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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.18400769A= | CA1768219140 | NAT2 | c.766A= (p.Lys256=) c.376A= (p.Lys126=) | |
| 8 | g.18400769A>C | CA370636584 | NAT2 | c.766A>C (p.Lys256Gln) c.376A>C (p.Lys126Gln) | |
| 8 | g.18400769A>G | CA4651694 | NAT2 | c.766A>G (p.Lys256Glu) c.376A>G (p.Lys126Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400769A>T | CA370636583 | NAT2 | c.766A>T (p.Lys256Ter) c.376A>T (p.Lys126Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400770A>C | CA370636585 | NAT2 | c.767A>C (p.Lys256Thr) c.377A>C (p.Lys126Thr) | |
| 8 | g.18400770A>G | CA370636586 | NAT2 | c.767A>G (p.Lys256Arg) c.377A>G (p.Lys126Arg) | gnomAD v4 |
| 8 | g.18400770A>T | CA370636587 | NAT2 | c.767A>T (p.Lys256Ile) c.377A>T (p.Lys126Ile) | |
| 8 | g.18400771A>C | CA370636588 | NAT2 | c.768A>C (p.Lys256Asn) c.378A>C (p.Lys126Asn) | gnomAD v4 |
| 8 | g.18400771A>G | CA459699661 | NAT2 | c.768A>G (p.Lys256=) c.378A>G (p.Lys126=) | |
| 8 | g.18400771A>T | CA370636589 | NAT2 | c.768A>T (p.Lys256Asn) c.378A>T (p.Lys126Asn) | |
| 8 | g.18400772A= | CA1768219141 | NAT2 | c.769A= (p.Thr257=) c.379A= (p.Thr127=) | |
| 8 | g.18400772A>C | CA370636590 | NAT2 | c.769A>C (p.Thr257Pro) c.379A>C (p.Thr127Pro) | |
| 8 | g.18400772A>G | CA4651696 | NAT2 | c.769A>G (p.Thr257Ala) c.379A>G (p.Thr127Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400772A>T | CA4651695 | NAT2 | c.769A>T (p.Thr257Ser) c.379A>T (p.Thr127Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400772_18400774delinsACT | CA1768219142 | NAT2 | c.769_771delinsACT (p.Thr257=) c.379_381delinsACT (p.Thr127=) | |
| 8 | g.18400773C>A | CA370636591 | NAT2 | c.770C>A (p.Thr257Asn) c.380C>A (p.Thr127Asn) | |
| 8 | g.18400773C= | CA1768219143 | NAT2 | c.770C= (p.Thr257=) c.380C= (p.Thr127=) | |
| 8 | g.18400773C>G | CA4651697 | NAT2 | c.770C>G (p.Thr257Ser) c.380C>G (p.Thr127Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400773C>T | CA370636592 | NAT2 | c.770C>T (p.Thr257Ile) c.380C>T (p.Thr127Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400776_18400777del | CA580502475 | NAT2 | c.773_774del (p.Leu258HisfsTer2) c.383_384del (p.Leu128HisfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400774T>A | CA459699679 | NAT2 | c.771T>A (p.Thr257=) c.381T>A (p.Thr127=) | |
| 8 | g.18400774T>C | CA459699680 | NAT2 | c.771T>C (p.Thr257=) c.381T>C (p.Thr127=) | |
| 8 | g.18400774T>G | CA459699683 | NAT2 | c.771T>G (p.Thr257=) c.381T>G (p.Thr127=) | |
| 8 | g.18400775C>A | CA370636594 | NAT2 | c.772C>A (p.Leu258Ile) c.382C>A (p.Leu128Ile) | |
| 8 | g.18400775C= | CA1768219144 | NAT2 | c.772C= (p.Leu258=) c.382C= (p.Leu128=) | |
| 8 | g.18400775C>G | CA4651698 | NAT2 | c.772C>G (p.Leu258Val) c.382C>G (p.Leu128Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400775C>T | CA370636593 | NAT2 | c.772C>T (p.Leu258Phe) c.382C>T (p.Leu128Phe) | |
| 8 | g.18400776T>A | CA370636595 | NAT2 | c.773T>A (p.Leu258His) c.383T>A (p.Leu128His) | |
| 8 | g.18400776T>C | CA370636596 | NAT2 | c.773T>C (p.Leu258Pro) c.383T>C (p.Leu128Pro) | gnomAD v4 |
| 8 | g.18400776T>G | CA370636597 | NAT2 | c.773T>G (p.Leu258Arg) c.383T>G (p.Leu128Arg) | |
| 8 | g.18400777C>A | CA173519943 | NAT2 | c.774C>A (p.Leu258=) c.384C>A (p.Leu128=) | dbSNP gnomAD v4 |
| 8 | g.18400777C= | CA1768219145 | NAT2 | c.774C= (p.Leu258=) c.384C= (p.Leu128=) | |
| 8 | g.18400777C>G | CA459699695 | NAT2 | c.774C>G (p.Leu258=) c.384C>G (p.Leu128=) | dbSNP |
| 8 | g.18400777C>T | CA459699698 | NAT2 | c.774C>T (p.Leu258=) c.384C>T (p.Leu128=) | |
| 8 | g.18400778A= | CA1768219146 | NAT2 | c.775A= (p.Thr259=) c.385A= (p.Thr129=) | |
| 8 | g.18400778A>C | CA370636598 | NAT2 | c.775A>C (p.Thr259Pro) c.385A>C (p.Thr129Pro) | gnomAD v4 |
| 8 | g.18400778A>G | CA370636599 | NAT2 | c.775A>G (p.Thr259Ala) c.385A>G (p.Thr129Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.18400778A>T | CA370636600 | NAT2 | c.775A>T (p.Thr259Ser) c.385A>T (p.Thr129Ser) | |
| 8 | g.18400779C>A | CA370636601 | NAT2 | c.776C>A (p.Thr259Asn) c.386C>A (p.Thr129Asn) | dbSNP |
| 8 | g.18400779C= | CA1768219147 | NAT2 | c.776C= (p.Thr259=) c.386C= (p.Thr129=) | |
| 8 | g.18400779C>G | CA370636602 | NAT2 | c.776C>G (p.Thr259Ser) c.386C>G (p.Thr129Ser) | |
| 8 | g.18400779C>T | CA370636603 | NAT2 | c.776C>T (p.Thr259Ile) c.386C>T (p.Thr129Ile) | dbSNP gnomAD v4 |
| 8 | g.18400780T>A | CA459699712 | NAT2 | c.777T>A (p.Thr259=) c.387T>A (p.Thr129=) | |
| 8 | g.18400780T>C | CA459699714 | NAT2 | c.777T>C (p.Thr259=) c.387T>C (p.Thr129=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400780T>G | CA459699716 | NAT2 | c.777T>G (p.Thr259=) c.387T>G (p.Thr129=) | gnomAD v4 |
| 8 | g.18400780T= | CA1768219148 | NAT2 | c.777T= (p.Thr259=) c.387T= (p.Thr129=) | |
| 8 | g.18400781G>A | CA4651699 | NAT2 | c.778G>A (p.Glu260Lys) c.388G>A (p.Glu130Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.18400781G>C | CA370636604 | NAT2 | c.778G>C (p.Glu260Gln) c.388G>C (p.Glu130Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400781G= | CA1768219149 | NAT2 | c.778G= (p.Glu260=) c.388G= (p.Glu130=) | |
| 8 | g.18400781G>T | CA370636605 | NAT2 | c.778G>T (p.Glu260Ter) c.388G>T (p.Glu130Ter) | gnomAD v4 |