A | |
22 | g.19918885C>A | CA410693692 | TXNRD2 | c.349G>T (p.Val117Leu) c.259G>T (p.Val87Leu) c.346G>T (p.Val116Leu) c.280G>T (p.Val94Leu) c.292G>T (p.Val98Leu) c.253G>T (p.Val85Leu) n.354G>T c.61G>T (p.Val21Leu) n.481G>T n.307G>T | dbSNP gnomAD v2 |
22 | g.19918885C= | CA2396103734 | TXNRD2 | c.349G= (p.Val117=) c.259G= (p.Val87=) c.346G= (p.Val116=) c.280G= (p.Val94=) c.292G= (p.Val98=) c.253G= (p.Val85=) n.354G= c.61G= (p.Val21=) n.481G= n.307G= | |
22 | g.19918885C>G | CA410693693 | TXNRD2 | c.349G>C (p.Val117Leu) c.259G>C (p.Val87Leu) c.346G>C (p.Val116Leu) c.280G>C (p.Val94Leu) c.292G>C (p.Val98Leu) c.253G>C (p.Val85Leu) n.354G>C c.61G>C (p.Val21Leu) n.481G>C n.307G>C | |
22 | g.19918885C>T | CA410693695 | TXNRD2 | c.349G>A (p.Val117Met) c.259G>A (p.Val87Met) c.346G>A (p.Val116Met) c.280G>A (p.Val94Met) c.292G>A (p.Val98Met) c.253G>A (p.Val85Met) n.354G>A c.61G>A (p.Val21Met) n.481G>A n.307G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918886C>A | CA410693697 | TXNRD2 | c.348G>T (p.Glu116Asp) c.258G>T (p.Glu86Asp) c.345G>T (p.Glu115Asp) c.279G>T (p.Glu93Asp) c.291G>T (p.Glu97Asp) c.252G>T (p.Glu84Asp) n.353G>T c.60G>T (p.Glu20Asp) n.480G>T n.306G>T | |
22 | g.19918886C>G | CA410693698 | TXNRD2 | c.348G>C (p.Glu116Asp) c.258G>C (p.Glu86Asp) c.345G>C (p.Glu115Asp) c.279G>C (p.Glu93Asp) c.291G>C (p.Glu97Asp) c.252G>C (p.Glu84Asp) n.353G>C c.60G>C (p.Glu20Asp) n.480G>C n.306G>C | |
22 | g.19918886C>T | CA513369051 | TXNRD2 | c.348G>A (p.Glu116=) c.258G>A (p.Glu86=) c.345G>A (p.Glu115=) c.279G>A (p.Glu93=) c.291G>A (p.Glu97=) c.252G>A (p.Glu84=) n.353G>A c.60G>A (p.Glu20=) n.480G>A n.306G>A | gnomAD v4 |
22 | g.19918887T>A | CA410693701 | TXNRD2 | c.347A>T (p.Glu116Val) c.257A>T (p.Glu86Val) c.344A>T (p.Glu115Val) c.278A>T (p.Glu93Val) c.290A>T (p.Glu97Val) c.251A>T (p.Glu84Val) n.352A>T c.59A>T (p.Glu20Val) n.479A>T n.305A>T | |
22 | g.19918887T>C | CA10104260 | TXNRD2 | c.347A>G (p.Glu116Gly) c.257A>G (p.Glu86Gly) c.344A>G (p.Glu115Gly) c.278A>G (p.Glu93Gly) c.290A>G (p.Glu97Gly) c.251A>G (p.Glu84Gly) n.352A>G c.59A>G (p.Glu20Gly) n.479A>G n.305A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918887T>G | CA410693703 | TXNRD2 | c.347A>C (p.Glu116Ala) c.257A>C (p.Glu86Ala) c.344A>C (p.Glu115Ala) c.278A>C (p.Glu93Ala) c.290A>C (p.Glu97Ala) c.251A>C (p.Glu84Ala) n.352A>C c.59A>C (p.Glu20Ala) n.479A>C n.305A>C | |
22 | g.19918887T= | CA2396103735 | TXNRD2 | c.347A= (p.Glu116=) c.257A= (p.Glu86=) c.344A= (p.Glu115=) c.278A= (p.Glu93=) c.290A= (p.Glu97=) c.251A= (p.Glu84=) n.352A= c.59A= (p.Glu20=) n.479A= n.305A= | |
22 | g.19918888C>A | CA410693709 | TXNRD2 | c.346G>T (p.Glu116Ter) c.256G>T (p.Glu86Ter) c.343G>T (p.Glu115Ter) c.277G>T (p.Glu93Ter) c.289G>T (p.Glu97Ter) c.250G>T (p.Glu84Ter) n.351G>T c.58G>T (p.Glu20Ter) n.478G>T n.304G>T | |
22 | g.19918888C= | CA2396103736 | TXNRD2 | c.346G= (p.Glu116=) c.256G= (p.Glu86=) c.343G= (p.Glu115=) c.277G= (p.Glu93=) c.289G= (p.Glu97=) c.250G= (p.Glu84=) n.351G= c.58G= (p.Glu20=) n.478G= n.304G= | |
22 | g.19918888C>G | CA410693707 | TXNRD2 | c.346G>C (p.Glu116Gln) c.256G>C (p.Glu86Gln) c.343G>C (p.Glu115Gln) c.277G>C (p.Glu93Gln) c.289G>C (p.Glu97Gln) c.250G>C (p.Glu84Gln) n.351G>C c.58G>C (p.Glu20Gln) n.478G>C n.304G>C | |
22 | g.19918888C>T | CA410693705 | TXNRD2 | c.346G>A (p.Glu116Lys) c.256G>A (p.Glu86Lys) c.343G>A (p.Glu115Lys) c.277G>A (p.Glu93Lys) c.289G>A (p.Glu97Lys) c.250G>A (p.Glu84Lys) n.351G>A c.58G>A (p.Glu20Lys) n.478G>A n.304G>A | dbSNP gnomAD v2 |
22 | g.19918889C>A | CA410693711 | TXNRD2 | c.345G>T (p.Trp115Cys) c.255G>T (p.Trp85Cys) c.342G>T (p.Trp114Cys) c.276G>T (p.Trp92Cys) c.288G>T (p.Trp96Cys) c.249G>T (p.Trp83Cys) n.350G>T c.57G>T (p.Trp19Cys) n.477G>T n.303G>T | |
22 | g.19918889C>G | CA410693712 | TXNRD2 | c.345G>C (p.Trp115Cys) c.255G>C (p.Trp85Cys) c.342G>C (p.Trp114Cys) c.276G>C (p.Trp92Cys) c.288G>C (p.Trp96Cys) c.249G>C (p.Trp83Cys) n.350G>C c.57G>C (p.Trp19Cys) n.477G>C n.303G>C | |
22 | g.19918889C>T | CA410693714 | TXNRD2 | c.345G>A (p.Trp115Ter) c.255G>A (p.Trp85Ter) c.342G>A (p.Trp114Ter) c.276G>A (p.Trp92Ter) c.288G>A (p.Trp96Ter) c.249G>A (p.Trp83Ter) n.350G>A c.57G>A (p.Trp19Ter) n.477G>A n.303G>A | gnomAD v4 |
22 | g.19918890C>A | CA410693716 | TXNRD2 | c.344G>T (p.Trp115Leu) c.254G>T (p.Trp85Leu) c.341G>T (p.Trp114Leu) c.275G>T (p.Trp92Leu) c.287G>T (p.Trp96Leu) c.248G>T (p.Trp83Leu) n.349G>T c.56G>T (p.Trp19Leu) n.476G>T n.302G>T | |
22 | g.19918890C= | CA2396103737 | TXNRD2 | c.344G= (p.Trp115=) c.254G= (p.Trp85=) c.341G= (p.Trp114=) c.275G= (p.Trp92=) c.287G= (p.Trp96=) c.248G= (p.Trp83=) n.349G= c.56G= (p.Trp19=) n.476G= n.302G= | |
22 | g.19918890C>G | CA410693718 | TXNRD2 | c.344G>C (p.Trp115Ser) c.254G>C (p.Trp85Ser) c.341G>C (p.Trp114Ser) c.275G>C (p.Trp92Ser) c.287G>C (p.Trp96Ser) c.248G>C (p.Trp83Ser) n.349G>C c.56G>C (p.Trp19Ser) n.476G>C n.302G>C | |
22 | g.19918890C>T | CA410693720 | TXNRD2 | c.344G>A (p.Trp115Ter) c.254G>A (p.Trp85Ter) c.341G>A (p.Trp114Ter) c.275G>A (p.Trp92Ter) c.287G>A (p.Trp96Ter) c.248G>A (p.Trp83Ter) n.349G>A c.56G>A (p.Trp19Ter) n.476G>A n.302G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918891A>C | CA410693721 | TXNRD2 | c.343T>G (p.Trp115Gly) c.253T>G (p.Trp85Gly) c.340T>G (p.Trp114Gly) c.274T>G (p.Trp92Gly) c.286T>G (p.Trp96Gly) c.247T>G (p.Trp83Gly) n.348T>G c.55T>G (p.Trp19Gly) n.475T>G n.301T>G | |
22 | g.19918891A>G | CA410693722 | TXNRD2 | c.343T>C (p.Trp115Arg) c.253T>C (p.Trp85Arg) c.340T>C (p.Trp114Arg) c.274T>C (p.Trp92Arg) c.286T>C (p.Trp96Arg) c.247T>C (p.Trp83Arg) n.348T>C c.55T>C (p.Trp19Arg) n.475T>C n.301T>C | |
22 | g.19918891A>T | CA410693724 | TXNRD2 | c.343T>A (p.Trp115Arg) c.253T>A (p.Trp85Arg) c.340T>A (p.Trp114Arg) c.274T>A (p.Trp92Arg) c.286T>A (p.Trp96Arg) c.247T>A (p.Trp83Arg) n.348T>A c.55T>A (p.Trp19Arg) n.475T>A n.301T>A | |
22 | g.19918891dup | CA2655329350 | TXNRD2 | c.343dup (p.Trp115LeufsTer10) c.253dup (p.Trp85LeufsTer10) c.340dup (p.Trp114LeufsTer10) c.274dup (p.Trp92LeufsTer10) c.286dup (p.Trp96LeufsTer10) c.247dup (p.Trp83LeufsTer10) n.348dup c.55dup (p.Trp19LeufsTer10) n.475dup n.301dup | gnomAD v4 |
22 | g.19918892G>A | CA513369054 | TXNRD2 | c.342C>T (p.Gly114=) c.252C>T (p.Gly84=) c.339C>T (p.Gly113=) c.273C>T (p.Gly91=) c.285C>T (p.Gly95=) c.246C>T (p.Gly82=) n.347C>T c.54C>T (p.Gly18=) n.474C>T n.300C>T | gnomAD v4 |
22 | g.19918892G>C | CA513369053 | TXNRD2 | c.342C>G (p.Gly114=) c.252C>G (p.Gly84=) c.339C>G (p.Gly113=) c.273C>G (p.Gly91=) c.285C>G (p.Gly95=) c.246C>G (p.Gly82=) n.347C>G c.54C>G (p.Gly18=) n.474C>G n.300C>G | |
22 | g.19918892G>T | CA513369052 | TXNRD2 | c.342C>A (p.Gly114=) c.252C>A (p.Gly84=) c.339C>A (p.Gly113=) c.273C>A (p.Gly91=) c.285C>A (p.Gly95=) c.246C>A (p.Gly82=) n.347C>A c.54C>A (p.Gly18=) n.474C>A n.300C>A | gnomAD v4 |
22 | g.19918893C>A | CA410693726 | TXNRD2 | c.341G>T (p.Gly114Val) c.251G>T (p.Gly84Val) c.338G>T (p.Gly113Val) c.272G>T (p.Gly91Val) c.284G>T (p.Gly95Val) c.245G>T (p.Gly82Val) n.346G>T c.53G>T (p.Gly18Val) n.473G>T n.299G>T | |
22 | g.19918893C>G | CA410693728 | TXNRD2 | c.341G>C (p.Gly114Ala) c.251G>C (p.Gly84Ala) c.338G>C (p.Gly113Ala) c.272G>C (p.Gly91Ala) c.284G>C (p.Gly95Ala) c.245G>C (p.Gly82Ala) n.346G>C c.53G>C (p.Gly18Ala) n.473G>C n.299G>C | |
22 | g.19918893C>T | CA410693729 | TXNRD2 | c.341G>A (p.Gly114Asp) c.251G>A (p.Gly84Asp) c.338G>A (p.Gly113Asp) c.272G>A (p.Gly91Asp) c.284G>A (p.Gly95Asp) c.245G>A (p.Gly82Asp) n.346G>A c.53G>A (p.Gly18Asp) n.473G>A n.299G>A | gnomAD v4 |
22 | g.19918894C>A | CA410693735 | TXNRD2 | c.340G>T (p.Gly114Cys) c.250G>T (p.Gly84Cys) c.337G>T (p.Gly113Cys) c.271G>T (p.Gly91Cys) c.283G>T (p.Gly95Cys) c.244G>T (p.Gly82Cys) n.345G>T c.52G>T (p.Gly18Cys) n.472G>T n.298G>T | |
22 | g.19918894C>G | CA410693733 | TXNRD2 | c.340G>C (p.Gly114Arg) c.250G>C (p.Gly84Arg) c.337G>C (p.Gly113Arg) c.271G>C (p.Gly91Arg) c.283G>C (p.Gly95Arg) c.244G>C (p.Gly82Arg) n.345G>C c.52G>C (p.Gly18Arg) n.472G>C n.298G>C | |
22 | g.19918894C>T | CA410693732 | TXNRD2 | c.340G>A (p.Gly114Ser) c.250G>A (p.Gly84Ser) c.337G>A (p.Gly113Ser) c.271G>A (p.Gly91Ser) c.283G>A (p.Gly95Ser) c.244G>A (p.Gly82Ser) n.345G>A c.52G>A (p.Gly18Ser) n.472G>A n.298G>A | |
22 | g.19918895A>C | CA410693737 | TXNRD2 | c.339T>G (p.Tyr113Ter) c.249T>G (p.Tyr83Ter) c.336T>G (p.Tyr112Ter) c.270T>G (p.Tyr90Ter) c.282T>G (p.Tyr94Ter) c.243T>G (p.Tyr81Ter) n.344T>G c.51T>G (p.Tyr17Ter) n.471T>G n.297T>G | |
22 | g.19918895A>G | CA513369055 | TXNRD2 | c.339T>C (p.Tyr113=) c.249T>C (p.Tyr83=) c.336T>C (p.Tyr112=) c.270T>C (p.Tyr90=) c.282T>C (p.Tyr94=) c.243T>C (p.Tyr81=) n.344T>C c.51T>C (p.Tyr17=) n.471T>C n.297T>C | |
22 | g.19918895A>T | CA410693738 | TXNRD2 | c.339T>A (p.Tyr113Ter) c.249T>A (p.Tyr83Ter) c.336T>A (p.Tyr112Ter) c.270T>A (p.Tyr90Ter) c.282T>A (p.Tyr94Ter) c.243T>A (p.Tyr81Ter) n.344T>A c.51T>A (p.Tyr17Ter) n.471T>A n.297T>A | |
22 | g.19918896T>A | CA410693740 | TXNRD2 | c.338A>T (p.Tyr113Phe) c.248A>T (p.Tyr83Phe) c.335A>T (p.Tyr112Phe) c.269A>T (p.Tyr90Phe) c.281A>T (p.Tyr94Phe) c.242A>T (p.Tyr81Phe) n.343A>T c.50A>T (p.Tyr17Phe) n.470A>T n.296A>T | |
22 | g.19918896T>C | CA410693741 | TXNRD2 | c.338A>G (p.Tyr113Cys) c.248A>G (p.Tyr83Cys) c.335A>G (p.Tyr112Cys) c.269A>G (p.Tyr90Cys) c.281A>G (p.Tyr94Cys) c.242A>G (p.Tyr81Cys) n.343A>G c.50A>G (p.Tyr17Cys) n.470A>G n.296A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918896T>G | CA322105574 | TXNRD2 | c.338A>C (p.Tyr113Ser) c.248A>C (p.Tyr83Ser) c.335A>C (p.Tyr112Ser) c.269A>C (p.Tyr90Ser) c.281A>C (p.Tyr94Ser) c.242A>C (p.Tyr81Ser) n.343A>C c.50A>C (p.Tyr17Ser) n.470A>C n.296A>C | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918896T= | CA2396103738 | TXNRD2 | c.338A= (p.Tyr113=) c.248A= (p.Tyr83=) c.335A= (p.Tyr112=) c.269A= (p.Tyr90=) c.281A= (p.Tyr94=) c.242A= (p.Tyr81=) n.343A= c.50A= (p.Tyr17=) n.470A= n.296A= | |
22 | g.19918897A= | CA2396103739 | TXNRD2 | c.337T= (p.Tyr113=) c.247T= (p.Tyr83=) c.334T= (p.Tyr112=) c.268T= (p.Tyr90=) c.280T= (p.Tyr94=) c.241T= (p.Tyr81=) n.342T= c.49T= (p.Tyr17=) n.469T= n.295T= | |
22 | g.19918897A>C | CA410693743 | TXNRD2 | c.337T>G (p.Tyr113Asp) c.247T>G (p.Tyr83Asp) c.334T>G (p.Tyr112Asp) c.268T>G (p.Tyr90Asp) c.280T>G (p.Tyr94Asp) c.241T>G (p.Tyr81Asp) n.342T>G c.49T>G (p.Tyr17Asp) n.469T>G n.295T>G | |
22 | g.19918897A>G | CA351852 | TXNRD2 | c.337T>C (p.Tyr113His) c.247T>C (p.Tyr83His) c.334T>C (p.Tyr112His) c.268T>C (p.Tyr90His) c.280T>C (p.Tyr94His) c.241T>C (p.Tyr81His) n.342T>C c.49T>C (p.Tyr17His) n.469T>C n.295T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918897A>T | CA410693745 | TXNRD2 | c.337T>A (p.Tyr113Asn) c.247T>A (p.Tyr83Asn) c.334T>A (p.Tyr112Asn) c.268T>A (p.Tyr90Asn) c.280T>A (p.Tyr94Asn) c.241T>A (p.Tyr81Asn) n.342T>A c.49T>A (p.Tyr17Asn) n.469T>A n.295T>A | |
22 | g.19918898del | CA2655329351 | TXNRD2 | c.336del (p.Tyr113MetfsTer24) c.246del (p.Tyr83MetfsTer24) c.333del (p.Tyr112MetfsTer24) c.267del (p.Tyr90MetfsTer24) c.279del (p.Tyr94MetfsTer24) c.240del (p.Tyr81MetfsTer24) n.341del c.48del (p.Tyr17MetfsTer24) n.468del n.294del | gnomAD v4 |
22 | g.19918898G>A | CA513369056 | TXNRD2 | c.336C>T (p.Asn112=) c.246C>T (p.Asn82=) c.333C>T (p.Asn111=) c.267C>T (p.Asn89=) c.279C>T (p.Asn93=) c.240C>T (p.Asn80=) n.341C>T c.48C>T (p.Asn16=) n.468C>T n.294C>T | |
22 | g.19918898G>C | CA410693747 | TXNRD2 | c.336C>G (p.Asn112Lys) c.246C>G (p.Asn82Lys) c.333C>G (p.Asn111Lys) c.267C>G (p.Asn89Lys) c.279C>G (p.Asn93Lys) c.240C>G (p.Asn80Lys) n.341C>G c.48C>G (p.Asn16Lys) n.468C>G n.294C>G | |
22 | g.19918898G= | CA2396103740 | TXNRD2 | c.336C= (p.Asn112=) c.246C= (p.Asn82=) c.333C= (p.Asn111=) c.267C= (p.Asn89=) c.279C= (p.Asn93=) c.240C= (p.Asn80=) n.341C= c.48C= (p.Asn16=) n.468C= n.294C= | |
22 | g.19918898G>T | CA410693749 | TXNRD2 | c.336C>A (p.Asn112Lys) c.246C>A (p.Asn82Lys) c.333C>A (p.Asn111Lys) c.267C>A (p.Asn89Lys) c.279C>A (p.Asn93Lys) c.240C>A (p.Asn80Lys) n.341C>A c.48C>A (p.Asn16Lys) n.468C>A n.294C>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918899T>A | CA410693750 | TXNRD2 | c.335A>T (p.Asn112Ile) c.245A>T (p.Asn82Ile) c.332A>T (p.Asn111Ile) c.266A>T (p.Asn89Ile) c.278A>T (p.Asn93Ile) c.239A>T (p.Asn80Ile) n.340A>T c.47A>T (p.Asn16Ile) n.467A>T n.293A>T | ClinVar dbSNP |
22 | g.19918899T>C | CA10104261 | TXNRD2 | c.335A>G (p.Asn112Ser) c.245A>G (p.Asn82Ser) c.332A>G (p.Asn111Ser) c.266A>G (p.Asn89Ser) c.278A>G (p.Asn93Ser) c.239A>G (p.Asn80Ser) n.340A>G c.47A>G (p.Asn16Ser) n.467A>G n.293A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918899T>G | CA410693752 | TXNRD2 | c.335A>C (p.Asn112Thr) c.245A>C (p.Asn82Thr) c.332A>C (p.Asn111Thr) c.266A>C (p.Asn89Thr) c.278A>C (p.Asn93Thr) c.239A>C (p.Asn80Thr) n.340A>C c.47A>C (p.Asn16Thr) n.467A>C n.293A>C | dbSNP |
22 | g.19918899T= | CA2396103741 | TXNRD2 | c.335A= (p.Asn112=) c.245A= (p.Asn82=) c.332A= (p.Asn111=) c.266A= (p.Asn89=) c.278A= (p.Asn93=) c.239A= (p.Asn80=) n.340A= c.47A= (p.Asn16=) n.467A= n.293A= | |
22 | g.19918900T>A | CA410693756 | TXNRD2 | c.334A>T (p.Asn112Tyr) c.244A>T (p.Asn82Tyr) c.331A>T (p.Asn111Tyr) c.265A>T (p.Asn89Tyr) c.277A>T (p.Asn93Tyr) c.238A>T (p.Asn80Tyr) n.339A>T c.46A>T (p.Asn16Tyr) n.466A>T n.292A>T | |
22 | g.19918900T>C | CA322105575 | TXNRD2 | c.334A>G (p.Asn112Asp) c.244A>G (p.Asn82Asp) c.331A>G (p.Asn111Asp) c.265A>G (p.Asn89Asp) c.277A>G (p.Asn93Asp) c.238A>G (p.Asn80Asp) n.339A>G c.46A>G (p.Asn16Asp) n.466A>G n.292A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918900T>G | CA410693754 | TXNRD2 | c.334A>C (p.Asn112His) c.244A>C (p.Asn82His) c.331A>C (p.Asn111His) c.265A>C (p.Asn89His) c.277A>C (p.Asn93His) c.238A>C (p.Asn80His) n.339A>C c.46A>C (p.Asn16His) n.466A>C n.292A>C | |
22 | g.19918900T= | CA2396103742 | TXNRD2 | c.334A= (p.Asn112=) c.244A= (p.Asn82=) c.331A= (p.Asn111=) c.265A= (p.Asn89=) c.277A= (p.Asn93=) c.238A= (p.Asn80=) n.339A= c.46A= (p.Asn16=) n.466A= n.292A= | |
22 | g.19918901G>A | CA513369059 | TXNRD2 | c.333C>T (p.Pro111=) c.243C>T (p.Pro81=) c.330C>T (p.Pro110=) c.264C>T (p.Pro88=) c.276C>T (p.Pro92=) c.237C>T (p.Pro79=) n.338C>T c.45C>T (p.Pro15=) n.465C>T n.291C>T | dbSNP gnomAD v2 |
22 | g.19918901G>C | CA513369058 | TXNRD2 | c.333C>G (p.Pro111=) c.243C>G (p.Pro81=) c.330C>G (p.Pro110=) c.264C>G (p.Pro88=) c.276C>G (p.Pro92=) c.237C>G (p.Pro79=) n.338C>G c.45C>G (p.Pro15=) n.465C>G n.291C>G | |
22 | g.19918901G= | CA2396103743 | TXNRD2 | c.333C= (p.Pro111=) c.243C= (p.Pro81=) c.330C= (p.Pro110=) c.264C= (p.Pro88=) c.276C= (p.Pro92=) c.237C= (p.Pro79=) n.338C= c.45C= (p.Pro15=) n.465C= n.291C= | |
22 | g.19918901G>T | CA513369057 | TXNRD2 | c.333C>A (p.Pro111=) c.243C>A (p.Pro81=) c.330C>A (p.Pro110=) c.264C>A (p.Pro88=) c.276C>A (p.Pro92=) c.237C>A (p.Pro79=) n.338C>A c.45C>A (p.Pro15=) n.465C>A n.291C>A | gnomAD v4 |
22 | g.19918905del | CA2655329353 | TXNRD2 | c.333del (p.Asn112ThrfsTer25) c.243del (p.Asn82ThrfsTer25) c.330del (p.Asn111ThrfsTer25) c.264del (p.Asn89ThrfsTer25) c.276del (p.Asn93ThrfsTer25) c.237del (p.Asn80ThrfsTer25) n.338del c.45del (p.Asn16ThrfsTer25) n.465del n.291del | gnomAD v4 |
22 | g.19918903_19918905del | CA2655329354 | TXNRD2 | c.331_333del (p.Pro111del) c.241_243del (p.Pro81del) c.328_330del (p.Pro110del) c.262_264del (p.Pro88del) c.274_276del (p.Pro92del) c.235_237del (p.Pro79del) n.336_338del c.43_45del (p.Pro15del) n.463_465del n.289_291del | gnomAD v4 |
22 | g.19918902G>A | CA410693758 | TXNRD2 | c.332C>T (p.Pro111Leu) c.242C>T (p.Pro81Leu) c.329C>T (p.Pro110Leu) c.263C>T (p.Pro88Leu) c.275C>T (p.Pro92Leu) c.236C>T (p.Pro79Leu) n.337C>T c.44C>T (p.Pro15Leu) n.464C>T n.290C>T | gnomAD v4 |
22 | g.19918902G>C | CA410693759 | TXNRD2 | c.332C>G (p.Pro111Arg) c.242C>G (p.Pro81Arg) c.329C>G (p.Pro110Arg) c.263C>G (p.Pro88Arg) c.275C>G (p.Pro92Arg) c.236C>G (p.Pro79Arg) n.337C>G c.44C>G (p.Pro15Arg) n.464C>G n.290C>G | |
22 | g.19918902G>T | CA410693760 | TXNRD2 | c.332C>A (p.Pro111His) c.242C>A (p.Pro81His) c.329C>A (p.Pro110His) c.263C>A (p.Pro88His) c.275C>A (p.Pro92His) c.236C>A (p.Pro79His) n.337C>A c.44C>A (p.Pro15His) n.464C>A n.290C>A | |
22 | g.19918903G>A | CA410693762 | TXNRD2 | c.331C>T (p.Pro111Ser) c.241C>T (p.Pro81Ser) c.328C>T (p.Pro110Ser) c.262C>T (p.Pro88Ser) c.274C>T (p.Pro92Ser) c.235C>T (p.Pro79Ser) n.336C>T c.43C>T (p.Pro15Ser) n.463C>T n.289C>T | gnomAD v4 |
22 | g.19918903G>C | CA410693764 | TXNRD2 | c.331C>G (p.Pro111Ala) c.241C>G (p.Pro81Ala) c.328C>G (p.Pro110Ala) c.262C>G (p.Pro88Ala) c.274C>G (p.Pro92Ala) c.235C>G (p.Pro79Ala) n.336C>G c.43C>G (p.Pro15Ala) n.463C>G n.289C>G | |
22 | g.19918903G>T | CA410693765 | TXNRD2 | c.331C>A (p.Pro111Thr) c.241C>A (p.Pro81Thr) c.328C>A (p.Pro110Thr) c.262C>A (p.Pro88Thr) c.274C>A (p.Pro92Thr) c.235C>A (p.Pro79Thr) n.336C>A c.43C>A (p.Pro15Thr) n.463C>A n.289C>A | gnomAD v4 |
22 | g.19918904G>A | CA513369062 | TXNRD2 | c.330C>T (p.Ala110=) c.240C>T (p.Ala80=) c.327C>T (p.Ala109=) c.261C>T (p.Ala87=) c.273C>T (p.Ala91=) c.234C>T (p.Ala78=) n.335C>T c.42C>T (p.Ala14=) n.462C>T n.288C>T | |
22 | g.19918904G>C | CA513369061 | TXNRD2 | c.330C>G (p.Ala110=) c.240C>G (p.Ala80=) c.327C>G (p.Ala109=) c.261C>G (p.Ala87=) c.273C>G (p.Ala91=) c.234C>G (p.Ala78=) n.335C>G c.42C>G (p.Ala14=) n.462C>G n.288C>G | |
22 | g.19918904G>T | CA513369060 | TXNRD2 | c.330C>A (p.Ala110=) c.240C>A (p.Ala80=) c.327C>A (p.Ala109=) c.261C>A (p.Ala87=) c.273C>A (p.Ala91=) c.234C>A (p.Ala78=) n.335C>A c.42C>A (p.Ala14=) n.462C>A n.288C>A | gnomAD v4 |
22 | g.19918905G>A | CA410693767 | TXNRD2 | c.329C>T (p.Ala110Val) c.239C>T (p.Ala80Val) c.326C>T (p.Ala109Val) c.260C>T (p.Ala87Val) c.272C>T (p.Ala91Val) c.233C>T (p.Ala78Val) n.334C>T c.41C>T (p.Ala14Val) n.461C>T n.287C>T | gnomAD v4 |
22 | g.19918905G>C | CA410693769 | TXNRD2 | c.329C>G (p.Ala110Gly) c.239C>G (p.Ala80Gly) c.326C>G (p.Ala109Gly) c.260C>G (p.Ala87Gly) c.272C>G (p.Ala91Gly) c.233C>G (p.Ala78Gly) n.334C>G c.41C>G (p.Ala14Gly) n.461C>G n.287C>G | |
22 | g.19918905G>T | CA410693770 | TXNRD2 | c.329C>A (p.Ala110Asp) c.239C>A (p.Ala80Asp) c.326C>A (p.Ala109Asp) c.260C>A (p.Ala87Asp) c.272C>A (p.Ala91Asp) c.233C>A (p.Ala78Asp) n.334C>A c.41C>A (p.Ala14Asp) n.461C>A n.287C>A | gnomAD v4 |
22 | g.19918906C>A | CA410693772 | TXNRD2 | c.328G>T (p.Ala110Ser) c.238G>T (p.Ala80Ser) c.325G>T (p.Ala109Ser) c.259G>T (p.Ala87Ser) c.271G>T (p.Ala91Ser) c.232G>T (p.Ala78Ser) n.333G>T c.40G>T (p.Ala14Ser) n.460G>T n.286G>T | gnomAD v4 |
22 | g.19918906C>G | CA410693773 | TXNRD2 | c.328G>C (p.Ala110Pro) c.238G>C (p.Ala80Pro) c.325G>C (p.Ala109Pro) c.259G>C (p.Ala87Pro) c.271G>C (p.Ala91Pro) c.232G>C (p.Ala78Pro) n.333G>C c.40G>C (p.Ala14Pro) n.460G>C n.286G>C | |
22 | g.19918906C>T | CA410693775 | TXNRD2 | c.328G>A (p.Ala110Thr) c.238G>A (p.Ala80Thr) c.325G>A (p.Ala109Thr) c.259G>A (p.Ala87Thr) c.271G>A (p.Ala91Thr) c.232G>A (p.Ala78Thr) n.333G>A c.40G>A (p.Ala14Thr) n.460G>A n.286G>A | gnomAD v4 |
22 | g.19918907A>C | CA410693778 | TXNRD2 | c.327T>G (p.Asp109Glu) c.237T>G (p.Asp79Glu) c.324T>G (p.Asp108Glu) c.258T>G (p.Asp86Glu) c.270T>G (p.Asp90Glu) c.231T>G (p.Asp77Glu) n.332T>G c.39T>G (p.Asp13Glu) n.459T>G n.285T>G | |
22 | g.19918907A>G | CA513369063 | TXNRD2 | c.327T>C (p.Asp109=) c.237T>C (p.Asp79=) c.324T>C (p.Asp108=) c.258T>C (p.Asp86=) c.270T>C (p.Asp90=) c.231T>C (p.Asp77=) n.332T>C c.39T>C (p.Asp13=) n.459T>C n.285T>C | |
22 | g.19918907A>T | CA410693777 | TXNRD2 | c.327T>A (p.Asp109Glu) c.237T>A (p.Asp79Glu) c.324T>A (p.Asp108Glu) c.258T>A (p.Asp86Glu) c.270T>A (p.Asp90Glu) c.231T>A (p.Asp77Glu) n.332T>A c.39T>A (p.Asp13Glu) n.459T>A n.285T>A | |
22 | g.19918908T>A | CA410693780 | TXNRD2 | c.326A>T (p.Asp109Val) c.236A>T (p.Asp79Val) c.323A>T (p.Asp108Val) c.257A>T (p.Asp86Val) c.269A>T (p.Asp90Val) c.230A>T (p.Asp77Val) n.331A>T c.38A>T (p.Asp13Val) n.458A>T n.284A>T | |
22 | g.19918908T>C | CA410693782 | TXNRD2 | c.326A>G (p.Asp109Gly) c.236A>G (p.Asp79Gly) c.323A>G (p.Asp108Gly) c.257A>G (p.Asp86Gly) c.269A>G (p.Asp90Gly) c.230A>G (p.Asp77Gly) n.331A>G c.38A>G (p.Asp13Gly) n.458A>G n.284A>G | |
22 | g.19918908T>G | CA410693781 | TXNRD2 | c.326A>C (p.Asp109Ala) c.236A>C (p.Asp79Ala) c.323A>C (p.Asp108Ala) c.257A>C (p.Asp86Ala) c.269A>C (p.Asp90Ala) c.230A>C (p.Asp77Ala) n.331A>C c.38A>C (p.Asp13Ala) n.458A>C n.284A>C | |
22 | g.19918909C>A | CA410693784 | TXNRD2 | c.325G>T (p.Asp109Tyr) c.235G>T (p.Asp79Tyr) c.322G>T (p.Asp108Tyr) c.256G>T (p.Asp86Tyr) c.268G>T (p.Asp90Tyr) c.229G>T (p.Asp77Tyr) n.330G>T c.37G>T (p.Asp13Tyr) n.457G>T n.283G>T | |
22 | g.19918909C= | CA2396103744 | TXNRD2 | c.325G= (p.Asp109=) c.235G= (p.Asp79=) c.322G= (p.Asp108=) c.256G= (p.Asp86=) c.268G= (p.Asp90=) c.229G= (p.Asp77=) n.330G= c.37G= (p.Asp13=) n.457G= n.283G= | |
22 | g.19918909C>G | CA410693787 | TXNRD2 | c.325G>C (p.Asp109His) c.235G>C (p.Asp79His) c.322G>C (p.Asp108His) c.256G>C (p.Asp86His) c.268G>C (p.Asp90His) c.229G>C (p.Asp77His) n.330G>C c.37G>C (p.Asp13His) n.457G>C n.283G>C | |
22 | g.19918909C>T | CA410693785 | TXNRD2 | c.325G>A (p.Asp109Asn) c.235G>A (p.Asp79Asn) c.322G>A (p.Asp108Asn) c.256G>A (p.Asp86Asn) c.268G>A (p.Asp90Asn) c.229G>A (p.Asp77Asn) n.330G>A c.37G>A (p.Asp13Asn) n.457G>A n.283G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918910T>A | CA410693789 | TXNRD2 | c.324A>T (p.Gln108His) c.234A>T (p.Gln78His) c.321A>T (p.Gln107His) c.255A>T (p.Gln85His) c.267A>T (p.Gln89His) c.228A>T (p.Gln76His) n.329A>T c.36A>T (p.Gln12His) n.456A>T n.282A>T | |
22 | g.19918910T>C | CA513369064 | TXNRD2 | c.324A>G (p.Gln108=) c.234A>G (p.Gln78=) c.321A>G (p.Gln107=) c.255A>G (p.Gln85=) c.267A>G (p.Gln89=) c.228A>G (p.Gln76=) n.329A>G c.36A>G (p.Gln12=) n.456A>G n.282A>G | dbSNP gnomAD v4 |
22 | g.19918910T>G | CA410693791 | TXNRD2 | c.324A>C (p.Gln108His) c.234A>C (p.Gln78His) c.321A>C (p.Gln107His) c.255A>C (p.Gln85His) c.267A>C (p.Gln89His) c.228A>C (p.Gln76His) n.329A>C c.36A>C (p.Gln12His) n.456A>C n.282A>C | |
22 | g.19918910T= | CA2396103745 | TXNRD2 | c.324A= (p.Gln108=) c.234A= (p.Gln78=) c.321A= (p.Gln107=) c.255A= (p.Gln85=) c.267A= (p.Gln89=) c.228A= (p.Gln76=) n.329A= c.36A= (p.Gln12=) n.456A= n.282A= | |
22 | g.19918911T>A | CA410693792 | TXNRD2 | c.323A>T (p.Gln108Leu) c.233A>T (p.Gln78Leu) c.320A>T (p.Gln107Leu) c.254A>T (p.Gln85Leu) c.266A>T (p.Gln89Leu) c.227A>T (p.Gln76Leu) n.328A>T c.35A>T (p.Gln12Leu) n.455A>T n.281A>T | |
22 | g.19918911T>C | CA410693793 | TXNRD2 | c.323A>G (p.Gln108Arg) c.233A>G (p.Gln78Arg) c.320A>G (p.Gln107Arg) c.254A>G (p.Gln85Arg) c.266A>G (p.Gln89Arg) c.227A>G (p.Gln76Arg) n.328A>G c.35A>G (p.Gln12Arg) n.455A>G n.281A>G | dbSNP gnomAD v4 |
22 | g.19918911T>G | CA410693795 | TXNRD2 | c.323A>C (p.Gln108Pro) c.233A>C (p.Gln78Pro) c.320A>C (p.Gln107Pro) c.254A>C (p.Gln85Pro) c.266A>C (p.Gln89Pro) c.227A>C (p.Gln76Pro) n.328A>C c.35A>C (p.Gln12Pro) n.455A>C n.281A>C | |
22 | g.19918911T= | CA2396103746 | TXNRD2 | c.323A= (p.Gln108=) c.233A= (p.Gln78=) c.320A= (p.Gln107=) c.254A= (p.Gln85=) c.266A= (p.Gln89=) c.227A= (p.Gln76=) n.328A= c.35A= (p.Gln12=) n.455A= n.281A= | |
22 | g.19918912G>A | CA410693797 | TXNRD2 | c.322C>T (p.Gln108Ter) c.232C>T (p.Gln78Ter) c.319C>T (p.Gln107Ter) c.253C>T (p.Gln85Ter) c.265C>T (p.Gln89Ter) c.226C>T (p.Gln76Ter) n.327C>T c.34C>T (p.Gln12Ter) n.454C>T n.280C>T | |
22 | g.19918912G>C | CA410693798 | TXNRD2 | c.322C>G (p.Gln108Glu) c.232C>G (p.Gln78Glu) c.319C>G (p.Gln107Glu) c.253C>G (p.Gln85Glu) c.265C>G (p.Gln89Glu) c.226C>G (p.Gln76Glu) n.327C>G c.34C>G (p.Gln12Glu) n.454C>G n.280C>G | |
22 | g.19918912G>T | CA410693800 | TXNRD2 | c.322C>A (p.Gln108Lys) c.232C>A (p.Gln78Lys) c.319C>A (p.Gln107Lys) c.253C>A (p.Gln85Lys) c.265C>A (p.Gln89Lys) c.226C>A (p.Gln76Lys) n.327C>A c.34C>A (p.Gln12Lys) n.454C>A n.280C>A | gnomAD v4 |
22 | g.19918913G>A | CA513369066 | TXNRD2 | c.321C>T (p.Ile107=) c.231C>T (p.Ile77=) c.318C>T (p.Ile106=) c.252C>T (p.Ile84=) c.264C>T (p.Ile88=) c.225C>T (p.Ile75=) n.326C>T c.33C>T (p.Ile11=) n.453C>T n.279C>T | COSMIC COSMIC |
22 | g.19918913G>C | CA410693802 | TXNRD2 | c.321C>G (p.Ile107Met) c.231C>G (p.Ile77Met) c.318C>G (p.Ile106Met) c.252C>G (p.Ile84Met) c.264C>G (p.Ile88Met) c.225C>G (p.Ile75Met) n.326C>G c.33C>G (p.Ile11Met) n.453C>G n.279C>G | |
22 | g.19918913G>T | CA513369065 | TXNRD2 | c.321C>A (p.Ile107=) c.231C>A (p.Ile77=) c.318C>A (p.Ile106=) c.252C>A (p.Ile84=) c.264C>A (p.Ile88=) c.225C>A (p.Ile75=) n.326C>A c.33C>A (p.Ile11=) n.453C>A n.279C>A | |
22 | g.19918914A>C | CA410693804 | TXNRD2 | c.320T>G (p.Ile107Ser) c.230T>G (p.Ile77Ser) c.317T>G (p.Ile106Ser) c.251T>G (p.Ile84Ser) c.263T>G (p.Ile88Ser) c.224T>G (p.Ile75Ser) n.325T>G c.32T>G (p.Ile11Ser) n.452T>G n.278T>G | |
22 | g.19918914A>G | CA410693806 | TXNRD2 | c.320T>C (p.Ile107Thr) c.230T>C (p.Ile77Thr) c.317T>C (p.Ile106Thr) c.251T>C (p.Ile84Thr) c.263T>C (p.Ile88Thr) c.224T>C (p.Ile75Thr) n.325T>C c.32T>C (p.Ile11Thr) n.452T>C n.278T>C | |
22 | g.19918914A>T | CA410693807 | TXNRD2 | c.320T>A (p.Ile107Asn) c.230T>A (p.Ile77Asn) c.317T>A (p.Ile106Asn) c.251T>A (p.Ile84Asn) c.263T>A (p.Ile88Asn) c.224T>A (p.Ile75Asn) n.325T>A c.32T>A (p.Ile11Asn) n.452T>A n.278T>A | gnomAD v4 |
22 | g.19918915T>A | CA410693809 | TXNRD2 | c.319A>T (p.Ile107Phe) c.229A>T (p.Ile77Phe) c.316A>T (p.Ile106Phe) c.250A>T (p.Ile84Phe) c.262A>T (p.Ile88Phe) c.223A>T (p.Ile75Phe) n.324A>T c.31A>T (p.Ile11Phe) n.451A>T n.277A>T | |
22 | g.19918915T>C | CA410693810 | TXNRD2 | c.319A>G (p.Ile107Val) c.229A>G (p.Ile77Val) c.316A>G (p.Ile106Val) c.250A>G (p.Ile84Val) c.262A>G (p.Ile88Val) c.223A>G (p.Ile75Val) n.324A>G c.31A>G (p.Ile11Val) n.451A>G n.277A>G | gnomAD v4 |
22 | g.19918915T>G | CA410693812 | TXNRD2 | c.319A>C (p.Ile107Leu) c.229A>C (p.Ile77Leu) c.316A>C (p.Ile106Leu) c.250A>C (p.Ile84Leu) c.262A>C (p.Ile88Leu) c.223A>C (p.Ile75Leu) n.324A>C c.31A>C (p.Ile11Leu) n.451A>C n.277A>C | |
22 | g.19918916C>A | CA513369068 | TXNRD2 | c.318G>T (p.Leu106=) c.228G>T (p.Leu76=) c.315G>T (p.Leu105=) c.249G>T (p.Leu83=) c.261G>T (p.Leu87=) c.222G>T (p.Leu74=) n.323G>T c.30G>T (p.Leu10=) n.450G>T n.276G>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918916C= | CA2396103747 | TXNRD2 | c.318G= (p.Leu106=) c.228G= (p.Leu76=) c.315G= (p.Leu105=) c.249G= (p.Leu83=) c.261G= (p.Leu87=) c.222G= (p.Leu74=) n.323G= c.30G= (p.Leu10=) n.450G= n.276G= | |
22 | g.19918916C>G | CA513369067 | TXNRD2 | c.318G>C (p.Leu106=) c.228G>C (p.Leu76=) c.315G>C (p.Leu105=) c.249G>C (p.Leu83=) c.261G>C (p.Leu87=) c.222G>C (p.Leu74=) n.323G>C c.30G>C (p.Leu10=) n.450G>C n.276G>C | |
22 | g.19918916C>T | CA10104262 | TXNRD2 | c.318G>A (p.Leu106=) c.228G>A (p.Leu76=) c.315G>A (p.Leu105=) c.249G>A (p.Leu83=) c.261G>A (p.Leu87=) c.222G>A (p.Leu74=) n.323G>A c.30G>A (p.Leu10=) n.450G>A n.276G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918917A>C | CA410693814 | TXNRD2 | c.317T>G (p.Leu106Arg) c.227T>G (p.Leu76Arg) c.314T>G (p.Leu105Arg) c.248T>G (p.Leu83Arg) c.260T>G (p.Leu87Arg) c.221T>G (p.Leu74Arg) n.322T>G c.29T>G (p.Leu10Arg) n.449T>G n.275T>G | |
22 | g.19918917A>G | CA410693816 | TXNRD2 | c.317T>C (p.Leu106Pro) c.227T>C (p.Leu76Pro) c.314T>C (p.Leu105Pro) c.248T>C (p.Leu83Pro) c.260T>C (p.Leu87Pro) c.221T>C (p.Leu74Pro) n.322T>C c.29T>C (p.Leu10Pro) n.449T>C n.275T>C | |
22 | g.19918917A>T | CA410693818 | TXNRD2 | c.317T>A (p.Leu106Gln) c.227T>A (p.Leu76Gln) c.314T>A (p.Leu105Gln) c.248T>A (p.Leu83Gln) c.260T>A (p.Leu87Gln) c.221T>A (p.Leu74Gln) n.322T>A c.29T>A (p.Leu10Gln) n.449T>A n.275T>A | |
22 | g.19918917_19918918delinsAG | CA2396103748 | TXNRD2 | c.316_317delinsCT (p.Leu106=) c.226_227delinsCT (p.Leu76=) c.313_314delinsCT (p.Leu105=) c.247_248delinsCT (p.Leu83=) c.259_260delinsCT (p.Leu87=) c.220_221delinsCT (p.Leu74=) n.321_322delinsCT c.28_29delinsCT (p.Leu10=) n.448_449delinsCT n.274_275delinsCT | |
22 | g.19918918G>A | CA513369069 | TXNRD2 | c.316C>T (p.Leu106=) c.226C>T (p.Leu76=) c.313C>T (p.Leu105=) c.247C>T (p.Leu83=) c.259C>T (p.Leu87=) c.220C>T (p.Leu74=) n.321C>T c.28C>T (p.Leu10=) n.448C>T n.274C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918918G>C | CA410693820 | TXNRD2 | c.316C>G (p.Leu106Val) c.226C>G (p.Leu76Val) c.313C>G (p.Leu105Val) c.247C>G (p.Leu83Val) c.259C>G (p.Leu87Val) c.220C>G (p.Leu74Val) n.321C>G c.28C>G (p.Leu10Val) n.448C>G n.274C>G | |
22 | g.19918918G= | CA2396103749 | TXNRD2 | c.316C= (p.Leu106=) c.226C= (p.Leu76=) c.313C= (p.Leu105=) c.247C= (p.Leu83=) c.259C= (p.Leu87=) c.220C= (p.Leu74=) n.321C= c.28C= (p.Leu10=) n.448C= n.274C= | |
22 | g.19918918G>T | CA410693821 | TXNRD2 | c.316C>A (p.Leu106Met) c.226C>A (p.Leu76Met) c.313C>A (p.Leu105Met) c.247C>A (p.Leu83Met) c.259C>A (p.Leu87Met) c.220C>A (p.Leu74Met) n.321C>A c.28C>A (p.Leu10Met) n.448C>A n.274C>A | |
22 | g.19918919del | CA638367411 | TXNRD2 | c.316del (p.Leu106Ter) c.226del (p.Leu76Ter) c.313del (p.Leu105Ter) c.247del (p.Leu83Ter) c.259del (p.Leu87Ter) c.220del (p.Leu74Ter) n.321del c.28del (p.Leu10Ter) n.448del n.274del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |